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Items: 1 to 20 of 143

1.

[Mutation analysis for a Chinese family featuring X-linked alpha thalassemia/mental retardation syndrome].

Lin SB, Sun HY, Song XM, Chen LM, Du ML, Chen Z.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Dec;30(6):654-8. doi: 10.3760/cma.j.issn.1003-9406.2013.06.004. Chinese.

PMID:
24327140
2.

Co-inheritance of novel ATRX gene mutation and globin (α & β) gene mutations in transfusion dependent beta-thalassemia patients.

Al-Nafie AN, Borgio JF, AbdulAzeez S, Al-Suliman AM, Qaw FS, Naserullah ZA, Al-Jarrash S, Al-Madan MS, Al-Ali RA, AlKhalifah MA, Al-Muhanna F, Steinberg MH, Al-Ali AK.

Blood Cells Mol Dis. 2015 Jun;55(1):27-9. doi: 10.1016/j.bcmd.2015.03.008. Epub 2015 Mar 30.

PMID:
25976463
3.

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
4.

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

Wada T.

Rinsho Byori. 2009 Apr;57(4):382-90. Review. Japanese.

PMID:
19489441
5.

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
6.

ATR-X syndrome in two siblings with a novel mutation (c.6718C>T mutation in exon 31).

Thakur S, Ishrie M, Saxena R, Danda S, Linda R, Viswabandya A, Verma IC.

Indian J Med Res. 2011 Oct;134:483-6.

8.

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
9.

[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
10.

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.

11.

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
12.

Novel ATRX gene damaging missense mutation c.6740A>C segregates with profound to severe intellectual deficiency without alpha thalassaemia.

Bouazzi H, Thakur S, Trujillo C, Alwasiyah MK, Munnich A.

Indian J Med Res. 2016 Jan;143(1):43-8. doi: 10.4103/0971-5916.178589.

13.

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. doi: 10.1002/ajmg.a.33006. No abstract available.

PMID:
19764021
14.

The first case of X-linked Alpha-thalassemia/mental retardation (ATR-X) syndrome in Korea.

Yun KW, Chae SA, Lee JJ, Yun SW, Yoo BH, Lim IS, Choi ES, Lee MK.

J Korean Med Sci. 2011 Jan;26(1):146-9. doi: 10.3346/jkms.2011.26.1.146. Epub 2010 Dec 22.

15.

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. doi: 10.1002/humu.20734.

PMID:
18409179
16.

Alpha-thalassemia X-linked intellectual disability syndrome identified by whole exome sequencing in two boys with white matter changes and developmental retardation.

Lee JS, Lee S, Lim BC, Kim KJ, Hwang YS, Choi M, Chae JH.

Gene. 2015 Sep 15;569(2):318-22. doi: 10.1016/j.gene.2015.04.075. Epub 2015 Apr 30.

PMID:
25936994
17.

Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X).

Basehore MJ, Michaelson-Cohen R, Levy-Lahad E, Sismani C, Bird LM, Friez MJ, Walsh T, Abidi F, Holloway L, Skinner C, McGee S, Alexandrou A, Syrrou M, Patsalis PC, Raymond G, Wang T, Schwartz CE, King MC, Stevenson RE.

Clin Genet. 2015 May;87(5):461-6. doi: 10.1111/cge.12420. Epub 2014 May 30. Review.

PMID:
24805811
18.

A novel 5' ATRX mutation with splicing consequences in acquired alpha thalassemia-myelodysplastic syndrome.

Nelson ME, Thurmes PJ, Hoyer JD, Steensma DP.

Haematologica. 2005 Nov;90(11):1463-70.

19.

A case report of two brothers with ATR-X syndrome due to low maternal frequency of somatic mosaicism for an intragenic deletion in the ATRX.

Shimbo H, Ninomiya S, Kurosawa K, Wada T.

J Hum Genet. 2014 Jul;59(7):408-10. doi: 10.1038/jhg.2014.45. Epub 2014 Jun 5.

PMID:
24898829
20.

Defective survival of proliferating Sertoli cells and androgen receptor function in a mouse model of the ATR-X syndrome.

Bagheri-Fam S, Argentaro A, Svingen T, Combes AN, Sinclair AH, Koopman P, Harley VR.

Hum Mol Genet. 2011 Jun 1;20(11):2213-24. doi: 10.1093/hmg/ddr109. Epub 2011 Mar 22. Erratum in: Hum Mol Genet. 2011 Sep 1;20(17):3535.

PMID:
21427128

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