Multiple congenital anomalies-intellectual disability (MCA-ID) and neuroblastoma in a patient harboring a de novo 14q23.1q23.3 deletion-Reference-Cited by-同舟云学术

Multiple congenital anomalies-intellectual disability (MCA-ID) and neuroblastoma in a patient harboring a de novo 14q23.1q23.3 deletion

Published:2014-03-24 Issue:5 Volume:164 Page:1310-1317
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet

Author:

Lehalle Daphné¹²,Sanlaville Damien³,Guimier Anne¹²,Plouvier Emmanuel⁴,Leblanc Thierry⁵,Galmiche Louise⁶,Radford Isabelle¹,Romana Serge¹,Colleaux Laurence²,de Pontual Loïc²,Lyonnet Stanislas¹²,Amiel Jeanne¹²

Affiliation:

1. Département de Génétique Histologie-Embryologie-Cytogénétique; Hôpital Necker-Enfants Malades; Paris France

2. INSERM U781; Université Sorbonne Paris Cité, Institut IMAGINE; Paris France

3. Hospices Civils de Lyon; Service de Génétique and CRNL; CNRS UMR 5292; INSERM U1028, Université Claude Bernard Lyon I; Lyon France

4. Service d'Onco-Hématologie Pédiatrique; Centre Hospitalo-Universitaire de Besançon; Paris France

5. Département d'Hématologie Pédiatrique; Hôpitaux Robert Debré et Université Paris Diderot; Paris France

6. Département d'Anatomo-Pathologie; Hôpital Necker-Enfants Malades; Paris France

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference49 articles.

1. A new familial cancer syndrome including predisposition to Wilms tumor and neuroblastoma;Abbaszadeh;Fam Cancer,2010

2. Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome;Amiel;Nat Genet,2003

3. Sequence signatures and the probabilistic identification of proteins in the Myc-Max-Mad network;Atchley;Proc Natl Acad Sci USA,2005

4. Myc and Max: Molecular evolution of a family of proto-oncogene products and their dimerization partner;Atchley;Proc Natl Acad Sci USA,1995

5. Deletion of a single-copy DAAM1 gene in congenital heart defect: A case report;Bao;BMC Med Genet,2012

Cited by 11 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. Could the 14q23.2 microdeletion or AKAP5 haploinsufficiency be a potential cause of intellectual disability?;Psychiatric Genetics;2024-04-20

2. Vocal learning–associated convergent evolution in mammalian proteins and regulatory elements;Science;2024-03-29

3. Genetic Predisposition;Pediatric Oncology;2024

4. Pediatric solid tumors and associated cancer predisposition syndromes: Workup, management, and surveillance. A summary from the APSA Cancer Committee;Journal of Pediatric Surgery;2022-03

5. Formins in Human Disease;Cells;2021-09-27