PMC Articles for MedGen (Select 1852637) - PMC

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Items: 3

Select item 96314631.

Actionable secondary findings following exome sequencing of 836 non-obstructive azoospermia cases and their value in patient management

Laura Kasak, Kristiina Lillepea, Liina Nagirnaja, Kenneth I Aston, Peter N Schlegel, João Gonçalves, Filipa Carvalho, Daniel Moreno-Mendoza, Kristian Almstrup, Michael L Eisenberg, Keith A Jarvi, Moira K O’Bryan, Alexandra M Lopes, Donald F Conrad, GEMINI Consortium , Margus Punab, Maris Laan

Hum Reprod. 2022 Jul; 37(7): 1652–1663. Published online 2022 May 10. doi: 10.1093/humrep/deac100

PMCID:: PMC9631463

Abstract Article PDF–1.0M

Select item 44354302.

Insulin-Like 3 Signaling Is Important for Testicular Descent but Dispensable for Spermatogenesis and Germ Cell Survival in Adult Mice

Zaohua Huang, Bryan Rivas, Alexander I. Agoulnik

Biol Reprod. 2012 Dec; 87(6): 143. Published online 2012 Oct 24. doi: 10.1095/biolreprod.112.103382

PMCID:: PMC4435430

Abstract Article PDF–748K

Select item 29488053.

Human Male Infertility Associated with Mutations in NR5A1 Encoding Steroidogenic Factor 1

Anu Bashamboo, Bruno Ferraz-de-Souza, Diana Lourenço, Lin Lin, Neil J. Sebire, Debbie Montjean, Joelle Bignon-Topalovic, Jacqueline Mandelbaum, Jean-Pierre Siffroi, Sophie Christin-Maitre, Uppala Radhakrishna, Hassan Rouba, Celia Ravel, Jacob Seeler, John C. Achermann, Ken McElreavey

Am J Hum Genet. 2010 Oct 8; 87(4): 505–512. doi: 10.1016/j.ajhg.2010.09.009