Molecular-clinical spectrum of the ATR-X syndrome

Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion

2000 • 1,771 citations

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

1995 • 604 citations

Evidence that SNF2/SWI2 and SNF5 activate transcription in yeast by altering chromatin structure.

1992 • 535 citations

Mutations in ATRX, encoding a SWI/SNF-like protein, cause diverse changes in the pattern of DNA methylation

2000 • 494 citations

A review of the molecular genetics of the human alpha-globin gene cluster

1989 • 443 citations

A review of the molecular genetics of the human alpha-globin gene cluster

1989 • 427 citations

The SNF/SWI family of global transcriptional activators

1994 • 269 citations

Localization of a putative transcriptional regulator (ATRX) at pericentromeric heterochromatin and the short arms of acrocentric chromosomes

1999 • 252 citations

ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome

1996 • 250 citations

Hemoglobin H Disease and Mental Retardation

1981 • 151 citations

Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. I. Cases due to deletions involving chromosome band 16p13.3.

1990 • 129 citations

Clinical and hematologic aspects of the X‐linked α‐thalassemia/mental retardation syndrome (ATR‐X)

1995 • 125 citations

Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. II. Cases without detectable abnormality of the alpha globin complex.

1990 • 117 citations

X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis.

1992 • 116 citations

A nonsense mutation of theATRX gene causing mild mental retardation and epilepsy

2000 • 72 citations

Comparison of the human and murine ATRX gene identifies highly conserved, functionally important domains

1998 • 70 citations

A novel mutation in the putative DNA helicase XH2 is responsible for male-to-female sex reversal associated with an atypical form of the ATR-X syndrome.

1996 • 67 citations

Splicing mutation in the ATR-X gene can lead to a dysmorphic mental retardation phenotype without alpha-thalassemia.

1996 • 65 citations

X‐linked α‐thalassemia/mental retardation (ATR‐X) syndrome: A new kindred with severe genital anomalies and mild hematologic expression

1995 • 46 citations

Identification of a mutation in theXNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome

2000 • 38 citations

A Point Mutation in the XNP Gene, Associated with an ATR-X Phenotype without a-Thalassemia

1996 • 37 citations

The non-deletion alpha thalassaemia/mental retardation syndrome: further support for X linkage.

1991 • 34 citations

Germline and gonosomal mosaicism in the ATR-X syndrome

1999 • 28 citations

Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome.

1999 • 24 citations

Two unrelated patients with inversions of the X chromosome and non-specific mental retardation: physical and transcriptional mapping of their common breakpoint region in Xq13.1

1999 • 14 citations

New mutations in XNP/ATR-X gene: a further contribution to genotype/phenotype relationship in ATR/X syndrome. Mutations in brief no. 176. Online.

1998 • 14 citations