BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

170 related articles for article (PubMed ID: 20020400)

  • 1. Association of syndromic mental retardation and autism with 22q11.2 duplication.
    Lo-Castro A; Galasso C; Cerminara C; El-Malhany N; Benedetti S; Nardone AM; Curatolo P
    Neuropediatrics; 2009 Jun; 40(3):137-40. PubMed ID: 20020400
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Autistic disorder and 22q11.2 duplication.
    Mukaddes NM; Herguner S
    World J Biol Psychiatry; 2007; 8(2):127-30. PubMed ID: 17455106
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A cryptic duplication 22q13.31 to qter leads to a distinct phenotype with mental retardation, microcephaly and mild facial dysmorphism.
    Peeters H; Vermeesch J; Fryns JP
    Genet Couns; 2008; 19(4):365-71. PubMed ID: 19239079
    [TBL] [Abstract][Full Text] [Related]  

  • 4. DISC1 duplication in two brothers with autism and mild mental retardation.
    Crepel A; Breckpot J; Fryns JP; De la Marche W; Steyaert J; Devriendt K; Peeters H
    Clin Genet; 2010 Apr; 77(4):389-94. PubMed ID: 20002455
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation.
    Koolen DA; Reardon W; Rosser EM; Lacombe D; Hurst JA; Law CJ; Bongers EM; van Ravenswaaij-Arts CM; Leisink MA; van Kessel AG; Veltman JA; de Vries BB
    Eur J Hum Genet; 2005 Sep; 13(9):1019-24. PubMed ID: 15986041
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Deletion 2q37: an identifiable clinical syndrome with mental retardation and autism.
    Galasso C; Lo-Castro A; Lalli C; Nardone AM; Gullotta F; Curatolo P
    J Child Neurol; 2008 Jul; 23(7):802-6. PubMed ID: 18658079
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Microduplication 22q11.2 in a child with autism spectrum disorder: clinical and genetic study.
    Ramelli GP; Silacci C; Ferrarini A; Cattaneo C; Visconti P; Pescia G
    Dev Med Child Neurol; 2008 Dec; 50(12):953-5. PubMed ID: 19046189
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder.
    Fernandez BA; Roberts W; Chung B; Weksberg R; Meyn S; Szatmari P; Joseph-George AM; Mackay S; Whitten K; Noble B; Vardy C; Crosbie V; Luscombe S; Tucker E; Turner L; Marshall CR; Scherer SW
    J Med Genet; 2010 Mar; 47(3):195-203. PubMed ID: 19755429
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Microduplication 22q11.2: a new chromosomal syndrome.
    Portnoï MF
    Eur J Med Genet; 2009; 52(2-3):88-93. PubMed ID: 19254783
    [TBL] [Abstract][Full Text] [Related]  

  • 10. The velocardiofacial syndrome in older age: dementia and autistic features.
    Evers LJ; Vermaak MP; Engelen JJ; Curfs LM
    Genet Couns; 2006; 17(3):333-40. PubMed ID: 17100202
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Hereditary motor and sensory neuropathy (HMSN) IA, developmental delay and autism related disorder in a boy with duplication (17)(p11.2p12).
    Moog U; Engelen JJ; Weber BW; Van Gelderen M; Steyaert J; Baas F; Sijstermans HM; Fryns JP
    Genet Couns; 2004; 15(1):73-80. PubMed ID: 15083703
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Case with autistic syndrome and chromosome 22q13.3 deletion detected by FISH.
    Goizet C; Excoffier E; Taine L; Taupiac E; El Moneim AA; Arveiler B; Bouvard M; Lacombe D
    Am J Med Genet; 2000 Dec; 96(6):839-44. PubMed ID: 11121193
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Familial 22q11.2 duplication: a three-generation family with a 3-Mb duplication and a familial 1.5-Mb duplication.
    Yu S; Cox K; Friend K; Smith S; Buchheim R; Bain S; Liebelt J; Thompson E; Bratkovic D
    Clin Genet; 2008 Feb; 73(2):160-4. PubMed ID: 18076674
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Deletion 2p25.2: a cryptic chromosome abnormality in a patient with autism and mental retardation detected using aCGH.
    Lo-Castro A; Giana G; Fichera M; Castiglia L; Grillo L; Musumeci SA; Galasso C; Curatolo P
    Eur J Med Genet; 2009; 52(1):67-70. PubMed ID: 18992374
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation.
    Turner G; Partington M; Kerr B; Mangelsdorf M; Gecz J
    Am J Med Genet; 2002 Nov; 112(4):405-11. PubMed ID: 12376946
    [TBL] [Abstract][Full Text] [Related]  

  • 16. FISH-mapping of a 100-kb terminal 22q13 deletion.
    Anderlid BM; Schoumans J; Annerén G; Tapia-Paez I; Dumanski J; Blennow E; Nordenskjöld M
    Hum Genet; 2002 May; 110(5):439-43. PubMed ID: 12073014
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A 1.37-Mb 12p11.22-p11.21 deletion coincident with a 367-kb 22q11.2 duplication detected by array comparative genomic hybridization in an adolescent girl with autism and difficulty in self-care of menstruation.
    Chen CP; Lin SP; Chern SR; Wu PS; Su JW; Lee CC; Wang W
    Taiwan J Obstet Gynecol; 2014 Mar; 53(1):74-8. PubMed ID: 24767651
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Supernumerary chromosome der(22)t(11;22): Emanuel syndrome associates with novel features.
    Yosunkaya Fenerci E; Guven GS; Kuru D; Yilmaz S; Tarkan-Argüden Y; Cirakoglu A; Deviren A; Yüksel A; Hacihanefioğlu S
    Genet Couns; 2007; 18(4):401-8. PubMed ID: 18286821
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: a new susceptibility factor for mental retardation.
    Torres-Juan L; Rosell J; Morla M; Vidal-Pou C; García-Algas F; de la Fuente MA; Juan M; Tubau A; Bachiller D; Bernues M; Perez-Granero A; Govea N; Busquets X; Heine-Suñer D
    Eur J Hum Genet; 2007 Jun; 15(6):658-63. PubMed ID: 17377518
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Duplication of chromosome region (16)(p11.2 --> p12.1) in a mother and daughter with mild mental retardation.
    Engelen JJ; de Die-Smulders CE; Dirckx R; Verhoeven WM; Tuinier S; Curfs LM; Hamers AJ
    Am J Med Genet; 2002 Apr; 109(2):149-53. PubMed ID: 11977164
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.