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Items: 13

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 94838952.

Molecular diversity and phenotypic pleiotropy of ancient genomic regulatory loci derived from human endogenous retrovirus type H (HERVH) promoter LTR7 and HERVK promoter LTR5_Hs and their contemporary impacts on pathophysiology of Modern Humans

Gennadi V. Glinsky

Mol Genet Genomics. 2022; 297(6): 1711–1740. Published online 2022 Sep 19. doi: 10.1007/s00438-022-01954-7

PMCID:: PMC9483895

Abstract Article PDF–7.2M

Select item 94747503.

Genomic testing for copy number and single nucleotide variants in spermatogenic failure

J. Hardy, N. Pollock, T. Gingrich, P. Sweet, A. Ramesh, J. Kuong, A. Basar, H. Jiang, K. Hwang, J. Vukina, T. Jaffe, M. Olszewska, M. Kurpisz, A. N. Yatsenko

J Assist Reprod Genet. 2022 Sep; 39(9): 2103–2114. Published online 2022 Jul 18. doi: 10.1007/s10815-022-02538-5

PMCID:: PMC9474750

Abstract Article PDF–1.4M

Select item 89060234.

Detection of partial and/or complete Y chromosome microdeletions of azoospermia factor a (AZFa) sub‐region in infertile Iraqi patients with azoospermia and severe oligozoospermia

Mushtak T. S. Al‐Ouqaili, Sahar K. Al‐Ani, Rehab Alaany, Mohammed N. Al‐Qaisi

J Clin Lab Anal. 2022 Mar; 36(3): e24272. Published online 2022 Feb 5. doi: 10.1002/jcla.24272

PMCID:: PMC8906023

Abstract Article PDF–472K

Select item 80046775.

Genetics of Azoospermia

Francesca Cioppi, Viktoria Rosta, Csilla Krausz

Int J Mol Sci. 2021 Mar; 22(6): 3264. Published online 2021 Mar 23. doi: 10.3390/ijms22063264

PMCID:: PMC8004677

Abstract Article PDF–1.4M

Select item 72790136.

Toxic Effects of Nonylphenol on Neonatal Testicular Development in Mouse Organ Culture

Hyun-Jung Park, Mingtian Zhang, Won-Young Lee, Kwon-Ho Hong, Jeong Tae Do, Chankyu Park, Hyuk Song

Int J Mol Sci. 2020 May; 21(10): 3491. Published online 2020 May 15. doi: 10.3390/ijms21103491

PMCID:: PMC7279013

Abstract Article PDF–1.7M

Select item 72336477.

Non-syndromic monogenic male infertility

Giulia Guerri, Tiziana Maniscalchi, Shila Barati, Gian Maria Busetto, Francesco Del Giudice, Ettore De Berardinis, Rossella Cannarella, Aldo Eugenio Calogero, Matteo Bertelli

Acta Biomed. 2019; 90(Suppl 10): 62–67. Published online 2019 Sep 30. doi: 10.23750/abm.v90i10-S.8762

PMCID:: PMC7233647

Abstract Article PDF–577K

Select item 70567538.

A contiguous microdeletion syndrome at Xp23.13 with non-obstructive azoospermia and congenital cataracts

Aubrey Milunsky, Jeff M. Milunsky, Weilai Dong, Hayk Hovhannisyan, Robert D. Oates

J Assist Reprod Genet. 2020 Feb; 37(2): 471–475. Published online 2020 Jan 9. doi: 10.1007/s10815-019-01685-6

Correction in:: J Assist Reprod Genet. 2021 Sep; 38(9): 2501.

PMCID:: PMC7056753

Abstract Article PDF–3.9M

Select item 53746309.

Testis Transcriptome Modulation in Klinefelter Patients with Hypospermatogenesis

Marco D’Aurora, Alberto Ferlin, Andrea Garolla, Sara Franchi, Laura D’Onofrio, Oriana Trubiani, Giandomenico Palka, Carlo Foresta, Liborio Stuppia, Valentina Gatta

Sci Rep. 2017; 7: 45729. Published online 2017 Mar 31. doi: 10.1038/srep45729

PMCID:: PMC5374630

Abstract Article PDF–1015K

Select item 380053210.

Mitochondrial DNA polymerase gamma gene polymorphism is not associated with male infertility

J. Poongothai

J Assist Reprod Genet. 2013 Sep; 30(9): 1109–1114. Published online 2013 Aug 4. doi: 10.1007/s10815-013-0058-2

PMCID:: PMC3800532

Abstract Article PDF–241K

Select item 364412011.

Greater prevalence of Y chromosome Q1a3a haplogroup in Y-microdeleted Chilean men: a case–control study

María C. Lardone, Altinay Marengo, Alexis Parada-Bustamante, Lucía Cifuentes, Antonio Piottante, Mauricio Ebensperger, Raúl Valdevenito, Andrea Castro

J Assist Reprod Genet. 2013 Apr; 30(4): 531–538. Published online 2013 Feb 8. doi: 10.1007/s10815-013-9950-z

PMCID:: PMC3644120

Abstract Article PDF–232K

Select item 308485312.

Copy Number Variants in Patients with Severe Oligozoospermia and Sertoli-Cell-Only Syndrome

Frank Tüttelmann, Manuela Simoni, Sabine Kliesch, Susanne Ledig, Bernd Dworniczak, Peter Wieacker, Albrecht Röpke

PLoS One. 2011; 6(4): e19426. Published online 2011 Apr 29. doi: 10.1371/journal.pone.0019426

PMCID:: PMC3084853

Abstract Article PDF–504K

Select item 294880513.

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