789 related articles for article (PubMed ID: 19755429)
1. 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]
2. Copy number and sequence variants implicate APBA2 as an autism candidate gene.
Babatz TD; Kumar RA; Sudi J; Dobyns WB; Christian SL
Autism Res; 2009 Dec; 2(6):359-64. PubMed ID: 20029827
[TBL] [Abstract][Full Text] [Related]
3. Recurrent 16p11.2 microdeletions in autism.
Kumar RA; KaraMohamed S; Sudi J; Conrad DF; Brune C; Badner JA; Gilliam TC; Nowak NJ; Cook EH; Dobyns WB; Christian SL
Hum Mol Genet; 2008 Feb; 17(4):628-38. PubMed ID: 18156158
[TBL] [Abstract][Full Text] [Related]
4. A variant Cri du Chat phenotype and autism spectrum disorder in a subject with de novo cryptic microdeletions involving 5p15.2 and 3p24.3-25 detected using whole genomic array CGH.
Harvard C; Malenfant P; Koochek M; Creighton S; Mickelson EC; Holden JJ; Lewis ME; Rajcan-Separovic E
Clin Genet; 2005 Apr; 67(4):341-51. PubMed ID: 15733271
[TBL] [Abstract][Full Text] [Related]
5. Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder.
Chung BH; Drmic I; Marshall CR; Grafodatskaya D; Carter M; Fernandez BA; Weksberg R; Roberts W; Scherer SW
Eur J Med Genet; 2011; 54(5):e516-20. PubMed ID: 21689796
[TBL] [Abstract][Full Text] [Related]
6. Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes.
Bruno DL; Anderlid BM; Lindstrand A; van Ravenswaaij-Arts C; Ganesamoorthy D; Lundin J; Martin CL; Douglas J; Nowak C; Adam MP; Kooy RF; Van der Aa N; Reyniers E; Vandeweyer G; Stolte-Dijkstra I; Dijkhuizen T; Yeung A; Delatycki M; Borgström B; Thelin L; Cardoso C; van Bon B; Pfundt R; de Vries BB; Wallin A; Amor DJ; James PA; Slater HR; Schoumans J
J Med Genet; 2010 May; 47(5):299-311. PubMed ID: 20452996
[TBL] [Abstract][Full Text] [Related]
7. Association between microdeletion and microduplication at 16p11.2 and autism.
Weiss LA; Shen Y; Korn JM; Arking DE; Miller DT; Fossdal R; Saemundsen E; Stefansson H; Ferreira MA; Green T; Platt OS; Ruderfer DM; Walsh CA; Altshuler D; Chakravarti A; Tanzi RE; Stefansson K; Santangelo SL; Gusella JF; Sklar P; Wu BL; Daly MJ;
N Engl J Med; 2008 Feb; 358(7):667-75. PubMed ID: 18184952
[TBL] [Abstract][Full Text] [Related]
8. Cognitive and behavioral characterization of 16p11.2 deletion syndrome.
Hanson E; Nasir RH; Fong A; Lian A; Hundley R; Shen Y; Wu BL; Holm IA; Miller DT;
J Dev Behav Pediatr; 2010 Oct; 31(8):649-57. PubMed ID: 20613623
[TBL] [Abstract][Full Text] [Related]
9. A familial 593-kb microdeletion of 16p11.2 associated with mental retardation and hemivertebrae.
Shimojima K; Inoue T; Fujii Y; Ohno K; Yamamoto T
Eur J Med Genet; 2009; 52(6):433-5. PubMed ID: 19770079
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Copy number changes of the microcephalin 1 gene (MCPH1) in patients with autism spectrum disorders.
Ozgen HM; van Daalen E; Bolton PF; Maloney VK; Huang S; Cresswell L; van den Boogaard MJ; Eleveld MJ; van 't Slot R; Hochstenbach R; Beemer FA; Barrow M; Barber JC; Poot M
Clin Genet; 2009 Oct; 76(4):348-56. PubMed ID: 19793310
[TBL] [Abstract][Full Text] [Related]
12. Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders.
Depienne C; Moreno-De-Luca D; Heron D; Bouteiller D; Gennetier A; Delorme R; Chaste P; Siffroi JP; Chantot-Bastaraud S; Benyahia B; Trouillard O; Nygren G; Kopp S; Johansson M; Rastam M; Burglen L; Leguern E; Verloes A; Leboyer M; Brice A; Gillberg C; Betancur C
Biol Psychiatry; 2009 Aug; 66(4):349-59. PubMed ID: 19278672
[TBL] [Abstract][Full Text] [Related]
13. Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation.
Ullmann R; Turner G; Kirchhoff M; Chen W; Tonge B; Rosenberg C; Field M; Vianna-Morgante AM; Christie L; Krepischi-Santos AC; Banna L; Brereton AV; Hill A; Bisgaard AM; Müller I; Hultschig C; Erdogan F; Wieczorek G; Ropers HH
Hum Mutat; 2007 Jul; 28(7):674-82. PubMed ID: 17480035
[TBL] [Abstract][Full Text] [Related]
14. Genotype-phenotype analysis of 18q12.1-q12.2 copy number variation in autism.
Wang P; Carrion P; Qiao Y; Tyson C; Hrynchak M; Calli K; Lopez-Rangel E; Andrieux J; Delobel B; Duban-Bedu B; Thuresson AC; Annerén G; Liu X; Rajcan-Separovic E; Suzanne Lewis ME
Eur J Med Genet; 2013 Aug; 56(8):420-5. PubMed ID: 23727450
[TBL] [Abstract][Full Text] [Related]
15. Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features.
Battaglia A; Doccini V; Bernardini L; Novelli A; Loddo S; Capalbo A; Filippi T; Carey JC
Eur J Paediatr Neurol; 2013 Nov; 17(6):589-99. PubMed ID: 23711909
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size.
Shinawi M; Liu P; Kang SH; Shen J; Belmont JW; Scott DA; Probst FJ; Craigen WJ; Graham BH; Pursley A; Clark G; Lee J; Proud M; Stocco A; Rodriguez DL; Kozel BA; Sparagana S; Roeder ER; McGrew SG; Kurczynski TW; Allison LJ; Amato S; Savage S; Patel A; Stankiewicz P; Beaudet AL; Cheung SW; Lupski JR
J Med Genet; 2010 May; 47(5):332-41. PubMed ID: 19914906
[TBL] [Abstract][Full Text] [Related]
18. Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother.
Tabet AC; Pilorge M; Delorme R; Amsellem F; Pinard JM; Leboyer M; Verloes A; Benzacken B; Betancur C
Eur J Hum Genet; 2012 May; 20(5):540-6. PubMed ID: 22234155
[TBL] [Abstract][Full Text] [Related]
19. Alport syndrome. Molecular genetic aspects.
Hertz JM
Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
[TBL] [Abstract][Full Text] [Related]
20. Identification and molecular characterization of two novel chromosomal deletions associated with autism.
Chien WH; Gau SS; Wu YY; Huang YS; Fang JS; Chen YJ; Soong WT; Chiu YN; Chen CH
Clin Genet; 2010 Nov; 78(5):449-56. PubMed ID: 20236125
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]