234 related articles for article (PubMed ID: 19443486)
1. Segmental duplications mediate novel, clinically relevant chromosome rearrangements.
Rudd MK; Keene J; Bunke B; Kaminsky EB; Adam MP; Mulle JG; Ledbetter DH; Martin CL
Hum Mol Genet; 2009 Aug; 18(16):2957-62. PubMed ID: 19443486
[TBL] [Abstract][Full Text] [Related]
2. Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant.
Hannes FD; Sharp AJ; Mefford HC; de Ravel T; Ruivenkamp CA; Breuning MH; Fryns JP; Devriendt K; Van Buggenhout G; Vogels A; Stewart H; Hennekam RC; Cooper GM; Regan R; Knight SJ; Eichler EE; Vermeesch JR
J Med Genet; 2009 Apr; 46(4):223-32. PubMed ID: 18550696
[TBL] [Abstract][Full Text] [Related]
3. Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.
Ballif BC; Theisen A; Rosenfeld JA; Traylor RN; Gastier-Foster J; Thrush DL; Astbury C; Bartholomew D; McBride KL; Pyatt RE; Shane K; Smith WE; Banks V; Gallentine WB; Brock P; Rudd MK; Adam MP; Keene JA; Phillips JA; Pfotenhauer JP; Gowans GC; Stankiewicz P; Bejjani BA; Shaffer LG
Am J Hum Genet; 2010 Mar; 86(3):454-61. PubMed ID: 20206336
[TBL] [Abstract][Full Text] [Related]
4. Sperm rates of 7q11.23, 15q11q13 and 22q11.2 deletions and duplications: a FISH approach.
Molina O; Anton E; Vidal F; Blanco J
Hum Genet; 2011 Jan; 129(1):35-44. PubMed ID: 20931230
[TBL] [Abstract][Full Text] [Related]
5. Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes.
Riley KN; Catalano LM; Bernat JA; Adams SD; Martin DM; Lalani SR; Patel A; Burnside RD; Innis JW; Rudd MK
Am J Med Genet A; 2015 Nov; 167A(11):2664-73. PubMed ID: 26227573
[TBL] [Abstract][Full Text] [Related]
6. Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.
Gu S; Yuan B; Campbell IM; Beck CR; Carvalho CM; Nagamani SC; Erez A; Patel A; Bacino CA; Shaw CA; Stankiewicz P; Cheung SW; Bi W; Lupski JR
Hum Mol Genet; 2015 Jul; 24(14):4061-77. PubMed ID: 25908615
[TBL] [Abstract][Full Text] [Related]
7. Recurrent microdeletion 2q21.1: report on a new patient with neurological disorders.
Gimelli S; Stathaki E; Béna F; Leoni M; Di Rocco M; Cuoco C; Tassano E
Am J Med Genet A; 2014 Mar; 164A(3):801-5. PubMed ID: 24591035
[TBL] [Abstract][Full Text] [Related]
8. Germline rates of de novo meiotic deletions and duplications causing several genomic disorders.
Turner DJ; Miretti M; Rajan D; Fiegler H; Carter NP; Blayney ML; Beck S; Hurles ME
Nat Genet; 2008 Jan; 40(1):90-5. PubMed ID: 18059269
[TBL] [Abstract][Full Text] [Related]
9. Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion.
Cuscó I; Corominas R; Bayés M; Flores R; Rivera-Brugués N; Campuzano V; Pérez-Jurado LA
Genome Res; 2008 May; 18(5):683-94. PubMed ID: 18292220
[TBL] [Abstract][Full Text] [Related]
10. NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits.
Dittwald P; Gambin T; Szafranski P; Li J; Amato S; Divon MY; Rodríguez Rojas LX; Elton LE; Scott DA; Schaaf CP; Torres-Martinez W; Stevens AK; Rosenfeld JA; Agadi S; Francis D; Kang SH; Breman A; Lalani SR; Bacino CA; Bi W; Milosavljevic A; Beaudet AL; Patel A; Shaw CA; Lupski JR; Gambin A; Cheung SW; Stankiewicz P
Genome Res; 2013 Sep; 23(9):1395-409. PubMed ID: 23657883
[TBL] [Abstract][Full Text] [Related]
11. Evolutionary mechanisms shaping the genomic structure of the Williams-Beuren syndrome chromosomal region at human 7q11.23.
Antonell A; de Luis O; Domingo-Roura X; Pérez-Jurado LA
Genome Res; 2005 Sep; 15(9):1179-88. PubMed ID: 16140988
[TBL] [Abstract][Full Text] [Related]
12. Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications.
Wolfe K; McQuillin A; Alesi V; Boudry Labis E; Cutajar P; Dallapiccola B; Dentici ML; Dieux-Coeslier A; Duban-Bedu B; Duelund Hjortshøj T; Goel H; Loddo S; Morrogh D; Mosca-Boidron AL; Novelli A; Olivier-Faivre L; Parker J; Parker MJ; Patch C; Pelling AL; Smol T; Tümer Z; Vanakker O; van Haeringen A; Vanlerberghe C; Strydom A; Skuse D; Bass N
Am J Med Genet B Neuropsychiatr Genet; 2018 Jun; 177(4):397-405. PubMed ID: 29603867
[TBL] [Abstract][Full Text] [Related]
13. Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.
Stankiewicz P; Kulkarni S; Dharmadhikari AV; Sampath S; Bhatt SS; Shaikh TH; Xia Z; Pursley AN; Cooper ML; Shinawi M; Paciorkowski AR; Grange DK; Noetzel MJ; Saunders S; Simons P; Summar M; Lee B; Scaglia F; Fellmann F; Martinet D; Beckmann JS; Asamoah A; Platky K; Sparks S; Martin AS; Madan-Khetarpal S; Hoover J; Medne L; Bonnemann CG; Moeschler JB; Vallee SE; Parikh S; Irwin P; Dalzell VP; Smith WE; Banks VC; Flannery DB; Lovell CM; Bellus GA; Golden-Grant K; Gorski JL; Kussmann JL; McGregor TL; Hamid R; Pfotenhauer J; Ballif BC; Shaw CA; Kang SH; Bacino CA; Patel A; Rosenfeld JA; Cheung SW; Shaffer LG
Hum Mutat; 2012 Jan; 33(1):165-79. PubMed ID: 21948486
[TBL] [Abstract][Full Text] [Related]
14. Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders.
Shaw CJ; Shaw CA; Yu W; Stankiewicz P; White LD; Beaudet AL; Lupski JR
J Med Genet; 2004 Feb; 41(2):113-9. PubMed ID: 14757858
[TBL] [Abstract][Full Text] [Related]
15. A common copy-number breakpoint of ERBB2 amplification in breast cancer colocalizes with a complex block of segmental duplications.
Marotta M; Chen X; Inoshita A; Stephens R; Budd GT; Crowe JP; Lyons J; Kondratova A; Tubbs R; Tanaka H
Breast Cancer Res; 2012 Nov; 14(6):R150. PubMed ID: 23181561
[TBL] [Abstract][Full Text] [Related]
16. Parental imbalances involving chromosomes 15q and 22q may predispose to the formation of de novo pathogenic microdeletions and microduplications in the offspring.
Capra V; Mascelli S; Garrè ML; Nozza P; Vaccari C; Bricco L; Sloan-Béna F; Gimelli S; Cuoco C; Gimelli G; Tassano E
PLoS One; 2013; 8(3):e57910. PubMed ID: 23483941
[TBL] [Abstract][Full Text] [Related]
17. Genomic and clinical characteristics of microduplications in chromosome 17.
Shchelochkov OA; Cheung SW; Lupski JR
Am J Med Genet A; 2010 May; 152A(5):1101-10. PubMed ID: 20425816
[TBL] [Abstract][Full Text] [Related]
18. A recurrent deletion syndrome at chromosome bands 2p11.2-2p12 flanked by segmental duplications at the breakpoints and including REEP1.
Stevens SJ; Blom EW; Siegelaer IT; Smeets EE
Eur J Hum Genet; 2015 Apr; 23(4):543-6. PubMed ID: 24986827
[TBL] [Abstract][Full Text] [Related]
19. Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth.
Malan V; Chevallier S; Soler G; Coubes C; Lacombe D; Pasquier L; Soulier J; Morichon-Delvallez N; Turleau C; Munnich A; Romana S; Vekemans M; Cormier-Daire V; Colleaux L
Eur J Hum Genet; 2010 Feb; 18(2):227-32. PubMed ID: 19844265
[TBL] [Abstract][Full Text] [Related]
20. Segmental duplications and copy-number variation in the human genome.
Sharp AJ; Locke DP; McGrath SD; Cheng Z; Bailey JA; Vallente RU; Pertz LM; Clark RA; Schwartz S; Segraves R; Oseroff VV; Albertson DG; Pinkel D; Eichler EE
Am J Hum Genet; 2005 Jul; 77(1):78-88. PubMed ID: 15918152
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
