Human Genome Epidemiology Literature Finder
Records 1 - 6 (of 6 Records) |
Query Trace: Disorders of Sex Development and HSD17B3[original query] |
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Screening for mutations in 17ß-hydroxysteroid dehydrogenase and androgen receptor in women presenting with partially virilised 46,XY disorders of sex development. European journal of endocrinology / European Federation of Endocrine Societies 2015 Mar . Phelan Niamh, Williams Emma L, Cardamone Stefanie, Lee Marilyn, Creighton Sarah M, Rumsby Gill, Conway Gerard |
Novel cases of Tunisian patients with mutations in the gene encoding 17ß-hydroxysteroid dehydrogenase type 3 and a founder effect. The Journal of steroid biochemistry and molecular biology 2016 Mar . Ben Rhouma Bochra, Kallabi Fakhri, Mahfoudh Nadia, Ben Mahmoud Afif, Engeli Roger T, Kamoun Hassen, Keskes Leila, Odermatt Alex, Belguith Nei |
Analysis of testosterone pathway genes in dogs (78,XY; SRY-positive) with ambiguous external genitalia revealed a homozygous animal for 2-bp deletion causing premature stop codon in HSD17B3. Animal genetics 2019 9 50 (6): 705-711. Krzeminska P, Nizanski W, Nowacka-Woszuk J, Switonski |
A large cohort of disorders of sex development and their genetic characteristics: 6 novel mutations in known genes. European journal of medical genetics 2021 1 64 (3): 104154. Ata Aysun, Özen Samim, Onay Hüseyin, Uzun Selin, Gök?en Damla, Özk?nay Ferda, Özbaran Nazl? Burcu, Ulman ?brahim, Darcan ?ükr |
How Far Should We Explore Hypospadias? Next-generation Sequencing Applied to a Large Cohort of Hypospadiac Patients. European urology 2021 1 79 (4): 507-515. Ea Vuthy, Bergougnoux Anne, Philibert Pascal, Servant-Fauconnet Nadège, Faure Alice, Breaud Jean, Gaspari Laura, Sultan Charles, Paris Françoise, Kalfa Nicol |
Comprehensive molecular analysis identifies eight novel variants in XY females with disorders of sex development. Molecular human reproduction 2023 1 29 (2): . Kulkarni Vinayak, Chellasamy Selvaa Kumar, Dhangar Somprakash, Ghatanatti Jagdeeshwar, Vundinti Babu R |
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- Page last updated:Apr 22, 2024
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