Splitting and lumping in the nosology of XLMR. (Q34306122)

1 August 2017

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title

Splitting and lumping in the nosology of XLMR. (English)

1 reference

1 August 2017

Stevenson RE

1

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1 August 2017

1 January 2000

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American Journal of Medical Genetics Part A

1 August 2017

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1 August 2017

97

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1 August 2017

174-182

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1 August 2017

3

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Mind the GAP, Rho, Rab and GDI.

1 August 2017

1 reference

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

21 January 2018

1 reference

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Physical mapping across the fragile X: hypermethylation and clinical expression of the fragile X syndrome

21 January 2018

1 reference

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The MASA syndrome: A new heritable mental retardation syndrome

21 January 2018

1 reference

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Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor.

21 January 2018

1 reference

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New X-linked mental retardation (XLMR) syndrome with distinct facial appearance and growth retardation.

21 January 2018

1 reference

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Breakthroughs in molecular and cellular mechanisms underlying X-linked mental retardation

21 January 2018

1 reference

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

21 January 2018

1 reference

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Mutations in GDI1 are responsible for X-linked non-specific mental retardation

21 January 2018

1 reference

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Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Collaborative Fragile X Study Group

21 January 2018

1 reference

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Clinical and hematologic aspects of the X-linked alpha-thalassemia/mental retardation syndrome (ATR-X).

21 January 2018

1 reference

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A newly defined X linked mental retardation syndrome associated with alpha thalassaemia

21 January 2018

1 reference

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Nonsyndromic X-linked mental retardation: review and mapping of MRX29 to Xp21

21 January 2018

1 reference

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

21 January 2018

1 reference

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X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene

21 January 2018

1 reference

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Linkage studies of X-linked recessive spastic paraplegia using DNA probes.

21 January 2018

1 reference

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Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation.

21 January 2018

1 reference

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Fragile X syndrome at the turn of the century.

21 January 2018

1 reference

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An etiological survey of the severely retarded Hertfordshire children who were born between January 1, 1965 and December 31, 1967

21 January 2018

1 reference

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A New Dominant Gene Mental Retardation Syndrome

21 January 2018

1 reference

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A PEDIGREE OF MENTAL DEFECT SHOWING SEX-LINKAGE.

21 January 2018

1 reference

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A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation

21 January 2018

1 reference

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The site of a missense mutation in the extracellular Ig or FN domains of L1CAM influences infant mortality and the severity of X linked hydrocephalus

21 January 2018

1 reference

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

21 January 2018

1 reference

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Nomenclature guidelines for X-linked mental retardation

21 January 2018

1 reference

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Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome

21 January 2018

1 reference

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A family with the Coffin Lowry syndrome revisited: localization of CLS to Xp21-pter.

21 January 2018

1 reference

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MASA syndrome: new clinical features and linkage analysis using DNA probes

21 January 2018

1 reference

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Renpenning syndrome maps to Xp11.

21 January 2018

1 reference

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

21 January 2018

1 reference

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The Coffin-Lowry syndrome: an inherited faciodigital mental retardation syndrome

21 January 2018

1 reference

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Renpenning's syndrome--X-linked mental retardation.

21 January 2018

1 reference

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

21 January 2018

1 reference

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Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200023%2997%3A3%3C174%3A%3AAID-AJMG1034%3E3.0.CO%3B2-4

21 January 2018

1 reference

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MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200023%2997%3A3%3C174%3A%3AAID-AJMG1034%3E3.0.CO%3B2-4

X linked alpha thalassaemia/mental retardation: spectrum of clinical features in three related males

21 January 2018

1 reference

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Report of the DNA committee and catalogues of cloned and mapped genes, markers formatted for PCR and DNA polymorphisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200023%2997%3A3%3C174%3A%3AAID-AJMG1034%3E3.0.CO%3B2-4

Mental retardation-clasped thumb syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200023%2997%3A3%3C174%3A%3AAID-AJMG1034%3E3.0.CO%3B2-4

Fragile X genotype characterized by an unstable region of DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200023%2997%3A3%3C174%3A%3AAID-AJMG1034%3E3.0.CO%3B2-4

10.1002/1096-8628(200023)97:3<174::AID-AJMG1034>3.0.CO;2-4

21 January 2018

Identifiers

DOI

1 reference

1 August 2017

1 reference

PubMed ID

11449485