Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement-Reference-Cited by-同舟云学术

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

Published:2018-07-11 Issue:10 Volume:19 Page:649-666
ISSN:1471-0056
Container-title:Nature Reviews Genetics
language:en
Short-container-title:Nat Rev Genet

Author:

Kline Antonie D.,Moss Joanna F.,Selicorni Angelo,Bisgaard Anne-Marie,Deardorff Matthew A.,Gillett Peter M.,Ishman Stacey L.,Kerr Lynne M.,Levin Alex V.,Mulder Paul A.,Ramos Feliciano J.,Wierzba Jolanta,Ajmone Paola Francesca,Axtell David,Blagowidow Natalie,Cereda Anna,Costantino Antonella,Cormier-Daire Valerie,FitzPatrick David,Grados Marco,Groves Laura,Guthrie Whitney,Huisman Sylvia,Kaiser Frank J.,Koekkoek Gerritjan,Levis Mary,Mariani Milena,McCleery Joseph P.,Menke Leonie A.,Metrena Amy,O’Connor Julia,Oliver Chris,Pie Juan,Piening Sigrid,Potter Carol J.,Quaglio Ana L.,Redeker Egbert,Richman David,Rigamonti Claudia,Shi Angell,Tümer Zeynep,Van Balkom Ingrid D. C.,Hennekam Raoul C.

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

http://www.nature.com/articles/s41576-018-0031-0.pdf

Reference195 articles.

1. De Lange, C. Sur un type nouveau de degenerescence (typus Amsterlodamensis). Arch. Med. Enfants 36, 713–719 (1933).

2. Kline, A. D. et al. Natural history of aging in Cornelia de Lange syndrome. Am. J. Med. Genet. C Semin. Med. Genet. 145C, 248–260 (2007). This is a hallmark paper in the description of the physical signs and symptoms in individuals with CdLS.

3. Huisman, S. A. et al. Phenotypes and genotypes in 51 individuals with SMC1A variants. Am. J. Med. Genet. 173A, 2108–2125 (2017).

4. Yuan, B. et al. Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. J. Clin. Invest. 125, 636–651 (2015).

5. Saunier, C. et al. Expanding the phenotype associated with NAA10-related N-terminal acetylation deficiency. Hum. Mutat. 37, 755–764 (2016).

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