Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease-Reference-Cited by-同舟云学术

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Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease

Published:2019-08-29 Issue: Volume:10 Page:
ISSN:1664-8021
Container-title:Frontiers in Genetics
language:
Short-container-title:Front. Genet.

Author:

Flück Christa E.,Audí Laura,Fernández-Cancio Mónica,Sauter Kay-Sara,Martinez de LaPiscina Idoia,Castaño Luis,Esteva Isabel,Camats Núria

Funder

Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung

Agència de Gestió d’Ajuts Universitaris i de Recerca

Publisher

Frontiers Media SA

Subject

Genetics(clinical),Genetics,Molecular Medicine

Reference84 articles.

1. Translational genetics for diagnosis of human disorders of sex development;Baxter;Annu. Rev. Genomics Hum. Genet.,2013

2. Exome sequencing for the diagnosis of 46,XY disorders of sex development;Baxter;J. Clin. Endocrinol. Metab.,2015

3. FGFR2, FGF8, FGF10 and BMP7 as candidate genes for hypospadias;Beleza-Meireles;Eur. J. Hum. Genet.,2007

4. Activating transcription factor 3: a hormone responsive gene in the etiology of hypospadias;Beleza-Meireles;Eur. J. Endocrinol.,2008

5. Expression profiling of purified mouse gonadal somatic cells during the critical time window of sex determination reveals novel candidate genes for human sexual dysgenesis syndromes;Beverdam;Hum. Mol. Genet.,2006

Cited by 27 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. Genomic technologies and the diagnosis of 46, XY differences of sex development;Andrology;2024-07-31

2. Digenic Origin of Difference of Sex Development in a Patient Harbouring DHX37 and MAMLD1 Variants;Case Reports in Pediatrics;2024-01

3. Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development;eBioMedicine;2024-01

4. Differences in Sex Development;Avery's Diseases of the Newborn;2024

5. Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations;PLOS ONE;2023-07-11

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