Compound heterozygous null mutations of NOBOX in sisters with delayed puberty and primary amenorrhea-Reference-Cited by-同舟云学术

Compound heterozygous null mutations of NOBOX in sisters with delayed puberty and primary amenorrhea

Published:2021-09-04 Issue:10 Volume:9 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Sassi Asma¹^ORCID,Désir Julie²,Duerinckx Sarah³^ORCID,Soblet Julie²⁴⁵,Van Dooren Sonia⁶,Bonduelle Maryse⁷,Abramowicz Marc²³,Delbaere Anne¹^ORCID

Affiliation:

1. Fertility Clinic Department of Obstetrics and Gynecology Erasme Hospital Université Libre de Bruxelles Brussels Belgium

2. Department of Genetics Erasme Hospital ULB Center of Human Genetics Université Libre de Bruxelles Brussels Belgium

3. Institute of Interdisciplinary Research in Human and Molecular Biology Human Genetics IRIBHMUniversité Libre de Bruxelles Brussels Belgium

4. Department of Genetics Hôpital Universitaire des Enfants Reine Fabiola ULB Center of Human Genetics Université Libre de Bruxelles Brussels Belgium

5. Interuniversity Institute of Bioinformatics in Brussels Université Libre de Bruxelles Brussels Belgium

6. Brussels Interuniversity Genomics High Throughput core (Bright Core) Brussels Belgium

7. Centre for Medical Genetics, Reproduction and Genetics, Reproduction and Genetics and Regenerative Medicine UZ Brussel Vrije Universiteit Brussel Brussels Belgium

Funder

Fonds Erasme

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1776

Reference39 articles.

1. AMH mutations with reduced in vitro bioactivity are related to premature ovarian insufficiency

2. NOBOXis a strong autosomal candidate gene in Tunisian patients with primary ovarian insufficiency

3. Novel NOBOX loss-of-function mutations account for 6.2% of cases in a large primary ovarian insufficiency cohort

4. Identification of Multiple Gene Mutations Accounts for a new Genetic Architecture of Primary Ovarian Insufficiency

5. R‐pondin2, a novel target of NOBOX: Identification of variants in a cohort of women with primary ovarian insufficiency;Bouilly J.;Journal of Ovarian Research,2017

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2. Genetic aspects of POI and «poor response»: a modern view of the problem;Problemy reproduktsii;2023

3. Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine;eBioMedicine;2022-10