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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 | From red water to pump failures-corrosion control activities & related studies 显示文摘 | BRODEUR T DAVIS F S FLORENCE R | 2006 | Florida Water Resources Journal2006，，12： | 1 |
| 3 | Neuropsychological prediction of dementia in Parkinson's disease显示文摘 | FLORENCE M GILLES F ANTOINE F | 1998 | Neurol Neurosurg Psychiatry1998，64，2： | 1 |
| 4 | Thermal inactivation and injury of Bacillus stearothermophilus spores显示文摘 | FLORENCE E F DONALD T M DURWOOD B R | 1987 | Applied and Environmental Microbiology1987，53，2： | 1 |
| 5 | Studies on electrodeposition of copper from methanesulphonic acid bath 显示文摘 | FLORENCE F J NISHA P RAJENDRAN S | 2010 | International Journal of ChemTech Research2010，3，3： | 1 |
| 6 | Reorganization of descending motor tracts in the rat spinal cord显示文摘 | Olivier R Karim F Florence MB | 2002 | European Journal of Neuroscience2002，16，9： | 1 |
| 7 | Recent advances inquantitative PCR(qPCR) applications in food microbiology 显示文摘 | Florence P Helene F Sona P | 2011 | Food Microbiology2011，28，5： | 1 |
| 8 | Evidence ofpresence of poliovirus genomic sequences in cerebrospinal fluidfrom patients with postpolio syndrome显示文摘 | ISABELLE L G JEAN J FLORENCE F | 1996 | Clin Microbiology1996，34，： | 1 |
| 9 | Follow - up of couples with primary infertility in an ART programme using frozen donor semen 显示文摘 | G Fabrice F Florence M Henri | 2002 | Human Reproduction2002，17，6： | 1 |
| 10 | Thermal Inactivation and Injury of Bacillus stearothermophilus Spores显示文摘 | Florence E F Donald T M Durwood B R | 1987 | Applied and Environmental Microbiology1987，53，2： | 1 |
| 11 | Evaluation of new iron chelators and their therapeutic potential 显示文摘 | AOUAD F FLORENCE A ZHANG Y | 2002 | Inorg Claim Aeta2002，339，4： | 1 |
| 12 | Prognostic interest of bone turnover markers in the management of postmenopausal osteoporosis显示文摘 | Florence C Emmanuel B Thomas F B | 2012 | Joint Bone Spine2012，79，1： | 1 |
| 13 | Titanate-based ceramics for separated long-lived radionuclides 显示文摘 | CATHERINE F THIERRY A FLORENCE B | 2004 | Comptes Rendus Chimie2004，7，： | 1 |
| 14 | Spin crossover intermediate plateau stabilization in a flexible 2-D hofmann-type coordination polymer 显示文摘 | Natasha F S Florence R Cameron J K | 2014 | Chemical Communication2014，50，29： | 1 |
| 15 | Impact of businesscycles on US suicide rates, 1928-2007 显示文摘 | Luo F Florence C Quispe-Agnoli M | 2011 | Amer- ican Journal of Public Health2011，101，6： | 1 |
| 16 | Evidence of presence of poliovirus genomic sequences in cerebrospinal fluid from patients with postpolio syndrome显示文摘 | Isabelle LG Jean J Florence F | 1996 | Clin Microbiology1996，34，： | 1 |
| 17 | Decreased TrkA Gene Expression in Cholinergic Neurons of the Striatum and Basal Forebrain of Patients with Alzheimer's Disease显示文摘 | Florence B Baptiste F Merle R | 1997 | Exp Neuro1997，14，5： | 1 |
| 18 | Anti-Hu-assoeiated Paraneoplastie eneephalo myelitis: analysis of 200 patients 显示文摘 | Graus F Florence KG Ramon R | 2001 | Brain2001，124，6： | 1 |
| 19 | Risk of Lung Cancer Associated With Occupational Exposure to Mineral Wools: Updating Knowledge From a French Population-Based Case–Control Study, the ICARE Study显示文摘 | Florence Guida Sophie Paget-Bailly Farida Lamkarkach Oumar Gaye Stéphane Ducamp Gwenn Menvielle Alexandra Papadopoulos Mireille Matrat Jo?lle Févotte Sylvie Cénée Diane Cyr Annie Schmaus Matthieu Carton Loredana Rado? Bénédicte Lap?tre-Ledoux Florence Mol | 2013 | Journal of Occupational and Environmental Medicine2013，，7： | 1 |
| 20 | Blocking apoptosis prevents blingdness in Drosophila retinal degeneration mutants显示文摘 | Florence F Davidson and Hermann Steller | 1998 | Nature1998，391，6667： | 1 |
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