PMC Articles for MedGen (Select 1648494) - PMC

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

Article PDF–1.0M

Select item 94747502.

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

Article PDF–1.4M

Select item 87303113.

A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene–disease relationships

Brendan J Houston, Antoni Riera-Escamilla, Margot J Wyrwoll, Albert Salas-Huetos, Miguel J Xavier, Liina Nagirnaja, Corinna Friedrich, Don F Conrad, Kenneth I Aston, Csilla Krausz, Frank Tüttelmann, Moira K O’Bryan, Joris A Veltman, Manon S Oud

Hum Reprod Update. 2022 Jan-Feb; 28(1): 15–29. Published online 2021 Sep 8. doi: 10.1093/humupd/dmab030

PMCID:: PMC8730311

Article PDF–1.1M

Select item 77059784.

The association between the two more common genetic causes of spermatogenic failure: a 7-year retrospective study

Hong-Ge Li, Li-Hong Fan, Bei Liu, Ye-Qing Qian, Min Chen, Yi-Xi Sun, Min-Yue Dong

Asian J Androl. 2020 Nov-Dec; 22(6): 642–648. Published online 2020 May 1. doi: 10.4103/aja.aja_13_20

PMCID:: PMC7705978

Article PDF–481K

Select item 74326925.

External and Genetic Conditions Determining Male Infertility

Piotr Kamiński, Jędrzej Baszyński, Izabela Jerzak, Brendan P. Kavanagh, Ewa Nowacka-Chiari, Mateusz Polanin, Marek Szymański, Alina Woźniak, Wojciech Kozera

Int J Mol Sci. 2020 Aug; 21(15): 5274. Published online 2020 Jul 24. doi: 10.3390/ijms21155274

PMCID:: PMC7432692

Article PDF–417K

Select item 70567536.

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

Article PDF–3.9M

Select item 27315587.

Sperm chromatin proteomics identifies evolutionarily conserved fertility factors

Diana S. Chu, Hongbin Liu, Paola Nix, Tammy F. Wu, Edward J. Ralston, John R. Yates, III, Barbara J. Meyer

Nature. Author manuscript; available in PMC 2009 Aug 25.

Published in final edited form as: Nature. 2006 Sep 7; 443(7107): 101–105. Published online 2006 Aug 30. doi: 10.1038/nature05050

PMCID:: PMC2731558

Article PDF–1.4M

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