Novel homozygous truncating variants in ZMYND15 causing severe oligozoospermia and their implications for male infertility
Sign Up to like & getrecommendations! Published in 2020 at "Human Mutation"
DOI: 10.1002/humu.24138
Abstract: Sequence variants of ZMYND15 cause azoospermia in humans, but they have not yet been reported in infertile men with severe oligozoospermia (SO). We performed whole‐exome and Sanger sequencing to identify suspected causative variants in 414… read more here.
Keywords: novel homozygous; variants zmynd15; male infertility; infertility ... See more keywords
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
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Clinical Laboratory Analysis"
DOI: 10.1002/jcla.24272
Abstract: This study aimed to analyze the incidence of azoospermia factor a (AZFa) microdeletions in the Y chromosome and their association with male infertility in a population with azoospermia and severe oligozoospermia from Iraq. read more here.
Keywords: factor azfa; severe oligozoospermia; azoospermia severe; azoospermia factor ... See more keywords
Two cases of complex balanced autosomal translocations associated with severe oligozoospermia.
Sign Up to like & getrecommendations! Published in 2018 at "Gene"
DOI: 10.1016/j.gene.2018.04.052
Abstract: Complex balanced autosomal translocation is rare and can lead to impaired spermatogenesis in males; however, its effects on oligozoospermia have rarely been reported. We report here two cases of rare complex balanced translocation in men… read more here.
Keywords: complex balanced; rp11; der; two cases ... See more keywords
Y-chromosome microdeletions in nonobstructive azoospermia and severe oligozoospermia
Sign Up to like & getrecommendations! Published in 2017 at "Asian Journal of Andrology"
DOI: 10.4103/1008-682x.172827
Abstract: The aim of the present work was to present the outcomes of the patients with Y-chromosome microdeletions treated by intracytoplasmic sperm injection (ICSI), either using fresh (TESE) or frozen-thawed (TESE-C) testicular sperm and ejaculated sperm… read more here.
Keywords: chromosome microdeletions; azfc tese; azoospermia; rate ... See more keywords
From azoospermia to macrozoospermia, a phenotypic continuum due to mutations in the ZMYND15 gene
Sign Up to like & getrecommendations! Published in 2022 at "Asian Journal of Andrology"
DOI: 10.4103/aja202194
Abstract: Thanks to tremendous advances in sequencing technologies and in particular to whole exome sequencing (WES), many genes have now been linked to severe sperm defects. A precise genetic diagnosis is obtained for a minority of… read more here.
Keywords: macrozoospermia; severe oligozoospermia; phenotypic; gene ... See more keywords