Genome-wide compound heterozygote analysis highlights DPY19L2 alleles in a non-consanguineous Spanish family with a complete form of globozoospermia

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منابع مشابه

Assessment of DPY19L2 Deletion in Familial and Non-Familial Individuals with Globozoospermia and DPY19L2 Genotyping

Objective Globozoospermia is a rare syndrome with an incidence of less than 0.1% among infertile men. Researchers have recently identified a large deletion, about 200 kbp, encompassing the whole length of DPY19L2 or mutations in SPATA16 and PICK1 genes associated with globozoospermia. The aim of this study was to analyze the DPY19L2 gene deletion using polymerase chain reaction technique for th...

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Assessment of DPY19L2 Deletion in Familial and Non-Familial Individuals with Globozoospermia and DPY19L2 Genotyping

BACKGROUND Globozoospermia is a rare syndrome with an incidence of less than 0.1% among infertile men. Researchers have recently identified a large deletion, about 200 kbp, encompassing the whole length of DPY19L2 or mutations in SPATA16 and PICK1 genes associated with globozoospermia. The aim of this study was to analyze the DPY19L2 gene deletion using polymerase chain reaction technique for t...

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assessment of dpy19l2 deletion in familial and non-familial individuals with globozoospermia and dpy19l2 genotyping

objective: globozoospermia is a rare syndrome with an incidence of less than 0.1% among infertile men. researchers have recently identified a large deletion, about 200 kbp, encompassing the whole length of dpy19l2 or mutations in spata16 and pick1 genes associated with globozoospermia. the aim of this study was to analyze the dpy19l2 gene deletion using polymerase chain reaction technique for t...

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P-204: Evaluation of DPY19L2 Gene Deletion As A Major Cause of Globozoospermia, in Iranian Globozoospermic Infertile Men

Background: Male infertility is a Multifactorial syndrome encompassing a wide variety of disorders. In more than half of infertile men, the cause of their infertility is unknown (idiopathic) and could be congenital or acquired. Globozoospermia, also called round-headed spermatozoa, is a rare disease with incidence< 0.1% among male infertile patients. The most prominent feature of globozoospermi...

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ژورنال

عنوان ژورنال: European urology open science

سال: 2021

ISSN: ['2666-1691', '2666-1683']

DOI: https://doi.org/10.1016/s2666-1683(21)01203-9