These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

130 related articles for article (PubMed ID: 14610352)

  • 1. Dissection of an inverted X(p21.3q27.1) chromosome associated with mental retardation.
    Leprêtre F; Delannoy V; Froguel P; Vasseur F; Montpellier C
    Cytogenet Genome Res; 2003; 101(2):124-9. PubMed ID: 14610352
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Characterisation of an inverted X chromosome (p11.2q21.3) associated with mental retardation using FISH.
    Sloan-Béna F; Philippe C; LeHeup B; Wuilque F; Levy ER; Chéry M; Jonveaux P; Monaco AP
    J Med Genet; 1998 Feb; 35(2):146-50. PubMed ID: 9507395
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mental retardation and early onset of weakness in a girl with a dystrophinopathy and a large Xp21-23 deletion.
    Falsaperla R; Romeo G; Sorge A; Bianchini R; DiGiorgio A; Trigilia T; Mattina T; Connolly AM
    J Child Neurol; 2003 Jan; 18(1):79-81. PubMed ID: 12661947
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Copy-number variations on the X chromosome in Japanese patients with mental retardation detected by array-based comparative genomic hybridization analysis.
    Honda S; Hayashi S; Imoto I; Toyama J; Okazawa H; Nakagawa E; Goto Y; Inazawa J
    J Hum Genet; 2010 Sep; 55(9):590-9. PubMed ID: 20613765
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Xp22.3 interstitial deletion: a recognizable chromosomal abnormality encompassing VCX3A and STS genes in a patient with X-linked ichthyosis and mental retardation.
    Ben Khelifa H; Soyah N; Ben-Abdallah-Bouhjar I; Gritly R; Sanlaville D; Elghezal H; Saad A; Mougou-Zerelli S
    Gene; 2013 Sep; 527(2):578-83. PubMed ID: 23791652
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation.
    Rauch A; Hoyer J; Guth S; Zweier C; Kraus C; Becker C; Zenker M; Hüffmeier U; Thiel C; Rüschendorf F; Nürnberg P; Reis A; Trautmann U
    Am J Med Genet A; 2006 Oct; 140(19):2063-74. PubMed ID: 16917849
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. Duplication of 11p14.3-p15.1 in a mentally retarded proband and his mother detected by G-banding and confirmed by high-resolution CGH and BAC FISH.
    Wyandt HE; Shim SH; Mark HF; Huang XL; Milunsky JM
    Exp Mol Pathol; 2006 Jun; 80(3):262-6. PubMed ID: 16516886
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Molecular cytogenetic analysis of a duplication Xp in a male: further delineation of a possible sex influencing region on the X chromosome.
    Rao PN; Klinepeter K; Stewart W; Hayworth R; Grubs R; Pettenati MJ
    Hum Genet; 1994 Aug; 94(2):149-53. PubMed ID: 8045561
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. Novel deletion at Xq24 including the UBE2A gene in a patient with X-linked mental retardation.
    Honda S; Orii KO; Kobayashi J; Hayashi S; Imamura A; Imoto I; Nakagawa E; Goto Y; Inazawa J
    J Hum Genet; 2010 Apr; 55(4):244-7. PubMed ID: 20339384
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: clinical study and mutation analysis of the NXF5 gene.
    Frints SG; Jun L; Fryns JP; Devriendt K; Teulingkx R; Van den Berghe L; De Vos B; Borghgraef M; Chelly J; Des Portes V; Van Bokhoven H; Hamel B; Ropers HH; Kalscheuer V; Raynaud M; Moraine C; Marynen P; Froyen G
    Am J Med Genet A; 2003 Jun; 119A(3):367-74. PubMed ID: 12784308
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. Molecular characterization of an X(p21.2;q28) chromosomal inversion in a Duchenne muscular dystrophy patient with mental retardation reveals a novel long non-coding gene on Xq28.
    Tran TH; Zhang Z; Yagi M; Lee T; Awano H; Nishida A; Okinaga T; Takeshima Y; Matsuo M
    J Hum Genet; 2013 Jan; 58(1):33-9. PubMed ID: 23223008
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 9 Mb familial duplication in chromosome band Xp22.2-22.13 associated with mental retardation, hypotonia and developmental delay, scoliosis, cardiovascular problems and mild dysmorphic facial features.
    Sismani C; Anastasiadou V; Kousoulidou L; Parkel S; Koumbaris G; Zilina O; Bashiardes S; Spanou E; Kurg A; Patsalis PC
    Eur J Med Genet; 2011; 54(5):e510-5. PubMed ID: 21684358
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.