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Items: 1 to 20 of 118

1.

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. doi: 10.1371/journal.pgen.1000650. Epub 2009 Sep 18.

2.

Multifactorial origins of heart and gut defects in nipbl-deficient zebrafish, a model of Cornelia de Lange Syndrome.

Muto A, Calof AL, Lander AD, Schilling TF.

PLoS Biol. 2011 Oct;9(10):e1001181. doi: 10.1371/journal.pbio.1001181. Epub 2011 Oct 25.

3.

Reduction of Nipbl impairs cohesin loading locally and affects transcription but not cohesion-dependent functions in a mouse model of Cornelia de Lange Syndrome.

Remeseiro S, Cuadrado A, Kawauchi S, Calof AL, Lander AD, Losada A.

Biochim Biophys Acta. 2013 Dec;1832(12):2097-102. doi: 10.1016/j.bbadis.2013.07.020. Epub 2013 Aug 3.

4.

A cohesin-independent role for NIPBL at promoters provides insights in CdLS.

Zuin J, Franke V, van Ijcken WF, van der Sloot A, Krantz ID, van der Reijden MI, Nakato R, Lenhard B, Wendt KS.

PLoS Genet. 2014 Feb 13;10(2):e1004153. doi: 10.1371/journal.pgen.1004153. eCollection 2014 Feb.

5.

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 15;22(20):4180-93. doi: 10.1093/hmg/ddt265. Epub 2013 Jun 10.

6.

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 6;11(11):e1005655. doi: 10.1371/journal.pgen.1005655. eCollection 2015 Nov.

7.

Mice lacking sister chromatid cohesion protein PDS5B exhibit developmental abnormalities reminiscent of Cornelia de Lange syndrome.

Zhang B, Jain S, Song H, Fu M, Heuckeroth RO, Erlich JM, Jay PY, Milbrandt J.

Development. 2007 Sep;134(17):3191-201. Epub 2007 Jul 25.

8.

De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.

Gil-Rodríguez MC, Deardorff MA, Ansari M, Tan CA, Parenti I, Baquero-Montoya C, Ousager LB, Puisac B, Hernández-Marcos M, Teresa-Rodrigo ME, Marcos-Alcalde I, Wesselink JJ, Lusa-Bernal S, Bijlsma EK, Braunholz D, Bueno-Martinez I, Clark D, Cooper NS, Curry CJ, Fisher R, Fryer A, Ganesh J, Gervasini C, Gillessen-Kaesbach G, Guo Y, Hakonarson H, Hopkin RJ, Kaur M, Keating BJ, Kibaek M, Kinning E, Kleefstra T, Kline AD, Kuchinskaya E, Larizza L, Li YR, Liu X, Mariani M, Picker JD, Pié Á, Pozojevic J, Queralt E, Richer J, Roeder E, Sinha A, Scott RH, So J, Wusik KA, Wilson L, Zhang J, Gómez-Puertas P, Casale CH, Ström L, Selicorni A, Ramos FJ, Jackson LG, Krantz ID, Das S, Hennekam RC, Kaiser FJ, FitzPatrick DR, Pié J.

Hum Mutat. 2015 Apr;36(4):454-62. doi: 10.1002/humu.22761. Epub 2015 Mar 17.

PMID:
25655089
9.

Using mouse and zebrafish models to understand the etiology of developmental defects in Cornelia de Lange Syndrome.

Kawauchi S, Santos R, Muto A, Lopez-Burks ME, Schilling TF, Lander AD, Calof AL.

Am J Med Genet C Semin Med Genet. 2016 Jun;172(2):138-45. doi: 10.1002/ajmg.c.31484. Epub 2016 Apr 27.

10.

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 15;138(1):27-31.

11.

Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome.

Kuzniacka A, Wierzba J, Ratajska M, Lipska BS, Koczkowska M, Malinowska M, Limon J.

J Appl Genet. 2013 Feb;54(1):27-33. doi: 10.1007/s13353-012-0126-9. Epub 2012 Dec 20. Erratum in: J Appl Genet. 2013 May;54(2):249.

12.

Cornelia de Lange syndrome.

Liu J, Baynam G.

Adv Exp Med Biol. 2010;685:111-23. Review.

PMID:
20687500
13.

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. doi: 10.1016/j.ejmg.2014.05.006. Epub 2014 May 27.

PMID:
24874887
14.

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 Winter;40(1):20-5.

PMID:
20124326
15.

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. doi: 10.1038/ejhg.2012.7. Epub 2012 Feb 22.

16.

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. Epub 2004 May 16.

PMID:
15146185
17.

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. doi: 10.3346/jkms.2010.25.12.1821. Epub 2010 Nov 24.

18.

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. Epub 2006 Nov 15.

19.

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. Epub 2004 Aug 18.

20.

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. doi: 10.1038/gim.2011.13. Epub 2012 Jan 5.

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