Gonadal Determination and Adrenal Development Are Regulated by the Orphan Nuclear Receptor Steroidogenic Factor-1, in a Dose-Dependent Manner

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Items 101–200 of 304

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7. The novel p.Cys65Tyr mutation in NR5A1gene in three 46,XY siblings with normal testosterone levels and their mother with primary ovarian insufficiency
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    C. Colson, E. Aubry, Maryse Cartigny, A.‐A. Rémy, H. Franquet, Xavier Leroy, G. Kéchid, Caroline Lefèvre, R. Besson, Martine Cools et al. · 2016 · Clinical Genetics
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42. Battle of the sexes: new insights into genetic pathways of gonadal development.
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46. Multifunctional role of steroidogenic factor 1 and disorders of sex development
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47. DHX37 and NR5A1 Variants Identified in Patients with 46,XY Partial Gonadal Dysgenesis
    Felipe Rodrigues de Oliveira, Taís Nitsch Mazzola, Maricilda Palandi de Mello, Ana Paula Francese‐Santos, Sofia Helena Valente de Lemos‐Marini, Andréa Trevas Maciel‐Guerra, Olaf Hiort, Ralf Werner, Gil Guerra‐Júnior, Helena Fabbri‐Scallet · 2023 · Life
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    Wei Liu, Min Liu, WuQiang Fan, Hajime Nawata, Toshihiko Yanase · 2006 · Diabetes Research and Clinical Practice
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    Humphrey Hung‐Chang Yao, Erica K. Ungewitter, Heather L. Franco, Blanche Capel · 2014 · Elsevier eBooks
50. 46,XY disorders of sex development (DSD)
    Berenice Bilharinho Mendonca, Sorahia Domenice, Ivo J.P. Arnhold, Elaine Maria Frade Costa · 2009 · Clinical Endocrinology
51. Complete XY gonadal dysgenesis due to p.D293N homozygous mutation in theNR5A1 gene: a case study
    Fernanda Caroline Soardi, Fernanda Borchers Coeli, Andréa Trevas Maciel‐Guerra, Gil Guerra‐Júnior, Maricilda Palandi de Mello · 2010 · Journal of Applied Genetics
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    Nan Miao, Xin Wang, Yue Hou, Yanping Feng, Yanzhang Gong · 2016 · Molecular and Cellular Endocrinology
53. Overview of genetics of disorders of sexual development
    David Rodriguez‐Buritica · 2015 · Current Opinion in Pediatrics
54. Pediatric Disorders of Sex Development
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60. Sexual dimorphism of gonadal development
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62. Novel Insights into 46,XY Disorders of Sex Development due to NR5A1 Gene Mutation
    Ralf Werner, Isabel Mönig, Julia M. August, Clemens Freiberg, Ralf Lünstedt, Benedikt Reiz, Lutz Wünsch, Paul‐Martin Holterhus, Alexandra E. Kulle, Ulla Döhnert et al. · 2015 · Sexual Development
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80. Caring for individuals with a difference of sex development (DSD): a Consensus Statement
    Marc Cools, Anna Nordenström, Ralitsa N. Robeva, Hall J, Puck Westerveld, C Flück, Brooke Kohler, Berra M, Springer A, KARL W. SCHWEIZER et al. · 2018 · Yearbook of pediatric endocrinology
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    John C. Achermann · 2005 · Annales d Endocrinologie
95. Defects of Adrenal Steroidogenesis
    Michael Paul Wajnrajch, Maria I. New · 2010 · Elsevier eBooks
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    Teruo Sugawara, E. Nomura, A. Nakajima, Noriaki Sakuragi · 2004 · Journal of Endocrinological Investigation
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    M C Raux-Demay · 2010 · EMC - Pediatría
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