133 related articles for article (PubMed ID: 37994132)
1. [Analysis of clinical features and ATRX gene variants in a Chinese pedigree affected with X-linked alpha thalassemia mental retardation (ATR-X) syndrome].
Dong R; Yang Y; Guo H; Gao M; Lyu Y; Li Y; Yang X; Liu Y
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Dec; 40(12):1508-1511. PubMed ID: 37994132
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. A novel missense mutation in ATRX uncovered in a Yemeni family leads to alpha-thalassemia/mental retardation syndrome without alpha-thalassemia.
Hamzeh AR; Nair P; Mohamed M; Saif F; Tawfiq N; Al-Ali MT; Bastaki F
Ir J Med Sci; 2017 May; 186(2):333-337. PubMed ID: 26860117
[TBL] [Abstract][Full Text] [Related]
4. [Alpha-thalassemia/mental retardation syndrome (ATR-X) in two brothers - clinical characteristics, diagnostics and genetic counselling issues].
Szczałuba K; Obersztyn E; Nowakowska B; Bernaciak J; Fisher C; Gibbons R; Mazurczak T; Bocian E
Med Wieku Rozwoj; 2011; 15(4):437-44. PubMed ID: 22516698
[TBL] [Abstract][Full Text] [Related]
5. Integrated omics analyses clarifies ATRX copy number variant of uncertain significance.
Marshall AE; Liang Y; Couse M; McConkey H; ; Sadikovic B; Boycott KM; Dyment DA; Kernohan KD
J Hum Genet; 2024 Feb; 69(2):101-105. PubMed ID: 37904029
[TBL] [Abstract][Full Text] [Related]
6. 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. PubMed ID: 24898829
[TBL] [Abstract][Full Text] [Related]
7. Brief Report: Evidence of Autism Spectrum Disorder Caused by a Mutation in ATRX Gene: A Case Report.
López-Garrido MP; Carrascosa-Romero MC; Montero-Hernández M; Ruiz-Almansa J; Sánchez-Sánchez F
J Autism Dev Disord; 2024 Jan; 54(1):379-388. PubMed ID: 35593993
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 21218045
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. [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. PubMed ID: 24327140
[TBL] [Abstract][Full Text] [Related]
11. Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome.
Schenkel LC; Kernohan KD; McBride A; Reina D; Hodge A; Ainsworth PJ; Rodenhiser DI; Pare G; Bérubé NG; Skinner C; Boycott KM; Schwartz C; Sadikovic B
Epigenetics Chromatin; 2017; 10():10. PubMed ID: 28293299
[TBL] [Abstract][Full Text] [Related]
12. 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; 94(3):242-8. PubMed ID: 10995512
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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. PubMed ID: 26997013
[TBL] [Abstract][Full Text] [Related]
15. Electroencephalographic findings in ATRX syndrome: A new case series and review of literature.
Aiello S; Mancardi MM; Romano A; Santucci M; Scaduto MC; Vari MS; Striano P; Operto FF; Elia M; Vitiello G; Del Giudice E; Terrone G
Eur J Paediatr Neurol; 2022 Sep; 40():69-72. PubMed ID: 36031702
[TBL] [Abstract][Full Text] [Related]
16. ATR-X syndrome: genetics, clinical spectrum, and management.
León NY; Harley VR
Hum Genet; 2021 Dec; 140(12):1625-1634. PubMed ID: 34524523
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 24805811
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. [A case of X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome with repeated apnea attacks due to laryngomalacia].
Ebishima Y; Misaki T; Owa K; Okuno T; Wada T; Suehiro Y
No To Hattatsu; 2013 Jan; 45(1):44-8. PubMed ID: 23593745
[TBL] [Abstract][Full Text] [Related]
20. 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. PubMed ID: 11559911
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]