PubMed (OMIM) for id: 1645760

Year	Number of Results
1963	2
1965	1
1966	2
1967	2
1968	1
1969	1
1970	1
1971	2
1975	1
1976	3
1978	1
1979	1
1981	5
1982	2
1983	3
1985	7
1986	3
1987	4
1989	3
1990	5
1991	2
1992	3
1993	22
1994	4
1995	1
1996	3
1997	1
1999	1
2001	3
2003	1
2004	5
2024	0

1

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. Gillis LA, et al. Am J Hum Genet. 2004 Oct;75(4):610-23. doi: 10.1086/424698. Epub 2004 Aug 18. Am J Hum Genet. 2004. PMID: 15318302 Free PMC article.

2

A giant novel gene undergoing extensive alternative splicing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3.

Tonkin ET, Smith M, Eichhorn P, Jones S, Imamwerdi B, Lindsay S, Jackson M, Wang TJ, Ireland M, Burn J, Krantz ID, Carr P, Strachan T. Tonkin ET, et al. Hum Genet. 2004 Jul;115(2):139-48. doi: 10.1007/s00439-004-1134-6. Epub 2004 May 27. Hum Genet. 2004. PMID: 15168106 Free PMC article.

3

Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B.

Krantz ID, McCallum J, DeScipio C, Kaur M, Gillis LA, Yaeger D, Jukofsky L, Wasserman N, Bottani A, Morris CA, Nowaczyk MJ, Toriello H, Bamshad MJ, Carey JC, Rappaport E, Kawauchi S, Lander AD, Calof AL, Li HH, Devoto M, Jackson LG. Krantz ID, et al. Nat Genet. 2004 Jun;36(6):631-5. doi: 10.1038/ng1364. Epub 2004 May 16. Nat Genet. 2004. PMID: 15146186 Free PMC article.

4

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. Tonkin ET, et al. Nat Genet. 2004 Jun;36(6):636-41. doi: 10.1038/ng1363. Epub 2004 May 16. Nat Genet. 2004. PMID: 15146185

5

Drosophila nipped-B protein supports sister chromatid cohesion and opposes the stromalin/Scc3 cohesion factor to facilitate long-range activation of the cut gene.

Rollins RA, Korom M, Aulner N, Martens A, Dorsett D. Rollins RA, et al. Mol Cell Biol. 2004 Apr;24(8):3100-11. doi: 10.1128/MCB.24.8.3100-3111.2004. Mol Cell Biol. 2004. PMID: 15060134 Free PMC article.

6

An Irish three-generation family of Cornelia de Lange syndrome displaying autosomal dominant inheritance.

McConnell V, Brown T, Morrison PJ. McConnell V, et al. Clin Dysmorphol. 2003 Oct;12(4):241-4. doi: 10.1097/00019605-200310000-00006. Clin Dysmorphol. 2003. PMID: 14564211

7

THE CORNELIA DE LANGE SYNDROME.

PTACEK LJ, OPITZ JM, SMITH DW, GERRITSEN T, WAISMAN HA. PTACEK LJ, et al. J Pediatr. 1963 Nov;63:1000-20. doi: 10.1016/s0022-3476(63)80234-6. J Pediatr. 1963. PMID: 14071035 No abstract available.

8

TYPUS DEGENERATIVUS AMSTELODAMENSIS.

SCHLESINGER B, CLAYTON B, BODIAN M, JONES KV. SCHLESINGER B, et al. Arch Dis Child. 1963 Aug;38(200):349-57. doi: 10.1136/adc.38.200.349. Arch Dis Child. 1963. PMID: 14058809 Free PMC article. No abstract available.

9

Dominant paternal transmission of Cornelia de Lange syndrome: a new case and review of 25 previously reported familial recurrences.

Russell KL, Ming JE, Patel K, Jukofsky L, Magnusson M, Krantz ID. Russell KL, et al. Am J Med Genet. 2001 Dec 15;104(4):267-76. doi: 10.1002/ajmg.10066. Am J Med Genet. 2001. PMID: 11754058 Free PMC article. Review.

10

Ultrasonographic and clinical appearance of a 22-week-old fetus with Brachmann-de Lange syndrome.

Urban M, Hartung J. Urban M, et al. Am J Med Genet. 2001 Jul 22;102(1):73-5. doi: 10.1002/1096-8628(20010722)102:1<73::aid-ajmg1419>3.0.co;2-h. Am J Med Genet. 2001. PMID: 11471176

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