BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

166 related articles for article (PubMed ID: 19156171)

  • 1. An 8.9 Mb 19p13 duplication associated with precocious puberty and a sporadic 3.9 Mb 2q23.3q24.1 deletion containing NR4A2 in mentally retarded members of a family with an intrachromosomal 19p-into-19q between-arm insertion.
    Lybaek H; Ørstavik KH; Prescott T; Hovland R; Breilid H; Stansberg C; Steen VM; Houge G
    Eur J Hum Genet; 2009 Jul; 17(7):904-10. PubMed ID: 19156171
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 15q24.1 BP4-BP1 microdeletion unmasking paternally inherited functional polymorphisms combined with distal 15q24.2q24.3 duplication in a patient with epilepsy, psychomotor delay, overweight, ventricular arrhythmia.
    Huynh MT; Lambert AS; Tosca L; Petit F; Philippe C; Parisot F; Benoît V; Linglart A; Brisset S; Tran CT; Tachdjian G; Receveur A
    Eur J Med Genet; 2018 Aug; 61(8):459-464. PubMed ID: 29549028
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Pure duplication of 19p13.3 in three members of a family with intellectual disability and literature review. Definition of a new microduplication syndrome.
    Orellana C; Roselló M; Monfort S; Mayo S; Oltra S; Martínez F
    Am J Med Genet A; 2015 Jul; 167(7):1614-20. PubMed ID: 25858326
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Microdeletion 2q23.3q24.1: exploring genotype-phenotype correlations.
    Milani D; Sabatini C; Manzoni FM; Ajmone PF; Rigamonti C; Malacarne M; Pierluigi M; Cavani S; Costantino MA
    Congenit Anom (Kyoto); 2015 May; 55(2):107-11. PubMed ID: 25174267
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A boy with mild mental retardation, mild sensorineural hearing loss and mild facial dysmorphism caused by a 19p13.2 deletion: a case report and review of the literature.
    Schwemmle C; Rost I; Spranger S; Jungheim M; Ptok M
    Int J Pediatr Otorhinolaryngol; 2014 Jul; 78(7):1190-3. PubMed ID: 24814572
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Osteogenesis imperfecta, tricho-dento-osseous syndrome and intellectual disability: a familial case with 17q21.33-q22 (COL1A1 and DLX3) deletion and 7q32.3-q33 duplication resulting from a reciprocal interchromosomal insertion.
    Harbuz R; Bilan F; Couet D; Charraud V; Kitzis A; Gilbert-Dussardier B
    Am J Med Genet A; 2013 Oct; 161A(10):2504-11. PubMed ID: 23949819
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Paracentric inversion of chromosome 2 associated with cryptic duplication of 2q14 and deletion of 2q37 in a patient with autism.
    Devillard F; Guinchat V; Moreno-De-Luca D; Tabet AC; Gruchy N; Guillem P; Nguyen Morel MA; Leporrier N; Leboyer M; Jouk PS; Lespinasse J; Betancur C
    Am J Med Genet A; 2010 Sep; 152A(9):2346-54. PubMed ID: 20684015
    [TBL] [Abstract][Full Text] [Related]  

  • 9. The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.
    van Bon BW; Koolen DA; Brueton L; McMullan D; Lichtenbelt KD; Adès LC; Peters G; Gibson K; Moloney S; Novara F; Pramparo T; Dalla Bernardina B; Zoccante L; Balottin U; Piazza F; Pecile V; Gasparini P; Guerci V; Kets M; Pfundt R; de Brouwer AP; Veltman JA; de Leeuw N; Wilson M; Antony J; Reitano S; Luciano D; Fichera M; Romano C; Brunner HG; Zuffardi O; de Vries BB
    Eur J Hum Genet; 2010 Feb; 18(2):163-70. PubMed ID: 19809484
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Molecular cytogenetic characterization of a 2q35-q37 duplication and a 4q35.1-q35.2 deletion in two cousins: a genotype-phenotype analysis.
    Ronzoni L; Peron A; Bianchi V; Baccarin M; Guerneri S; Silipigni R; Lalatta F; Bedeschi MF
    Am J Med Genet A; 2015 Jul; 167(7):1551-9. PubMed ID: 25851921
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Characterization of interstitial Xp duplications in two families by tiling path array CGH.
    Tzschach A; Chen W; Erdogan F; Hoeller A; Ropers HH; Castellan C; Ullmann R; Schinzel A
    Am J Med Genet A; 2008 Jan; 146A(2):197-203. PubMed ID: 18076117
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.
    Mullegama SV; Rosenfeld JA; Orellana C; van Bon BW; Halbach S; Repnikova EA; Brick L; Li C; Dupuis L; Rosello M; Aradhya S; Stavropoulos DJ; Manickam K; Mitchell E; Hodge JC; Talkowski ME; Gusella JF; Keller K; Zonana J; Schwartz S; Pyatt RE; Waggoner DJ; Shaffer LG; Lin AE; de Vries BB; Mendoza-Londono R; Elsea SH
    Eur J Hum Genet; 2014 Jan; 22(1):57-63. PubMed ID: 23632792
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Molecular cytogenetic characterization of multiple intrachromosomal rearrangements of chromosome 2q in a patient with Waardenburg's syndrome and other congenital defects.
    Shim SH; Wyandt HE; McDonald-McGinn DM; Zackai EZ; Milunsky A
    Clin Genet; 2004 Jul; 66(1):46-52. PubMed ID: 15200507
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Inv21p12q22del21q22 and intellectual disability.
    Oliveira R; Dória S; Madureira C; Lima V; Almeida C; Pinho MJ; Ramalho C; Matoso E; Barros A; Carreira IM; Moura CP
    Gene; 2013 Mar; 517(1):120-4. PubMed ID: 23266646
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 3q29 interstitial microduplication: a new syndrome in a three-generation family.
    Lisi EC; Hamosh A; Doheny KF; Squibb E; Jackson B; Galczynski R; Thomas GH; Batista DA
    Am J Med Genet A; 2008 Mar; 146A(5):601-9. PubMed ID: 18241066
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A familial "balanced" 3;9 translocation with cryptic 8q insertion leading to deletion and duplication of 9p23 loci in siblings.
    Wagstaff J; Hemann M
    Am J Hum Genet; 1995 Jan; 56(1):302-9. PubMed ID: 7825591
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Detection of cryptic chromosome aberrations in a patient with a balanced t(1;9)(p34.2;p24) by array-based comparative genomic hybridization.
    Hayashi S; Kurosawa K; Imoto I; Mizutani S; Inazawa J
    Am J Med Genet A; 2005 Nov; 139(1):32-6. PubMed ID: 16222686
    [TBL] [Abstract][Full Text] [Related]  

  • 18. High resolution microarray CGH and MLPA analysis for improved genotype/phenotype evaluation of two childhood genetic disorder cases: ring chromosome 19 and partial duplication 2q.
    Hermsen MA; Tijssen M; Acero IH; Meijer GA; Ylstra B; Toral JF
    Eur J Med Genet; 2005; 48(3):310-8. PubMed ID: 16179226
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Duplication of Xq26.2-q27.1, including SOX3, in a mother and daughter with short stature and dyslalia.
    Stankiewicz P; Thiele H; Schlicker M; Cseke-Friedrich A; Bartel-Friedrich S; Yatsenko SA; Lupski JR; Hansmann I
    Am J Med Genet A; 2005 Sep; 138(1):11-7. PubMed ID: 16097007
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation.
    Pramparo T; de Gregori M; Gimelli S; Ciccone R; Frondizi D; Liehr T; Pellacani S; Masi G; Brovedani P; Zuffardi O; Guerrini R
    Am J Med Genet A; 2008 Jul; 146A(13):1754-60. PubMed ID: 18546282
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.