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Page 1
Diverse monogenic subforms of human spermatogenic failure.
Nagirnaja L, Lopes AM, Charng WL, Miller B, Stakaitis R, Golubickaite I, Stendahl A, Luan T, Friedrich C, Mahyari E, Fadial E, Kasak L, Vigh-Conrad K, Oud MS, Xavier MJ, Cheers SR, James ER, Guo J, Jenkins TG, Riera-Escamilla A, Barros A, Carvalho F, Fernandes S, Gonçalves J, Gurnett CA, Jørgensen N, Jezek D, Jungheim ES, Kliesch S, McLachlan RI, Omurtag KR, Pilatz A, Sandlow JI, Smith J, Eisenberg ML, Hotaling JM, Jarvi KA, Punab M, Rajpert-De Meyts E, Carrell DT, Krausz C, Laan M, O'Bryan MK, Schlegel PN, Tüttelmann F, Veltman JA, Almstrup K, Aston KI, Conrad DF. Nagirnaja L, et al. Among authors: punab m. Nat Commun. 2022 Dec 26;13(1):7953. doi: 10.1038/s41467-022-35661-z. Nat Commun. 2022. PMID: 36572685 Free PMC article.
Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure.
Hardy JJ, Wyrwoll MJ, Mcfadden W, Malcher A, Rotte N, Pollock NC, Munyoki S, Veroli MV, Houston BJ, Xavier MJ, Kasak L, Punab M, Laan M, Kliesch S, Schlegel P, Jaffe T, Hwang K, Vukina J, Brieño-Enríquez MA, Orwig K, Yanowitz J, Buszczak M, Veltman JA, Oud M, Nagirnaja L, Olszewska M, O'Bryan MK, Conrad DF, Kurpisz M, Tüttelmann F, Yatsenko AN; GEMINI Consortium. Hardy JJ, et al. Among authors: punab m. Hum Genet. 2021 Aug;140(8):1169-1182. doi: 10.1007/s00439-021-02287-y. Epub 2021 May 7. Hum Genet. 2021. PMID: 33963445 Free PMC article.
Actionable secondary findings following exome sequencing of 836 non-obstructive azoospermia cases and their value in patient management.
Kasak L, Lillepea K, Nagirnaja L, Aston KI, Schlegel PN, Gonçalves J, Carvalho F, Moreno-Mendoza D, Almstrup K, Eisenberg ML, Jarvi KA, O'Bryan MK, Lopes AM, Conrad DF; GEMINI Consortium; Punab M, Laan M. Kasak L, et al. Among authors: punab m. Hum Reprod. 2022 Jun 30;37(7):1652-1663. doi: 10.1093/humrep/deac100. Hum Reprod. 2022. PMID: 35535697 Free PMC article.
Diminished DNA binding affinity of DMRT1 caused by heterozygous DM domain mutations is a cause of male infertility.
Marić T, Castillo-Madeen H, Klarić ML, Barišić A, Trgovec-Greif L, Murphy MW, Juchnewitsch AG, Lillepea K, Dutta A, Žunić L, Stendahl AM, Punab M, Pomm K, Mendoza DM, Lopes AM, Šorgić AM, Vugrek O, Gonçalves J, Almstrup K, Aston KI, Belužić R, Ježek D, Bertoša B, Laan M, Bojanac AK, Conrad DF, Barbalić M. Marić T, et al. Among authors: punab m. Hum Mol Genet. 2025 Jan 8:ddae197. doi: 10.1093/hmg/ddae197. Online ahead of print. Hum Mol Genet. 2025. PMID: 39777458
Evidence-based definition of hypoprolactinemia in European men aged 40-86 years: the European male ageing study.
Han TS, Antonio L, Bartfai G, O'Neill TW, Punab M, Rastrelli G, Maggi M, Słowikowska-Hilczer J, Tournoy J, Vanderschueren D, Lean MEJ, Huhtaniemi IT, Wu FCW, Castro AI, Carreira MC, Casanueva FF. Han TS, et al. Among authors: punab m. Rev Endocr Metab Disord. 2024 Dec;25(6):1097-1107. doi: 10.1007/s11154-024-09890-0. Epub 2024 Jun 3. Rev Endocr Metab Disord. 2024. PMID: 38829475 Free PMC article. Review.
196 results