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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 | Campath-1H treatment of T-cell prolymphocytic leukemia in patients for whom at least one prior chemotherapy regimen has failed显示文摘 | Keating MJ Cazin B Coutr6 S | 2002 | J Clin Oncol2002，20，1： | 1 |
| 3 | Impact of frontline fludarabine and cyclophosphamide combined treatment on peripheral blood stem cell mobilization in B-cell chronic lymphocytic leukemia 显示文摘 | Tournilhac O Cazin B Lepr6tre S | 2004 | Blood2004，103，1： | 1 |
| 4 | High remission rate in T-cell prolymphocytic leukemia with CAMPATH-1H显示文摘 | Dearden CE Matutes E Cazin B | 2001 | Blood2001，98，6： | 1 |
| 5 | High remissionrate in T-cell prolymphocytic leukemia with CAMPATH-1H显示文摘 | Dearden C E Matutes E Cazin B | 2001 | Blood2001，98，6： | 1 |
| 6 | Use of infrared thermography for the study of evaporation in a square capillary tube显示文摘 | Chauvet F Cazin S Duru P | 2010 | International Journal of Heat and Mass Transfer2010，53，910： | 1 |
| 7 | nephron sparing surgery for renal cell carcinoma using selective renal parenchymal clamping显示文摘 | vogt B cazin S | 2002 | jurol2002，167，1： | 1 |
| 8 | Checking secure interactions of smart card applets: extended version 显示文摘 | BIEBER P CAZIN J GIRAND P | 2002 | Journal of Computer Security2002，，10： | 1 |
| 9 | Additional direct medical costs associated with nosocomial infections after head and neck cancer surgery: a hospitalperspective analysis显示文摘 | Penel N Lefebvre J L Cazin J L | 2008 | Int J Oral Maxillofac Surg2008，37，2： | 1 |
| 10 | Randomized comparison of fludarahine,CAP, and CHOP in 938 previously untreated stage B and C chronic lymphocytic Ieukemia patients 显示文摘 | Leporrier M Chevret S Cazin B | 2001 | Blood2001，98，8： | 1 |
| 11 | The development of palladium catalysts for C-C and C-heteroatom bond forming reactions of aryl chloride substrates显示文摘 | Bedford R B Cazin C S J Holder D | 2004 | Coordination chemistry reviews2004，248，21： | 1 |
| 12 | Randomized com- parison of fludarabine, CAP and CHOP in 938 previously untreated stage B and C chronic lymphocytic leukemia patients 显示文摘 | Leporrier M Chevret S Cazin B | 2001 | Blood2001，98，8： | 1 |
| 13 | Production of Streptavidin in a synthetic medium显示文摘 | CAZIN J SUTER M BUTLER JE | 1988 | J Immunol Meth1988，113，2： | 1 |
| 14 | Randomized comparison of fludarabine,CAP,and CHOP in 938 previously untreated stage B and C chronic lymphocytic leukemia patients显示文摘 | Leporrier M Cheet S Cazin B | 2001 | {H}Blood2001，，08： | 1 |
| 15 | Randomized comparison of fludarabine, CAP, and ChOP in 938 previously untreated stage B and C chronic lymphocytic leukemia patients 显示文摘 | Leporrier M Chevret S Cazin B | 2001 | Blood2001，98，8： | 1 |
| 16 | Acade- sine for patients with relapsed/refractory chronic lym- phocytic leukemia(CLL) :A muhicenter phase Ⅰ/Ⅱ study 显示文摘 | Van Den Neste E Cazin B Janssens A | 2013 | Cancer Chemother Pharmacol2013，71，3： | 1 |
| 17 | High remission rate in T- cell prelymphocytic leukemia with CAMPATH-1H 显示文摘 | Dearden CE Matures E Cazin B | 2001 | Blood2001，98，6： | 1 |
| 18 | Silica-supported imine palladacycles recyclable catalysts for the Suzuki reaction 显示文摘 | Bedford Robin B Cazin Catherine S J Hursthouse Michael B | 2001 | Journal of Organometallie Chemistry2001，633，12： | 1 |
| 19 | Silicasupported imine palladacycles-recyclable catalysts for the Suzuki reaction 显示文摘 | BEDFORD R B CAZIN C S J HURSTHOUSE M B | 2001 | Journal of Organometallic Chemistry2001，633，： | 1 |
| 20 | Biotin and biotin analogs in human urine: biotin accounts for only half of the total 显示文摘 | Mock D M Lankford G L Cazin J | 1993 | J Nutr1993，123，： | 1 |
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