BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

158 related articles for article (PubMed ID: 16470793)

  • 1. A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family.
    Tabolacci E; Pomponi MG; Pietrobono R; Terracciano A; Chiurazzi P; Neri G
    Am J Med Genet A; 2006 Mar; 140(5):482-7. PubMed ID: 16470793
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Novel mutation of IL1RAPL1 gene in a nonspecific X-linked mental retardation (MRX) family.
    Nawara M; Klapecki J; Borg K; Jurek M; Moreno S; Tryfon J; Bal J; Chelly J; Mazurczak T
    Am J Med Genet A; 2008 Dec; 146A(24):3167-72. PubMed ID: 19012350
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Fine mapping of Xq11.1-q21.33 and mutation screening of RPS6KA6, ZNF711, ACSL4, DLG3, and IL1RAPL2 for autism spectrum disorders (ASD).
    Kantojärvi K; Kotala I; Rehnström K; Ylisaukko-Oja T; Vanhala R; von Wendt TN; von Wendt L; Järvelä I
    Autism Res; 2011 Jun; 4(3):228-33. PubMed ID: 21384559
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mapping of MRX81 in Xp11.2-Xq12 suggests the presence of a new gene involved in nonspecific X-linked mental retardation.
    Annunziata I; Lanzara C; Conte I; Zullo A; Ventruto V; Rinaldi MM; D'Urso M; Casari G; Ciccodicola A; Miano MG
    Am J Med Genet A; 2003 Apr; 118A(3):217-22. PubMed ID: 12673650
    [TBL] [Abstract][Full Text] [Related]  

  • 5. X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22.1-p21.3 in a Belgian family.
    Van Esch H; Zanni G; Holvoet M; Borghgraef M; Chelly J; Fryns JP; Devriendt K
    Eur J Med Genet; 2005; 48(2):145-52. PubMed ID: 16053905
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A locus for nonspecific X-linked mental retardation mapped to a 22.3 cM region of Xp11.3-q22.3.
    Zhang X; Liu Q; Chen B; Guo C; Li J; Gao G; Guo Y; Gong Y
    Am J Med Genet A; 2004 Sep; 129A(3):286-9. PubMed ID: 15326629
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Two novel members of the interleukin-1 receptor gene family, one deleted in Xp22.1-Xp21.3 mental retardation.
    Jin H; Gardner RJ; Viswesvaraiah R; Muntoni F; Roberts RG
    Eur J Hum Genet; 2000 Feb; 8(2):87-94. PubMed ID: 10757639
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A gene for nonsyndromic X-linked mental retardation (MRX77) maps to Xq12-Xq21.33.
    Sismani C; Syrrou M; Christodoulou K; Hamel B; Chelly J; Yntema HG; van Bokhoven H; Tzoufi M; Georgiou I; Patsalis PC
    Am J Med Genet A; 2003 Sep; 122A(1):46-50. PubMed ID: 12949971
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A novel frame shift mutation in the PQBP1 gene identified in a Tunisian family with X-linked mental retardation.
    Rejeb I; Ben Jemaa L; Abaied L; Kraoua L; Saillour Y; Maazoul F; Chelly J; Chaabouni H
    Eur J Med Genet; 2011; 54(3):241-6. PubMed ID: 21315190
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [Gene mapping in 14 families with X-linked nonspecific mental retardation].
    Nawara M; Jurek M; Bal J; Mazurczak T
    Med Wieku Rozwoj; 2009; 13(2):94-113. PubMed ID: 19837990
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Localization of a non-syndromic X-linked mental retardation gene (MRX80) to Xq22-q24.
    Verot L; Alloisio N; Morlé L; Bozon M; Touraine R; Plauchu H; Edery P
    Am J Med Genet A; 2003 Sep; 122A(1):37-41. PubMed ID: 12949969
    [TBL] [Abstract][Full Text] [Related]  

  • 12. IL1RAPL1 gene deletion as a cause of X-linked intellectual disability and dysmorphic features.
    Youngs EL; Henkhaus R; Hellings JA; Butler MG
    Eur J Med Genet; 2012 Jan; 55(1):32-6. PubMed ID: 21933724
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Refined 2.7 centimorgan locus in Xp21.3-22.1 for a nonspecific X-linked mental retardation gene (MRX54).
    Jemaa LB; des Portes V; Zemni R; Mrad R; Maazoul F; Beldjord C; Chaabouni H; Chelly J
    Am J Med Genet; 1999 Jul; 85(3):276-82. PubMed ID: 10398243
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Regional localization of a gene for nonspecific XLMR to Xp11.3-p11. 23 (MRX51) and tentative localization of an MRX gene to Xq23-q26.1.
    Claes S; Volcke P; Devriendt K; Holvoet M; Raeymaekers P; Cassiman JJ; Fryns JP
    Am J Med Genet; 1999 Jul; 85(3):283-7. PubMed ID: 10398244
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Stocco dos Santos X-linked mental retardation syndrome: clinical elucidation and localization to Xp11.3-Xq21.3.
    Stocco dos Santos RC; Castro NH; Lillia Holmes A; Beçak W; Tackels-Horne D; Lindsey CJ; Lubs HA; Stevenson RE; Schwartz CE
    Am J Med Genet A; 2003 Apr; 118A(3):255-9. PubMed ID: 12673656
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation.
    Shoichet SA; Hoffmann K; Menzel C; Trautmann U; Moser B; Hoeltzenbein M; Echenne B; Partington M; Van Bokhoven H; Moraine C; Fryns JP; Chelly J; Rott HD; Ropers HH; Kalscheuer VM
    Am J Hum Genet; 2003 Dec; 73(6):1341-54. PubMed ID: 14628291
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency.
    Laumonnier F; Ronce N; Hamel BC; Thomas P; Lespinasse J; Raynaud M; Paringaux C; Van Bokhoven H; Kalscheuer V; Fryns JP; Chelly J; Moraine C; Briault S
    Am J Hum Genet; 2002 Dec; 71(6):1450-5. PubMed ID: 12428212
    [TBL] [Abstract][Full Text] [Related]  

  • 18. X inactivation testing for identifying a non-syndromic X-linked mental retardation gene.
    Yonath H; Marek-Yagel D; Resnik-Wolf H; Abu-Horvitz A; Baris HN; Shohat M; Frydman M; Pras E
    J Appl Genet; 2011 Nov; 52(4):437-41. PubMed ID: 21584729
    [TBL] [Abstract][Full Text] [Related]  

  • 19. CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes.
    Hackett A; Tarpey PS; Licata A; Cox J; Whibley A; Boyle J; Rogers C; Grigg J; Partington M; Stevenson RE; Tolmie J; Yates JR; Turner G; Wilson M; Futreal AP; Corbett M; Shaw M; Gecz J; Raymond FL; Stratton MR; Schwartz CE; Abidi FE
    Eur J Hum Genet; 2010 May; 18(5):544-52. PubMed ID: 20029458
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Clinical and molecular contributions to the understanding of X-linked mental retardation.
    Stevenson RE; Schwartz CE
    Cytogenet Genome Res; 2002; 99(1-4):265-75. PubMed ID: 12900574
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.