Special cases in Cornelia de Lange syndrome: The Spanish experience-Reference-Cited by-同舟云学术

Special cases in Cornelia de Lange syndrome: The Spanish experience

Published:2016-05-10 Issue:2 Volume:172 Page:198-205
ISSN:1552-4868
Container-title:American Journal of Medical Genetics Part C: Seminars in Medical Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Pié Juan,Puisac Beatriz,Hernández-Marcos Maria,Teresa-Rodrigo Maria Esperanza,Gil-Rodríguez Maria,Baquero-Montoya Carolina,Ramos-Cáceres Maria,Bernal Maria,Ayerza-Casas Ariadna,Bueno Inés,Gómez-Puertas Paulino,Ramos Feliciano J.

Funder

Spanish Ministry of Health-Fondo de Investigación Sanitaria

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference30 articles.

1. Male with mosaicism for supernumerary ring X chromosome: Analysis of phenotype and characterization of genotype using array comparative genome hybridization;Baker;J Craniofac Surg,2010

2. Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation;Baquero-Montoya;Eur J Med Genet,2014a

3. Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches;Baquero-Montoya;Clin Genet,2014b

4. Could a patient with SMC1A duplication be classified as a human cohesinopathy;Baquero-Montoya;Clin Genet,2014c

5. Descriptive epidemiology of Cornelia de Lange syndrome in Europe;Barisic;Am J Med Genet A

Cited by 21 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. STAG2-RAD21 complex: A unidirectional DNA ratchet mechanism in loop extrusion;International Journal of Biological Macromolecules;2024-09

2. Assessment of Quality of Life Using the Kidslife Scale in Individuals With Cornelia de Lange Syndrome;Cureus;2024-04-01

3. Quality of Life Evaluation Using the Kidslife Scale in Individuals with Cornelia de Lange Syndrome;2024-02-07

4. Endocrine Evaluation and Homeostatic Model Assessment in Patients with Cornelia de Lange Syndrome;Journal of Clinical Research in Pediatric Endocrinology;2022-12-08

5. Case report: A novel case of parental mosaicism in SMC1A gene causes inherited Cornelia de Lange syndrome;Frontiers in Genetics;2022-09-28