(Q33681711)

28 July 2017

A family with mental retardation, variable macrocephaly and macro-orchidism, and linkage to Xq12-q21. (English)

1 reference

28 July 2017

Johnson JP

1

1 reference

28 July 2017

Nelson R

series ordinal

2

1 reference

28 July 2017

Schwartz CE

series ordinal

3

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 December 1998

1 reference

Journal of Medical Genetics

28 July 2017

1 reference

28 July 2017

35

1 reference

28 July 2017

1026-1030

1 reference

28 July 2017

12

1 reference

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

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051516

21 June 2018

XLMR genes: update 1996.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051516

Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051516

Nonspecific X-linked mental retardation I: a review with information from 24 new families

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051516

Significance of phenotypic and chromosomal abnormalities in X-linked mental retardation (Martin-Bell or Renpenning syndrome).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051516

Linkage studies in Menkes' disease. The Xg blood group system and C-banding of the X chromosome.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051516

The diagnosis and frequency of X-linked conditions in a cohort of moderately retarded males with affected brothers

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051516

Screening of mentally retarded males for macro-orchidism and the fragile X chromosome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051516

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051516

X-linked mental retardation.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051516

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051516

Recurrent myoglobinuria in a child with mental retardation: phosphoglycerate kinase deficiency.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051516

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051516

Gene localisation for Sutherland-Haan syndrome (SHS:MIM 309470)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051516

X-linked mental retardation with heterozygous expression and macrocephaly: pericentromeric gene localization.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051516

Non-specific X-linked mental retardation: linkage analysis in MRX2 and MRX4 families revisited.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051516

No apparent involvement of the FMR1 gene in five patients with phenotypic manifestations of the fragile X syndrome.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051516

Macroorchidism and fragile X in mentally retarded males. Clinical, cytogenetic, and some hormonal investigations in mentally retarded males, including two with the fragile site at Xq28, fra(X)(q28)

30 October 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Gene localisation for Wilson-Turner syndrome (WTS:MIM 309585)

1 reference

12 December 2020

How many X-linked genes for non-specific mental retardation (MRX) are there?

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.35.12.1026

1 reference

release_iaeidu7ebvhvnksboxc2ucedfy

28 July 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/iaeidu7ebvhvnksboxc2ucedfy

24 November 2022

mapped directly with Wikidata item

PMCID

1051516

1 reference

28 July 2017

1 reference