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Genetic causes of macrozoospermia and proposal for an optimized genetic diagnosis strategy based on sperm parameters
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作者 Alicia Coudert Caroline Cazin +35 位作者 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 《Journal of Genetics and Genomics》 SCIE CAS CSCD 2023年第7期536-540,共5页
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 abnorm... 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). 展开更多
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Sperm concentration measurement with a disposable counting chamber 被引量:1
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作者 Mathilde Lemoine Xavier Ferraretto +5 位作者 Marie-Astrid Llabador-de Royer Achraf Benammar Jacques Darolles Sylvie Epelboin Florence Eustache catherine patrat 《Asian Journal of Andrology》 SCIE CAS CSCD 2018年第5期525-526,共2页
Dear Editor, In its latest edition, the World Health Organization (WHO) provides guidelines regarding the standardization of techniques for the measurement of sperm concentrationI and recommends use of a 100 μm-de... Dear Editor, In its latest edition, the World Health Organization (WHO) provides guidelines regarding the standardization of techniques for the measurement of sperm concentrationI and recommends use of a 100 μm-deep hemocytometer. However, these instructions are not always followed correctly.2 Furthermore, although hemocytometers provide more accurate and consistent results, they present several drawbacks: the chamber must be properly assembled prior to its use so as to ensure that the counts are correct and it needs to be cleaned thoroughly to remove all traces of sperm, which risks breaking the glass coverslip. 展开更多
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