Similar articles for PMID: 16770807

Year	Number of Results
1999	1
2004	3
2005	4
2006	7
2007	7
2008	6
2009	7
2010	9
2011	7
2012	13
2013	10
2014	14
2015	9
2016	10
2017	7
2018	9
2019	10
2020	11
2021	6
2022	2
2024	0

1

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. Yan J, et al. Am J Med Genet A. 2006 Jul 15;140(14):1531-41. doi: 10.1002/ajmg.a.31305. Am J Med Genet A. 2006. PMID: 16770807

2

Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome.

Kuzniacka A, Wierzba J, Ratajska M, Lipska BS, Koczkowska M, Malinowska M, Limon J. Kuzniacka A, et al. J Appl Genet. 2013 Feb;54(1):27-33. doi: 10.1007/s13353-012-0126-9. Epub 2012 Dec 20. J Appl Genet. 2013. PMID: 23254390 Free PMC article.

3

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.

4

Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation.

Baquero-Montoya C, Gil-Rodríguez MC, Hernández-Marcos M, Teresa-Rodrigo ME, Vicente-Gabas A, Bernal ML, Casale CH, Bueno-Lozano G, Bueno-Martínez I, Queralt E, Villa O, Hernando-Davalillo C, Armengol L, Gómez-Puertas P, Puisac B, Selicorni A, Ramos FJ, Pié J. Baquero-Montoya C, et al. Eur J Med Genet. 2014 Sep;57(9):503-9. doi: 10.1016/j.ejmg.2014.05.006. Epub 2014 May 27. Eur J Med Genet. 2014. PMID: 24874887

5

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. Borck G, et al. Hum Mutat. 2007 Feb;28(2):205-6. doi: 10.1002/humu.9478. Hum Mutat. 2007. PMID: 17221863

6

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

Mei L, Liang D, Huang Y, Pan Q, Wu L. Mei L, et al. Gene. 2015 Jan 25;555(2):476-80. doi: 10.1016/j.gene.2014.11.033. Epub 2014 Nov 18. Gene. 2015. PMID: 25447906

7

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. Park HD, et al. Ann Clin Lab Sci. 2010 Winter;40(1):20-5. Ann Clin Lab Sci. 2010. PMID: 20124326

8

Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation.

Selicorni A, Russo S, Gervasini C, Castronovo P, Milani D, Cavalleri F, Bentivegna A, Masciadri M, Domi A, Divizia MT, Sforzini C, Tarantino E, Memo L, Scarano G, Larizza L. Selicorni A, et al. Clin Genet. 2007 Aug;72(2):98-108. doi: 10.1111/j.1399-0004.2007.00832.x. Clin Genet. 2007. PMID: 17661813

9

Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL.

Ratajska M, Wierzba J, Pehlivan D, Xia Z, Brundage EK, Cheung SW, Stankiewicz P, Lupski JR, Limon J. Ratajska M, et al. Eur J Med Genet. 2010 Nov-Dec;53(6):378-82. doi: 10.1016/j.ejmg.2010.08.002. Epub 2010 Aug 18. Eur J Med Genet. 2010. PMID: 20727427

10

De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.

Gil-Rodríguez MC, Deardorff MA, Ansari M, Tan CA, Parenti I, Baquero-Montoya C, Ousager LB, Puisac B, Hernández-Marcos M, Teresa-Rodrigo ME, Marcos-Alcalde I, Wesselink JJ, Lusa-Bernal S, Bijlsma EK, Braunholz D, Bueno-Martinez I, Clark D, Cooper NS, Curry CJ, Fisher R, Fryer A, Ganesh J, Gervasini C, Gillessen-Kaesbach G, Guo Y, Hakonarson H, Hopkin RJ, Kaur M, Keating BJ, Kibaek M, Kinning E, Kleefstra T, Kline AD, Kuchinskaya E, Larizza L, Li YR, Liu X, Mariani M, Picker JD, Pié Á, Pozojevic J, Queralt E, Richer J, Roeder E, Sinha A, Scott RH, So J, Wusik KA, Wilson L, Zhang J, Gómez-Puertas P, Casale CH, Ström L, Selicorni A, Ramos FJ, Jackson LG, Krantz ID, Das S, Hennekam RC, Kaiser FJ, FitzPatrick DR, Pié J. Gil-Rodríguez MC, et al. Hum Mutat. 2015 Apr;36(4):454-62. doi: 10.1002/humu.22761. Epub 2015 Mar 17. Hum Mutat. 2015. PMID: 25655089 Free article.

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