Similar articles for PMID: 23505322

Year	Number of Results
1961	1
1999	1
2002	1
2003	1
2004	5
2005	4
2006	9
2007	8
2008	5
2009	6
2010	11
2011	6
2012	13
2013	17
2014	18
2015	13
2016	16
2017	14
2018	17
2019	14
2020	14
2021	10
2022	12
2024	0

1

High rate of mosaicism in individuals with Cornelia de Lange syndrome.

Huisman SA, Redeker EJ, Maas SM, Mannens MM, Hennekam RC. Huisman SA, et al. J Med Genet. 2013 May;50(5):339-44. doi: 10.1136/jmedgenet-2012-101477. Epub 2013 Mar 15. J Med Genet. 2013. PMID: 23505322

2

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. Gervasini C, et al. Eur J Med Genet. 2013 Mar;56(3):138-43. doi: 10.1016/j.ejmg.2012.12.009. Epub 2013 Jan 8. Eur J Med Genet. 2013. PMID: 23313159

3

Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients.

Schoumans J, Wincent J, Barbaro M, Djureinovic T, Maguire P, Forsberg L, Staaf J, Thuresson AC, Borg A, Nordgren A, Malm G, Anderlid BM. Schoumans J, et al. Eur J Hum Genet. 2007 Feb;15(2):143-9. doi: 10.1038/sj.ejhg.5201737. Epub 2006 Nov 15. Eur J Hum Genet. 2007. PMID: 17106445

4

A novel mosaic variant on SMC1A reported in buccal mucosa cells, albeit not in blood, of a patient with Cornelia de Lange-like presentation.

Gonzalez Garcia A, Malone J, Li H. Gonzalez Garcia A, et al. Cold Spring Harb Mol Case Stud. 2020 Jun 12;6(3):a005322. doi: 10.1101/mcs.a005322. Print 2020 Jun. Cold Spring Harb Mol Case Stud. 2020. PMID: 32532882 Free PMC article.

5

Novel mosaic variants in two patients with Cornelia de Lange syndrome.

Pozojevic J, Parenti I, Graul-Neumann L, Ruiz Gil S, Watrin E, Wendt KS, Werner R, Strom TM, Gillessen-Kaesbach G, Kaiser FJ. Pozojevic J, et al. Eur J Med Genet. 2018 Nov;61(11):680-684. doi: 10.1016/j.ejmg.2017.11.004. Epub 2017 Nov 15. Eur J Med Genet. 2018. PMID: 29155047

6

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. Castronovo P, et al. Clin Genet. 2010 Dec;78(6):560-4. doi: 10.1111/j.1399-0004.2010.01408.x. Clin Genet. 2010. PMID: 20331678

7

Hidden mutations in Cornelia de Lange syndrome limitations of sanger sequencing in molecular diagnostics.

Braunholz D, Obieglo C, Parenti I, Pozojevic J, Eckhold J, Reiz B, Braenne I, Wendt KS, Watrin E, Vodopiutz J, Rieder H, Gillessen-Kaesbach G, Kaiser FJ. Braunholz D, et al. Hum Mutat. 2015 Jan;36(1):26-9. doi: 10.1002/humu.22685. Epub 2014 Dec 2. Hum Mutat. 2015. PMID: 25196272

8

A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome.

Nizon M, Henry M, Michot C, Baumann C, Bazin A, Bessières B, Blesson S, Cordier-Alex MP, David A, Delahaye-Duriez A, Delezoïde AL, Dieux-Coeslier A, Doco-Fenzy M, Faivre L, Goldenberg A, Layet V, Loget P, Marlin S, Martinovic J, Odent S, Pasquier L, Plessis G, Prieur F, Putoux A, Rio M, Testard H, Bonnefont JP, Cormier-Daire V. Nizon M, et al. Clin Genet. 2016 May;89(5):584-9. doi: 10.1111/cge.12720. Epub 2016 Feb 3. Clin Genet. 2016. PMID: 26701315 Free article.

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

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

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Results by year

Text availability

Article attribute

Article type

Publication date

186 results

Results by year