PubMed

Alpha thalassaemia-mental retardation, X linked.

Gibbons R.

Orphanet J Rare Dis. 2006 May 4;1:15. Review.PMID: 16722615 [PubMed - indexed for MEDLINE]Related articlesFree article

[X-linked alpha-thalassemia/mental retardation syndrome]

Wada T.

Rinsho Byori. 2009 Apr;57(4):382-90. Review. Japanese. PMID: 19489441 [PubMed - indexed for MEDLINE]Related articles

Mutations in the chromatin-associated protein ATRX.

Gibbons RJ, Wada T, Fisher CA, Malik N, Mitson MJ, Steensma DP, Fryer A, Goudie DR, Krantz ID, Traeger-Synodinos J.

Hum Mutat. 2008 Jun;29(6):796-802.PMID: 18409179 [PubMed - indexed for MEDLINE]Related articles

Non-skewed X-inactivation may cause mental retardation in a female carrier of X-linked alpha-thalassemia/mental retardation syndrome (ATR-X): X-inactivation study of nine female carriers of ATR-X.

Wada T, Sugie H, Fukushima Y, Saitoh S.

Am J Med Genet A. 2005 Sep 15;138(1):18-20.PMID: 16100724 [PubMed - indexed for MEDLINE]Related articles

Partial duplications of the ATRX gene cause the ATR-X syndrome.

Thienpont B, de Ravel T, Van Esch H, Van Schoubroeck D, Moerman P, Vermeesch JR, Fryns JP, Froyen G, Lacoste C, Badens C, Devriendt K.

Eur J Hum Genet. 2007 Oct;15(10):1094-7. Epub 2007 Jun 20.PMID: 17579672 [PubMed - indexed for MEDLINE]Related articlesFree article

ATRX syndrome in a girl with a heterozygous mutation in the ATRX Zn finger domain and a totally skewed X-inactivation pattern.

Badens C, Martini N, Courrier S, DesPortes V, Touraine R, Levy N, Edery P.

Am J Med Genet A. 2006 Oct 15;140(20):2212-5.PMID: 16955409 [PubMed - indexed for MEDLINE]Related articles

Molecular genetic study of japanese patients with X-linked alpha-thalassemia/mental retardation syndrome (ATR-X).

Wada T, Kubota T, Fukushima Y, Saitoh S.

Am J Med Genet. 2000 Sep 18;94(3):242-8.PMID: 10995512 [PubMed - indexed for MEDLINE]Related articles

[ATR-X syndrome: a new mutation in the XNP/ATRX gene near the helicase domain]

Giuliano F, Badens C, Richelme C, Levy N, Lambert JC.

Arch Pediatr. 2005 Sep;12(9):1372-5. French. PMID: 16125058 [PubMed - indexed for MEDLINE]Related articles

Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus).

Van Buggenhout G, Fryns JP.

Orphanet J Rare Dis. 2006 Jul 10;1:26. Review.PMID: 16831221 [PubMed - indexed for MEDLINE]Related articlesFree article

A new detection method for ATRX gene mutations using a mismatch-specific endonuclease.

Wada T, Fukushima Y, Saitoh S.

Am J Med Genet A. 2006 Jul 15;140(14):1519-23.PMID: 16763962 [PubMed - indexed for MEDLINE]Related articles

Gastrointestinal phenotype of ATR-X syndrome.

Martucciello G, Lombardi L, Savasta S, Gibbons RJ.

Am J Med Genet A. 2006 Jun 1;140(11):1172-6.PMID: 16688741 [PubMed - indexed for MEDLINE]Related articles

Mutational analysis of the ATRX gene by DGGE: a powerful diagnostic approach for the ATRX syndrome.

Borgione E, Sturnio M, Spalletta A, Angela Lo Giudice M, Castiglia L, Galesi O, Ragusa A, Fichera M.

Hum Mutat. 2003 May;21(5):529-34.PMID: 12673795 [PubMed - indexed for MEDLINE]Related articles

Prenatal diagnosis of ATR-X syndrome in a fetus with a new G>T splicing mutation in the XNP/ATR-X gene.

Fichera M, Silengo M, Spalletta A, Giudice ML, Romano C, Ragusa A.

Prenat Diagn. 2001 Sep;21(9):747-51.PMID: 11559911 [PubMed - indexed for MEDLINE]Related articles

Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome.

Badens C, Lacoste C, Philip N, Martini N, Courrier S, Giuliano F, Verloes A, Munnich A, Leheup B, Burglen L, Odent S, Van Esch H, Levy N.

Clin Genet. 2006 Jul;70(1):57-62.PMID: 16813605 [PubMed - indexed for MEDLINE]Related articles

A novel splicing mutation of the ATRX gene in ATR-X syndrome.

Wada T, Sakakibara M, Fukushima Y, Saitoh S.

Brain Dev. 2006 Jun;28(5):322-5. Epub 2006 Jan 10.PMID: 16376512 [PubMed - indexed for MEDLINE]Related articles

X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: a new kindred with severe genital anomalies and mild hematologic expression.

McPherson EW, Clemens MM, Gibbons RJ, Higgs DR.

Am J Med Genet. 1995 Jan 30;55(3):302-6.PMID: 7726227 [PubMed - indexed for MEDLINE]Related articles

Partial ATRX gene duplication causes ATR-X syndrome.

Cohn DM, Pagon RA, Hudgins L, Schwartz CE, Stevenson RE, Friez MJ.

Am J Med Genet A. 2009 Oct;149A(10):2317-20. No abstract available. PMID: 19764021 [PubMed - indexed for MEDLINE]Related articles

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

Gibbons RJ, McDowell TL, Raman S, O'Rourke DM, Garrick D, Ayyub H, Higgs DR.

Nat Genet. 2000 Apr;24(4):368-71.PMID: 10742099 [PubMed - indexed for MEDLINE]Related articles

X-linked alpha thalassaemia/mental retardation syndrome: a case with gonadal dysgenesis, caused by a novel mutation in ATRX gene.

Jezela-Stanek A, Fisher C, Szarras-Czapnik M, Olczak-Kowalczyk D, Gibbons RJ, Słowikowska-Hilczer J, Krajewska-Walasek M.

Clin Dysmorphol. 2009 Jul;18(3):168-71. No abstract available. PMID: 19444090 [PubMed - indexed for MEDLINE]Related articles

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

Picketts DJ, Higgs DR, Bachoo S, Blake DJ, Quarrell OW, Gibbons RJ.

Hum Mol Genet. 1996 Dec;5(12):1899-907.PMID: 8968741 [PubMed - indexed for MEDLINE]Related articlesFree article