184 related articles for article (PubMed ID: 11391654)
21. 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. PubMed ID: 23313159
[TBL] [Abstract][Full Text] [Related]
22. Subchromosomal band interval mapping and ordering of DNA markers in the region 3q26.3-q27 involved in the dup(3q) syndrome.
Rizzu P; Baldini A
Genomics; 1994 Dec; 24(3):580-2. PubMed ID: 7713511
[TBL] [Abstract][Full Text] [Related]
23. Localization of a novel locus for alopecia with mental retardation syndrome to chromosome 3q26.33-q27.3.
John P; Ali G; Chishti MS; Naqvi SM; Leal SM; Ahmad W
Hum Genet; 2006 Jan; 118(5):665-7. PubMed ID: 16273389
[TBL] [Abstract][Full Text] [Related]
24. [Preliminary linkage analysis of a Chinese family with benign familial infantile convulsion].
Xiong G; Deng FY; Xiao B; Yang XS; Ning JC; Wu ZG; Wang K; Deng HW
Zhonghua Er Ke Za Zhi; 2004 Jun; 42(6):424-8. PubMed ID: 15265426
[TBL] [Abstract][Full Text] [Related]
25. A novel locus for alopecia with mental retardation syndrome (APMR2) maps to chromosome 3q26.2-q26.31.
Wali A; John P; Gul A; Lee K; Chishti MS; Ali G; Hassan MJ; Leal SM; Ahmad W
Clin Genet; 2006 Sep; 70(3):233-9. PubMed ID: 16922726
[TBL] [Abstract][Full Text] [Related]
26. 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]
27. [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. PubMed ID: 23158739
[TBL] [Abstract][Full Text] [Related]
28. 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. PubMed ID: 16604071
[TBL] [Abstract][Full Text] [Related]
29. 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; 146A(12):1565-70. PubMed ID: 18470924
[TBL] [Abstract][Full Text] [Related]
30. Cornelia de Lange syndrome.
Liu J; Baynam G
Adv Exp Med Biol; 2010; 685():111-23. PubMed ID: 20687500
[TBL] [Abstract][Full Text] [Related]
31. Fortuitous detection of a submicroscopic deletion at 1q25 in a girl with Cornelia-de Lange syndrome carrying t(5;13)(p13.1;q12.1) by array-based comparative genomic hybridization.
Hayashi S; Ono M; Makita Y; Imoto I; Mizutani S; Inazawa J
Am J Med Genet A; 2007 Jun; 143A(11):1191-7. PubMed ID: 17497725
[TBL] [Abstract][Full Text] [Related]
32. Cornelia de Lange syndrome: a case study.
Kalal GI; Raina VP; Nayak VS; Teotia P; Gupta BV
Genet Test Mol Biomarkers; 2009 Feb; 13(1):15-8. PubMed ID: 19309268
[TBL] [Abstract][Full Text] [Related]
33. Autosomal linkage analysis of a Japanese single multiplex schizophrenia pedigree reveals two candidate loci on chromosomes 4q and 3q.
Kaneko N; Muratake T; Kuwabara H; Kurosaki T; Takei M; Ohtsuki T; Arinami T; Tsuji S; Someya T
Am J Med Genet B Neuropsychiatr Genet; 2007 Sep; 144B(6):735-42. PubMed ID: 17671967
[TBL] [Abstract][Full Text] [Related]
34. [Systemic and ophthalmological findings in Cornelia de Lange syndrome].
Mrugacz M; Sielicka D
Klin Oczna; 2012; 114(1):68-70. PubMed ID: 22783750
[TBL] [Abstract][Full Text] [Related]
35. Partial trisomy 3q causing mild Cornelia de Lange phenotype.
Holder SE; Grimsley LM; Palmer RW; Butler LJ; Baraitser M
J Med Genet; 1994 Feb; 31(2):150-2. PubMed ID: 8182724
[TBL] [Abstract][Full Text] [Related]
36. Linkage analysis and exclusion of regions of chromosomes 3 and 8 in Gilles de la Tourette syndrome following the identification of a balanced reciprocal translocation 46 XY, t(3:8)(p21.3 q24.1) in a case of Tourette syndrome.
Brett PM; Curtis D; Robertson MM; Dahlitz M; Gurling HM
Psychiatr Genet; 1996; 6(3):99-105. PubMed ID: 8902885
[TBL] [Abstract][Full Text] [Related]
37. Search for genomic imbalances in a cohort of 24 Cornelia de Lange patients negative for mutations in the NIPBL and SMC1L1 genes.
Gervasini C; Pfundt R; Castronovo P; Russo S; Roversi G; Masciadri M; Milani D; Zampino G; Selicorni A; Schoenmakers EF; Larizza L
Clin Genet; 2008 Dec; 74(6):531-8. PubMed ID: 18798846
[TBL] [Abstract][Full Text] [Related]
38. 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]
39. Somatic mosaicism in Cornelia de Lange syndrome: a further contributor to the wide clinical expressivity?
Castronovo P; Delahaye-Duriez A; Gervasini C; Azzollini J; Minier F; Russo S; Masciadri M; Selicorni A; Verloes A; Larizza L
Clin Genet; 2010 Dec; 78(6):560-4. PubMed ID: 20331678
[TBL] [Abstract][Full Text] [Related]
40. 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. PubMed ID: 16799922
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
