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Quoted phrase not found in phrase index: "Spermatogenic failure, Y-linked, 2"
Page 1
Spermatogenic failure and the Y chromosome.
Krausz C, Casamonti E. Krausz C, et al. Hum Genet. 2017 May;136(5):637-655. doi: 10.1007/s00439-017-1793-8. Epub 2017 Apr 29. Hum Genet. 2017. PMID: 28456834 Review.
The Y chromosome harbors a number of genes essential for testis development and function. Its highly repetitive structure predisposes this chromosome to deletion/duplication events and is responsible for Y-linked copy-number variations (CNVs) with clinical re …
The Y chromosome harbors a number of genes essential for testis development and function. Its highly repetitive structure predisposes …
Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1.
Lopes AM, Aston KI, Thompson E, Carvalho F, Gonçalves J, Huang N, Matthiesen R, Noordam MJ, Quintela I, Ramu A, Seabra C, Wilfert AB, Dai J, Downie JM, Fernandes S, Guo X, Sha J, Amorim A, Barros A, Carracedo A, Hu Z, Hurles ME, Moskovtsev S, Ober C, Paduch DA, Schiffman JD, Schlegel PN, Sousa M, Carrell DT, Conrad DF. Lopes AM, et al. PLoS Genet. 2013 Mar;9(3):e1003349. doi: 10.1371/journal.pgen.1003349. Epub 2013 Mar 21. PLoS Genet. 2013. PMID: 23555275 Free PMC article.
After assaying genomewide SNPs and CNVs in 323 Caucasian men with idiopathic spermatogenic impairment and more than 1,100 controls, we estimate that each rare autosomal deletion detected in our study multiplicatively changes a man's risk of disease by 10% (OR 1.10 [1.04-1. …
After assaying genomewide SNPs and CNVs in 323 Caucasian men with idiopathic spermatogenic impairment and more than 1,100 controls, w …
Clinical relevance of Y-linked CNV screening in male infertility: new insights based on the 8-year experience of a diagnostic genetic laboratory.
Lo Giacco D, Chianese C, Sánchez-Curbelo J, Bassas L, Ruiz P, Rajmil O, Sarquella J, Vives A, Ruiz-Castañé E, Oliva R, Ars E, Krausz C. Lo Giacco D, et al. Eur J Hum Genet. 2014 Jun;22(6):754-61. doi: 10.1038/ejhg.2013.253. Epub 2013 Nov 6. Eur J Hum Genet. 2014. PMID: 24193344 Free PMC article.
Gr/gr deletion, but not AZFc partial duplications, was significantly associated with spermatogenic impairment. Our data integrated with the literature suggest that: (1) routine AZF microdeletion testing could eventually include only men with 2 10(6)/ml; (2) c …
Gr/gr deletion, but not AZFc partial duplications, was significantly associated with spermatogenic impairment. Our data integrated wi …
Phenotypic expression of partial AZFc deletions is independent of the variations in DAZL and BOULE in a Han population.
Chen P, Ma M, Li L, Zhang S, Su D, Ma Y, Liu Y, Tao D, Lin L, Yang Y. Chen P, et al. J Androl. 2010 Mar-Apr;31(2):163-8. doi: 10.2164/jandrol.108.007187. Epub 2009 Apr 2. J Androl. 2010. PMID: 19342699 Free article.
DAZ on the Y chromosome and 2 autosomal ancestral genes DAZL and BOULE are suggested to represent functional conservation in spermatogenesis. ...The distribution of DAZL haplotypes from 4 variations, including T12A, and of BOULE haplotypes from 2 SNPs was sim …
DAZ on the Y chromosome and 2 autosomal ancestral genes DAZL and BOULE are suggested to represent functional conservation in s …
First study of microdeletions in the Y chromosome of Algerian infertile men with idiopathic oligo- or azoospermia.
Chellat D, Rezgoune ML, McElreavey K, Kherouatou N, Benbouhadja S, Douadi H, Cherifa B, Abadi N, Satta D. Chellat D, et al. Urol Int. 2013;90(4):455-9. doi: 10.1159/000347046. Epub 2013 Mar 16. Urol Int. 2013. PMID: 23548818
Among the 80 infertile men screened for microdeletion, 1 subject was found to have microdeletions in the AZFc (sY254 and sY255) region. The deletion was found in azoospermic subjects (1/49, 2%). The overall AZF deletion frequency was low (1/80, 1.3%). AZF microdeletions we …
Among the 80 infertile men screened for microdeletion, 1 subject was found to have microdeletions in the AZFc (sY254 and sY255) region. The …