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Results: 1 to 20 of 181

1.

Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case.

Minor A, Shinawi M, Hogue JS, Vineyard M, Hamlin DR, Tan C, Donato K, Wysinger L, Botes S, Das S, Del Gaudio D.

Gene. 2014 Mar 10;537(2):279-84. doi: 10.1016/j.gene.2013.12.045. Epub 2013 Dec 27.

PMID:
24378232
[PubMed - indexed for MEDLINE]
2.

Two novel NIPBL gene mutations in Chinese patients with Cornelia de Lange syndrome.

Mei L, Liang D, Huang Y, Pan Q, Wu L.

Gene. 2015 Jan 25;555(2):476-80. doi: 10.1016/j.gene.2014.11.033. Epub 2014 Nov 18.

PMID:
25447906
[PubMed - indexed for MEDLINE]
3.

Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome.

Mannini L, Cucco F, Quarantotti V, Krantz ID, Musio A.

Hum Mutat. 2013 Dec;34(12):1589-96. doi: 10.1002/humu.22430. Epub 2013 Sep 16. Review.

PMID:
24038889
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

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.

PMID:
22353942
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

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. doi: 10.1002/ajmg.a.34360. Epub 2011 Nov 21.

PMID:
22106055
[PubMed - indexed for MEDLINE]
6.

RAD21 mutations cause a human cohesinopathy.

Deardorff MA, Wilde JJ, Albrecht M, Dickinson E, Tennstedt S, Braunholz D, Mönnich M, Yan Y, Xu W, Gil-Rodríguez MC, Clark D, Hakonarson H, Halbach S, Michelis LD, Rampuria A, Rossier E, Spranger S, Van Maldergem L, Lynch SA, Gillessen-Kaesbach G, Lüdecke HJ, Ramsay RG, McKay MJ, Krantz ID, Xu H, Horsfield JA, Kaiser FJ.

Am J Hum Genet. 2012 Jun 8;90(6):1014-27. doi: 10.1016/j.ajhg.2012.04.019. Epub 2012 May 24.

PMID:
22633399
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

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. doi: 10.1016/j.ejmg.2012.12.009. Epub 2013 Jan 8.

PMID:
23313159
[PubMed - indexed for MEDLINE]
8.

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.

PMID:
17106445
[PubMed - indexed for MEDLINE]
Free Article
9.

Functional characterization of NIPBL physiological splice variants and eight splicing mutations in patients with Cornelia de Lange syndrome.

Teresa-Rodrigo ME, Eckhold J, Puisac B, Dalski A, Gil-Rodríguez MC, Braunholz D, Baquero C, Hernández-Marcos M, de Karam JC, Ciero M, Santos-Simarro F, Lapunzina P, Wierzba J, Casale CH, Ramos FJ, Gillessen-Kaesbach G, Kaiser FJ, Pié J.

Int J Mol Sci. 2014 Jun 10;15(6):10350-64. doi: 10.3390/ijms150610350.

PMID:
24918291
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

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 7;13:43.

PMID:
22676896
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

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 3;14:41. doi: 10.1186/1471-2350-14-41.

PMID:
23551878
[PubMed - indexed for MEDLINE]
Free PMC Article
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. doi: 10.1038/gim.2011.13. Epub 2012 Jan 5.

PMID:
22241092
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

Kaiser FJ, Ansari M, Braunholz D, Concepción Gil-Rodríguez M, Decroos C, Wilde JJ, Fincher CT, Kaur M, Bando M, Amor DJ, Atwal PS, Bahlo M, Bowman CM, Bradley JJ, Brunner HG, Clark D, Del Campo M, Di Donato N, Diakumis P, Dubbs H, Dyment DA, Eckhold J, Ernst S, Ferreira JC, Francey LJ, Gehlken U, Guillén-Navarro E, Gyftodimou Y, Hall BD, Hennekam R, Hudgins L, Hullings M, Hunter JM, Yntema H, Innes AM, Kline AD, Krumina Z, Lee H, Leppig K, Lynch SA, Mallozzi MB, Mannini L, McKee S, Mehta SG, Micule I; Care4Rare Canada Consortium, Mohammed S, Moran E, Mortier GR, Moser JA, Noon SE, Nozaki N, Nunes L, Pappas JG, Penney LS, Pérez-Aytés A, Petersen MB, Puisac B, Revencu N, Roeder E, Saitta S, Scheuerle AE, Schindeler KL, Siu VM, Stark Z, Strom SP, Thiese H, Vater I, Willems P, Williamson K, Wilson LC; University of Washington Center for Mendelian Genomics, Hakonarson H, Quintero-Rivera F, Wierzba J, Musio A, Gillessen-Kaesbach G, Ramos FJ, Jackson LG, Shirahige K, Pié J, Christianson DW, Krantz ID, Fitzpatrick DR, Deardorff MA.

Hum Mol Genet. 2014 Jun 1;23(11):2888-900. doi: 10.1093/hmg/ddu002. Epub 2014 Jan 8.

PMID:
24403048
[PubMed - indexed for MEDLINE]
14.

Identification of a novel de novo mutation in the NIPBL gene in an Iranian patient with Cornelia de Lange syndrome: A case report.

Galehdari H, Monajemzadeh R, Nazem H, Mohamadian G, Pedram M.

J Med Case Rep. 2011 Jun 27;5:242. doi: 10.1186/1752-1947-5-242.

PMID:
21707975
[PubMed]
Free PMC Article
15.

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
[PubMed - indexed for MEDLINE]
16.

Germline mosaicism in Cornelia de Lange syndrome.

Slavin TP, Lazebnik N, Clark DM, Vengoechea J, Cohen L, Kaur M, Konczal L, Crowe CA, Corteville JE, Nowaczyk MJ, Byrne JL, Jackson LG, Krantz ID.

Am J Med Genet A. 2012 Jun;158A(6):1481-5. doi: 10.1002/ajmg.a.35381. Epub 2012 May 11.

PMID:
22581668
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Mutational and genotype-phenotype correlation analyses in 28 Polish patients with Cornelia de Lange syndrome.

Yan J, Saifi GM, Wierzba TH, Withers M, Bien-Willner GA, Limon J, Stankiewicz P, Lupski JR, Wierzba J.

Am J Med Genet A. 2006 Jul 15;140(14):1531-41.

PMID:
16770807
[PubMed - indexed for MEDLINE]
18.

Deletion of 8p23.1 with features of Cornelia de Lange syndrome and congenital diaphragmatic hernia and a review of deletions of 8p23.1 to 8pter? A further locus for Cornelia de Lange syndrome.

Baynam G, Goldblatt J, Walpole I.

Am J Med Genet A. 2008 Jun 15;146A(12):1565-70. doi: 10.1002/ajmg.a.32095. Review.

PMID:
18470924
[PubMed - indexed for MEDLINE]
19.

Father-to-daughter transmission of Cornelia de Lange syndrome caused by a mutation in the 5' untranslated region of the NIPBL Gene.

Borck G, Zarhrate M, Cluzeau C, Bal E, Bonnefont JP, Munnich A, Cormier-Daire V, Colleaux L.

Hum Mutat. 2006 Aug;27(8):731-5.

PMID:
16799922
[PubMed - indexed for MEDLINE]
20.

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.

Musio A, Selicorni A, Focarelli ML, Gervasini C, Milani D, Russo S, Vezzoni P, Larizza L.

Nat Genet. 2006 May;38(5):528-30. Epub 2006 Apr 9.

PMID:
16604071
[PubMed - indexed for MEDLINE]
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