BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

334 related articles for article (PubMed ID: 24217254)

  • 1. Evidence that duplications of 22q11.2 protect against schizophrenia.
    Rees E; Kirov G; Sanders A; Walters JT; Chambert KD; Shi J; Szatkiewicz J; O'Dushlaine C; Richards AL; Green EK; Jones I; Davies G; Legge SE; Moran JL; Pato C; Pato M; Genovese G; Levinson D; Duan J; Moy W; Göring HH; Morris D; Cormican P; Kendler KS; O'Neill FA; Riley B; Gill M; Corvin A; ; Craddock N; Sklar P; Hultman C; Sullivan PF; Gejman PV; McCarroll SA; O'Donovan MC; Owen MJ
    Mol Psychiatry; 2014 Jan; 19(1):37-40. PubMed ID: 24217254
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Risk of Psychiatric Disorders Among Individuals With the 22q11.2 Deletion or Duplication: A Danish Nationwide, Register-Based Study.
    Hoeffding LK; Trabjerg BB; Olsen L; Mazin W; Sparsø T; Vangkilde A; Mortensen PB; Pedersen CB; Werge T
    JAMA Psychiatry; 2017 Mar; 74(3):282-290. PubMed ID: 28114601
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Atypical 22q11.2 Microduplication with "Typical" Signs and Overgrowth.
    Fischer M; Klopocki E
    Cytogenet Genome Res; 2020; 160(11-12):659-663. PubMed ID: 33472199
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 22q11.2 duplications in a UK cohort with bladder exstrophy-epispadias complex.
    Beaman GM; Woolf AS; Cervellione RM; Keene D; Mushtaq I; Urquhart JE; Stuart HM; Newman WG
    Am J Med Genet A; 2019 Mar; 179(3):404-409. PubMed ID: 30628148
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Distal 22q11.2 microduplication combined with typical 22q11.2 proximal deletion: a case report.
    Molck MC; Vieira TP; Simioni M; Sgardioli IC; dos Santos AP; Xavier AC; Gil-da-Silva-Lopes VL
    Am J Med Genet A; 2015 Jan; 167A(1):215-20. PubMed ID: 25358462
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Prenatal phenotype of 22q11 micro-duplications: A systematic review and report on 12 new cases.
    Mary L; Lavillaureix A; Perrot A; Loget P; Launay E; Leborgne AS; Demurger F; Fradin M; Le Bouar G; Quélin C; Dubourg C; Pasquier L; Odent S; Belaud-Rotureau MA; Jaillard S
    Eur J Med Genet; 2022 Feb; 65(2):104422. PubMed ID: 35026468
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Atypical nested 22q11.2 duplications between LCR22B and LCR22D are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetrance.
    Woodward KJ; Stampalia J; Vanyai H; Rijhumal H; Potts K; Taylor F; Peverall J; Grumball T; Sivamoorthy S; Alinejad-Rokny H; Wray J; Whitehouse A; Nagarajan L; Scurlock J; Afchani S; Edwards M; Murch A; Beilby J; Baynam G; Kiraly-Borri C; McKenzie F; Heng JIT
    Mol Genet Genomic Med; 2019 Feb; 7(2):e00507. PubMed ID: 30614210
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A loss-of-function mutation p.T52S in RIPPLY3 is a potential predisposing genetic risk factor for Chinese Han conotruncal heart defect patients without the 22q11.2 deletion/duplication.
    Hong N; Zhang E; Wang Q; Zhang X; Li F; Fu Q; Xu R; Yu Y; Chen S; Xu Y; Sun K
    J Transl Med; 2018 Sep; 16(1):260. PubMed ID: 30241482
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome.
    Bassett AS; Lowther C; Merico D; Costain G; Chow EWC; van Amelsvoort T; McDonald-McGinn D; Gur RE; Swillen A; Van den Bree M; Murphy K; Gothelf D; Bearden CE; Eliez S; Kates W; Philip N; Sashi V; Campbell L; Vorstman J; Cubells J; Repetto GM; Simon T; Boot E; Heung T; Evers R; Vingerhoets C; van Duin E; Zackai E; Vergaelen E; Devriendt K; Vermeesch JR; Owen M; Murphy C; Michaelovosky E; Kushan L; Schneider M; Fremont W; Busa T; Hooper S; McCabe K; Duijff S; Isaev K; Pellecchia G; Wei J; Gazzellone MJ; Scherer SW; Emanuel BS; Guo T; Morrow BE; Marshall CR;
    Am J Psychiatry; 2017 Nov; 174(11):1054-1063. PubMed ID: 28750581
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Case history and genome-wide scans for copy number variants in a family with patient having 15q11.1-q11.2 duplication and 22q11.2 deletion, and schizophrenia.
    Takahashi S; Suzuki T; Nakamura-Tomizuka S; Osaki K; Sotome Y; Sagawa T; Uchiyama M
    Am J Med Genet B Neuropsychiatr Genet; 2015 Jun; 168B(4):229-35. PubMed ID: 25776014
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome.
    Bassett AS; Marshall CR; Lionel AC; Chow EW; Scherer SW
    Hum Mol Genet; 2008 Dec; 17(24):4045-53. PubMed ID: 18806272
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Pachygyria, seizures, hypotonia, and growth retardation in a patient with an atypical 1.33Mb inherited microduplication at 22q11.23.
    Chang J; Zhao L; Chen C; Peng Y; Xia Y; Tang G; Bai T; Zhang Y; Ma R; Guo R; Mei L; Liang D; Cao Q; Wu L
    Gene; 2015 Sep; 569(1):46-50. PubMed ID: 26099517
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Microduplications in 22q11.2 and 8q22.1 associated with mild mental retardation and generalized overgrowth.
    Tarsitano M; Ceglia C; Novelli A; Capalbo A; Lombardo B; Pastore L; Fioretti G; Vicari L; Pisanti MA; Friso P; Cavaliere ML
    Gene; 2014 Feb; 536(1):213-6. PubMed ID: 24315824
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Genotypic and phenotypic variability of 22q11.2 microduplications: An institutional experience.
    Yu A; Turbiville D; Xu F; Ray JW; Britt AD; Lupo PJ; Jain SK; Shattuck KE; Robinson SS; Dong J
    Am J Med Genet A; 2019 Nov; 179(11):2178-2189. PubMed ID: 31479204
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Copy number variation at the 22q11.2 locus influences prevalence, severity, and psychiatric impact of sleep disturbance.
    O'Hora KP; Lin A; Kushan-Wells L; Bearden CE
    J Neurodev Disord; 2022 Jul; 14(1):41. PubMed ID: 35820809
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Copy Number Variants Are Enriched in Individuals With Early-Onset Obesity and Highlight Novel Pathogenic Pathways.
    Pettersson M; Viljakainen H; Loid P; Mustila T; Pekkinen M; Armenio M; Andersson-Assarsson JC; Mäkitie O; Lindstrand A
    J Clin Endocrinol Metab; 2017 Aug; 102(8):3029-3039. PubMed ID: 28605459
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Prevalence of rearrangements in the 22q11.2 region and population-based risk of neuropsychiatric and developmental disorders in a Danish population: a case-cohort study.
    Olsen L; Sparsø T; Weinsheimer SM; Dos Santos MBQ; Mazin W; Rosengren A; Sanchez XC; Hoeffding LK; Schmock H; Baekvad-Hansen M; Bybjerg-Grauholm J; Daly MJ; Neale BM; Pedersen MG; Agerbo E; Mors O; Børglum A; Nordentoft M; Hougaard DM; Mortensen PB; Geschwind DH; Pedersen C; Thompson WK; Werge T
    Lancet Psychiatry; 2018 Jul; 5(7):573-580. PubMed ID: 29886042
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Copy number variations in multicystic dysplastic kidney: update for prenatal diagnosis and genetic counseling.
    Xi Q; Zhu X; Wang Y; Ru T; Dai C; Wang Z; Li J; Hu Y
    Prenat Diagn; 2016 May; 36(5):463-8. PubMed ID: 26941192
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Schizophrenia and chromosomal deletions within 22q11.2.
    Lindsay EA; Morris MA; Gos A; Nestadt G; Wolyniec PS; Lasseter VK; Shprintzen R; Antonarakis SE; Baldini A; Pulver AE
    Am J Hum Genet; 1995 Jun; 56(6):1502-3. PubMed ID: 7762575
    [No Abstract]   [Full Text] [Related]  

  • 20. 22q11.2 duplications: Expanding the clinical presentation.
    Bartik LE; Hughes SS; Tracy M; Feldt MM; Zhang L; Arganbright J; Kaye A
    Am J Med Genet A; 2022 Mar; 188(3):779-787. PubMed ID: 34845825
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 17.