BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

205 related articles for article (PubMed ID: 34524523)

  • 1. 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]  

  • 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. 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]  

  • 4. Targeting G-quadruplex DNA as cognitive function therapy for ATR-X syndrome.
    Shioda N; Yabuki Y; Yamaguchi K; Onozato M; Li Y; Kurosawa K; Tanabe H; Okamoto N; Era T; Sugiyama H; Wada T; Fukunaga K
    Nat Med; 2018 Jun; 24(6):802-813. PubMed ID: 29785027
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [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]  

  • 6. Alpha thalassaemia-mental retardation, X linked.
    Gibbons R
    Orphanet J Rare Dis; 2006 May; 1():15. PubMed ID: 16722615
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [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]  

  • 8. [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]  

  • 9. 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]  

  • 10. α-Thalassemia, mental retardation, and myelodysplastic syndrome.
    Gibbons RJ
    Cold Spring Harb Perspect Med; 2012 Oct; 2(10):. PubMed ID: 23028133
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. 5-Aminolevulinic acid can ameliorate language dysfunction of patients with ATR-X syndrome.
    Wada T; Suzuki S; Shioda N
    Congenit Anom (Kyoto); 2020 Sep; 60(5):147-148. PubMed ID: 31872459
    [No Abstract]   [Full Text] [Related]  

  • 14. 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]  

  • 15. [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]  

  • 16. 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]  

  • 17. 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]  

  • 18. 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]  

  • 19. 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]  

  • 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]
    of 11.