نتایج جستجو برای: total globozoospermia

تعداد نتایج: 800043  

Journal: :Human reproduction 2012
Charles Coutton Raoudha Zouari Farid Abada Mariem Ben Khelifa Ghaya Merdassi Chema Triki Denise Escalier Laetitia Hesters Valérie Mitchell Rachel Levy Nathalie Sermondade Florence Boitrelle François Vialard Véronique Satre Sylviane Hennebicq Pierre-Simon Jouk Christophe Arnoult Joël Lunardi Pierre F Ray

STUDY QUESTION Do DPY19L2 heterozygous deletions and point mutations account for some cases of globozoospermia? SUMMARY ANSWER Two DPY19L2 heterozygous deletions and three point mutations were identified, thus further confirming that genetic alterations of the DPY19L2 gene are the main cause of globozoospermia and indicating that DPY19L2 molecular diagnostics should not be stopped in the abse...

2015
VY Phan Eva Littman Dee Harris

Objective: To report a successful pregnancy after transfer of embryos derived from oocytes activated by calcium ionophore after intracytoplasmic sperm injection (ICSI) with round-headed sperms and aneuploid screening using aCGH. Design: Case report Setting: Private IVF clinic. Patient: A 28-year-old patients and her 31-year-old husband, diagnosed with 100% globozoospermia, underwent ICSI, oocyt...

Journal: :The Journal of clinical investigation 2006
Angshumoy Roy Yi-Nan Lin Martin M Matzuk

Lipid storage diseases are debilitating inherited metabolic disorders that stem from the absence of specific lysosomal enzymes that degrade selected lipids. Most characteristically, these disorders affect the nervous and the reticulo-endothelial systems, with massive organomegaly resulting from the presence of engorged, lipid-laden macrophages. In this issue of the JCI, Yildiz et al. describe t...

Journal: :Fertility and Sterility 2021

In men with ART failure, sperm DNA sequencing ultrastructural analysis can identify specific defects and guide treatment. the past 2 years, 22 consenting who failed IVF cycles due to severe astheno-/teratozoospermia were recruited; specimens from 3 fertile used as controls. To assess ultrastructure by transmission electron microscopy (TEM), pelleted spermatozoa fixed, embedded, sectioned 100-nm...

2015
Sandra Yassine Jessica Escoffier Roland Abi Nahed Virginie Pierre Thomas Karaouzene Pierre F. Ray Christophe Arnoult

The acrosome is an organelle that is central to sperm physiology and a defective acrosome biogenesis leads to globozoospermia, a severe male infertility. The identification of the actors involved in acrosome biogenesis is therefore particularly important to decipher the molecular pathogeny of globozoospermia. We recently showed that a defect in the DPY19L2 gene is present in more than 70% of gl...

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