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Items: 1 to 20 of 746

1.

Cornelia de lange syndrome: a recognizable fetal phenotype.

Wilmink FA, Papatsonis DN, Grijseels EW, Wessels MW.

Fetal Diagn Ther. 2009;26(1):50-3. doi: 10.1159/000236361. Epub 2009 Oct 10.

PMID:
19816032
2.

Prenatal/neonatal pathology in two cases of Cornelia de Lange syndrome harboring novel mutations of NIPBL.

Lalatta F, Russo S, Gentilin B, Spaccini L, Boschetto C, Cavalleri F, Masciadri M, Gervasini C, Bentivegna A, Castronovo P, Larizza L.

Genet Med. 2007 Mar;9(3):188-94.

PMID:
17413424
3.

Abnormal first-trimester fetal nuchal translucency and Cornelia De Lange syndrome.

Huang WH, Porto M.

Obstet Gynecol. 2002 May;99(5 Pt 2):956-8.

PMID:
11975974
4.

Prenatal findings in Brachmann-de Lange syndrome.

Bruner JP, Hsia YE.

Obstet Gynecol. 1990 Nov;76(5 Pt 2):966-8.

PMID:
1699187
5.

Fetal diaphragmatic hernia and upper limb anomalies suggest Brachmann-de Lange syndrome.

Marino T, Wheeler PG, Simpson LL, Craigo SD, Bianchi DW.

Prenat Diagn. 2002 Feb;22(2):144-7.

PMID:
11857622
6.

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
7.

A case of third trimester diagnosis of Cornelia de Lange syndrome.

Kanellopoulos V, Iavazzo C, Tzanatou C, Papadakis E, Tassis K.

Arch Gynecol Obstet. 2011 Jan;283(1):59-63. doi: 10.1007/s00404-009-1279-6. Epub 2009 Nov 12.

PMID:
19908052
8.

Ultrasound detection of eyelashes: a clue for prenatal diagnosis of Cornelia de Lange syndrome.

Spaggiari E, Vuillard E, Khung-Savatovsky S, Muller F, Oury JF, Delezoide AL, Guimiot F.

Ultrasound Obstet Gynecol. 2013 Mar;41(3):341-2. doi: 10.1002/uog.12285. No abstract available.

9.

Cornelia de Lange syndrome (CdLS): prenatal and autopsy findings.

Chong K, Keating S, Hurst S, Summers A, Berger H, Seaward G, Martin N, Friedberg T, Chitayat D.

Prenat Diagn. 2009 May;29(5):489-94. doi: 10.1002/pd.2228.

PMID:
19242925
10.

Fetal biometry in the Brachmann-de Lange syndrome.

Kliewer MA, Kahler SG, Hertzberg BS, Bowie JD.

Am J Med Genet. 1993 Nov 15;47(7):1035-41.

PMID:
8291520
11.

Brachmann-de Lange syndrome: definition of prenatal sonographic features to facilitate definitive prenatal diagnosis.

Pajkrt E, Griffin DR, Chitty LS.

Prenat Diagn. 2010 Sep;30(9):865-72. doi: 10.1002/pd.2577.

PMID:
20665529
12.

Cornelia de Lange syndrome: antenatal diagnosis in two consecutive pregnancies due to rare gonadal mosaicism of NIPBL gene mutation.

Weichert J, Schröer A, Beyer DA, Gillessen-Kaesbach G, Stefanova I.

J Matern Fetal Neonatal Med. 2011 Jul;24(7):978-82. doi: 10.3109/14767058.2010.531312. Epub 2011 Feb 22.

PMID:
21338332
13.

Prenatal diagnosis of congenital diaphragmatic hernia not amenable to prenatal or neonatal repair: Brachmann-de Lange syndrome.

Jelsema RD, Isada NB, Kazzi NJ, Sargent K, Harrison MR, Johnson MP, Evans MI.

Am J Med Genet. 1993 Nov 15;47(7):1022-3.

PMID:
8291516
14.
15.

Brachmann-de Lange syndrome with congenital diaphragmatic hernia and NIPBL gene mutation.

Hosokawa S, Takahashi N, Kitajima H, Nakayama M, Kosaki K, Okamoto N.

Congenit Anom (Kyoto). 2010 Jun;50(2):129-32. doi: 10.1111/j.1741-4520.2010.00270.x. Epub 2010 Feb 11.

PMID:
20156239
16.

Prenatal findings in Brachmann-de Lange syndrome.

Sekimoto H, Osada H, Kimura H, Kamiyama M, Arai K, Sekiya S.

Arch Gynecol Obstet. 2000 Apr;263(4):182-4.

PMID:
10834327
17.

Brachmann-de Lange syndrome: pre- and postnatal findings.

Manouvrier S, Espinasse M, Vaast P, Boute O, Farre I, Dupont F, Puech F, Gosselin B, Farriaux JP.

Am J Med Genet. 1996 Mar 29;62(3):268-73.

PMID:
8882785
18.

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.

19.

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
20.

Case of the day. Brachman-De Lange syndrome.

Golsby LM, McNamara MF, Anderson CF, Quinn DL, Reed KL.

J Ultrasound Med. 1995 Apr;14(4):325-6. No abstract available.

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