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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 | 1Sfinder: the reference centre for bacterial insertion sequences显示文摘 | Siguier P Perochon J Lestrade L | 2006 | Nucleic Acids Research2006，34，： | 1 |
| 3 | Ulnar nerve compression atthe wrist by a synovial cyst successfully treated with percuta-neous puncture and corticosteroid injection 显示文摘 | Seror P Lestrade M Vacher H | 2000 | Joint BoneSpine2000，67，： | 1 |
| 4 | snoRNA-LBME-db, a comprehensive database of human H/ACA and C/D box snoRNAs 显示文摘 | Lestrade L and Weber M J | 2006 | Nucleic Acids Research2006，34，： | 1 |
| 5 | Effects of polarization charge on the photovohaic properties of InGaN solar cells 显示文摘 | LI Z Q LESTRADE M XIAO Y G | 2011 | Physica Status Solidi: A2011，208，4： | 1 |
| 6 | External Beam Radiotherapy ± Chemotherapy in the Treatment of Anal Canal Cancer: A Single-Institute Long-Term Experience on 100 Patients显示文摘 | Berardino De Bari Michela Buglione Marta Maddalo Laë titia Lestrade Luigi Spiazzi Paola Vitali Fernando Barbera Stefano M. Magrini | 2014 | Cancer Investigation2014，，6： | 1 |
| 7 | snoRNA-LBME-db, a comprehensive database of human H/ACA and C/D box snoRNAs 显示文摘 | Lestrade L Weber M J | 2006 | Nucleic Acids Res2006，34，： | 1 |
| 8 | snoRNA-LBME-db, a comprehensive data- base of human H/ACA and C/D box snoRNAs 显示文摘 | Lestrade L Weber MJ | 2006 | Nucleic Acids Res2006，34，： | 1 |
| 9 | Observation of an extra emission around 2 MeV in the spectrum of an intense gamma-ray burst显示文摘 | Barat C Lestrade J P Dezalay J -P | 2000 | ApJ2000，538，： | 1 |
| 10 | Genetic causes of macrozoospermia and proposal for an optimized genetic diagnosis strategy based on sperm parameters显示文摘Macrozoospermia,characterized by the presence of largeheaded spermatozoa usually carrying several flagella,is one of the most severe phenotypes of male infertility.As in most cases,the gametes are chromosomally abnormal and cannot be used for assisted reproductive technologies(ART)(Ray et al.,2017).In 2007,subjects from consanguineous families were shown to carry the same homozygous deleterious AURKC variant(NM_001015878.2:c.144delC,later renamed c.145delC,p.Leu49TrpfsTer23),establishing AURKC as the first and main gene associated with macrozoospermia(Dieterich et al.,2007).Using flow cytometry,all spermatozoa from patients homozygous for the c.145delC variant were shown to be tetraploid,highlighting a cytokinesis blockage of the first meiotic divisions thus confirming that ART cannot be successful for these patients(Dieterich et al.,2009). | Alicia Coudert Caroline Cazin Amir Amiri-Yekta Selima Fourati Ben Mustapha Raoudha Zouari Julien Bessonat Abdelali Zoghmar Antoine Clergeau Catherine Metzler-Guillemain Chema Triki Herve Lejeune Nathalie Sermondade Eva Pipiras Nadia Prisant Isabelle Cedrin Leila Keskes Florence Lestrade Laetitia Hesters Nathalie Rives Beatrice Dorphin Agnes Guichet Catherine Patrat Emmanuel Dulioust Aur elie Feraille Franc ois Robert Eric Bieth Arthur Sorlin Jean-Pierre Siffroi Mariem Ben Khelifa Florence Boiterelle Sylvianne Hennebicq Veronique Satre Christophe Arnoult Charles Coutton Anne-Laure Barbotin Nicolas Thierry-Mieg Zine-Eddine Kherraf Pierre F.Ray | 2023 | Journal of Genetics and Genomics2023，50，7： | 0 |
| 11 | 知识就是力量——具有高性能塔盘的脱异丁烷塔的脱瓶颈改造显示文摘优化工艺设备的性能,需要对设备本身和设备所服务的工艺具有相当深刻的了解。分裂精馏塔包括再沸器、换热器和泵,以及分馏塔盘和分配器。本文描述了在不影响效率的情况下最大化精馏塔能力的改造工程,改造的基础是在道达尔炼油公司(比利时安特卫普市)的脱异丁烷塔内使用Sulzer Chemtech公司的VGPlus塔盘。 | Giuseppe Mosca Gitta Van Heme Roberto Tocco Bruno Lestrade | 2006 | 流程工业2006，，7： | 0 |
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