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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 6 (of 6 Records)

Query Trace: Primary Ovarian Insufficiency and NOBOX[original query]
New NOBOX mutations identified in a large cohort of women with primary ovarian insufficiency decrease KIT-L expression.
The Journal of clinical endocrinology and metabolism 2015 Mar 100 (3): 994-1001.
Bouilly Justine, Roucher-Boulez Florence, Gompel Anne, Bry-Gauillard Hélène, Azibi Kemal, Beldjord Cherif, Dodé Catherine, Bouligand Jérôme, Mantel Anne Guiochon, Hécart Annie-Claude, Delemer Brigitte, Young Jacques, Binart Nadi
Identification of Multiple Gene Mutations Accounts for a new Genetic Architecture of Primary Ovarian Insufficiency.
The Journal of clinical endocrinology and metabolism 2016 Sep jc20162152.
Bouilly Justine, Beau Isabelle, Barraud Sara, Bernard Valérie, Azibi Kemal, Fagart Jérôme, Fèvre Anne, Todeschini Anne Laure, Veitia Reiner A, Beldjord Chérif, Delemer Brigitte, Dodé Catherine, Young Jacques, Binart Nadi
NOBOX is a strong autosomal candidate gene in Tunisian patients with primary ovarian insufficiency.
Clinical genetics 2016 Feb .
Nouha Bouali, Bruno Francou, Jérôme Bouligand, Besma Lakhal, Iness Malek, Molka Kammoun, Josiane Warszawski, Soumaya Mougou, Ali Saad, Anne Guiochon-Mant
The Potential Synergic Effect of a Complex Pattern of Multiple Inherited Genetic Variants as a Pathogenic Factor for Ovarian Dysgenesis: A Case Report.
Frontiers in endocrinology 2020 10 11 540683.
Cattoni Alessandro, Spano Alice, Tulone Anna, Boneschi Annalisa, Masera Nicoletta, Maitz Silvia, Di Blasio Anna Maria, Persani Luca, Guizzardi Fabiana, Rossetti Raffael
Screening of targeted panel genes in Brazilian patients with primary ovarian insufficiency.
PloS one 2020 10 15 (10): e0240795.
França Monica M, Funari Mariana F A, Lerario Antonio M, Santos Mariza G, Nishi Mirian Y, Domenice Sorahia, Moraes Daniela R, Costalonga Everlayny F, Maciel Gustavo A R, Maciel-Guerra Andrea T, Guerra-Junior Gil, Mendonca Berenice
Next Generation Sequencing Should Be Proposed to Every Woman With "Idiopathic" Primary Ovarian Insufficiency.
Journal of the Endocrine Society 2021 6 5 (7): bvab032.
Eskenazi Sarah, Bachelot Anne, Hugon-Rodin Justine, Plu-Bureau Genevieve, Gompel Anne, Catteau-Jonard Sophie, Molina-Gomes Denise, Dewailly Didier, Dodé Catherine, Christin-Maitre Sophie, Touraine Philip
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