Heterozygous NOTCH1 deletion associated with variable congenital heart defects-Reference-Cited by-同舟云学术

Heterozygous NOTCH1 deletion associated with variable congenital heart defects

Published:2021-05-02 Issue:6 Volume:99 Page:836-841
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Roifman Maian¹²^ORCID,Chung Brian Hon Yin¹³^ORCID,Reid Diane Myles¹,Teitelbaum Ronni¹,Martin Nicole¹,Nield Lynne E.⁴,Thompson Megan⁵⁶,Shannon Patrick⁵,Chitayat David¹²

Affiliation:

1. The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynaecology Mount Sinai Hospital, University of Toronto Toronto Ontario Canada

2. Division of Clinical and Metabolic Genetics, Department of Paediatrics The Hospital for Sick Children, University of Toronto Toronto Ontario Canada

3. Department of Paediatrics and Adolescent Medicine LKS Faculty of Medicine The University of Hong Kong Hong Kong China

4. Division of Cardiology, Department of Paediatrics The Hospital for Sick Children, University of Toronto Toronto Ontario Canada

5. Department of Pathology and Laboratory Medicine Mount Sinai Hospital, University of Toronto Toronto Ontario Canada

6. Department of Fetal Pathology, Kaiser Permanente Oakland Medical Center Oakland California USA

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13948

Reference23 articles.

1. Notch signaling in cardiac valve development and disease

2. Mutations in NOTCH1 cause aortic valve disease

3. Novel missense mutations (p.T596M and p.P1797H) in NOTCH1 in patients with bicuspid aortic valve

4. Novel NOTCH1 mutations in patients with bicuspid aortic valve disease and thoracic aortic aneurysms

5. NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling

Cited by 9 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. Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart disease;European Journal of Human Genetics;2024-05-22

2. Expanding the phenotypic spectrum of NOTCH1 variants: Clinical manifestations in families with congenital heart disease;2024-01-17

3. Somatic GATA4 mutation contributes to tetralogy of Fallot;Experimental and Therapeutic Medicine;2024-01-08

4. Discovery of BMP10 as a new gene underpinning congenital heart defects;American Journal of Translational Research;2024

5. Whole exome sequencing reveals genetic landscape associated with left ventricular outflow tract obstruction in Chinese Han population;Frontiers in Genetics;2023-12-18