(Q30165499)

9 June 2017

Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene (English)

1 reference

9 June 2017

Lebel RR

1

1 reference

9 June 2017

May M

2

1 reference

9 June 2017

Pouls S

3

1 reference

9 June 2017

Lubs HA

4

1 reference

9 June 2017

Stevenson RE

5

1 reference

9 June 2017

Schwartz CE

6

1 reference

9 June 2017

1 February 2002

1 reference

9 June 2017

1 reference

9 June 2017

61

1 reference

9 June 2017

139-145

1 reference

9 June 2017

2

1 reference

9 June 2017

XLMR genes: update 2000.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610209.X

Splitting and lumping in the nosology of XLMR.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610209.X

9th international workshop on fragile X syndrome and X-linked mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610209.X

Nomenclature guidelines for X-linked mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610209.X

A new X linked recessive syndrome of mental retardation and mild dysmorphism maps to Xq28.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610209.X

X-linked mental retardation with variable stature, head circumference, and testicular volume linked to Xq12-q21.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610209.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610209.X

Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: Clinical and psychometric data and results of linkage analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610209.X

Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610209.X

Mutation analysis of the RSK2 gene in Coffin-Lowry patients: extensive allelic heterogeneity and a high rate of de novo mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610209.X

Rapid immunoblot and kinase assay tests for a syndromal form of X linked mental retardation: Coffin-Lowry syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610209.X

Regional localisation of a non-specific X-linked mental retardation gene (MRX19) to Xp22

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610209.X

Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610209.X

A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610209.X

MECP2 mutation in male patients with non-specific X-linked mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610209.X

MECP2 is highly mutated in X-linked mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610209.X

A familial syndrome of short stature associated with facial dysplasia and genital anomalies

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610209.X

Aarskog syndrome: the changing phenotype with age.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610209.X

Aarskog-Scott syndrome: confirmation of linkage to the pericentromeric region of the X chromosome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610209.X

Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative Rho/Rac guanine nucleotide exchange factor

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610209.X

Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610209.X

A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog-Scott syndrome)

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610209.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610209.X

inferred from DOI database lookup

7 January 2021

based on heuristic

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610209.X

inferred from DOI database lookup

7 January 2021

based on heuristic

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610209.X

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1034/J.1399-0004.2002.610209.X

1 reference

9 June 2017

1 reference