244 related articles for article (PubMed ID: 16100726)
1. Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome.
Kaur M; DeScipio C; McCallum J; Yaeger D; Devoto M; Jackson LG; Spinner NB; Krantz ID
Am J Med Genet A; 2005 Sep; 138(1):27-31. PubMed ID: 16100726
[TBL] [Abstract][Full Text] [Related]
2. NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations.
Gillis LA; McCallum J; Kaur M; DeScipio C; Yaeger D; Mariani A; Kline AD; Li HH; Devoto M; Jackson LG; Krantz ID
Am J Hum Genet; 2004 Oct; 75(4):610-23. PubMed ID: 15318302
[TBL] [Abstract][Full Text] [Related]
3. NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome.
Tonkin ET; Wang TJ; Lisgo S; Bamshad MJ; Strachan T
Nat Genet; 2004 Jun; 36(6):636-41. PubMed ID: 15146185
[TBL] [Abstract][Full Text] [Related]
4. The effect of Nipped-B-like (Nipbl) haploinsufficiency on genome-wide cohesin binding and target gene expression: modeling Cornelia de Lange syndrome.
Newkirk DA; Chen YY; Chien R; Zeng W; Biesinger J; Flowers E; Kawauchi S; Santos R; Calof AL; Lander AD; Xie X; Yokomori K
Clin Epigenetics; 2017; 9():89. PubMed ID: 28855971
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Functional links between Drosophila Nipped-B and cohesin in somatic and meiotic cells.
Gause M; Webber HA; Misulovin Z; Haller G; Rollins RA; Eissenberg JC; Bickel SE; Dorsett D
Chromosoma; 2008 Feb; 117(1):51-66. PubMed ID: 17909832
[TBL] [Abstract][Full Text] [Related]
7. Drosophila Nipped-B Mutants Model Cornelia de Lange Syndrome in Growth and Behavior.
Wu Y; Gause M; Xu D; Misulovin Z; Schaaf CA; Mosarla RC; Mannino E; Shannon M; Jones E; Shi M; Chen WF; Katz OL; Sehgal A; Jongens TA; Krantz ID; Dorsett D
PLoS Genet; 2015 Nov; 11(11):e1005655. PubMed ID: 26544867
[TBL] [Abstract][Full Text] [Related]
8. Cornelia de Lange Syndrome and the link between chromosomal function, DNA repair and developmental gene regulation.
Strachan T
Curr Opin Genet Dev; 2005 Jun; 15(3):258-64. PubMed ID: 15917200
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. NIPBL expression levels in CdLS probands as a predictor of mutation type and phenotypic severity.
Kaur M; Mehta D; Noon SE; Deardorff MA; Zhang Z; Krantz ID
Am J Med Genet C Semin Med Genet; 2016 Jun; 172(2):163-70. PubMed ID: 27125329
[TBL] [Abstract][Full Text] [Related]
11. Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction.
Braunholz D; Hullings M; Gil-Rodríguez MC; Fincher CT; Mallozzi MB; Loy E; Albrecht M; Kaur M; Limon J; Rampuria A; Clark D; Kline A; Dalski A; Eckhold J; Tzschach A; Hennekam R; Gillessen-Kaesbach G; Wierzba J; Krantz ID; Deardorff MA; Kaiser FJ
Eur J Hum Genet; 2012 Mar; 20(3):271-6. PubMed ID: 21934712
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Premature chromatid separation is not a useful diagnostic marker for Cornelia de Lange syndrome.
Castronovo P; Gervasini C; Cereda A; Masciadri M; Milani D; Russo S; Selicorni A; Larizza L
Chromosome Res; 2009; 17(6):763-71. PubMed ID: 19690971
[TBL] [Abstract][Full Text] [Related]
14. Cornelia de Lange syndrome with NIPBL mutation and mosaic Turner syndrome in the same individual.
Wierzba J; Gil-Rodríguez MC; Polucha A; Puisac B; Arnedo M; Teresa-Rodrigo ME; Winnicka D; Hegardt FG; Ramos FJ; Limon J; Pié J
BMC Med Genet; 2012 Jun; 13():43. PubMed ID: 22676896
[TBL] [Abstract][Full Text] [Related]
15. Regional chromatin decompaction in Cornelia de Lange syndrome associated with NIPBL disruption can be uncoupled from cohesin and CTCF.
Nolen LD; Boyle S; Ansari M; Pritchard E; Bickmore WA
Hum Mol Genet; 2013 Oct; 22(20):4180-93. PubMed ID: 23760082
[TBL] [Abstract][Full Text] [Related]
16. Increased DNA damage sensitivity of Cornelia de Lange syndrome cells: evidence for impaired recombinational repair.
Vrouwe MG; Elghalbzouri-Maghrani E; Meijers M; Schouten P; Godthelp BC; Bhuiyan ZA; Redeker EJ; Mannens MM; Mullenders LH; Pastink A; Darroudi F
Hum Mol Genet; 2007 Jun; 16(12):1478-87. PubMed ID: 17468178
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation.
Baquero-Montoya C; Gil-Rodríguez MC; Hernández-Marcos M; Teresa-Rodrigo ME; Vicente-Gabas A; Bernal ML; Casale CH; Bueno-Lozano G; Bueno-Martínez I; Queralt E; Villa O; Hernando-Davalillo C; Armengol L; Gómez-Puertas P; Puisac B; Selicorni A; Ramos FJ; Pié J
Eur J Med Genet; 2014 Sep; 57(9):503-9. PubMed ID: 24874887
[TBL] [Abstract][Full Text] [Related]
19. Multiple organ system defects and transcriptional dysregulation in the Nipbl(+/-) mouse, a model of Cornelia de Lange Syndrome.
Kawauchi S; Calof AL; Santos R; Lopez-Burks ME; Young CM; Hoang MP; Chua A; Lao T; Lechner MS; Daniel JA; Nussenzweig A; Kitzes L; Yokomori K; Hallgrimsson B; Lander AD
PLoS Genet; 2009 Sep; 5(9):e1000650. PubMed ID: 19763162
[TBL] [Abstract][Full Text] [Related]
20. Cornelia de Lange Syndrome with NIPBL gene mutation: a case report.
Park KH; Lee ST; Ki CS; Byun SY
J Korean Med Sci; 2010 Dec; 25(12):1821-3. PubMed ID: 21165303
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
