BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

452 related articles for article (PubMed ID: 28027854)

  • 1. Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes.
    Giorgio E; Brussino A; Biamino E; Belligni EF; Bruselles A; Ciolfi A; Caputo V; Pizzi S; Calcia A; Di Gregorio E; Cavalieri S; Mancini C; Pozzi E; Ferrero M; Riberi E; Borelli I; Amoroso A; Ferrero GB; Tartaglia M; Brusco A
    Eur J Paediatr Neurol; 2017 May; 21(3):475-484. PubMed ID: 28027854
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities?
    Hackmann K; Rump A; Haas SA; Lemke JR; Fryns JP; Tzschach A; Wieczorek D; Albrecht B; Kuechler A; Ripperger T; Kobelt A; Oexle K; Tinschert S; Schrock E; Kalscheuer VM; Di Donato N
    Am J Med Genet A; 2016 Jan; 170A(1):94-102. PubMed ID: 26358559
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.
    Chevarin M; Duffourd Y; A Barnard R; Moutton S; Lecoquierre F; Daoud F; Kuentz P; Cabret C; Thevenon J; Gautier E; Callier P; St-Onge J; Jouan T; Lacombe D; Delrue MA; Goizet C; Morice-Picard F; Van-Gils J; Munnich A; Lyonnet S; Cormier-Daire V; Baujat G; Holder M; Petit F; Leheup B; Odent S; Jouk PS; Lopez G; Geneviève D; Collignon P; Martin-Coignard D; Jacquette A; Perrin L; Putoux A; Sarrazin E; Amarof K; Missotte I; Coubes C; Jagadeesh S; Lapi E; Demurger F; Goldenberg A; Doco-Fenzy M; Mignot C; Héron D; Jean-Marçais N; Masurel A; El Chehadeh S; Marle N; Huet F; Binquet C; Collod-Beroud G; Arnaud P; Hanna N; Boileau C; Jondeau G; Olaso R; Lechner D; Poe C; Assoum M; Carmignac V; Duplomb L; Tran Mau-Them F; Philippe C; Vitobello A; Bruel AL; Boland A; Deleuze JF; Thauvin-Robinet C; Rivière JB; O'Roak BJ; Faivre L
    J Med Genet; 2020 Jul; 57(7):466-474. PubMed ID: 32277047
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
    Kolanczyk M; Krawitz P; Hecht J; Hupalowska A; Miaczynska M; Marschner K; Schlack C; Emmerich D; Kobus K; Kornak U; Robinson PN; Plecko B; Grangl G; Uhrig S; Mundlos S; Horn D
    Eur J Hum Genet; 2015 May; 23(5):633-8. PubMed ID: 24916641
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face.
    Harakalova M; van den Boogaard MJ; Sinke R; van Lieshout S; van Tuil MC; Duran K; Renkens I; Terhal PA; de Kovel C; Nijman IJ; van Haelst M; Knoers NV; van Haaften G; Kloosterman W; Hennekam RC; Cuppen E; Ploos van Amstel HK
    J Med Genet; 2012 Aug; 49(8):539-43. PubMed ID: 22889856
    [TBL] [Abstract][Full Text] [Related]  

  • 10. De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation.
    Fieremans N; Bauters M; Belet S; Verbeeck J; Jansen AC; Seneca S; Roelens F; De Baere E; Marynen P; Froyen G
    Hum Genet; 2014 Nov; 133(11):1359-67. PubMed ID: 25037250
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. X-linked mental retardation-hypotonic facies syndrome: Exome sequencing identifies novel clinical characteristics associated with c.5182G>C mutation in the ATRX gene.
    Shakarami F; Jahani M; Nouri Z; Tabatabaiefar MA
    Mol Genet Genomic Med; 2022 Oct; 10(10):e2034. PubMed ID: 35962714
    [TBL] [Abstract][Full Text] [Related]  

  • 13. MED12 missense mutation in a three-generation family. Clinical characterization of MED12-related disorders and literature review.
    Rubinato E; Rondeau S; Giuliano F; Kossorotoff M; Parodi M; Gherbi S; Steffan J; Jonard L; Marlin S
    Eur J Med Genet; 2020 Mar; 63(3):103768. PubMed ID: 31536828
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability.
    Ibarluzea N; Hoz AB; Villate O; Llano I; Ocio I; Martí I; Guitart M; Gabau E; Andrade F; Gener B; Tejada MI
    Genes (Basel); 2020 Jan; 11(1):. PubMed ID: 31906484
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Case Report: Chinese female patients with a heterozygous pathogenic
    Cong Y; Jin H; Wu K; Wang H; Wang D
    Front Genet; 2022; 13():900226. PubMed ID: 36046249
    [No Abstract]   [Full Text] [Related]  

  • 16. Skewed X-inactivation in a family with DLG3-associated X-linked intellectual disability.
    Gieldon L; Mackenroth L; Betcheva-Krajcir E; Rump A; Beck-Wödl S; Schallner J; Di Donato N; Schröck E; Tzschach A
    Am J Med Genet A; 2017 Sep; 173(9):2545-2550. PubMed ID: 28777483
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation.
    Field M; Tarpey P; Boyle J; Edkins S; Goodship J; Luo Y; Moon J; Teague J; Stratton MR; Futreal PA; Wooster R; Raymond FL; Turner G
    Clin Genet; 2006 Dec; 70(6):509-15. PubMed ID: 17100996
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples.
    Giorgio E; Ciolfi A; Biamino E; Caputo V; Di Gregorio E; Belligni EF; Calcia A; Gaidolfi E; Bruselles A; Mancini C; Cavalieri S; Molinatto C; Cirillo Silengo M; Ferrero GB; Tartaglia M; Brusco A
    Am J Med Genet A; 2016 Jul; 170(7):1772-9. PubMed ID: 27108886
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Exome sequencing identifies three novel candidate genes implicated in intellectual disability.
    Agha Z; Iqbal Z; Azam M; Ayub H; Vissers LE; Gilissen C; Ali SH; Riaz M; Veltman JA; Pfundt R; van Bokhoven H; Qamar R
    PLoS One; 2014; 9(11):e112687. PubMed ID: 25405613
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 23.