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1.

Cornelia de Lange syndrome.

Noor N, Kazmi Z, Mehnaz A.

J Coll Physicians Surg Pak. 2012 Jun;22(6):412-3. doi: 06.2012/JCPSP.412413.

PMID:
22630109
2.

A newborn with Cornelia de Lange syndrome: a case report.

Uzun H, Senses DA, Uluba M, Kocabay K.

Cases J. 2008 Nov 19;1(1):329. doi: 10.1186/1757-1626-1-329.

3.

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.

4.

[Cornelia de Lange syndrome: report of a case and the review of literature on 17 cases].

Hei MY, Chen J, Wu LQ, Yu B, Tan YJ, Zhao LL.

Zhonghua Er Ke Za Zhi. 2012 Aug;50(8):606-11. Review. Chinese.

PMID:
23158739
5.

Cornelia de lange syndrome.

Tayebi N.

Indian J Hum Genet. 2008 Jan;14(1):23-6. doi: 10.4103/0971-6866.42324.

6.

Cornelia de Lange syndrome: a case study.

Benson M.

Neonatal Netw. 2002 Apr;21(3):7-13.

PMID:
12943206
7.

Brachmann-de Lange syndrome. Delineation of the clinical phenotype.

Ireland M, Donnai D, Burn J.

Am J Med Genet. 1993 Nov 15;47(7):959-64.

PMID:
8291539
8.

An atypical facial appearance and growth pattern in a child with Cornelia de Lange Syndrome: an intragenic deletion predicting loss of the N-terminal region of NIPBL.

Murray JE, Walayat M, Gillett P, Sharkey FH, Rajan D, Carter NP, FitzPatrick DR.

Clin Dysmorphol. 2012 Jan;21(1):22-3. doi: 10.1097/MCD.0b013e32834c4afc.

PMID:
21934607
9.
10.

De Lange syndrome: subjective and objective comparison of the classical and mild phenotypes.

Allanson JE, Hennekam RC, Ireland M.

J Med Genet. 1997 Aug;34(8):645-50.

11.

[Ophthalmologic findings in child in the Cornelia de Lange syndrome].

Sielicka D, Mrugacz M, Bakunowicz-Łazarczyk A, Sredzińska-Kita D.

Klin Oczna. 2009;111(10-12):348-9. Polish.

PMID:
20169894
12.

Cornelia de-lange syndrome: a case report.

Mehta DN, Bhatia R.

Int J Clin Pediatr Dent. 2013 May;6(2):115-8. doi: 10.5005/jp-journals-10005-1201. Epub 2013 Aug 26.

13.

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.

14.

Coats' disease, megalopapilla and Cornelia de Lange syndrome.

Barakat MR, Traboulsi EI, Sears JE.

Ophthalmic Genet. 2009 Jun;30(2):106-8. doi: 10.1080/13816810902744613.

PMID:
19373684
15.

Cornelia de Lange Syndrome in association with a balanced reciprocal translocation involving chromosomes 3 and 5.

Price N, Bahra M, Griffin D, Hanna G, Stock A.

Prenat Diagn. 2005 Jul;25(7):602-3.

PMID:
16032773
16.

A Malay boy with the Cornelia de Lange syndrome: clinical and molecular findings.

Bhuiyan ZA, Zilfalil BA, Hennekam RC.

Singapore Med J. 2006 Aug;47(8):724-7.

17.

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
18.

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
19.

Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations.

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

Hum Mutat. 2007 Feb;28(2):205-6.

PMID:
17221863
20.

Interdisciplinary therapy in Cornelia de Lange syndrome - review of the literature.

Mikołajewska E.

Adv Clin Exp Med. 2013 Jul-Aug;22(4):571-7. Review.

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