X-linked dominant inherited diseases with lethality in hemizygous males (Q39109681)

9 September 2017

X-linked dominant inherited diseases with lethality in hemizygous males (English)

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9 September 2017

R Wettke-Schäfer

1

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PubMed ID

6873941

9 September 2017

G Kantner

series ordinal

2

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PubMed ID

6873941

9 September 2017

language of work or name

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1 January 1983

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9 September 2017

23

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inferred from page(s)

published in

Human Genetics

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9 September 2017

64

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9 September 2017

1-23

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9 September 2017

1

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https://scigraph.springernature.com/pub.10.1007/bf00289472

9 September 2017

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cites work

Agenesis of the corpus callosum, infantile spasms, ocular anomalies (Aicardi's syndrome). Clinical and pathologic findings.

1 reference

https://api.crossref.org/works/10.1007%2FBF00289472

EEG Recognition of Aicardi's Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00289472

AN UNDIAGNOSED BONE DYSPLASIA

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00289472

Ocular Manifestations of Focal Dermal Hypoplasia Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00289472

[X-linked dominant chondrodysplasia punctata (author's transl)]

21 January 2018

1 reference

12 December 2020

Hyperammonaemia due to ornithine transcarbamylase deficiency

1 reference

12 December 2020

Melnick-Needles syndrome: indication for an autosomal recessive form

1 reference

12 December 2020

HEREDITARY CATARACTS AND MICROPHTHALMIA

1 reference

12 December 2020

Hyperammonemia due to a defect in hepatic ornithine transcarbamylase

1 reference

12 December 2020

Heterogeneity of Chondrodysplasia punctata

1 reference

12 December 2020

Carrier detection in ornithine transcarbamylase deficiency

1 reference

12 December 2020

Reye's syndrome due to a novel protein-tolerant variant of ornithine-transcarbamylase deficiency.

1 reference

12 December 2020

The Aicardi Syndrome in a 47, XXY Male

1 reference

12 December 2020

Focal dermal hypoplasia. A nine-year follow-up study

1 reference

12 December 2020

A case of focal dermal hypoplasia syndrome (Goltz) with bilateral cheilo-gnatho-palatoschisis.

1 reference

12 December 2020

Half chromatid mutations: transmission in humans?

1 reference

12 December 2020

Incontinentia Pigmenti: Clinical and Genetical Studies of two Familial Cases

1 reference

12 December 2020

Osteopathia striata and focal dermal hypoplasia

1 reference

12 December 2020

Skin manifestations of Conradi's disease. Chondrodystrophia congenita punctata

1 reference

12 December 2020

Orodigitofacial dysostosis--a new syndrome. A study of 22 cases

1 reference

12 December 2020

Letter: Half chromatid mutations may explain incontinentia pigmenti in males

1 reference

12 December 2020

[On the problem of heredity in Bloch-Siemens incontinentia pigmenti.]

1 reference

12 December 2020

Autosomal dominant inheritance of cleft palate and synechias between the palate and floor of the mouth or tongue

1 reference

12 December 2020

Goltz's syndrome in a boy

1 reference

12 December 2020

Lethal neonatal hyperammonaemia due to complete ornithine-transcarbamylase deficiency.

1 reference

12 December 2020

Oral facial digital syndrome-case report and review of the literature

1 reference

12 December 2020

[Orofaciodigital syndrome. Apropos of an 11th case in the same family]

1 reference

12 December 2020

Goltz's syndrome: focal dermal dysplasia syndrome (focal dermal hypoplasia): report of a case and on its etiology and pathogenesis

1 reference

12 December 2020

Partial-trisomy syndromes. II. An insertion as cause of the OFD syndrome in mother and daughter

1 reference

12 December 2020

Incontinentia Pigmenti in a 21-Year-Old Man

1 reference

12 December 2020

Incontinentia pigmenti. Report of a case with persistent activity into adult life

1 reference

12 December 2020

Incontinentia pigmenti

1 reference

12 December 2020

Hyperornithinemia, hyperammonemia, and homocitrullinuria. A new disorder of amino acid metabolism associated with myoclonic seizures and mental retardation

1 reference

12 December 2020

[On the genetics of incontinentia pigmenti.]

1 reference

12 December 2020

Syndrome characterized by lingual malformation, Polydactyly, tachypnea, and psychomotor retardation (Mohr syndrome)

1 reference

12 December 2020

Johanson--Blizzard syndrome

1 reference

12 December 2020

Skin Markers of X-Linked Dominant Chondrodysplasia Punctata

1 reference

12 December 2020

Focal dermal hypoplasia. Ocular and general manifestations with a survey of the literature

1 reference

12 December 2020

Bloch-Sulzberger Syndrome (incontinentia pigmenti).

1 reference

12 December 2020

Hyperammonaemia: a deficiency of liver ornithine transcarbamylase. Occurrence in mother and child

1 reference

12 December 2020

1 reference

12 December 2020

STUDIES OF A FAMILY WITH THE ORAL-FACIAL-DIGITAL SYNDROME.

1 reference

12 December 2020

Oral-facial-digital syndrome, with polycystic kidneys and liver: pathological and cytogenetic studies

1 reference

12 December 2020

Evidence for x-linked dominant inheritance of ornithine transcarbamylase deficiency.

1 reference

12 December 2020

The therapy of hyperammonemia due to ornithine transcarbamylase defiency in a male neonate

1 reference

12 December 2020

Possible mechanisms of X chromosome inactivation.

1 reference

12 December 2020

Goltz's syndrome: focal dermal hypoplasia. A combined mesoectodermal dysplasia

1 reference

12 December 2020

Incontinentia Pigmenti and Defective Neutrophil Chemotaxis

1 reference

12 December 2020

Oral-facial-digital syndrome in a chromosomally normal male

1 reference

12 December 2020

The oral-facial-digital syndrome: a multiple congenital condition of females with associated chromosomal abnormalities

1 reference

12 December 2020

Cerebral dysfunction in asymptomatic carriers of ornithine transcarbamylase deficiency

1 reference

12 December 2020

Duane's syndrome and familial perceptive deafness

1 reference

12 December 2020

Incontinentia pigmenti in a newborn boy

1 reference

12 December 2020

Oral-facial-digital syndrome

1 reference

12 December 2020

Hypomelanosis cutis ITO (author's transl)

1 reference

12 December 2020

[Forms of congenital poikiloderma]

1 reference

12 December 2020

Presence of anti-cytoplasmic antibodies in a case of incontinentia pigmenti

1 reference

12 December 2020

FOCAL DERMAL HYPOPLASIA SYNDROME

1 reference

12 December 2020

Focal dermal hypoplasia syndrome. A review of the literature and report of two cases

1 reference

12 December 2020

Focal dermal hypoplasia; considerations on osteopathia striata and on the genetic problem

1 reference

12 December 2020

[BNS convulsions and Aicardi syndrome]

1 reference

12 December 2020

Familial lipoatrophic diabetes with dominant transmission. A new syndrome.

1 reference

12 December 2020

Focal dermal hypoplasia with keratoconus, papillomatosis of esophagus and hidrocystomas (author's transl)

1 reference

12 December 2020

The Johanson-Blizzard syndrome: case report and autopsy findings

1 reference

12 December 2020

[A cervico-oculo-acoustic nerve syndrome.]

1 reference

12 December 2020

[On incontinentia pigmenti and differentiation of two syndromes appearing under the same name]

1 reference

12 December 2020

Sex-linked type of chondrodysplasia punctata due to a new mutation

1 reference

12 December 2020

Ornithine transcarbamylase deficiency: a cause of lethal neonatal hyperammonemia in males

1 reference

12 December 2020

New data on the genetics and classification of muscular dystrophies

1 reference

12 December 2020

Chondrodystrophia calcificans congenita (Conradi's disease) with cutaneous changes

1 reference

12 December 2020

Incontinentia pigmenti: a chromosomal breakage syndrome

1 reference

12 December 2020

Focal dermal hypoplasia (Goltz's syndrome) manifesting as condyloma acuminatum: report of a case and review of the literature

1 reference

12 December 2020

Electron microscopy of incontinentia pigmenti

1 reference

12 December 2020

Pilosebaceous dysplasia in the oral-facial-digital syndrome

1 reference

12 December 2020

Incontinentia pigmenti in Arizona Indians including transmission from mother to son inconsistent with the half chromatid mutation model

1 reference

12 December 2020

Incontinentia pigment: a report of three cases in one family

1 reference

12 December 2020

[Hereditary abnormality of the buccal mucosa: abnormal bands and frenula.]

1 reference

12 December 2020

[Incontinentia pigmenti.]

1 reference

12 December 2020

X-linked transmission of ornithine-transcarbamylase deficiency

1 reference

12 December 2020

The aicardi syndrome: Report of 4 cases and review of the literature

1 reference

12 December 2020

Severe achondroplasia: demonstration of probable heterogeneity within this clinical syndrome

1 reference

12 December 2020

Lipodystrophy of the extremities. A dominantly inherited syndrome associated with lipatrophic diabetes

1 reference

12 December 2020

The Goltz-Gorlin syndrome. Review and case reports

1 reference

12 December 2020

Klinefelter's syndrome and incontinentia pigmenti Bloch-Sulzberger

1 reference

12 December 2020

[Studies on a family with orofaciodigital syndrome]

1 reference

12 December 2020

[Spasma-in-flexion syndrome, callosal agenesis, chorioretinal abnormalities]

1 reference

12 December 2020

[Incontinentia pigmenti Bloch Sulzberger in two generations (author's transl)]

1 reference

12 December 2020

Partial ornithine transcarbamylase deficiency simulating Reye syndrome

1 reference

12 December 2020

OROFACIODIGITAL SYNDROME IN A MALE: CASE REPORT

1 reference

12 December 2020

Chromosome breakage in incontinentia pigmenti

1 reference

12 December 2020

Polycystic kidney disease in a patient with the oral-facial-digital syndrome-Type I*

1 reference

12 December 2020

Cervico-oculo-acusticus syndrome with pseudopapilloedema

1 reference

12 December 2020

The oro-facial-digital syndrome

1 reference

12 December 2020

Focal dermal hypoplasia symdrome in a male

1 reference

12 December 2020

Lethal chondrodysplasia punctata

1 reference

12 December 2020

Focal dermal hypoplasia in a 46, XY male

1 reference

12 December 2020

Genetic and clinical heterogeneity in the oral-facial-digital syndromes

1 reference

12 December 2020

On the inheritance of incontinentia pigmenti

1 reference

12 December 2020

Aicardi syndrome in a male infant

1 reference

12 December 2020

Prenatal monitoring and genetic counseling in a 47, XXX female with the oro-facial digital syndrome-type 1.

1 reference

12 December 2020

[INCONTINENTIA PIGMENTI. REPORT OF NINE CASES IN ONE FAMILY AND ON ONE NECROSPY INVESTIGATION.]

1 reference

12 December 2020

Mental retardation and dermatoglyphics in a family with the oral-facial-digital syndrome.

1 reference

12 December 2020

A previously unreported, dominantly inherited syndrome of shortness of stature, ear malformations, and hip dislocation: the coxoauricular syndrome--autosomal or X-linked male-lethal.

1 reference

12 December 2020

Mohr syndrome with subclinical expression of the bifid great toe.

1 reference

12 December 2020

[Microphthalmia, microcornea and congenital cataract]

1 reference

12 December 2020

Omphalocele and multiple severe congenital anomalies associated with osteodysplasty (Melnick-Needles syndrome)

1 reference

12 December 2020

Special female hermaphroditism associated with multiple disorders

1 reference

12 December 2020

Cataracts as a marker of genetic heterogeneity in chondrodysplasia punctata

1 reference

12 December 2020

Hyperammonaemia. A new instance of an inborn enzymatic defect of the biosynthesis of urea

1 reference

12 December 2020

Chromosomal breakage in incontinentia pigmenti. Study of a family

1 reference

12 December 2020

Incontinentia Pigmenti and Klinefelter Syndrome

1 reference

12 December 2020

Ornithine transcarbamylase deficiency. Unsuccessful therapy of neonatal hyperammonemia with N-carbamyl-L-glutamate and L-arginine

1 reference

12 December 2020

Exocrine pancreatic insufficiency with congenital anomalies

1 reference

12 December 2020

X-chromosome inactivation in human liver: confirmation of X-linkage of ornithine transcarbamylase

1 reference

12 December 2020

Sex-linked chondrodysplasia punctata?

1 reference

12 December 2020

Agenesis of the corpus callosum, infantile spasms, spastic quadriplegia, microcephaly and severe mental retardation in three siblings

1 reference

12 December 2020

Chromosomal instability in incontinentia pigmenti

1 reference

12 December 2020

Incontinentia Pigmenti

1 reference

12 December 2020

A case of focal dermal hypoplasia (Goltz syndrome) with some new aspects

1 reference

12 December 2020

Ectodermal dysplasia and exocrine pancreatic insufficiency--a familial syndrome

1 reference

12 December 2020

Dominant sex-linked inherited chondrodysplasia punctata: a distinct type of chondrodysplasia punctata

1 reference

12 December 2020

Metabolic studies in familial partial lipodystrophy of the lower trunk and extremities

1 reference

12 December 2020

Johanson-Blizzard syndrome in a large inbred kindred with three involved members

1 reference

12 December 2020

[Aicardi syndrome with a cell-mediated immunity defect]

1 reference

12 December 2020

Oculodentodigital Dysplasia

1 reference

12 December 2020

The Wildervanck Syndrome: Cervico-Oculo-Acoustic Dysplasia

1 reference

12 December 2020

The Aicardi syndrome versus congenital infection: diagnostic considerations.

1 reference

12 December 2020

Wildervanck's syndrome and congenital rubella

1 reference

12 December 2020

Focal dermal hypoplasia

1 reference

12 December 2020

A syndrome of congenital aplasia of the alae nasi, deafness, hypothyroidism, dwarfism, absent permanent teeth, and malabsorption

1 reference

12 December 2020

Hereditary Myopathy Limited to Females

1 reference

12 December 2020

Incontinentia pigmenti (Bloch-Sulzberger syndrome). A report of four additional cases

1 reference

12 December 2020

Studies of malformation syndromes of man 33: the FG syndrome. An X-linked recessive syndrome of multiple congenital anomalies and mental retardation.

1 reference

12 December 2020

Diaphragmatic hernia in a female newborn with focal dermal hypoplasia and marked asymmetric malformations (Goltz-Gorlin Syndrome)

1 reference

12 December 2020

Agenesis of corpus callosum, ocular, and skeletal anomalies (X-linked dominant Aicardi's syndrome) in a girl with balanced X/3 translocation

1 reference

12 December 2020

X-linked or autosomal dominant, lethal in the male, inheritance of the Melnick-Needles (osteodysplasty) syndrome? A reappraisal

1 reference

12 December 2020

A syndrome of congenital hypoplasia of the alae nasi,situs inversus, and severe hypoproteinemia in two siblings

1 reference

12 December 2020

Trypsinogen deficiency disease

1 reference

12 December 2020

Periodic attacks of lethargy in a baby with ammonia intoxication due to a congenital defect in ureogenesis

1 reference

12 December 2020

Congenital malformations associated with maternal osteodysplasty. A new malformation complex

1 reference

12 December 2020

X-linked dominant chondrodysplasia punctata. Review of literature and report of a case

1 reference

12 December 2020

Unusual case of XXY Klinefelter's syndrome with pancreatic insufficiency, hypothyroidism, deafness, chronic lung disease, dwarfism and microcephaly

1 reference

12 December 2020

Incontinentia pigmenti in a boy

1 reference

12 December 2020

Incontinentia pigmenti

1 reference

12 December 2020

Sex chromatin and gene action in the mammalian X-chromosome

1 reference

12 December 2020

Incontinentia pigmenti. A world statistical analysis

1 reference

12 December 2020

Focal dermal hypoplasia (Goltz syndrome) in a male

1 reference

12 December 2020

Goltz-Gorlin-syndrome

1 reference

12 December 2020

The oral-facial-digital syndrome: a male-lethal condition in a boy with 47/xxy chromosomes

1 reference

12 December 2020

Identity of two syndromes. Proteolytic, lipolytic, and amylolytic deficiency of the exocrine pancreas with congenital anomalies.

1 reference

12 December 2020

The CHILD syndrome. Congenital hemidysplasia with ichthyosiform erythroderma and limb defects

1 reference

12 December 2020

Mohr's syndrome : type II orofaciodigital syndrome (author's transl)

1 reference

12 December 2020

X-linked dominant chondrodysplasia punctata: an osteocutaneous syndrome

1 reference

12 December 2020

Three sisters with encephalitis in a family with Bloch-Sulzberger syndrome. Possible significance of infectious processes for pathogenesis of CNS involvement

1 reference

12 December 2020

Ito's syndrome (incontinentia pigmenti achromians)

1 reference

12 December 2020

Orofaciodigital syndrome, type I: a phenotypic and genetic analysis

1 reference

12 December 2020

Hyperammonemia due to a mutant enzyme of ornithine transcarbamylase

1 reference

12 December 2020

Hyperammonaemia. A variant type of deficiency of liver ornithine transcarbamylase

1 reference

12 December 2020

Oral-facial-digital syndrome. A case with necropsy findings.

1 reference

12 December 2020

Chondrodystrophia calcificans congenita (Conradi's disease) in a mother and her child

1 reference

12 December 2020

Peritoneal dialysis in the reduction of blood ammonia levels in a case of hyperammonaemia

1 reference

12 December 2020

Follicular atrophoderma and pseudopelade associated with chondrodystrophia calcificans congenita

1 reference

12 December 2020

Focal dermal hypoplasia

1 reference

12 December 2020

Incontinentia pigmenti. Evidence for both neutrophil and lymphocyte dysfunction

1 reference

12 December 2020

X-linked dominant ichthyosis

1 reference

12 December 2020

Report of a case of Goltz-Gorlin syndrome

1 reference

12 December 2020

2 cases of polycystic kidney in adults associated with the oral-facial-digital syndrome (proceedings)

1 reference

12 December 2020

Incontinentia pigmenti. A four-generation study

1 reference

12 December 2020

Chondrodysplasia punctata. Conradi-Hünermann syndrome

1 reference

12 December 2020

Proteolytic and lipolytic deficiency of the exocrine pancreas

1 reference

12 December 2020

The genetics of incontinentia pigmenti

1 reference

12 December 2020

[Johanson-Blizzard's syndrome: another cause of pancreatic lipomatosis (author's transl)]

1 reference

12 December 2020

The differential diagnosis of Papillon-Lénge-Psaume-syndrome and Mohr's syndrome

1 reference

12 December 2020

An undiagnosed bone dysplasia. A 2 family study of 4 generations and 3 generations

1 reference

12 December 2020

Ornitbine transcarbamylase deficiency in the newborn infant

1 reference

12 December 2020

Depigmented lesions in incontinentia pigmenti. A useful diagnostic sign

1 reference

12 December 2020

[Abnormalities of the buccal frena]

1 reference

12 December 2020

Striation of bones in focal dermal hypoplasia: manifestation of functional mosaicism?

1 reference

12 December 2020

Genetic interpretation of linear skin abnormalities

1 reference

12 December 2020

[Unilateral incontinentia pigmenti in a male patient (author's transl)]

1 reference

12 December 2020

Focal dermal hypoplasia in a father and daughter

1 reference

12 December 2020

Incontinentia pigmenti. Study of 7 cases, 2 in men (author's transl)

1 reference

12 December 2020

Focal dermal hypoplasia with apocrine nevi and striation of bones (author's transl)

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00289472

1 reference

9 September 2017

1 reference

PubMed ID

6873941