Exome sequencing identifying additional QRICH2 mutations in oligo-astheno-teratozoospermia and asthenospermia patients
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چکیده
منابع مشابه
Comparison between intracytoplasmic sperm injection and intracytoplasmic morphologically selected sperm injection in oligo-astheno-teratozoospermia patients
OBJECTIVE The aim of this study was to evaluate the efficiency of the intracytoplasmic morphologically selected sperm injection (IMSI) technique compared with conventional ICSI and previous ICSI attempts in oligo-astheno-teratozoospermia (OAT) patients. METHODS The sperms were selected under high magnification (6,600×) and used to induce fertilization in previous ICSI patients by IMSI. These ...
متن کاملMorphologically normal spermatozoa of patients with secretory oligo-astheno-teratozoospermia have an increased aneuploidy rate.
BACKGROUND Normal morphology is a major criterion for selecting spermatozoa to be injected. Given that teratozoospermia is one of the most critical parameters associated with sperm aneuploidy, the purpose of this study was to evaluate the aneuploidy rate of morphologically normal spermatozoa of patients with oligo-astheno-teratozoospermia (OAT). METHODS Ten patients with secretory OAT and six...
متن کاملThe role of varicocele sclerotherapy in men with severe oligo-astheno-teratozoospermia.
The aim of this study was to verify the role of antegrade scrotal sclerotherapy for the treatment of varicoceles in infertile men with severe oligo-astheno-teratozoospermia (OAT). The 59 patients with severe OAT in this study underwent antegrade scrotal sclerotherapy for the treatment of varicoceles. The outcome was assessed in terms of improvement in semen parameters and spontaneous conception...
متن کاملExome sequencing identifies PDE4D mutations in acrodysostosis.
Acrodysostosis is a dominantly-inherited, multisystem disorder characterized by skeletal, endocrine, and neurological abnormalities. To identify the molecular basis of acrodysostosis, we performed exome sequencing on five genetically independent cases. Three different missense mutations in PDE4D, which encodes cyclic AMP (cAMP)-specific phosphodiesterase 4D, were found to be heterozygous in thr...
متن کاملTitle : Evaluating the genetic diagnostic power of exome sequencing : Identifying missing data . Running title : Identifying missing data in exome sequencing
Short Report Title: Evaluating the genetic diagnostic power of exome sequencing: Identifying missing data. Running title: Identifying missing data in exome sequencing Authors: Pascual Lorente-Arencibia BEng, Deyán Guacarán BEng, Antonio Tugores PhD Affiliation: Unidad de Investigación, Complejo Hospitalario Universitario Insular Materno Infantil, Las Palmas de Gran Canaria, Spain. Corresponding...
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ژورنال
عنوان ژورنال: Fertility and Sterility
سال: 2019
ISSN: 0015-0282
DOI: 10.1016/j.fertnstert.2019.07.1077