135 related articles for article (PubMed ID: 22592906)
1. A complex chromosomal rearrangement involving chromosomes 2, 5, and X in autism spectrum disorder.
Griesi-Oliveira K; Moreira Dde P; Davis-Wright N; Sanders S; Mason C; Orabona GM; Vadasz E; Bertola DR; State MW; Passos-Bueno MR
Am J Med Genet B Neuropsychiatr Genet; 2012 Jul; 159B(5):529-36. PubMed ID: 22592906
[TBL] [Abstract][Full Text] [Related]
2. Unbalanced and balanced acrocentric rearrangements involving chromosomes other than chromosome 21 at amniocentesis.
Chen CP; Chern SR; Wu PC; Tsai FJ; Lee CC; Town DD; Chen WL; Chen LF; Lee MS; Pan CW; Wang W
Taiwan J Obstet Gynecol; 2009 Dec; 48(4):389-99. PubMed ID: 20045761
[TBL] [Abstract][Full Text] [Related]
3. Angelman Syndrome Caused by Chromosomal Rearrangements: A Case Report of 46,XX,+der(13)t(13;15)(q14.1;q12)mat,-15 with an Atypical Phenotype and Review of the Literature.
Niida Y; Sato H; Ozaki M; Itoh M; Ikeno K; Takase E
Cytogenet Genome Res; 2016; 149(4):247-257. PubMed ID: 27771696
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Subtelomeric chromosomal rearrangements detected in patients with idiopathic mental retardation and dysmorphic features.
Caliskan MO; Karauzum SB; Mihci E; Tacoy S; Luleci G
Genet Couns; 2005; 16(2):129-38. PubMed ID: 16080292
[TBL] [Abstract][Full Text] [Related]
6. [A case of pervasive developmental disorder with chromosomal translocation (X; 4) (p11; q13)].
Azzoni A; Raja M
Encephale; 2006; 32(3 Pt 1):325-7. PubMed ID: 16840925
[TBL] [Abstract][Full Text] [Related]
7. DNA methylation analysis of a de novo balanced X;13 translocation in a girl with abnormal phenotype: evidence for functional duplication of the whole short arm of the X chromosome.
Myszka A; Karpinski P; Makowska I; Lassota M; Przelozna B; Slezak R; Sasiadek MM
J Appl Genet; 2010; 51(3):331-5. PubMed ID: 20720308
[TBL] [Abstract][Full Text] [Related]
8. A de novo 6p interstitial deletion and a complex translocation involving chromosomes 2, 6, and 14 in a mildly developmentally delayed patient.
Misceo D; Bjørgo K; Ormerod E; Ringen Ø; Rocchi M; van der Hagen CB; Frengen E
Am J Med Genet A; 2008 Dec; 146A(24):3230-3. PubMed ID: 19012337
[No Abstract] [Full Text] [Related]
9. A new case of "complete" trisomy 5p with isochromosome 5p associated with a de novo translocation t(5;8)(q11;p23).
Fujita M; Flori E; Lemaire F; Casanova R; Astruc D
Clin Genet; 1994 Jun; 45(6):305-7. PubMed ID: 7923861
[TBL] [Abstract][Full Text] [Related]
10. A unique case of de novo 5q33.3-q34 triplication with uniparental isodisomy of 5q34-qter.
Fujita A; Suzumura H; Nakashima M; Tsurusaki Y; Saitsu H; Harada N; Matsumoto N; Miyake N
Am J Med Genet A; 2013 Aug; 161A(8):1904-9. PubMed ID: 23824987
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. New rearranged chromosomes t(2;3), t(7;14), t(8;11), and t(7;12;14), in a case of T-cell chronic lymphocytic leukemia.
Akao Y; Utsumi KR
Cancer Genet Cytogenet; 1995 Jun; 81(2):186. PubMed ID: 7621421
[No Abstract] [Full Text] [Related]
13. De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder.
Babbs C; Lloyd D; Pagnamenta AT; Twigg SR; Green J; McGowan SJ; Mirza G; Naples R; Sharma VP; Volpi EV; Buckle VJ; Wall SA; Knight SJ; ; Parr JR; Wilkie AO
J Med Genet; 2014 Nov; 51(11):737-47. PubMed ID: 25228304
[TBL] [Abstract][Full Text] [Related]
14. Characterization of an interstitial 4q32 deletion in a patient with mental retardation and a complex chromosome rearrangement.
Tzschach A; Menzel C; Erdogan F; Istifli ES; Rieger M; Ovens-Raeder A; Macke A; Ropers HH; Ullmann R; Kalscheuer V
Am J Med Genet A; 2010 Apr; 152A(4):1008-12. PubMed ID: 20358617
[TBL] [Abstract][Full Text] [Related]
15. Partial trisomy of distal 5q and partial monosomy of Xp as a result of mating between two translocation carriers: a female with a balanced translocation t(X;5)(p11;q31) and a male with a der(13;14)(q10;q10)--a case report and a family study.
Wysocka B; Brozek I; Wierzba J; Kardaś I; Woźniak A; Kowalczyk J; Balcerska A; Limon J
Ann Genet; 2002; 45(3):143-6. PubMed ID: 12381446
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. De novo complex chromosome rearrangement: a study of two patients.
Melo DG; Huber J; Giuliani LR; Mazzucatto LF; Riegel M; Pina-Neto JM
Genet Couns; 2004; 15(3):303-10. PubMed ID: 15517822
[TBL] [Abstract][Full Text] [Related]
18. Epigenetics of autism spectrum disorders.
Schanen NC
Hum Mol Genet; 2006 Oct; 15 Spec No 2():R138-50. PubMed ID: 16987877
[TBL] [Abstract][Full Text] [Related]
19. Complex de novo chromosomal rearrangement at 15q11-q13 involving an intrachromosomal triplication in a patient with a severe neuropsychological phenotype: clinical report and review of the literature.
Castronovo C; Crippa M; Bestetti I; Rusconi D; Russo S; Larizza L; Sangermani R; Bonati MT; Finelli P
Am J Med Genet A; 2015 Jan; 167A(1):221-30. PubMed ID: 25339188
[TBL] [Abstract][Full Text] [Related]
20. Prader-Willi syndrome and Tay-Sachs disease in association with mixed maternal uniparental isodisomy and heterodisomy 15 in a girl who also had isochromosome Xq.
Zeesman S; McCready E; Sadikovic B; Nowaczyk MJ
Am J Med Genet A; 2015 Jan; 167A(1):180-4. PubMed ID: 25287655
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
