BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

165 related articles for article (PubMed ID: 31608750)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 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. Duplication at Xq13.3-q21.1 with syndromic intellectual disability, a probable role for the ATRX gene.
    Martínez F; Roselló M; Mayo S; Monfort S; Oltra S; Orellana C
    Am J Med Genet A; 2014 Apr; 164A(4):918-23. PubMed ID: 24458433
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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):168-171. PubMed ID: 19444090
    [No Abstract]   [Full Text] [Related]  

  • 8. 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]  

  • 9. [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]  

  • 10. 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]  

  • 11. 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]  

  • 12. A novel mutation in the putative DNA helicase XH2 is responsible for male-to-female sex reversal associated with an atypical form of the ATR-X syndrome.
    Ion A; Telvi L; Chaussain JL; Galacteros F; Valayer J; Fellous M; McElreavey K
    Am J Hum Genet; 1996 Jun; 58(6):1185-91. PubMed ID: 8651295
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. A point mutation in the XNP gene, associated with an ATR-X phenotype without alpha-thalassemia.
    Villard L; Lacombe D; Fontés M
    Eur J Hum Genet; 1996; 4(6):316-20. PubMed ID: 9043863
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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. PubMed ID: 8968741
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. 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]  

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

  • 20. 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]  

    [Next]    [New Search]
    of 9.