نتایج جستجو برای: microdeletions

تعداد نتایج: 900  

Journal: :cell journal 0
fahimeh asadi mohammad ali sadighi gilani azadeh ghaheri javad roodgar saffari mohammadreza zamanian

objective: microdeletions of the y chromosome long arm are the most common molecular genetic causes of severe infertility in men. they affect three regions including azoospermia factors (azfa, azfb and azfc), which contain various genes involved in spermatogenesis. the aim of the present study was to reveal the patterns of y chromosome microdeletions in iranian infertile men referred to royan i...

Y chromosome microdeletions are the second genetic cause of male infertility. The incidence of Y chromosome microdeletions can vary considerably depending on several factors, including patient selection criteria, population composition, and diagnostic protocols. They are associated with spermatogenic failure and lead to azoospermia or oligozoospermia. The advance in assisted reproductive techno...

2016
Raheleh Masoudi Liusa Mazaheri-Asadi Shahryar Khorasani

Y chromosome microdeletions are the second genetic cause of male infertility. The incidence of Y chromosome microdeletions can vary considerably depending on several factors, including patient selection criteria, population composition, and diagnostic protocols. They are associated with spermatogenic failure and lead to azoospermia or oligozoospermia. The advance in assisted reproductive techno...

2017
Fahimeh Asadi Mohammad Ali Sadighi Gilani Azadeh Ghaheri Javad Roodgar Saffari Mohammadreza Zamanian

OBJECTIVE Microdeletions of the Y chromosome long arm are the most common molecular genetic causes of severe infertility in men. They affect three regions including azoospermia factors (AZFa, AZFb and AZFc), which contain various genes involved in spermatogenesis. The aim of the present study was to reveal the patterns of Y chromosome microdeletions in Iranian infertile men referred to Royan In...

2015
Dennis Lal Ann-Kathrin Ruppert Holger Trucks Herbert Schulz Carolien G. de Kovel Dorothée Kasteleijn-Nolst Trenité Anja C. M. Sonsma Bobby P. Koeleman Dick Lindhout Yvonne G. Weber Holger Lerche Claudia Kapser Christoph J. Schankin Wolfram S. Kunz Rainer Surges Christian E. Elger Verena Gaus Bettina Schmitz Ingo Helbig Hiltrud Muhle Ulrich Stephani Karl M. Klein Felix Rosenow Bernd A. Neubauer Eva M. Reinthaler Fritz Zimprich Martha Feucht Rikke S. Møller Helle Hjalgrim Peter De Jonghe Arvid Suls Wolfgang Lieb Andre Franke Konstantin Strauch Christian Gieger Claudia Schurmann Ulf Schminke Peter Nürnberg Thomas Sander

Genetic generalised epilepsy (GGE) is the most common form of genetic epilepsy, accounting for 20% of all epilepsies. Genomic copy number variations (CNVs) constitute important genetic risk factors of common GGE syndromes. In our present genome-wide burden analysis, large (≥ 400 kb) and rare (< 1%) autosomal microdeletions with high calling confidence (≥ 200 markers) were assessed by the Affyme...

2005
Cong-yi YU Guang-lun ZHUANG Can-quan ZHOU Ning SU Qing-xue ZHANG Dong-zi YANG

Objective To develop a multiplex PCR protocol for routine screening of microdeletions on the Y chromosome Methods Five multiplex sets were established and Y chromosome microdeletions screening were carried out in 26 azoospermic men who undertook ICSI and 30 azoospermic men who undertook testicular biopsy. Results In 56 azoospermic men, 5 patients were found with AZFc/DAZ microdeletions, 2 patie...

2017
Shin Young Kim Hyun Jin Kim Bom Yi Lee So Yeon Park Hyo Serk Lee Ju Tae Seo

BACKGROUND The purpose of the study was to investigate the frequencies and types of Y chromosome microdeletions in infertile men and to analyze the relationship between the levels of reproductive hormones and Y microdeletions. METHODS A total of 1,226 infertile men were screened for Y chromosome microdeletions using multiplex PCR assay. Karyotype analysis was performed on peripheral blood lym...

Journal: :Genetics and molecular research : GMR 2012
R-L Dai R-X Wang J-L Jin G-N Niu J-Y Lee S-B Li R-Z Liu

We investigated the frequency and types of Y-chromosome microdeletions and chromosomal anomalies in non-obstructive azoospermic and severely oligozoospermic infertile males in northeastern China. The sample consisted of 519 infertile males (456 azoospermic, 63 severely oligozoospermic). PCR assays for Y-chromosome microdeletions and chromosome analysis were performed on all patients and co...

2015
Raheleh Masoudi

Today, with advances in assisted reproductive techniques, many infertile couples are able to have children. However, there is always risk of passing genetic abnormalities associated with infertility from parents to children. Therefore, detection of microdeletions of Y chromosome in patients with spermatogenesis failure seems very important. The purpose of this study was to determine the frequen...

Objective microdeletions of Yq chromosome are the most frequent molecular genetics etiology for the male infertility which usually spans AZFa (azoo spermia factor a), AZFb and AZFc regions. Microdeletions are mostly seen in AZFc region and usually cover genes actively involved in spermatogenesis. Partial AZFc microdeletion may also happen with various spans namely gr/gr, b2/b3 and b1/b3. It is ...

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