BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

152 related articles for article (PubMed ID: 31319423)

  • 1. 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]  

  • 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. 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]  

  • 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. [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]  

  • 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-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]  

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

  • 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. 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]  

  • 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. 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]  

  • 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. 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. 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]  

  • 18. 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]  

  • 19. 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]  

  • 20. Retinal interneuron survival requires non-cell-autonomous Atrx activity.
    Lagali PS; Medina CF; Zhao BY; Yan K; Baker AN; Coupland SG; Tsilfidis C; Wallace VA; Picketts DJ
    Hum Mol Genet; 2016 Nov; 25(21):4787-4803. PubMed ID: 28173139
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.