132 related articles for article (PubMed ID: 16688741)
1. Gastrointestinal phenotype of ATR-X syndrome.
Martucciello G; Lombardi L; Savasta S; Gibbons RJ
Am J Med Genet A; 2006 Jun; 140(11):1172-6. PubMed ID: 16688741
[TBL] [Abstract][Full Text] [Related]
2. Volvulus and bowel obstruction in ATR-X syndrome-clinical report and review of literature.
Horesh N; Pery R; Amiel I; Shwaartz C; Speter C; Guranda L; Gutman M; Hoffman A
Am J Med Genet A; 2015 Nov; 167A(11):2777-9. PubMed ID: 26174613
[TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 19764021
[No Abstract] [Full Text] [Related]
4. [Molecular mechanisms of synapse pathology in ATR-X syndrome].
Shioda N; Fukunaga K
Nihon Yakurigaku Zasshi; 2015 Apr; 145(4):174-7. PubMed ID: 25864826
[No Abstract] [Full Text] [Related]
5. 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(4):483-6. PubMed ID: 22089611
[TBL] [Abstract][Full Text] [Related]
6. Does ATRX germline variation predispose to osteosarcoma? Three additional cases of osteosarcoma in two ATR-X syndrome patients.
Masliah-Planchon J; Lévy D; Héron D; Giuliano F; Badens C; Fréneaux P; Galmiche L; Guinebretierre JM; Cellier C; Waterfall JJ; Aït-Raïs K; Pierron G; Glorion C; Desguerre I; Soler C; Deville A; Delattre O; Michon J; Bourdeaut F
Eur J Hum Genet; 2018 Aug; 26(8):1217-1221. PubMed ID: 29706636
[TBL] [Abstract][Full Text] [Related]
7. Alpha thalassaemia-mental retardation, X linked.
Gibbons R
Orphanet J Rare Dis; 2006 May; 1():15. PubMed ID: 16722615
[TBL] [Abstract][Full Text] [Related]
8. Neuroradiologic features in X-linked α-thalassemia/mental retardation syndrome.
Wada T; Ban H; Matsufuji M; Okamoto N; Enomoto K; Kurosawa K; Aida N
AJNR Am J Neuroradiol; 2013 Oct; 34(10):2034-8. PubMed ID: 23681356
[TBL] [Abstract][Full Text] [Related]
9. 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; 569(2):318-22. PubMed ID: 25936994
[TBL] [Abstract][Full Text] [Related]
10. ATRX and the replication of structured DNA.
Clynes D; Gibbons RJ
Curr Opin Genet Dev; 2013 Jun; 23(3):289-94. PubMed ID: 23453691
[TBL] [Abstract][Full Text] [Related]
11. 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. PubMed ID: 18409179
[TBL] [Abstract][Full Text] [Related]
12. [X-linked alpha-thalassemia/mental retardation syndrome].
Wada T
Rinsho Byori; 2009 Apr; 57(4):382-90. PubMed ID: 19489441
[TBL] [Abstract][Full Text] [Related]
13. 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. PubMed ID: 17579672
[TBL] [Abstract][Full Text] [Related]
14. Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma.
Ji J; Quindipan C; Parham D; Shen L; Ruble D; Bootwalla M; Maglinte DT; Gai X; Saitta SC; Biegel JA; Mascarenhas L
Am J Med Genet A; 2017 May; 173(5):1390-1395. PubMed ID: 28371217
[TBL] [Abstract][Full Text] [Related]
15. A Novel ATRX Mutation Presenting with Intellectual Disability and Severe Kyphoscoliosis.
Altıner Ş; Raymond L
Fetal Pediatr Pathol; 2020 Dec; 39(6):539-543. PubMed ID: 31608750
[No Abstract] [Full Text] [Related]
16. 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; 138(1):18-20. PubMed ID: 16100724
[TBL] [Abstract][Full Text] [Related]
17. 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. PubMed ID: 25976463
[TBL] [Abstract][Full Text] [Related]
18. A case of ATR-X syndrome with mitochondrial respiratory chain dysfunction.
Aiba K; Nakamura Y; Sugimoto M; Yatsuka Y; Okazaki Y; Murayama K; Ohtake A; Yokochi K; Saitoh S
Eur J Med Genet; 2021 Aug; 64(8):104251. PubMed ID: 34051360
[TBL] [Abstract][Full Text] [Related]
19. 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; 140(20):2212-5. PubMed ID: 16955409
[TBL] [Abstract][Full Text] [Related]
20. Epileptic Encephalopathy, Myoclonus-Dystonia, and Premature Pubarche in Siblings with a Novel C-Terminal Truncating Mutation in ATRX Gene.
Giacomini T; Vari MS; Janis S; Prato G; Pisciotta L; Rocchi A; Michelucci A; Di Rocco M; Gandullia P; Mattioli G; Sacco O; Morana G; Mancardi MM
Neuropediatrics; 2019 Oct; 50(5):327-331. PubMed ID: 31319423
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]