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| 1 | From azoospermia to macrozoospermia,a phenotypic continuum due to mutations in the ZMYND15 gene显示文摘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 patients and only for the most severe defects like azoospermia or macrozoospermia which is very often due to defects in the aurora kinase C(AURKC)gene.Here,we studied a subject with a severe oligozoospermia and a phenotypic diagnosis of macrozoospermia.AURKC analysis did not reveal any deleterious variant.WES was then initiated which permitted to identify a homozygous loss of function variant in the zinc finger MYND-type containing 15(ZMYND15)gene.ZMYND15 has been described to serve as a switch for haploid gene expression,and mice devoid of ZMYND15 were shown to be sterile due to nonobstructive azoospermia(NOA).In man,ZMYND15 has been associated with NOA and severe oligozoospermia.We confirm here that the presence of a bi-allelic ZMYND15 variant induces a severe oligozoospermia.In addition,we show that severe oligozoospermia can be associated macrozoospermia,and that a phenotypic misdiagnosis is possible,potentially delaying the genetic diagnosis.In conclusion,genetic defects in ZMYND15 can induce complete NOA or severe oligozoospermia associated with a very severe teratozoospermia.In our experience,severe oligozoospermia is often associated with severe teratozoospermia and can sometimes be misinterpreted as macrozoospermia or globozoospermia.In these instances,specific AURKC or dpy-19 like 2(DPY19L2)diagnosis is usually negative and we recommend the direct use of a pan-genomic techniques such as WES. | Zine-Eddine Kherraf Caroline Cazin Florence Lestrade Jana Muronova Charles Coutton Christophe Arnoult Nicolas Thierry-Mieg Pierre F Ray | 2022 | Asian Journal of Andrology2022，24，3： | 2 |
| 2 | Profit-sharing a tool for improving productivity, profitability and competitiveness of firms? 显示文摘 | JANA F PETR P | 2013 | Journal of Competitiveness2013，3，4： | 1 |
| 3 | The nucleotide profile of human milk显示文摘 | Janas L M Picciano M F | 1982 | Pediatr Res1982，16，： | 1 |
| 4 | Size and shape-controlled magnetic (Cr, Mn, Fe, Co, Ni) oxide nanocrystals via a simple and general approach 显示文摘 | Jana N R Chen Y F Peng X G | 2004 | Chemistry Materials2004，16，： | 1 |
| 5 | High-throuthput analysis of tetracycline antibiotics and their epimers in liquid manure using ultra performance liquid chromatography with UV detection显示文摘 | Tereza T Jana O Petr N Miroslav F | | 0，，： | 1 |
| 6 | Mass spectrometry in polymer chemistry: a state-of-the-art up-date 显示文摘 | Till G Sleffen W Jana F et ed | 2010 | Polymer Chemistry2010，，1： | 1 |
| 7 | Size-and shape-controlledmagnetic (Cr,Mn, Fe, Co, Ni) oxide nanocrystals via a simpleand general approach 显示文摘 | JANA N R CHEN Y F PENG X G | 2004 | Chemistry of Materials2004，16，20： | 1 |
| 8 | A lipid-lowering drug, increase myelin gene in human oligodendrocytes via peroxisome proliferator-activated receptor-beta显示文摘 | Jana M Mondal S Gonzalez F J | 2012 | J Biol Chem2012，287，34： | 1 |
| 9 | Structure of the hydroxyquinol 1, 2-dioxygenase from nocardioides simplex 3E, a key enzyme involved in polychlorinated aromatics bio- degradation 显示文摘 | Marta F Jana S Vasili M T | 2005 | Journal of Biological Chemistry2005，280，21： | 1 |
| 10 | The nucleotide profile of human milk显示文摘 | JANAS L M PICCIANO M F | 1982 | Pediatr Res1982，16，8： | 1 |
| 11 | Nanoclay-tethered shape memory poly-ure thane nanocomposites显示文摘 | Cao F Jana S C | 2007 | Polymer2007，48，： | 1 |
| 12 | Evaluation of nanoparticulate fillers for development of shape memory polyurethane nanocompesites 显示文摘 | Gunes I S Cao F Jana S C | 2008 | Polymer2008，49，： | 1 |
| 13 | 查看详情显示文摘 | Jana N R Chen Y F Peng X G | | 0，，20： | 1 |
| 14 | Complex permeability and core loss of soft magnetic Fe-based nanocrystalline powder cores显示文摘 | Jana Füzerová Ján Füzer Peter Kollár Radovan Bure? Mária Fáberová | 2013 | Journal of Magnetism and Magnetic Materials2013，，： | 1 |
| 15 | Tumor cell death induced by the inhibition of mitochondrial electron transport:the effect of3-hydroxybakuchiol显示文摘 | Jana F Faini F Lapier M | 2013 | Toxicol Appl Pharm2013，272，2： | 1 |
| 16 | Thefrequency,complications and aetiology of ADHD in new onset pae-diatric epilepsy显示文摘 | Bruce H Jana J Kevin D Chase AA Raj S Jason F | 2007 | Brain2007，130，12： | 1 |
| 17 | Uniparental disomy of the entire X chromosome in a female with Duchenne muscular dystrophy显示文摘 | Quan F Janas J Toth S | 1997 | Am J Hum Genet1997，1，： | 1 |
| 18 | Uni- parental disomy of the entire X chromo some in a female with Duchelme muscular dystrophy 显示文摘 | Quan F Janas J Toth Fejel S etal | 1997 | Am J Hum Genet1997，60，： | 1 |
| 19 | Isolation and characterization of human antigen-specific TCR^+ CD4^-CD8^-double negative regulatory T cells显示文摘 | karin F Simon V Jana H | 2004 | Blood2004，7200，28： | 1 |
| 20 | Determination of trichloroacetic acid in environmental studies using carbon 14 and chlorine 36 显示文摘 | Miroslav M Jana R Sdndor T F | 2006 | Chernosphere2006，63，： | 1 |
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