The Finnish Disease Heritage III: the individual diseases (Q34182582)

31 July 2017

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title

The Finnish Disease Heritage III: the individual diseases (English)

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31 July 2017

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Reijo Norio

1

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31 July 2017

8 March 2003

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31 July 2017

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31 July 2017

112

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31 July 2017

5-6

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31 July 2017

470-526

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https://scigraph.springernature.com/pub.10.1007/s00439-002-0877-1

31 July 2017

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cites work

Pulmonary manifestations in lysinuric protein intolerance

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12 December 2020

Prenatal diagnosis of Batten's disease

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12 December 2020

Magnetic resonance imaging analysis of hip joint development in patients with diastrophic dysplasia.

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12 December 2020

Inherited selective intestinal cobalamin malabsorption and cobalamin deficiency in dogs

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12 December 2020

Visual acuity in 183 cases of X-chromosomal retinoschisis

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12 December 2020

Toward understanding the pathogenic mechanisms in gelsolin-related amyloidosis: in vitro expression reveals an abnormal gelsolin fragment

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12 December 2020

3 hereditary growth disorders

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12 December 2020

Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland

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12 December 2020

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12 December 2020

Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A-->G mutation of the untranslated RMRP.

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12 December 2020

Muscle-eye-brain disease and Fukuyama type congenital muscular dystrophy are not allelic.

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12 December 2020

Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome

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12 December 2020

EEG and evoked potentials in infantile neuronal ceroid-lipofuscinosis

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12 December 2020

A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24.

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12 December 2020

High-resolution physical and genetic mapping of the critical region for Meckel syndrome and Mulibrey Nanism on chromosome 17q22-q23.

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12 December 2020

Raised plasma-ornithine and gyrate atrophy of the choroid and retina.

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12 December 2020

Meckel syndrome and neural tube defects in Kuwait

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12 December 2020

Hypercalcemia and nephrocalcinosis in patients with congenital lactase deficiency

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12 December 2020

Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene.

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12 December 2020

Jansky-Bielschowsky variant disease: CT, MRI, and SPECT findings.

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12 December 2020

Distinct outcomes of chloride diarrhoea in two siblings with identical genetic background of the disease: implications for early diagnosis and treatment

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12 December 2020

Sleep and its disturbance in a variant form of late infantile neuronal ceroid lipofuscinosis (CLN5).

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12 December 2020

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12 December 2020

Assignment of the locus for PLO-SL, a frontal-lobe dementia with bone cysts, to 19q13.

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12 December 2020

Furin initiates gelsolin familial amyloidosis in the Golgi through a defect in Ca(2+) stabilization

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12 December 2020

Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin

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12 December 2020

Familial systemic paramyloidosis with lattice dystrophy of the cornea, progressive cranial neuropathy, skin changes and various internal symptoms. A previously unrecognized heritable syndrome.

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12 December 2020

Antenatal diagnosis of hereditary fetal growth retardation with aminoaciduria, cholestasis, iron overload, and lactic acidosis in the newborn infant

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12 December 2020

The gene for a recessively inherited human childhood progressive epilepsy with mental retardation maps to the distal short arm of chromosome 8

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12 December 2020

Amyloid in familial amyloidosis, Finnish type, is antigenically and structurally related to gelsolin

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12 December 2020

Mulibrey nanism, an autosomal recessive syndrome with pericardial constriction

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12 December 2020

Meckel syndrome in different populations

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12 December 2020

Effect of lysine infusion on urea cycle in lysinuric protein intolerance

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12 December 2020

Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23.

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12 December 2020

Study of the malformation of ductal plate of the liver in Meckel syndrome and review of other syndromes presenting with this anomaly

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12 December 2020

Proton magnetic resonance spectroscopy of the brain of a neonate with nonketotic hyperglycinemia: in vivo-in vitro (ex vivo) correlation

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12 December 2020

A variant of Jansky-Bielschowsky disease

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12 December 2020

Muscular dystrophy with separate clinical phenotypes in a large family

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12 December 2020

The genetic background of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy and its autoimmune disease components

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12 December 2020

Recessively inherited lower incisor hypodontia

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12 December 2020

The effects of lysosomotropic agents on normal and INCL cells provide further evidence for the lysosomal nature of palmitoyl-protein thioesterase function

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12 December 2020

Refined localization of the gene causing X-linked juvenile retinoschisis

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12 December 2020

Adenovirus-mediated gene transfer results in decreased lysosomal storage in brain and total correction in liver of aspartylglucosaminuria (AGU) mouse

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12 December 2020

Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome

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12 December 2020

Assignment of the mulibrey nanism gene to 17q by linkage and linkage-disequilibrium analysis

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12 December 2020

Congenital chloride diarrhoea. Clinical analysis of 21 Finnish patients

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12 December 2020

Autoimmune polyendocrinopathy--candidosis--ectodermal dystrophy (APECED): autosomal recessive inheritance

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12 December 2020

Aberrant splicing of the CHM gene is a significant cause of choroideremia

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12 December 2020

Finnish hereditary amyloidosis is caused by a single nucleotide substitution in the gelsolin gene

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12 December 2020

Genetic background of congenital chloride diarrhea in high-incidence populations: Finland, Poland, and Saudi Arabia and Kuwait

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12 December 2020

The ophthalmological course of Usher syndrome type III.

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12 December 2020

Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism

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12 December 2020

Protein intolerance with deficient transport of basic aminoacids. Another inborn error of metabolism

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12 December 2020

Pheno/genotypic correlations of neuronal ceroid lipofuscinoses

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12 December 2020

Proteinuria and prenatal diagnosis of congenital nephrosis in fetal carriers of nephrin gene mutations

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12 December 2020

A urinary radioisotope-binding assay to diagnose Gräsbeck-Imerslund disease

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12 December 2020

Positional cloning of the APECED gene

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12 December 2020

Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia

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12 December 2020

The Meckel syndrome in Finland: epidemiologic and genetic aspects

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12 December 2020

Enzyme replacement therapy in a mouse model of aspartylglycosaminuria

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12 December 2020

Assignment of the locus for a new lethal neonatal metabolic syndrome to 2q33-37

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12 December 2020

Mutations in KERA, encoding keratocan, cause cornea plana

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12 December 2020

Autosomal recessive cornea plana: in vivo corneal morphology and corneal sensitivity

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12 December 2020

Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLO-SL): a genealogical study of Swedish families of probable Finnish background

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12 December 2020

A cluster of lysinuric protein intolerance (LPI) patients in a northern part of Iwate, Japan due to a founder effect. The Mass Screening Group

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12 December 2020

Genetic aspects in gyrate atrophy of the choroid and retina with hyperornithinaemia

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12 December 2020

High incidence of Meckel's syndrome in Gujarati Indians

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12 December 2020

Enlarged SI and SII somatosensory evoked responses in the CLN5 form of neuronal ceroid lipofuscinosis.

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12 December 2020

A mouse model for the human lysosomal disease aspartylglycosaminuria.

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12 December 2020

Muscle-eye-brain disease

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12 December 2020

Cornea plana congenita gene assigned to the long arm of chromosome 12 by linkage analysis

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12 December 2020

Bone marrow transplantation for aspartylglucosaminuria: follow-up study of transplanted and non-transplanted patients

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12 December 2020

X-LINKED HEREDITARY RETINOSCHISIS.

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12 December 2020

Congenital chloride diarrhea, an autosomal recessive disease. Genetic study of 14 Finnish and 12 other families

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12 December 2020

A Novel mutation in the FSH receptor inhibiting signal transduction and causing primary ovarian failure.

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12 December 2020

Cervical spine in patients with diastrophic dysplasia--radiographic findings in 122 patients

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12 December 2020

Autosomal recessive cornea plana. A clinical and genetic study of 78 cases in Finland

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12 December 2020

High-resolution mapping and transcript identification at the progressive epilepsy with mental retardation locus on chromosome 8p.

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12 December 2020

Prenatal ultrasonic findings in congenital chloride diarrhoea

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12 December 2020

Unstable insertion in the 5' flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1

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12 December 2020

Choroideremia. A clinical and genetic study of 84 Finnish patients and 126 female carriers

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12 December 2020

Differential diagnosis between the primary total choroidal vascular atrophies

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12 December 2020

Progressive myoclonus epilepsies: clinical and neurophysiological diagnosis

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12 December 2020

The human intrinsic factor-vitamin B12 receptor, cubilin: molecular characterization and chromosomal mapping of the gene to 10p within the autosomal recessive megaloblastic anemia (MGA1) region

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12 December 2020

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12 December 2020

The Meckel Syndrome. Pathological and cytogenetic observations in eight cases

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12 December 2020

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12 December 2020

Cohen syndrome: essential features, natural history, and heterogeneity

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12 December 2020

Deficiency of alpha-dystroglycan in muscle-eye-brain disease.

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12 December 2020

Lethal arthrogryposis with anterior horn cell disease

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12 December 2020

Lethal arthrogryposis in Finland--a clinico-pathological study of 83 cases during thirteen years

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12 December 2020

Assignment of the locus for hydrolethalus syndrome to a highly restricted region on 11q23-25.

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12 December 2020

RAPADILINO syndrome: a multiple malformation syndrome with radial and patellar aplasia

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12 December 2020

Brain pathology in the Meckel syndrome: a study of 59 cases.

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12 December 2020

Familial amyloidosis of the Finnish type (FAF). A clinical study of 30 patients

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12 December 2020

Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium

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12 December 2020

Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure

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12 December 2020

Nasu-Hakola syndrome: polycystic lipomembranous osteodysplasia with sclerosing leucoencephalopathy and presenile dementia

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12 December 2020

Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts.

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12 December 2020

GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L

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12 December 2020

Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome

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12 December 2020

Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.

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12 December 2020

CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis

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12 December 2020

Roentgenologic findings of the hydrolethalus syndrome

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12 December 2020

Enzymatic Diagnosis and Carrier Detection of Aspartylglucosaminuria Using Blood Samples

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12 December 2020

Danish type gelsolin related amyloidosis: 654G-T mutation is associated with a disease pathogenetically and clinically similar to that caused by the 654G-A mutation (familial amyloidosis of the Finnish type).

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12 December 2020

Central and peripheral nervous system dysfunction in the clinical variation of Salla disease.

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12 December 2020

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12 December 2020

Choroideremia: linkage analysis with physically mapped close DNA-markers

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12 December 2020

Refined mapping of the Cohen syndrome gene by linkage disequilibrium.

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12 December 2020

Toward cloning of a novel ataxia gene: refined assignment and physical map of the IOSCA locus (SCA8) on 10q24

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12 December 2020

Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: First adult-onset patients of a childhood disease

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12 December 2020

Delayed classic and protracted phenotypes of compound heterozygous juvenile neuronal ceroid lipofuscinosis.

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12 December 2020

A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity

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12 December 2020

Hippocampal lesions in the neuronal ceroid lipofuscinoses.

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12 December 2020

MRI of the brain in muscle-eye-brain (MEB) disease

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12 December 2020

Pre- and postnatal enzyme analysis for infantile, late infantile and adult neuronal ceroid lipofuscinosis (CLN1 and CLN2).

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12 December 2020

Subcellular localization of the autoimmune regulator protein. characterization of nuclear targeting and transcriptional activation domain

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12 December 2020

Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome) in two Japanese siblings

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12 December 2020

Non-ketotic hyperglycinaemia: molecular lesion, diagnosis and pathophysiology

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12 December 2020

RAPADILINO syndrome with radial and patellar aplasia/hypoplasia as main manifestations

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12 December 2020

Growth in diastrophic dysplasia

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12 December 2020

Localized proton MR spectroscopic detection of nonketotic hyperglycinemia in an infant

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12 December 2020

Positional cloning of the gene associated with X-linked juvenile retinoschisis

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12 December 2020

Assignment of the locus for congenital lactase deficiency to 2q21, in the vicinity of but separate from the lactase-phlorizin hydrolase gene

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12 December 2020

Defective intracellular transport of CLN3 is the molecular basis of Batten disease (JNCL)

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12 December 2020

A physical map of the 6q14-q15 region harboring the locus for the lysosomal membrane sialic acid transport defect

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12 December 2020

Cartilage-hair hypoplasia in Finland: epidemiological and genetic aspects of 107 patients

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12 December 2020

Progressive Myoclonic Epilepsies

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12 December 2020

Neuropsychiatric and genetic aspects of a new hereditary disease characterized by progressive dementia and lipomembranous polycystic osteodysplasia

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12 December 2020

Linkage disequilibrium and physical mapping of X-linked juvenile retinoschisis

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12 December 2020

Congenital nephrotic syndrome (NPHS1): features resulting from different mutations in Finnish patients

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12 December 2020

Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias

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12 December 2020

Familial Protein Intolerance with Deficient Transport of Basic Amino Acids: An Analysis of 10 Patients

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12 December 2020

Assignment of keratocan gene (KERA) to human chromosome band 12q22 by in situ hybridization

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12 December 2020

Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients.

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12 December 2020

Mechanisms of proteinuria: vascular permeability factor in congenital nephrotic syndrome of the Finnish type

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12 December 2020

Lung function in diastrophic dysplasia.

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12 December 2020

Lethal congenital contracture syndrome (LCCS), a fetal anterior horn cell disease, is not linked to the SMA 5q locus

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12 December 2020

MRI of the brain in the Cohen syndrome: a relatively large corpus callosum in patients with mental retardation and microcephaly

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12 December 2020

Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)

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12 December 2020

Mice with an aspartylglucosaminuria mutation similar to humans replicate the pathophysiology in patients

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12 December 2020

Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland

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12 December 2020

MRI evaluation of the brain in infantile neuronal ceroid-lipofuscinosis. Part 2: MRI findings in 21 patients

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12 December 2020

Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S.

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12 December 2020

Altered Levels of Various Amino Acids in Blood Plasma and Cerebrospinal Fluid of Patients with Nonketotic Hyperglycinemia

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12 December 2020

Cleft palate in diastrophic dysplasia. Morphology, results of treatment and complications

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12 December 2020

An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains

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12 December 2020

Roentgenologic features of the Meckel syndrome

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12 December 2020

Clinical features of primary ovarian failure caused by a point mutation in the follicle-stimulating hormone receptor gene

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12 December 2020

Phenotypic spectrum of Salla disease, a free sialic acid storage disorder

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12 December 2020

A new syndrome with hypotonia, obesity, mental deficiency, and facial, oral, ocular, and limb anomalies

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12 December 2020

Ophthalmological findings in a new syndrome with muscle, eye and brain involvement

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12 December 2020

The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24.

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12 December 2020

Iron-overload disease in infants involving fetal growth retardation, lactic acidosis, liver haemosiderosis, and aminoaciduria

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12 December 2020

METAPHYSEAL DYSOSTOSIS AND THIN HAIR: A "NEW" RECESSIVELY INHERITED SYNDROME?

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12 December 2020

Congenital chloride diarrhoea in Poland

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12 December 2020

DWARFISM IN THE AMISH. II. CARTILAGE-HAIR HYPOPLASIA

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12 December 2020

APECED mutations in the autoimmune regulator (AIRE) gene

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12 December 2020

Muscle-eye-brain disease and Walker-Warburg syndrome.

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12 December 2020

Limb-girdle type muscular dystrophy in a large family with distal myopathy: homozygous manifestation of a dominant gene?

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12 December 2020

APS-I/APECED: the clinical disease and therapy

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12 December 2020

Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1

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12 December 2020

Creatine corrects muscle 31P spectrum in gyrate atrophy with hyperornithinaemia.

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12 December 2020

The phenotypic variability of diastrophic dysplasia

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12 December 2020

Clinical and neurophysiological findings in heterozygotes for nonketotic hyperglycinemia.

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12 December 2020

Sensory neuropathy in infantile onset spinocerebellar ataxia (IOSCA)

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12 December 2020

Tracing an ancestral mutation: genealogical and haplotype analysis of the infantile onset spinocerebellar ataxia locus

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12 December 2020

Classification of progressive myoclonus epilepsies and related disorders

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12 December 2020

Infantile cerebello-optic atrophy. Neuropathology of the progressive encephalopathy syndrome with edema, hypsarrhythmia and optic atrophy (the PEHO syndrome).

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12 December 2020

Cloning of a gene that is rearranged in patients with choroideraemia

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12 December 2020

Genetic homogeneity of autoimmune polyglandular disease type I.

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12 December 2020

Lysinuric protein intolerance

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12 December 2020

"Salla disease": a new lysosomal storage disorder

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12 December 2020

Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea

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12 December 2020

Deficiency of humoral immunity in cartilage-hair hypoplasia

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12 December 2020

Correction of deficient enzyme activity in a lysosomal storage disease, aspartylglucosaminuria, by enzyme replacement and retroviral gene transfer

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12 December 2020

The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6

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12 December 2020

Tibial muscular dystrophy. Late adult-onset distal myopathy in 66 Finnish patients

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12 December 2020

The TRIM37 gene encodes a peroxisomal RING-B-box-coiled-coil protein: classification of mulibrey nanism as a new peroxisomal disorder

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12 December 2020

Autosomal dominant cornea plana: clinical findings in a Cuban family and a review of the literature

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12 December 2020

A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases

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12 December 2020

Ketoconazole is effective against the chronic mucocutaneous candidosis of autoimmune polyendocrinopathy-candidosis-ectodermal dystrophy (APECED).

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12 December 2020

Spectrum of mutations in the Batten disease gene, CLN3

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12 December 2020

SLC7A7 genomic structure and novel variants in three Japanese lysinuric protein intolerance families

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12 December 2020

Abnormalities of the brain in nonketotic hyperglycinemia: MR manifestations.

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12 December 2020

Management of congenital nephrotic syndrome of the Finnish type

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12 December 2020

The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation

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12 December 2020

Lack of activation of human secondary somatosensory cortex in Unverricht-Lundborg type of progressive myoclonus epilepsy

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12 December 2020

The spectrum of Jansky-Bielschowsky disease.

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12 December 2020

Congenital cornea plana in Finland

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12 December 2020

Gyrate atrophy of the choroid and retina: further experience with long-term reduction of ornithine levels in children

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12 December 2020

Neuronal trafficking of palmitoyl protein thioesterase provides an excellent model to study the effects of different mutations which cause infantile neuronal ceroid lipofuscinocis

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12 December 2020

Identical genetic locus for Baltic and Mediterranean myoclonus

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12 December 2020

The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping

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12 December 2020

SLC26A2 (diastrophic dysplasia sulfate transporter) is expressed in developing and mature cartilage but also in other tissues and cell types

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12 December 2020

Spectrum of mutations in aspartylglucosaminuria

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12 December 2020

Gonadal dysgenesis in individuals with apparently normal chromosomal complements: tabulation of cases and compilation of genetic data

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12 December 2020

Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy.

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12 December 2020

Cohen syndrome gene assigned to the long arm of chromosome 8 by linkage analysis

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12 December 2020

Nephrotic syndrome in newborn and young infants

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12 December 2020

Inheritance of selective malabsorption of vitamin B12

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12 December 2020

Congenital nephrotic syndrome of the Finnish type maps to the long arm of chromosome 19

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12 December 2020

Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease.

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12 December 2020

Loss of a metal-binding site in gelsolin leads to familial amyloidosis-Finnish type

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12 December 2020

Lysinuric protein intolerance, an autosomal recessive disease. A genetic study of 10 Finnish families

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12 December 2020

Heredity in the congenital nephrotic syndrome. A genetic study of 57 finnish FAMILIES WITH A REVIEW OF REPORTED CASES

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12 December 2020

Suction biopsy of rectal mucosa in the diagnosis of infantile and juvenile types of neuronal ceroid lipofuscinoses

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12 December 2020

Retinal degeneration in choroideremia: deficiency of rab geranylgeranyl transferase

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12 December 2020

First-trimester diagnosis of hydrolethalus syndrome

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12 December 2020

Brain perfusion SPECT in juvenile neuronal ceroid lipofuscinosis.

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12 December 2020

A lethal autosomal recessive syndrome of multiple congenital contractures

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12 December 2020

Progressive hearing loss in Usher's syndrome.

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12 December 2020

The gene for congenital chloride diarrhea maps close to but is distinct from the gene for cystic fibrosis transmembrane conductance regulator

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12 December 2020

Progressive myoclonus epilepsy. A clinical and histopathological study.

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12 December 2020

Hereditary diseases in Finland; rare flora in rare soul

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12 December 2020

Nephronophthisis in Finland: epidemiology and comparison of genetically classified subgroups

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12 December 2020

Hydrolethalus syndrome

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12 December 2020

The genetics of XX gonadal dysgenesis

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12 December 2020

Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype.

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12 December 2020

The neuronal ceroid-lipofuscinoses

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12 December 2020

Impaired spermatogenesis: an unrecognized feature of cartilage-hair hypoplasia

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12 December 2020

Late infantile progressive encephalopathy with disturbed poly-unsaturated fat metabolism

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12 December 2020

Nonketotic hyperglycinemia: a clinical analysis of 19 Finnish patients

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12 December 2020

Gyrate atrophy of the choroid and retina associated with hyperornithinaemia

1 reference

12 December 2020

Localization of gelsolin proximal to ABL on chromosome 9

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12 December 2020

Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits [published erratum appears in Hum Mol Genet 1998 Apr;7(4):765]

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12 December 2020

Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium

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12 December 2020

Lysosomal free sialic acid storage disorders with different phenotypic presentations--infantile-form sialic acid storage disease and Salla disease--represent allelic disorders on 6q14-15.

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12 December 2020

A gene for Meckel syndrome maps to chromosome 11q13.

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12 December 2020

The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum

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12 December 2020

Congenital lactase deficiency. A clinical study on 16 patients

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12 December 2020

Transdermal fentanyl therapy for pains in children with infantile neuronal ceroid lipofuscinosis

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12 December 2020

Hirschsprung disease associated with severe cartilage-hair hypoplasia

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12 December 2020

The genetics of cornea plana congenita

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12 December 2020

Salla disease: a new lysosomal storage disorder with disturbed sialic acid metabolism

1 reference

12 December 2020

Mutational analysis of patients with the diagnosis of choroideremia

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12 December 2020

Gyrate atrophy of the choroid and retina with hyperornithinemia: Tubular aggregates and type 2 fiber atrophy in muscle

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12 December 2020

Palmitoyl protein thioesterase (PPT) localizes into synaptosomes and synaptic vesicles in neurons: implications for infantile neuronal ceroid lipofuscinosis (INCL)

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12 December 2020

Neuropathy in familial amyloidosis , Finnish type (FAF): electrophysiological studies

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12 December 2020

Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1

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12 December 2020

Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations

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12 December 2020

Functional analysis of novel mutations in y(+)LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI).

1 reference

12 December 2020

Clinical features and genetics of progressive myoclonus epilepsy of the Univerricht-Lundborg type.

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12 December 2020

Northern epilepsy: a novel form of neuronal ceroid-lipofuscinosis.

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12 December 2020

Role of nephrin in cell junction formation in human nephrogenesis

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12 December 2020

Long-term efficacy and safety of piracetam in the treatment of progressive myoclonus epilepsy

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12 December 2020

Expression of X-linked retinoschisis protein RS1 in photoreceptor and bipolar cells

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12 December 2020

Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8.

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12 December 2020

Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1

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12 December 2020

CLN-1 and CLN-5, genes for infantile and variant late infantile neuronal ceroid lipofuscinoses, are expressed in the embryonic human brain

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12 December 2020

Mulibrey nanism: three additional patients and a review of 39 patients

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12 December 2020

Further delineation of the Cohen syndrome; report on chorioretinal dystrophy, leukopenia and consanguinity

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12 December 2020

Congenital chloride diarrhea. A study in Arab children.

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12 December 2020

Granulocytopenia in Cohen syndrome

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12 December 2020

Progressive nature of aspartylglucosaminuria

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12 December 2020

Early prenatal diagnosis of a lethal syndrome of multiple congenital contractures

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12 December 2020

Identification of a stop mutation in five Finnish patients suffering from hereditary tyrosinemia type I

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12 December 2020

Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q.

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12 December 2020

Chromosomal localization of the human glycoasparaginase gene to 4q32?q33

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12 December 2020

Carriers of the aspartylglucosaminuria genetic mutation and chronic arthritis

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12 December 2020

Nonketotic hyperglycinemia A genetic study of 13 Finnish families

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12 December 2020

Dutch patients with progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO) syndrome

1 reference

12 December 2020

PATHOLOGY OF LETHAL FETAL GROWTH RETARDATION SYNDROME WITH AMINOACIDURIA, IRON OVERLOAD, AND LACTIC ACIDOSIS (GRACILE)

1 reference

12 December 2020

Congenital chloride diarrhoea

1 reference

12 December 2020

Localization of a gene for progressive myoclonus epilepsy to chromosome 21q22

1 reference

12 December 2020

Disaccharidases and histology of duodenal mucosa in congenital lactose malabsorption

1 reference

12 December 2020

Vascular changes and blood-brain barrier damage in the pathogenesis of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (membranous lipodystrophy).

1 reference

12 December 2020

A new type of idiopathic hyperglycinemia with hypo-oxaluria

1 reference

12 December 2020

Visceral anomalies in the Meckel syndrome

1 reference

12 December 2020

Muscle-eye-brain disease (MEB)

1 reference

12 December 2020

Functional characterization of the human FSH receptor with an inactivating Ala189Val mutation

1 reference

12 December 2020

The Meckel syndrome: clinicopathological findings in 67 patients

1 reference

12 December 2020

Aire deficient mice develop multiple features of APECED phenotype and show altered immune response

1 reference

12 December 2020

MRI of neuronal ceroid lipofuscinosis. I. Cranial MRI of 30 patients with juvenile neuronal ceroid lipofuscinosis.

1 reference

12 December 2020

Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses

1 reference

12 December 2020

AIRE mutations and human leukocyte antigen genotypes as determinants of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy phenotype

1 reference

12 December 2020

Epilepsy and antiepileptic drug therapy in juvenile neuronal ceroid lipofuscinosis

1 reference

12 December 2020

Genetic homogeneity of cartilage-hair hypoplasia

1 reference

12 December 2020

Infantile type of so-called neuronal ceroid-lipofuscinosis. Histological and electron microscopic studies

1 reference

12 December 2020

Corneal pathology and outcome of keratoplasty in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)

1 reference

12 December 2020

Congenital nephrotic syndrome of Finnish type. Study of 75 patients

1 reference

12 December 2020

Corneal morphology and sensitivity in lattice dystrophy type II (familial amyloidosis, Finnish type).

1 reference

12 December 2020

Lysinuric protein intolerance (LPI) gene maps to the long arm of chromosome 14

1 reference

12 December 2020

Clinical and neuroradiological diagnostic aspects of neuronal ceroid lipofuscinoses disorders

1 reference

12 December 2020

Detection of eight novel palmitoyl protein thioesterase (PPT) mutations underlying infantile neuronal ceroid lipofuscinosis (INCL;CLN1)

1 reference

12 December 2020

Dystonia as acute adverse reaction to cough suppressant in a 3-year-old girl

1 reference

12 December 2020

The spine in diastrophic dysplasia.

1 reference

12 December 2020

Infantile onset spinocerebellar ataxia with sensory neuropathy (IOSCA): neuropathological features.

1 reference

12 December 2020

Development of the hip in diastrophic dysplasia

1 reference

12 December 2020

Effects of follicle-stimulating hormone (FSH) and human chorionic gonadotropin in individuals with an inactivating mutation of the FSH receptor

1 reference

12 December 2020

Inborn errors of amino acid metabolism

1 reference

12 December 2020

Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis

1 reference

12 December 2020

Northern epilepsy syndrome: an inherited childhood onset epilepsy with associated mental deterioration

1 reference

12 December 2020

Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein

1 reference

12 December 2020

Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype

1 reference

12 December 2020

Progressive myoclonus epilepsy: genetic and nosological aspects with special reference to 107 Finnish patients

1 reference

12 December 2020

Primary hereditary systemic amyloidosis (Meretoja's syndrome): clinical features and treatment by plastic surgery

1 reference

12 December 2020

Exogenous apotransferrin and exchange transfusions in hereditary iron overload disease.

1 reference

12 December 2020

Mulibrey nanism: review of 23 cases of a new autosomal recessive syndrome

1 reference

12 December 2020

Myoclonus epilepsy (Univerricht-Lundborg) in Finland

1 reference

12 December 2020

Does a Jewish type of Cohen syndrome truly exist?

1 reference

12 December 2020

Mulibrey nanism; an inherited dysmorphic syndrome with characteristic ocular findings.

1 reference

12 December 2020

Dominantly and recessively inherited cornea plana congenita map to the same small region of chromosome 12

1 reference

12 December 2020

Aspartylglycosaminuria: a generalized storage disease. Morphological and histochemical studies

1 reference

12 December 2020

Haplotype study of West European and North African Unverricht-Lundborg chromosomes: evidence for a few founder mutations.

1 reference

12 December 2020

PEHO or PEHO-like syndrome?

1 reference

12 December 2020

Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene

1 reference

12 December 2020

Identification of the Finnish founder mutation for diastrophic dysplasia (DTD).

1 reference

12 December 2020

The autoimmune regulator (AIRE) is a DNA-binding protein

1 reference

12 December 2020

Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea

1 reference

12 December 2020

CNS manifestations of Nasu-Hakola disease: a frontal dementia with bone cysts

1 reference

12 December 2020

Molecular pathogenesis of a disease: structural consequences of aspartylglucosaminuria mutations.

1 reference

12 December 2020

The hydrolethalus syndrome: delineation of a "new", lethal malformation syndrome based on 28 patients.

1 reference

12 December 2020

Rapadilino syndrome--a non-Finnish case

1 reference

12 December 2020

Prenatal diagnosis of Meckel syndrome: Case reports and literature review

1 reference

12 December 2020

Genetic aspects of familial amyloidosis with corneal lattice dystrophy and cranial neuropathy

1 reference

12 December 2020

Muscle-eye-brain disease: a neuropathological study

1 reference

12 December 2020

Neuropathological studies in three Scandinavian cases of progressive myoclonus epilepsy

1 reference

12 December 2020

Neurological and psychological findings in patients with Cohen syndrome: a study of 18 patients aged 11 months to 57 years

1 reference

12 December 2020

Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies

1 reference

12 December 2020

Cloning of the APECED gene provides new insight into human autoimmunity

1 reference

12 December 2020

X-chromosomal recessive retinoschisis in the Region of Pori. An ophthalmo-genetical analysis of 103 cases

1 reference

12 December 2020

Phenotype-genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5)

1 reference

12 December 2020

Role of palmitoyl-protein thioesterase in cell death: implications for infantile neuronal ceroid lipofuscinosis

1 reference

12 December 2020

Linkage studies in progressive myoclonus epilepsy: Unverricht-Lundborg and Lafora's diseases

1 reference

12 December 2020

Altered platelet shape change in hereditary gelsolin Asp187Asn-related amyloidosis

1 reference

12 December 2020

Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy.

1 reference

12 December 2020

A lipid metabolic disease-"membranous lipodystrophy"-an autopsy case demonstrating numerous peculiar membrane-structures composed of compound lipid in bone and bone marrow and various adipose tissues.

1 reference

12 December 2020

CSF insulin-like growth factor-1 in infantile neuronal ceroid lipofuscinosis

1 reference

12 December 2020

Role of haematological, pulmonary and renal complications in the long-term prognosis of patients with lysinuric protein intolerance

1 reference

12 December 2020

Ophthalmologic heterogeneity in subjects with gyrate atrophy of choroid and retina harboring the L402P mutation of ornithine aminotransferase

1 reference

12 December 2020

An autosomal locus causing autoimmune disease: autoimmune polyglandular disease type I assigned to chromosome 21

1 reference

12 December 2020

Muscle membrane-skeleton protein changes and histopathological characterization of muscle-eye-brain disease.

1 reference

12 December 2020

Scoliosis in patients with diastrophic dysplasia: a new classification

1 reference

12 December 2020

Assignment of the tibial muscular dystrophy locus to chromosome 2q31.

1 reference

12 December 2020

A syndrome of multiple congenital contractures: neuropathological analysis on five fetal cases

1 reference

12 December 2020

Infantile type of so-called neuronal ceroid-lipofuscinosis. 1. A clinical study of 15 patients

1 reference

12 December 2020

Finnish hereditary amyloidosis. Amino acid sequence homology between the amyloid fibril protein and human plasma gelsoline

1 reference

12 December 2020

Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528C mutation: clinical presentation of thirteen patients.

1 reference

12 December 2020

PEHO syndrome (progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy): neuroradiologic findings.

1 reference

12 December 2020

Choroideremia is linked to the restriction fragment length polymorphism DXYS1 at XQ13-21.

1 reference

12 December 2020

Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten disease

1 reference

12 December 2020

CLN3 protein is targeted to neuronal synapses but excluded from synaptic vesicles: new clues to Batten disease

1 reference

12 December 2020

Fine mapping and haplotype analysis of the locus for congenital nephrotic syndrome on chromosome 19q13.1.

1 reference

12 December 2020

Diastrophic dysplasia gene maps to the distal long arm of chromosome 5

1 reference

12 December 2020

Studies on the defect underlying the lysosomal storage of sialic acid in Salla disease. Lysosomal accumulation of sialic acid formed from N-acetyl-mannosamine or derived from low density lipoprotein in cultured mutant fibroblasts

1 reference

12 December 2020

Atypical juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposit-like inclusions in the autonomic nerve cells of the gut wall

1 reference

12 December 2020

Random search for shared chromosomal regions in four affected individuals: the assignment of a new hereditary ataxia locus

1 reference

12 December 2020

1 reference

12 December 2020

Expression of normal and mutant GFP-tagged y(+)L amino acid transporter-1 in mammalian cells

1 reference

12 December 2020

Mutated genes in juvenile and variant late infantile neuronal ceroid lipofuscinoses encode lysosomal proteins

1 reference

12 December 2020

Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance

1 reference

12 December 2020

Cartilage-hair hypoplasia--clinical manifestations in 108 Finnish patients

1 reference

12 December 2020

Prenatal detection of free sialic acid storage disease: genetic and biochemical studies in nine families

1 reference

12 December 2020

Selective vitamin B12 malabsorption and proteinuria in young people. A syndrome.

1 reference

12 December 2020

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

1 reference

12 December 2020

Clinical and genetic heterogeneity in Meckel syndrome

1 reference

12 December 2020

Progressive ataxia, myoclonic epilepsy and cerebellar apoptosis in cystatin B-deficient mice

1 reference

12 December 2020

Diastrophic dysplasia diagnosed in a case published 100 years ago

1 reference

12 December 2020

Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations

1 reference

12 December 2020

Congenital chloride diarrhoea in Kuwaiti children

1 reference

12 December 2020

Somatosensory evoked magnetic fields from primary sensorimotor cortex in juvenile neuronal ceroid lipofuscinosis.

1 reference

12 December 2020

Mechanisms of myopia in Cohen syndrome mapped to chromosome 8q22.

1 reference

12 December 2020

Usher's Syndrome Type III

1 reference

12 December 2020

1 reference

12 December 2020

A sequence-ready map of the Usher syndrome type III critical region on chromosome 3q

1 reference

12 December 2020

Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein, and is expressed and released by Weri-Rb1 cells

1 reference

12 December 2020

Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome).

1 reference

12 December 2020

Rapid diagnostic test for the major mutation underlying Batten disease

1 reference

12 December 2020

Infantile onset spinocerebellar ataxia with sensory neuropathy: a new inherited disease

1 reference

12 December 2020

Defective lactose absorption causing malnutrition in infancy

1 reference

12 December 2020

Decreased activity of intestinal and urinary intrinsic factor receptor in Gräsbeck-Imerslund disease [corrected]

1 reference

12 December 2020

The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8

1 reference

12 December 2020

Hyperglycinuria with severe neurological manifestations

1 reference

12 December 2020

Recurrence of nephrotic syndrome in kidney grafts of patients with congenital nephrotic syndrome of the Finnish type: role of nephrin.

1 reference

12 December 2020

Lethal congenital contracture syndrome: further delineation and genetic aspects

1 reference

12 December 2020

Infantile neuronal ceroid lipofuscinosis: no longer just a 'Finnish' disease

1 reference

12 December 2020

Dystrophia retinae pigmentosa--dysacusis syndrome (DRD): a study of the Usher- or Hallgren syndrome

1 reference

12 December 2020

Ocular findings in muscle-eye-brain (MEB) disease: a follow-up study.

1 reference

12 December 2020

Neuromuscular pathology in hereditary gelsolin amyloidosis

1 reference

12 December 2020

Refined mapping of the Usher syndrome type III locus on chromosome 3, exclusion of candidate genes, and identification of the putative mouse homologous region

1 reference

12 December 2020

Neuropsychological test battery in the follow-up of patients with juvenile neuronal ceroid lipofuscinosis.

1 reference

12 December 2020

Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3

1 reference

12 December 2020

Hematopoietic stem cell transplantation in infantile neuronal ceroid lipofuscinosis

1 reference

12 December 2020

Cubilin and the hydrophobic intrinsic factor receptor are distinct molecules

1 reference

12 December 2020

The age of human mutation: genealogical and linkage disequilibrium analysis of the CLN5 mutation in the Finnish population.

1 reference

12 December 2020

Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping

1 reference

12 December 2020

Transport of organic anions by the lysosomal sialic acid transporter: a functional approach towards the gene for sialic acid storage disease

1 reference

12 December 2020

Studies of homogenous populations: CLN5 and CLN8.

1 reference

12 December 2020

Variant Bernard-Soulier syndrome due to homozygous Asn45Ser mutation in the platelet glycoprotein (GP) IX in seven patients of five unrelated Finnish families.

1 reference

12 December 2020

Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene

1 reference

12 December 2020

Cartilage-hair hypoplasia

1 reference

12 December 2020

Functional Implications of the Spectrum of Mutations Found in 234 Cases With X-linked Juvenile Retinoschisis (XLRS)

1 reference

12 December 2020

Attitudes towards prenatal diagnosis and selective abortion among patients with retinitis pigmentosa or choroideremia as well as among their relatives

1 reference

12 December 2020

USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses

1 reference

12 December 2020

Role of proprotein convertases in the pathogenic processing of the amyloidosis-associated form of secretory gelsolin

1 reference

12 December 2020

Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein

1 reference

12 December 2020

Detection of heterozygotes for aspartylglucosaminuria (AGU) in cultured fibroblasts

1 reference

12 December 2020

Selective intestinal malabsorption of vitamin B12 displays recessive mendelian inheritance: assignment of a locus to chromosome 10 by linkage.

1 reference

12 December 2020

Regional mapping of the Batten disease locus (CLN3) to human chromosome 16p12

1 reference

12 December 2020

Prevalence of phenylketonuria and some other metabolic disorders among mentally retarded patients in Finland

1 reference

12 December 2020

Obstructive sleep apnoea syndrome in hereditary gelsolin-related amyloidosis.

1 reference

12 December 2020

Prenatal diagnosis of the Meckel syndrome

1 reference

12 December 2020

Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: application to aspartylglucosaminuria in Finland

1 reference

12 December 2020

Linkage disequilibrium utilized to establish a refined genetic position of the Salla disease locus on 6q14-q15

1 reference

12 December 2020

The congenital chloride diarrhea gene is expressed in seminal vesicle, sweat gland, inflammatory colon epithelium, and in some dysplastic colon cells

1 reference

12 December 2020

Post-transplantation nephrosis in congenital nephrotic syndrome of the Finnish type.

1 reference

12 December 2020

Polyglandular autoimmune syndrome type I among Iranian Jews

1 reference

12 December 2020

The knee joint in diastrophic dysplasia. A clinical and radiological study

1 reference

12 December 2020

Batten disease (Spielmeyer-Vogt disease, juvenile onset neuronal ceroid-lipofuscinosis) gene (CLN3) maps to human chromosome 16.

1 reference

12 December 2020

Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis

1 reference

12 December 2020

Increased incidence of cancer in patients with cartilage-hair hypoplasia

1 reference

12 December 2020

Ophthalmological findings in infantile type of so-called neuronal ceroid lipofuscinosis

1 reference

12 December 2020

Infantile type of so-called neuronal ceroid-lipofuscinosis. 2. Morphological and biochemical studies

1 reference

12 December 2020

Lysinuric protein intolerance: a two-year trial of dietary supplementation therapy with citrulline and lysine

1 reference

12 December 2020

Assignment of the disease locus for lethal congenital contracture syndrome to a restricted region of chromosome 9q34, by genome scan using five affected individuals

1 reference

12 December 2020

Diagnostic criteria and genetics of the PEHO syndrome

1 reference

12 December 2020

Fine-scale mapping of a novel dementia gene, PLOSL, by linkage disequilibrium.

1 reference

12 December 2020

Genetic homogeneity of lysinuric protein intolerance

1 reference

12 December 2020

Mulibrey-nanism: dwarfism with muscle, liver, brain and eye involvement.

1 reference

12 December 2020

Gene defect behind APECED: a new clue to autoimmunity

1 reference

12 December 2020

Efficient construction of a physical map by fiber-FISH of the CLN5 region: refined assignment and long-range contig covering the critical region on 13q22.

1 reference

12 December 2020

Ophthalmologic findings in Cohen syndrome. A long-term follow-up

1 reference

12 December 2020

Oral lysine feeding in gyrate atrophy with hyperornithinaemia--a pilot study.

1 reference

12 December 2020

Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia

1 reference

12 December 2020

10.1007/S00439-002-0877-1

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1 reference

PubMed ID

12627297