Literature DB >> 20425817

Cornelia de Lange syndrome: extending the physical and psychological phenotype.

Chris Oliver1, Maria Francesca Bedeschi, Natalie Blagowidow, Cheri S Carrico, Anna Cereda, David R Fitzpatrick, Cristina Gervasini, Gemma M Griffith, Antonie D Kline, P Marchisio, Joanna Moss, Feliciano J Ramos, Angelo Selicorni, Penny Tunnicliffe, Jolanta Wierzba, Raoul C M Hennekam.   

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Year:  2010        PMID： 20425817     DOI： 10.1002/ajmg.a.33363

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  9 in total

1.  Cornelia de Lange syndrome due to mosaic NIPBL mutation: antenatal presentation with sacrococcygeal teratoma.

Authors:  Nishant Banait; Alan Fenton; Miranda Splitt
Journal:  BMJ Case Rep       Date:  2015-08-14

2.  Genetic enhancement of limb defects in a mouse model of Cornelia de Lange syndrome.

Authors:  Martha E Lopez-Burks; Rosaysela Santos; Shimako Kawauchi; Anne L Calof; Arthur D Lander
Journal:  Am J Med Genet C Semin Med Genet       Date:  2016-04-27       Impact factor: 3.908

3.  [NIPBL gene mutations in two children with Cornelia de Lange syndrome].

Authors:  Yun-Jing Zhao; Hong-Wei Ma
Journal:  Zhongguo Dang Dai Er Ke Za Zhi       Date:  2018-05

4.  Genetic basis of cohesinopathies.

Authors:  José L Barbero
Journal:  Appl Clin Genet       Date:  2013-05-01

5.  A report of 2 cases of Cornelia de Lange syndrome (CdLS) and an analysis of clinical and genetic characteristics in a Chinese CdLS cohort.

Authors:  Shuo Li; Hui Miao; Hongbo Yang; Linjie Wang; Fengying Gong; Shi Chen; Huijuan Zhu; Hui Pan
Journal:  Mol Genet Genomic Med       Date:  2019-12-24       Impact factor: 2.183

6.  Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome.

Authors:  Cristina Gervasini; Chiara Picinelli; Jacopo Azzollini; Daniela Rusconi; Maura Masciadri; Anna Cereda; Cinzia Marzocchi; Giuseppe Zampino; Angelo Selicorni; Romano Tenconi; Silvia Russo; Lidia Larizza; Palma Finelli
Journal:  BMC Med Genet       Date:  2013-04-03       Impact factor: 2.103

7.  Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and a NIPBL Mutation.

Authors:  Rose H Mende; David P Drake; Raimos M Olomi; Ben C J Hamel
Journal:  Case Rep Genet       Date:  2012-12-10

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

Authors:  Alina Kuzniacka; Jolanta Wierzba; Magdalena Ratajska; Beata S Lipska; Magdalena Koczkowska; Monika Malinowska; Janusz Limon
Journal:  J Appl Genet       Date:  2012-12-20       Impact factor: 3.240

Review 9.  Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement.

Authors:  Antonie D Kline; Joanna F Moss; Angelo Selicorni; Anne-Marie Bisgaard; Matthew A Deardorff; Peter M Gillett; Stacey L Ishman; Lynne M Kerr; Alex V Levin; Paul A Mulder; Feliciano J Ramos; Jolanta Wierzba; Paola Francesca Ajmone; David Axtell; Natalie Blagowidow; Anna Cereda; Antonella Costantino; Valerie Cormier-Daire; David FitzPatrick; Marco Grados; Laura Groves; Whitney Guthrie; Sylvia Huisman; Frank J Kaiser; Gerritjan Koekkoek; Mary Levis; Milena Mariani; Joseph P McCleery; Leonie A Menke; Amy Metrena; Julia O'Connor; Chris Oliver; Juan Pie; Sigrid Piening; Carol J Potter; Ana L Quaglio; Egbert Redeker; David Richman; Claudia Rigamonti; Angell Shi; Zeynep Tümer; Ingrid D C Van Balkom; Raoul C Hennekam
Journal:  Nat Rev Genet       Date:  2018-10       Impact factor: 53.242
  9 in total

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