143 related articles for article (PubMed ID: 38576798)
1. Detection of 4p16.3 deletion and 11p15.5p15.4 gain in a boy by comparative genomic hybridization array: A case report.
Kaya I
World J Clin Cases; 2024 Mar; 12(8):1517-1522. PubMed ID: 38576798
[TBL] [Abstract][Full Text] [Related]
2. 4p16.3 microdeletions and microduplications detected by chromosomal microarray analysis: New insights into mechanisms and critical regions.
Bi W; Cheung SW; Breman AM; Bacino CA
Am J Med Genet A; 2016 Oct; 170(10):2540-50. PubMed ID: 27287194
[TBL] [Abstract][Full Text] [Related]
3. Co-occurrence of 4p16.3 deletions with both paternal and maternal duplications of 11p15: modification of the Wolf-Hirschhorn syndrome phenotype by genetic alterations predicted to result in either a Beckwith-Wiedemann or Russell-Silver phenotype.
South ST; Whitby H; Maxwell T; Aston E; Brothman AR; Carey JC
Am J Med Genet A; 2008 Oct; 146A(20):2691-7. PubMed ID: 18798325
[TBL] [Abstract][Full Text] [Related]
4. Detection of recurrent 4p16.3 microdeletion with 2p25.3 microduplication by multiplex ligation-dependent probe amplification and array comparative genomic hybridization in a fetus from a family with Wolf-Hirschhorn syndrome.
Yang WX; Pan H; Wang ST; Li L; Wu HR; Qi Y
Taiwan J Obstet Gynecol; 2016 Feb; 55(1):104-8. PubMed ID: 26927259
[TBL] [Abstract][Full Text] [Related]
5. Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes.
Ou Z; Stankiewicz P; Xia Z; Breman AM; Dawson B; Wiszniewska J; Szafranski P; Cooper ML; Rao M; Shao L; South ST; Coleman K; Fernhoff PM; Deray MJ; Rosengren S; Roeder ER; Enciso VB; Chinault AC; Patel A; Kang SH; Shaw CA; Lupski JR; Cheung SW
Genome Res; 2011 Jan; 21(1):33-46. PubMed ID: 21205869
[TBL] [Abstract][Full Text] [Related]
6. Molecular mechanisms for genomic disorders.
Inoue K; Lupski JR
Annu Rev Genomics Hum Genet; 2002; 3():199-242. PubMed ID: 12142364
[TBL] [Abstract][Full Text] [Related]
7. Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS.
Zhang F; Potocki L; Sampson JB; Liu P; Sanchez-Valle A; Robbins-Furman P; Navarro AD; Wheeler PG; Spence JE; Brasington CK; Withers MA; Lupski JR
Am J Hum Genet; 2010 Mar; 86(3):462-70. PubMed ID: 20188345
[TBL] [Abstract][Full Text] [Related]
8. The genomic basis of disease, mechanisms and assays for genomic disorders.
Stankiewicz P; Lupski JR
Genome Dyn; 2006; 1():1-16. PubMed ID: 18724050
[TBL] [Abstract][Full Text] [Related]
9. A novel third type of recurrent NF1 microdeletion mediated by nonallelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2.
Bengesser K; Cooper DN; Steinmann K; Kluwe L; Chuzhanova NA; Wimmer K; Tatagiba M; Tinschert S; Mautner VF; Kehrer-Sawatzki H
Hum Mutat; 2010 Jun; 31(6):742-51. PubMed ID: 20506354
[TBL] [Abstract][Full Text] [Related]
10. Impact of low copy repeats on the generation of balanced and unbalanced chromosomal aberrations in mental retardation.
Erdogan F; Chen W; Kirchhoff M; Kalscheuer VM; Hultschig C; Müller I; Schulz R; Menzel C; Bryndorf T; Ropers HH; Ullmann R
Cytogenet Genome Res; 2006; 115(3-4):247-53. PubMed ID: 17124407
[TBL] [Abstract][Full Text] [Related]
11. Inverted low-copy repeats and genome instability--a genome-wide analysis.
Dittwald P; Gambin T; Gonzaga-Jauregui C; Carvalho CM; Lupski JR; Stankiewicz P; Gambin A
Hum Mutat; 2013 Jan; 34(1):210-20. PubMed ID: 22965494
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. De novo deletions and duplications detected by array CGH: a study of parental origin in relation to mechanisms of formation and size of imbalance.
Sibbons C; Morris JK; Crolla JA; Jacobs PA; Thomas NS
Eur J Hum Genet; 2012 Feb; 20(2):155-60. PubMed ID: 21952720
[TBL] [Abstract][Full Text] [Related]
14. A previously unrecognized microdeletion syndrome on chromosome 22 band q11.2 encompassing the BCR gene.
Mikhail FM; Descartes M; Piotrowski A; Andersson R; Diaz de Ståhl T; Komorowski J; Bruder CE; Dumanski JP; Carroll AJ
Am J Med Genet A; 2007 Sep; 143A(18):2178-84. PubMed ID: 17676630
[TBL] [Abstract][Full Text] [Related]
15. Familial 1.3-Mb 11p15.5p15.4 Duplication in Three Generations Causing Silver-Russell and Beckwith-Wiedemann Syndromes.
Vals MA; Kahre T; Mee P; Muru K; Kallas E; Žilina O; Tillmann V; Õunap K
Mol Syndromol; 2015 Sep; 6(3):147-51. PubMed ID: 26732610
[TBL] [Abstract][Full Text] [Related]
16. Screening of copy number variants in the 22q11.2 region of congenital heart disease patients from the São Miguel Island, Azores, revealed the second patient with a triplication.
Pires R; Pires LM; Vaz SO; Maciel P; Anjos R; Moniz R; Branco CC; Cabral R; Carreira IM; Mota-Vieira L
BMC Genet; 2014 Nov; 15():115. PubMed ID: 25376777
[TBL] [Abstract][Full Text] [Related]
17. 18q22.1-qter deletion and 4p16.3 microduplication in a boy with speech delay and mental retardation: case report and review of the literature.
Wang C; Ren H; Dong H; Liang M; Wu Q; Liao Y
Mol Cytogenet; 2018; 11():55. PubMed ID: 30377449
[TBL] [Abstract][Full Text] [Related]
18. Co-existence of 9p deletion and Silver-Russell syndromes in a patient with maternally inherited cryptic complex chromosome rearrangement involving chromosomes 4, 9, and 11.
Hu J; Sathanoori M; Kochmar S; Madan-Khetarpal S; McGuire M; Surti U
Am J Med Genet A; 2013 Jan; 161A(1):179-84. PubMed ID: 23225375
[TBL] [Abstract][Full Text] [Related]
19. "Tandem" duplication of 4p16.1p16.3 chromosome region associated with 4p16.3pter molecular deletion resulting in Wolf-Hirschhorn syndrome phenotype.
Zollino M; Wright TJ; Di Stefano C; Tosolini A; Battaglia A; Altherr MR; Neri G
Am J Med Genet; 1999 Feb; 82(5):371-5. PubMed ID: 10069706
[TBL] [Abstract][Full Text] [Related]
20. Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates.
Yuan B; Liu P; Gupta A; Beck CR; Tejomurtula A; Campbell IM; Gambin T; Simmons AD; Withers MA; Harris RA; Rogers J; Schwartz DC; Lupski JR
PLoS Genet; 2015 Dec; 11(12):e1005686. PubMed ID: 26641089
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
