X linked mental retardation (Q67941705)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1870092%20AND%20SRC:MED&resulttype=core&format=json

19 September 2019

review article

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title

X linked mental retardation (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1870092%20AND%20SRC:MED&resulttype=core&format=json

19 September 2019

author name string

I A Glass

series ordinal

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1870092%20AND%20SRC:MED&resulttype=core&format=json

19 September 2019

publication date

1 June 1991

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1870092%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

19 September 2019

published in

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1870092%20AND%20SRC:MED&resulttype=core&format=json

19 September 2019

volume

28

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19 September 2019

issue

6

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19 September 2019

page(s)

361-371

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Genetic heterogeneity of the ichthyosis, hypogonadism, mental retardation, and epilepsy syndrome. Clinical and biochemical investigations on two patients with Rud syndrome and review of the literature

19 September 2019

cites work

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12 December 2020

Aarskog syndrome: full male and female expression associated with an X-autosome translocation

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12 December 2020

Brief clinical report: an X-linked mental retardation syndrome with craniofacial abnormalities, microcephaly and club foot

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12 December 2020

A new X-linked multiple congenital anomalies/mental retardation syndrome

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12 December 2020

The marker (X) syndrome: a cytogenetic and genetic analysis.

1 reference

12 December 2020

X-linked mental retardation, growth retardation, deafness and microgenitalism. A second familial report.

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12 December 2020

X linked recessive inheritance of agenesis of the corpus callosum

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12 December 2020

X-linked dominant inherited diseases with lethality in hemizygous males

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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

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12 December 2020

Mild mental retardation in children in a northern Swedish county

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12 December 2020

Severe mental handicap in Northern Ireland.

1 reference

12 December 2020

Sex-linked mental retardation, short stature, obesity and hypogonadism: report of a family.

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12 December 2020

The Coffin-Lowry syndrome. Experience from four centres.

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12 December 2020

An X-linked syndrome with microcephaly, severe mental retardation, spasticity, epilepsy and deafness.

1 reference

12 December 2020

X-linked hypogonadism, gynecomastia, mental retardation, short stature, and obesity--a new syndrome

1 reference

12 December 2020

Severe mental retardation in children in a northern Swedish county

1 reference

12 December 2020

Fragile sites on human chromosomes: demonstration of their dependence on the type of tissue culture medium

1 reference

12 December 2020

Recurrence risks in families of children with symmetrical spasticity

1 reference

12 December 2020

Colchester revisited: a genetic study of mental defect

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12 December 2020

X-linked skeletal dysplasia with mental retardation

1 reference

12 December 2020

Lowe's syndrome: identification of carriers by lens examination

1 reference

12 December 2020

1 reference

12 December 2020

The W syndrome. Studies of malformation syndromes of man XXVIII

1 reference

12 December 2020

The nosology of mental retardation: including the report of a survey of 1378 mentally retarded individuals at the Walter E. Fernald State School

1 reference

12 December 2020

A new craniodigital syndrome with mental retardation.

1 reference

12 December 2020

X-chromosomal recessive microcephaly with epilepsy, spastic tetraplegia and absent abdominal reflexes. New variety of "Paine syndrome"?

1 reference

12 December 2020

An inherited syndrome with mental deficiency and endocrine disorder. A patho-anatomical study

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12 December 2020

An aetiological study of 1,000 patients with an I.Q. assessment below 51

1 reference

12 December 2020

The MASA syndrome: a new heritable mental retardation syndrome

1 reference

12 December 2020

A new X-linked recessive disorder with dwarfism, cerebral atrophy, and generalized keratosis follicularis

1 reference

12 December 2020

Theory of X-linkage of major intellectual traits

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12 December 2020

Menkes's kinky hair syndrome. An inherited defect in copper absorption with widespread effects

1 reference

12 December 2020

Counselling in diseases produced either by autosomal or X-linked recessive mutations

1 reference

12 December 2020

Oculo-cerebro-renal syndrome. A review

1 reference

12 December 2020

Tightly linked flanking markers for the Lowe oculocerebrorenal syndrome, with application to carrier assessment

1 reference

12 December 2020

The Lenz microphthalmia syndrome

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12 December 2020

Mental retardation, distinct facial changes, short stature, obesity, and hypogonadism: a new X-linked mental retardation syndrome.

1 reference

12 December 2020

Linkage studies do not confirm the cytogenetic location of incontinentia pigmenti on Xp11

1 reference

12 December 2020

Probable localisation of the Coffin-Lowry locus in Xp22.2-p22.1 by multipoint linkage analysis.

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12 December 2020

X-linked mental retardation: Renpenning revisited

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12 December 2020

Nonspecific X-linked mental retardation II: the frequency in British Columbia.

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12 December 2020

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12 December 2020

The Borjeson-Forssman-Lehmann syndrome. A family study.

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12 December 2020

The orofaciodigital (OFD) syndromes

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12 December 2020

A balanced de novo X/autosome translocation in a girl with manifestations of Lowe syndrome

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12 December 2020

Cognitive profiles and the spectrum of clinical manifestations in heterozygous fra (X) females.

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12 December 2020

On the gates of hell and a most unusual gene

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12 December 2020

X linked hydrocephalus: a survey of a 20 year period in Victoria, Australia

1 reference

12 December 2020

Rud syndrome revisited: ichthyosis, mental retardation, epilepsy and hypogonadism

1 reference

12 December 2020

Norrie's disease: close linkage with genetic markers from the proximal short arm of the X chromosome

1 reference

12 December 2020

Further segregation analysis of the fragile X syndrome with special reference to transmitting males

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12 December 2020

Smith-Fineman-Myers syndrome: report of a third case

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12 December 2020

A community study of severe mental retardation in the West Midlands and the importance of the fragile X chromosome in its aetiology

1 reference

12 December 2020

X-linked syndrome of branchial arch and other defects

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12 December 2020

A new X-linked mental retardation syndrome

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12 December 2020

An X-linked recessive basal ganglia disorder with mental retardation

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12 December 2020

Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. II. Cases without detectable abnormality of the alpha globin complex

1 reference

12 December 2020

Hydrocephalus and congenital clasped thumbs: a case report with electromyographic evaluation

1 reference

12 December 2020

Incontinentia pigmenti. A world statistical analysis

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12 December 2020

The Oculo-Cerebral-Renal Syndrome of Lowe

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12 December 2020

Recurrence risk of mental retardation in sibs

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12 December 2020

A marker X chromosome

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12 December 2020

Sex-linked spastic paraplegia

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12 December 2020

Families with two or more mentally retarded or mentally disturbed siblings: the preponderance of males

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12 December 2020

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

1 reference

12 December 2020

The Aarskog (facio-digito-genital) Syndrome

1 reference

12 December 2020

Evaluation of familial biochemically determined mental retardation in children, with special reference to aminoaciduria.

1 reference

12 December 2020

THE OCULO-CEREBRO-RENAL SYNDROME OF LOWE.

1 reference

12 December 2020

HEREDITARY PARTIAL AGENESIS OF CORPUS CALLOSUM; BIOCHEMICAL AND PATHOLOGICAL STUDIES.

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12 December 2020

The syndrome of sex-linked hydrocephalus

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12 December 2020

An X-linked, recessively inherited syndrome characterized by grave mental deficiency, epilepsy, and endocrine disorder

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12 December 2020

Genetic mapping of new DNA probes at Xq27 defines a strategy for DNA studies in the fragile X syndrome

1 reference

12 December 2020

Linkage analysis in a large family with nonspecific X-linked mental retardation

1 reference

12 December 2020

Unique X-linked mental retardation syndrome with fingertip arches and contractures linked to Xq21.31.

1 reference

12 December 2020

New X-linked mental retardation disorder with Dandy-Walker malformation, basal ganglia disease, and seizures

1 reference

12 December 2020

Computerized approach to X-linked mental retardation syndromes.

1 reference

12 December 2020

Norrie disease resulting from a gene deletion: clinical features and DNA studies

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12 December 2020

Infantile X-linked ataxia and deafness: a new clinicopathologic entity?

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12 December 2020

X-linked olivopontocerebellar atrophy

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12 December 2020

X-linked spastic paraplegia: evidence for homogeneity with a variable phenotype

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12 December 2020

Familial lethal cardiomyopathy with mental retardation and scapuloperoneal muscular dystrophy

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12 December 2020

X-linked motor-sensory neuropathy type-II with deafness and mental retardation: a new disorder

1 reference

12 December 2020

A new X-linked syndrome with muscle atrophy, congenital contractures, and oculomotor apraxia

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12 December 2020

Rett syndrome. A commonly overlooked progressive encephalopathy in girls

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12 December 2020

Physical fine mapping of the choroideremia locus using Xq21 deletions associated with complex syndromes.

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12 December 2020

X-linked dysmorphic syndrome with mental retardation.

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12 December 2020

FG syndrome update 1988: note of 5 new patients and bibliography

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12 December 2020

Monoamine oxidase deficiency in males with an X chromosome deletion

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12 December 2020

Linkage localization of Börjeson-Forssman-Lehmann syndrome.

1 reference

12 December 2020

Börjeson-Forssman-Lehmann syndrome: clinical manifestations and gene localization to Xq26-27.

1 reference

12 December 2020

Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome

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12 December 2020

The recurrence risks for mild idiopathic mental retardation

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12 December 2020

Clinical, cytogenetic, and pedigree findings in 18 cases of Aicardi syndrome.

1 reference

12 December 2020

The relevance of human genetics in the medical curriculum.

1 reference

12 December 2020

MASA syndrome: further clinical delineation and chromosomal localisation

1 reference

12 December 2020

The gene for incontinentia pigmenti is assigned to Xq28.

1 reference

12 December 2020

Incontinentia pigmenti and X-autosome translocations. Non-isotopic in situ hybridization with an X-centromere-specific probe (pSV2X5) reveals a possible X-centromeric breakpoint in one of five published cases

1 reference

12 December 2020

Close linkage of the Wieacker-Wolff syndrome to the DNA segment DXYS1 in proximal Xq.

1 reference

12 December 2020

Linkage studies with the gene for an X-linked syndrome of mental retardation, microcephaly and spastic diplegia (MRX2)

1 reference

12 December 2020

A non-syndromal form of X-linked mental retardation (XLMR) is linked to DXS14.

1 reference

12 December 2020

Linkage analysis suggests at least two loci for X-linked non-specific mental retardation.

1 reference

12 December 2020

Simpson-Golabi-Behmel syndrome: an X-linked encephalo-tropho-schisis syndrome

1 reference

12 December 2020

X-linked mental retardation associated with psoriasis: a new syndrome?

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12 December 2020

X-linked mental retardation with dystonic movements of the hands

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12 December 2020

Variable expression in focal dermal hypoplasia. An example of differential X-chromosome inactivation

1 reference

12 December 2020

1 reference

12 December 2020

X-linked mental retardation with marfanoid habitus

1 reference

12 December 2020

Localization of the gene for a syndrome of X-linked skeletal dysplasia and mental retardation to Xq27-qter.

1 reference

12 December 2020

X-linked hydrocephalus

1 reference

12 December 2020

Fragile X transmission and the determination of carrier probabilities for genetic counseling

1 reference

12 December 2020

1 reference

12 December 2020

Causal origins of major mental handicap in the Canadian Maritime provinces.

1 reference

12 December 2020

A new X-linked mental retardation syndrome

1 reference

12 December 2020

Allan-Herndon syndrome. II. Linkage to DNA markers in Xq21

1 reference

12 December 2020

Allan-Herndon syndrome. I. Clinical studies

1 reference

12 December 2020

Physical mapping of new DNA probes near the fragile X mutation (FRAXA) by using a panel of cell lines

1 reference

12 December 2020

Microdissection of the fragile X region.

1 reference

12 December 2020

Unknown syndrome. A possible new X linked retardation syndrome: dysmorphic facies, microcephaly, hypotonia, and small genitalia

1 reference

12 December 2020

Genetic counseling in rare syndromes: a resampling method for determining an approximate confidence interval for gene location with linkage data from a single pedigree

1 reference

12 December 2020

Population genetic consequences of the fragile-X syndrome, based on the X-inactivation imprinting model.

1 reference

12 December 2020

Human Xq24-Xq28: approaches to mapping with yeast artificial chromosomes

1 reference

12 December 2020

A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases

1 reference

12 December 2020

Fragile X-linked mental retardation: the Martin-Bell syndrome

1 reference

12 December 2020

A new form of X-linked mental retardation with growth retardation, deafness, and microgenitalism.

1 reference

12 December 2020

Four brothers with mental retardation, spastic paraplegia and palmoplantar hyperkeratosis. A new syndrome?

1 reference

12 December 2020

Conference report: International Workshop on the fragile X and X-linked mental retardation.

1 reference

12 December 2020

Mental retardation-clasped thumb syndrome.

1 reference

12 December 2020

X-linked mental retardation associated with bilateral clasp thumb anomaly.

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.28.6.361

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1870092%20AND%20SRC:MED&resulttype=core&format=json

19 September 2019

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1870092%20AND%20SRC:MED&resulttype=core&format=json

19 September 2019

PubMed publication ID

1870092

1 reference