(Q35882720)

10 August 2017

PPM-X: a new X-linked mental retardation syndrome with psychosis, pyramidal signs, and macroorchidism maps to Xq28 (English)

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10 August 2017

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9

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10 August 2017

S Lindsay

1

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10 August 2017

M Splitt

2

1 reference

10 August 2017

S Edney

3

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10 August 2017

T P Berney

4

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10 August 2017

S J Knight

5

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10 August 2017

K E Davies

6

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10 August 2017

O O'Brien

7

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10 August 2017

M Gale

8

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10 August 2017

language of work or name

English

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publication date

1 June 1996

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American Journal of Human Genetics

10 August 2017

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10 August 2017

58

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10 August 2017

6

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10 August 2017

1120-1126

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X linked hydrocephalus and MASA syndrome

10 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915053

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915053

A linkage map of microsatellite markers on the human X chromosome

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915053

The 1993-94 Généthon human genetic linkage map

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915053

Overlapping submicroscopic deletions in Xq28 in two unrelated boys with developmental disorders: identification of a gene near FRAXE.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915053

Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915053

An X-linked recessive basal ganglia disorder with mental retardation

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915053

Chromosomal localization of GABAA receptor subunit genes: relationship to human genetic disease.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915053

Localisation of the MRX3 gene for non-specific X linked mental retardation

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915053

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915053

Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915053

Waisman syndrome, a human X-linked recessive basal ganglia disorder with mental retardation: localization to Xq27.3-qter.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915053

Rapid PCR analysis of the St14 (DXS52) VNTR

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915053

Dinucleotide repeat polymorphism in the human X-linked GABAA receptor alpha 3-subunit gene

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915053

Characterization of a highly polymorphic dinucleotide repeat 150 KB proximal to the fragile X site

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915053

Identification of a second pseudoautosomal region near the Xq and Yq telomeres

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915053

The gene for Aarskog syndrome is located between DXS255 and DXS566 (Xp11.2-Xq13).

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915053

Linkage to Xq28 in a family with nonspecific X-linked mental retardation

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915053

Behavioural disorders: lessons in linkage.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915053

Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915053

Haemophilia A diagnosis by simultaneous analysis of two variable dinucleotide tandem repeats within the factor VIII gene

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915053

The cloning of FRAXF: trinucleotide repeat expansion and methylation at a third fragile site in distal Xqter.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915053

Genetic linkage between X-chromosome markers and bipolar affective illness

24 September 2018

1 reference

12 December 2020

Diminished support for linkage between manic depressive illness and X-chromosome markers in three Israeli pedigrees

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12 December 2020

Dinucleotide repeat polymorphism at the DXS178 locus

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12 December 2020

XLMR genes: update 1994

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12 December 2020

Linkage analysis of bipolar illness with X-chromosome DNA markers: a susceptibility gene in Xq27-q28 cannot be excluded

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12 December 2020

Identifiers

1 reference

10 August 2017

1 reference