Diverse genetic causes of amenorrhea in an ethnically homogeneous cohort and an evolving approach to diagnosis-Reference-Cited by-同舟云学术

Diverse genetic causes of amenorrhea in an ethnically homogeneous cohort and an evolving approach to diagnosis

Published:2024-06 Issue: Volume:587 Page:112212
ISSN:0303-7207
Container-title:Molecular and Cellular Endocrinology
language:en
Short-container-title:Molecular and Cellular Endocrinology

Author:

Bakhshalizadeh Shabnam,Afkhami Fateme,Bell Katrina M.,Robevska Gorjana^ORCID,van den Bergen Jocelyn^ORCID,Cronin Sara,Jaillard Sylvie^ORCID,Ayers Katie L.^ORCID,Kumar Pramod^ORCID,Siebold Christian,Xiao Zhangping,Tate Edward W.,Danaei Shahla,Farzadi Laya,Shahbazi Shirin^ORCID,Sinclair Andrew H.,Tucker Elena J.^ORCID

Funder

BBSRC

NHMRC

Cancer Research UK

Engineering and Physical Sciences Research Council

UKRI

Publisher

Elsevier BV

Reference102 articles.

1. Biallelic novel missense HHAT variant causes syndromic microcephaly and cerebellar‐vermis hypoplasia;Abdel‐Salam;Am. J. Med. Genet.,2019

2. Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion;Abou Tayoun;Hum. Mutat.,2018

3. Array comparative genomic hybridization profiling analysis reveals deoxyribonucleic acid copy number variations associated with premature ovarian failure;Aboura;J. Clin. Endocrinol. Metabol.,2009

4. Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure;Aittomäki;Cell,1995

5. Evaluating hedgehog acyltransferase activity and inhibition using the acylation-coupled lipophilic induction of polarization (Acyl-cLIP) assay;Andrei;Hedgehog Signaling: Methods and Protocols,2022

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