BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

125 related articles for article (PubMed ID: 18412109)

  • 1. Inactivation of the CDKL3 gene at 5q31.1 by a balanced t(X;5) translocation associated with nonspecific mild mental retardation.
    Dubos A; Pannetier S; Hanauer A
    Am J Med Genet A; 2008 May; 146A(10):1267-79. PubMed ID: 18412109
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Loss of ZDHHC15 expression in a woman with a balanced translocation t(X;15)(q13.3;cen) and severe mental retardation.
    Mansouri MR; Marklund L; Gustavsson P; Davey E; Carlsson B; Larsson C; White I; Gustavson KH; Dahl N
    Eur J Hum Genet; 2005 Aug; 13(8):970-7. PubMed ID: 15915161
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Molecular and cytogenetic analysis of the spreading of X inactivation in a girl with microcephaly, mild dysmorphic features and t(X;5)(q22.1;q31.1).
    Giorda R; Bonaglia MC; Milani G; Baroncini A; Spada F; Beri S; Menozzi G; Rusconi M; Zuffardi O
    Eur J Hum Genet; 2008 Aug; 16(8):897-905. PubMed ID: 18301446
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Non-syndromic mild mental retardation candidate gene CDKL3 regulates neuronal morphogenesis.
    Liu Z; Xu D; Zhao Y; Zheng J
    Neurobiol Dis; 2010 Sep; 39(3):242-51. PubMed ID: 20347982
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Balanced translocations in mental retardation.
    Vandeweyer G; Kooy RF
    Hum Genet; 2009 Jul; 126(1):133-47. PubMed ID: 19347365
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Inactivition of CDKL3 mildly inhibits proliferation of cells at VZ/SVZ in brain.
    Liu Z; Tao D
    Neurol Sci; 2015 Feb; 36(2):297-302. PubMed ID: 25270654
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Autism-associated familial microdeletion of Xp11.22.
    Qiao Y; Liu X; Harvard C; Hildebrand MJ; Rajcan-Separovic E; Holden JJ; Lewis ME
    Clin Genet; 2008 Aug; 74(2):134-44. PubMed ID: 18498374
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Identification of a 650 kb duplication at the X chromosome breakpoint in a patient with 46,X,t(X;8)(q28;q12) and non-syndromic mental retardation.
    Cox JJ; Holden ST; Dee S; Burbridge JI; Raymond FL
    J Med Genet; 2003 Mar; 40(3):169-74. PubMed ID: 12624134
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Phenotype in X chromosome rearrangements: pitfalls of X inactivation study.
    Schluth C; Cossée M; Girard-Lemaire F; Carelle N; Dollfus H; Jeandidier E; Flori E
    Pathol Biol (Paris); 2007 Feb; 55(1):29-36. PubMed ID: 16690229
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The CASK gene harbored in a deletion detected by array-CGH as a potential candidate for a gene causative of X-linked dominant mental retardation.
    Hayashi S; Mizuno S; Migita O; Okuyama T; Makita Y; Hata A; Imoto I; Inazawa J
    Am J Med Genet A; 2008 Aug; 146A(16):2145-51. PubMed ID: 18629876
    [TBL] [Abstract][Full Text] [Related]  

  • 12. MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression.
    Frints SG; Lenzner S; Bauters M; Jensen LR; Van Esch H; des Portes V; Moog U; Macville MV; van Roozendaal K; Schrander-Stumpel CT; Tzschach A; Marynen P; Fryns JP; Hamel B; van Bokhoven H; Chelly J; Beldjord C; Turner G; Gecz J; Moraine C; Raynaud M; Ropers HH; Froyen G; Kuss AW
    Eur J Hum Genet; 2008 Sep; 16(9):1029-37. PubMed ID: 18398436
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Non-skewed X-inactivation may cause mental retardation in a female carrier of X-linked alpha-thalassemia/mental retardation syndrome (ATR-X): X-inactivation study of nine female carriers of ATR-X.
    Wada T; Sugie H; Fukushima Y; Saitoh S
    Am J Med Genet A; 2005 Sep; 138(1):18-20. PubMed ID: 16100724
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Characterization of a de novo balanced translocation in a patient with moderate mental retardation and dysmorphic features.
    Haddad MR; Mignon-Ravix C; Cacciagli P; Mégarbané A; Villard L
    Eur J Med Genet; 2009; 52(4):211-7. PubMed ID: 19379847
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A female patient with retinoblastoma and severe intellectual disability carrying an X;13 balanced translocation without rearrangement in the RB1 gene: a case report.
    Tsutsumi M; Hattori H; Akita N; Maeda N; Kubota T; Horibe K; Fujita N; Kawai M; Shinkai Y; Kato M; Kato T; Kawamura R; Suzuki F; Kurahashi H
    BMC Med Genomics; 2019 Dec; 12(1):182. PubMed ID: 31806026
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Functional monosomy of 6q27-qter and functional disomy of Xpter-p22.11 due to X;6 translocation with an atypical X-inactivation pattern.
    Podolska A; Kobelt A; Fuchs S; Hackmann K; Rump A; Schröck E; Kutsche K; Di Donato N
    Am J Med Genet A; 2017 May; 173(5):1334-1341. PubMed ID: 28371302
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation.
    Hagens O; Dubos A; Abidi F; Barbi G; Van Zutven L; Hoeltzenbein M; Tommerup N; Moraine C; Fryns JP; Chelly J; van Bokhoven H; Gécz J; Dollfus H; Ropers HH; Schwartz CE; de Cassia Stocco Dos Santos R; Kalscheuer V; Hanauer A
    Hum Genet; 2006 Jan; 118(5):578-90. PubMed ID: 16249884
    [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. ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal.
    Marco EJ; Abidi FE; Bristow J; Dean WB; Cotter P; Jeremy RJ; Schwartz CE; Sherr EH
    J Med Genet; 2008 Feb; 45(2):100-5. PubMed ID: 17893116
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males.
    Cantagrel V; Lossi AM; Boulanger S; Depetris D; Mattei MG; Gecz J; Schwartz CE; Van Maldergem L; Villard L
    J Med Genet; 2004 Oct; 41(10):736-42. PubMed ID: 15466006
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.