Truncating mutations in the last exon ofNOTCH3cause lateral meningocele syndrome-Reference-Cited by-同舟云学术

Truncating mutations in the last exon ofNOTCH3cause lateral meningocele syndrome

Published:2014-11-13 Issue:2 Volume:167 Page:271-281
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Gripp Karen W.¹,Robbins Katherine M.²³,Sobreira Nara L.⁴,Witmer P. Dane⁵,Bird Lynne M.⁶,Avela Kristiina⁷,Makitie Outi⁸,Alves Daniela⁹,Hogue Jacob S.¹⁰,Zackai Elaine H.¹¹,Doheny Kimberly F.⁵,Stabley Deborah L.²,Sol-Church Katia²

Affiliation:

1. Division of Medical Genetics; A.I. duPont Hospital for Children; Wilmington, Delaware, and Sidney Kimmel Medical School at T. Jefferson University; Philadelphia Pennsylvania

2. Department of Biomedical Research; A.I. duPont Hospital for Children; Wilmington Delaware

3. Department of Biological Sciences; University of Delaware; Newark Delaware

4. Johns Hopkins University School of Medicine; Institute of Genetic Medicine; Baltimore Maryland

5. Center for Inherited Disease Research; Institute of Genetic Medicine; Johns Hopkins University School of Medicine; Baltimore Maryland

6. University of California San Diego and Rady Children's Hospital; San Diego California

7. Department of Clinical Genetics; Helsinki University Central Hospital; Helsinki Finland

8. Children's Hospital; Helsinki University Central Hospital and University of Helsinki, and Folkhälsan Institute of Genetics; Helsinki Finland

9. Neurogenetics Unit; Department of Medical Genetics; Centro Hospitalar de São João; Porto Portugal

10. Madigan Army Medical Center; Tacoma Washington

11. Division of Human Genetics and Molecular Biology; Children's Hospital of Philadelphia; Philadelphia Pennsylvania

Funder

Nemours Foundation Cluster

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference29 articles.

1. An integrated map of genetic variation from 1,092 human genomes;Abecasis;Nature,2012

2. Response to “Lateral Meningocele Syndrome and Hajdu-Cheney syndrome: Different disorders with overlapping phenotypes” by Gripp;Avela;Am J Med Genet Part A,2011

3. Hajdu-Cheney syndrome with severe dural ectasia;Avela;Am J Med Genet Part A,2011

4. Notch3: From subtle structural differences to functional diversity;Bellavia;Oncogene,2008

5. Late diagnosis of lateral meningocele syndrome in 55-year-old woman with symptoms of joint instability and chronic musculoskeletal pain;Castori;Am J Med Genet Part A,2014

Cited by 60 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. Clinical and neuroradiological spectrum of biallelic variants in NOTCH3;eBioMedicine;2024-09

2. A Case of Lateral Meningocele Syndrome without Lateral Meningoceles;Molecular Syndromology;2024

3. CADASIL: A NOTCH3-associated cerebral small vessel disease;Journal of Advanced Research;2024-01

4. Antisense oligonucleotides targeting a NOTCH3 mutation in male mice ameliorate the cortical osteopenia of lateral meningocele syndrome;Bone;2023-12

5. MMP19 Variants in Familial and Sporadic Idiopathic Pulmonary Fibrosis;Lung;2023-11-16