PMC Articles for MedGen (Select 1648444) - PMC

Select item 80096631.

A common 1.6 mb Y-chromosomal inversion predisposes to subsequent deletions and severe spermatogenic failure in humans

Pille Hallast, Laura Kibena, Margus Punab, Elena Arciero, Siiri Rootsi, Marina Grigorova, Rodrigo Flores, Mark A Jobling, Olev Poolamets, Kristjan Pomm, Paul Korrovits, Kristiina Rull, Yali Xue, Chris Tyler-Smith, Maris Laan

eLife. 2021; 10: e65420. Published online 2021 Mar 30. doi: 10.7554/eLife.65420

PMCID:: PMC8009663

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Select item 70567822.

AZF deletions in Indian populations: original study and meta-analyses

Andrabi Syed Waseem, Vertika Singh, Girish Chandra Makker, Sameer Trivedi, Geetanjali Mishra, Kiran Singh, Singh Rajender

J Assist Reprod Genet. 2020 Feb; 37(2): 459–469. Published online 2020 Jan 9. doi: 10.1007/s10815-019-01661-0

PMCID:: PMC7056782

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Select item 65054493.

A systematic review and standardized clinical validity assessment of male infertility genes

Manon S Oud, Ludmila Volozonoka, Roos M Smits, Lisenka E L M Vissers, Liliana Ramos, Joris A Veltman

Hum Reprod. 2019 May; 34(5): 932–941. Published online 2019 Mar 13. doi: 10.1093/humrep/dez022

PMCID:: PMC6505449

Article PubReader PDF–705K Cite

Select item 17356244.

Sequence family variant loss from the AZFc interval of the human Y chromosome, but not gene copy loss, is strongly associated with male infertility

N Machev, N Saut, G Longepied, P Terriou, A Navarro, N Levy, M Guichaoua, C Metzler-Guillemai..., P Collignon, A Frances, J Belougne, E Clemente, J Chiaroni, C Chevillard, C Durand, A Ducourneau, N Pech, K McElreavey, M Mattei, M Mitchell

J Med Genet. 2004 Nov; 41(11): 814–825. doi: 10.1136/jmg.2004.022111

Correction in:: J Med Genet. 2004 Dec; 41(12): 960.

PMCID:: PMC1735624

Summary PDF–432K Cite

Select item 16861445.

Genetically determined asynapsis, spermatogenic degeneration, and infertility in men.

R S Chaganti, S C Jhanwar, L T Ehrenbard, I A Kourides, J J Williams

Am J Hum Genet. 1980 Nov; 32(6): 833–848.

PMCID:: PMC1686144

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Select item 4199976.

Recombination between Palindromes P5 and P1 on the Human Y Chromosome Causes Massive Deletions and Spermatogenic Failure

Sjoerd Repping, Helen Skaletsky, Julian Lange, Sherman Silber, Fulco van der Veen, Robert D. Oates, David C. Page, Steve Rozen

Am J Hum Genet. 2002 Oct; 71(4): 906–922. Published online 2002 Sep 20. doi: 10.1086/342928

PMCID:: PMC419997

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