(Q34025863)

30 July 2017

A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25. (English)

1 reference

30 July 2017

D A Cabezas

1

1 reference

30 July 2017

R Slaugh

2

1 reference

30 July 2017

F Abidi

3

1 reference

30 July 2017

J F Arena

4

1 reference

30 July 2017

R E Stevenson

5

1 reference

30 July 2017

C E Schwartz

6

1 reference

30 July 2017

H A Lubs

7

1 reference

30 July 2017

language of work or name

English

0 references

publication date

1 September 2000

1 reference

Journal of Medical Genetics

30 July 2017

1 reference

30 July 2017

37

1 reference

30 July 2017

663-668

1 reference

30 July 2017

9

1 reference

X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27.

30 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734699

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734699

5 July 2018

XLMR genes: update 1998.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734699

5 July 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=1734699

A comprehensive genetic map of the human genome based on 5,264 microsatellites

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734699

Faster sequential genetic linkage computations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734699

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734699

Spastic paraplegia with iron deposits in the basal ganglia: a new X-linked mental retardation syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734699

X-linked mental retardation syndrome with seizures, hypogammaglobulinemia, and progressive gait disturbance is regionally mapped between xq21.33 and Xq23.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734699

X-linked mental retardation with isolated growth hormone deficiency is mapped to Xq22-Xq27.2 in one family

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734699

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734699

Automation of genetic linkage analysis using fluorescent microsatellite markers

29 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10978355

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Familial X-linked mental retardation and isolated growth hormone deficiency: clinical and molecular findings

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10978355

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.37.9.663

1 reference

30 July 2017

1 reference

30 July 2017

1 reference