195 related articles for article (PubMed ID: 16075459)
1. Chromosome rearrangements in cornelia de Lange syndrome (CdLS): report of a der(3)t(3;12)(p25.3;p13.3) in two half sibs with features of CdLS and review of reported CdLS cases with chromosome rearrangements.
DeScipio C; Kaur M; Yaeger D; Innis JW; Spinner NB; Jackson LG; Krantz ID
Am J Med Genet A; 2005 Sep; 137A(3):276-82. PubMed ID: 16075459
[TBL] [Abstract][Full Text] [Related]
2. Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome.
Gervasini C; Picinelli C; Azzollini J; Rusconi D; Masciadri M; Cereda A; Marzocchi C; Zampino G; Selicorni A; Tenconi R; Russo S; Larizza L; Finelli P
BMC Med Genet; 2013 Apr; 14():41. PubMed ID: 23551878
[TBL] [Abstract][Full Text] [Related]
3. Fortuitous detection of a submicroscopic deletion at 1q25 in a girl with Cornelia-de Lange syndrome carrying t(5;13)(p13.1;q12.1) by array-based comparative genomic hybridization.
Hayashi S; Ono M; Makita Y; Imoto I; Mizutani S; Inazawa J
Am J Med Genet A; 2007 Jun; 143A(11):1191-7. PubMed ID: 17497725
[TBL] [Abstract][Full Text] [Related]
4. Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients.
Schoumans J; Wincent J; Barbaro M; Djureinovic T; Maguire P; Forsberg L; Staaf J; Thuresson AC; Borg A; Nordgren A; Malm G; Anderlid BM
Eur J Hum Genet; 2007 Feb; 15(2):143-9. PubMed ID: 17106445
[TBL] [Abstract][Full Text] [Related]
5. Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotype.
Gervasini C; Parenti I; Picinelli C; Azzollini J; Masciadri M; Cereda A; Selicorni A; Russo S; Finelli P; Larizza L
Eur J Med Genet; 2013 Mar; 56(3):138-43. PubMed ID: 23313159
[TBL] [Abstract][Full Text] [Related]
6. NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype-phenotype correlation.
Pehlivan D; Hullings M; Carvalho CM; Gonzaga-Jauregui CG; Loy E; Jackson LG; Krantz ID; Deardorff MA; Lupski JR
Genet Med; 2012 Mar; 14(3):313-22. PubMed ID: 22241092
[TBL] [Abstract][Full Text] [Related]
7. Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients.
Russo S; Masciadri M; Gervasini C; Azzollini J; Cereda A; Zampino G; Haas O; Scarano G; Di Rocco M; Finelli P; Tenconi R; Selicorni A; Larizza L
Eur J Hum Genet; 2012 Jul; 20(7):734-41. PubMed ID: 22353942
[TBL] [Abstract][Full Text] [Related]
8. Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B.
Krantz ID; McCallum J; DeScipio C; Kaur M; Gillis LA; Yaeger D; Jukofsky L; Wasserman N; Bottani A; Morris CA; Nowaczyk MJ; Toriello H; Bamshad MJ; Carey JC; Rappaport E; Kawauchi S; Lander AD; Calof AL; Li HH; Devoto M; Jackson LG
Nat Genet; 2004 Jun; 36(6):631-5. PubMed ID: 15146186
[TBL] [Abstract][Full Text] [Related]
9. Exclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange syndrome.
Krantz ID; Tonkin E; Smith M; Devoto M; Bottani A; Simpson C; Hofreiter M; Abraham V; Jukofsky L; Conti BP; Strachan T; Jackson L
Am J Med Genet; 2001 Jun; 101(2):120-9. PubMed ID: 11391654
[TBL] [Abstract][Full Text] [Related]
10. Patients carrying 9q31.1-q32 deletion share common features with Cornelia de Lange Syndrome.
Cao R; Pu T; Fang S; Long F; Xie J; Xu Y; Chen S; Sun K; Xu R
Cell Physiol Biochem; 2015; 35(1):270-80. PubMed ID: 25591769
[TBL] [Abstract][Full Text] [Related]
11. Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL.
Ratajska M; Wierzba J; Pehlivan D; Xia Z; Brundage EK; Cheung SW; Stankiewicz P; Lupski JR; Limon J
Eur J Med Genet; 2010; 53(6):378-82. PubMed ID: 20727427
[TBL] [Abstract][Full Text] [Related]
12. Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange.
Yan J; Zhang F; Brundage E; Scheuerle A; Lanpher B; Erickson RP; Powis Z; Robinson HB; Trapane PL; Stachiw-Hietpas D; Keppler-Noreuil KM; Lalani SR; Sahoo T; Chinault AC; Patel A; Cheung SW; Lupski JR
J Med Genet; 2009 Sep; 46(9):626-34. PubMed ID: 19052029
[TBL] [Abstract][Full Text] [Related]
13. Search for genomic imbalances in a cohort of 24 Cornelia de Lange patients negative for mutations in the NIPBL and SMC1L1 genes.
Gervasini C; Pfundt R; Castronovo P; Russo S; Roversi G; Masciadri M; Milani D; Zampino G; Selicorni A; Schoenmakers EF; Larizza L
Clin Genet; 2008 Dec; 74(6):531-8. PubMed ID: 18798846
[TBL] [Abstract][Full Text] [Related]
14. A giant novel gene undergoing extensive alternative splicing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3.
Tonkin ET; Smith M; Eichhorn P; Jones S; Imamwerdi B; Lindsay S; Jackson M; Wang TJ; Ireland M; Burn J; Krantz ID; Carr P; Strachan T
Hum Genet; 2004 Jul; 115(2):139-48. PubMed ID: 15168106
[TBL] [Abstract][Full Text] [Related]
15. Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome.
Plesser Duvdevani M; Pettersson M; Eisfeldt J; Avraham O; Dagan J; Frumkin A; Lupski JR; Lindstrand A; Harel T
Am J Med Genet A; 2020 May; 182(5):1143-1151. PubMed ID: 32125084
[TBL] [Abstract][Full Text] [Related]
16. Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.
Ansari M; Poke G; Ferry Q; Williamson K; Aldridge R; Meynert AM; Bengani H; Chan CY; Kayserili H; Avci S; Hennekam RC; Lampe AK; Redeker E; Homfray T; Ross A; Falkenberg Smeland M; Mansour S; Parker MJ; Cook JA; Splitt M; Fisher RB; Fryer A; Magee AC; Wilkie A; Barnicoat A; Brady AF; Cooper NS; Mercer C; Deshpande C; Bennett CP; Pilz DT; Ruddy D; Cilliers D; Johnson DS; Josifova D; Rosser E; Thompson EM; Wakeling E; Kinning E; Stewart F; Flinter F; Girisha KM; Cox H; Firth HV; Kingston H; Wee JS; Hurst JA; Clayton-Smith J; Tolmie J; Vogt J; Tatton-Brown K; Chandler K; Prescott K; Wilson L; Behnam M; McEntagart M; Davidson R; Lynch SA; Sisodiya S; Mehta SG; McKee SA; Mohammed S; Holden S; Park SM; Holder SE; Harrison V; McConnell V; Lam WK; Green AJ; Donnai D; Bitner-Glindzicz M; Donnelly DE; Nellåker C; Taylor MS; FitzPatrick DR
J Med Genet; 2014 Oct; 51(10):659-68. PubMed ID: 25125236
[TBL] [Abstract][Full Text] [Related]
17. Large genomic rearrangements in NIPBL are infrequent in Cornelia de Lange syndrome.
Bhuiyan ZA; Stewart H; Redeker EJ; Mannens MM; Hennekam RC
Eur J Hum Genet; 2007 Apr; 15(4):505-8. PubMed ID: 17264868
[TBL] [Abstract][Full Text] [Related]
18. In-frame multi-exon deletion of SMC1A in a severely affected female with Cornelia de Lange Syndrome.
Hoppman-Chaney N; Jang JS; Jen J; Babovic-Vuksanovic D; Hodge JC
Am J Med Genet A; 2012 Jan; 158A(1):193-8. PubMed ID: 22106055
[TBL] [Abstract][Full Text] [Related]
19. Clinical and genetic analysis of Korean patients with Cornelia de Lange syndrome: two novel NIPBL mutations.
Park HD; Ki CS; Kim JW; Kim WT; Kim JK
Ann Clin Lab Sci; 2010; 40(1):20-5. PubMed ID: 20124326
[TBL] [Abstract][Full Text] [Related]
20. A report of 2 cases of Cornelia de Lange syndrome (CdLS) and an analysis of clinical and genetic characteristics in a Chinese CdLS cohort.
Li S; Miao H; Yang H; Wang L; Gong F; Chen S; Zhu H; Pan H
Mol Genet Genomic Med; 2020 Feb; 8(2):e1066. PubMed ID: 31872982
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
