(Q35430777)

English

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

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scholarly article

1 reference

Europe PubMed Central

8 August 2017

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

1 reference

Europe PubMed Central

8 August 2017

0 references

Severe mental retardation

1 reference

based on heuristic

inferred from title

author name string

A L Christianson

1

1 reference

Europe PubMed Central

8 August 2017

R E Stevenson

2

1 reference

Europe PubMed Central

8 August 2017

C H van der Meyden

3

1 reference

Europe PubMed Central

8 August 2017

J Pelser

4

1 reference

Europe PubMed Central

8 August 2017

F W Theron

5

1 reference

Europe PubMed Central

8 August 2017

P L van Rensburg

6

1 reference

Europe PubMed Central

8 August 2017

M Chandler

7

1 reference

Europe PubMed Central

8 August 2017

C E Schwartz

8

1 reference

Europe PubMed Central

8 August 2017

language of work or name

0 references

publication date

1 October 1999

1 reference

Europe PubMed Central

8 August 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

8 August 2017

36

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Europe PubMed Central

8 August 2017

10

1 reference

Europe PubMed Central

8 August 2017

759-766

1 reference

Europe PubMed Central

8 August 2017

Localization of the gene (or genes) for a syndrome with X-linked mental retardation, ataxia, weakness, hearing impairment, loss of vision and a fatal course in early childhood.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734236

27 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=1734236

27 July 2018

Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734236

27 July 2018

New X-linked syndrome with severe mental retardation, severely impaired vision, severe hearing defect, epileptic seizures, spasticity, restricted joint mobility, and early death

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734236

27 July 2018

The gene for hereditary bullous dystrophy, X-linked macular type, maps to the Xq27.3-qter region.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734236

27 July 2018

A new X-linked syndrome comprising progressive basal ganglion dysfunction, mental and growth retardation, external ophthalmoplegia, postnatal microcephaly and deafness

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734236

27 July 2018

Isolation and characterization of a full-length expressible cDNA for human hypoxanthine phosphoribosyl transferase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734236

27 July 2018

Theory of X-linkage of major intellectual traits

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734236

27 July 2018

Construction of human linkage maps: likelihood calculations for multilocus linkage analysis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734236

27 July 2018

Mapping the Lowe oculocerebrorenal syndrome to Xq24-q26 by use of restriction fragment length polymorphisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734236

27 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734236

27 July 2018

XLMR genes: update 1990.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734236

27 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734236

27 July 2018

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734236

27 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734236

27 July 2018

Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734236

26 September 2018

Recurrence risk of mental retardation in sibs

1 reference

https://pubmed.ncbi.nlm.nih.gov/10528855

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sixth International Workshop on Human X Chromosome Mapping 1995. Banff, Alberta, Canada, June 16-18, 1995. Report and abstracts

1 reference

https://pubmed.ncbi.nlm.nih.gov/10528855

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X linked mental retardation

1 reference

https://pubmed.ncbi.nlm.nih.gov/10528855

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/10528855

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Refinement of the background genetic map of Xq26-q27 and gene localisation for Börjeson-Forssman-Lehmann Syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/10528855

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.36.10.759

1 reference

Europe PubMed Central

8 August 2017

1 reference

Europe PubMed Central

8 August 2017

1 reference

Europe PubMed Central

8 August 2017

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