نتایج جستجو برای: microdeletions

تعداد نتایج: 900  

2012
S Ghorbian K Saliminejad M R Sadeghi Gh R Javadi K Kamali N Amirjannati F Bahreini H Edalatkhah H R Khorram Khorshid

BACKGROUND To date, the role of male factor contributing in evaluation of spontaneous recurrent pregnancy loss (RPL) has been less investigated and there is discrepancy in the role of Y chromosome microdeltions in RPL. Therefore, the current study was designed to examine whether Y chromosome microdeletions were associated with RPL in an Iranian population. METHODS One hundred men from couples...

Journal: :Hong Kong medical journal = Xianggang yi xue za zhi 2009
Paulina P Y Ng Mary H Y Tang Elizabeth T Lau Lucy K L Ng Ernest H Y Ng P C Tam William S B Yeung P C Ho

OBJECTIVE To report the type and frequency of chromosomal anomalies and Y-microdeletions among Hong Kong Chinese subfertile men with sperm concentrations lower than 5 million/mL. DESIGN. Retrospective study. SETTING A reproductive centre in Hong Kong. PARTICIPANTS A total of 295 Chinese subfertile men who underwent both karyotyping and Y-microdeletion studies from 2000 to 2007 were categori...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2002
Hui Liu Simon C Heath Christina Sobin J Louw Roos Brandi L Galke Maude L Blundell Marge Lenane Brian Robertson Ellen M Wijsman Judith L Rapoport Joseph A Gogos Maria Karayiorgou

The location of a schizophrenia susceptibility locus at chromosome 22q11 has been suggested by genome-wide linkage studies. Additional support was provided by the observation of a higher-than-expected frequency of 22q11 microdeletions in patients with schizophrenia and the demonstration that approximately 20-30% of individuals with 22q11 microdeletions develop schizophrenia or schizoaffective d...

Journal: :Clinical genetics 2016
X Ning S Farschtschi A Jones H Kehrer-Sawatzki V-F Mautner J M Friedman

Microdeletions of the entire NF1 gene and surrounding genomic region occur in about 5% of patients with neurofibromatosis 1 (NF1). NF1 microdeletion patients usually have more cutaneous and plexiform neurofibromas and a higher risk of developing malignant peripheral nerve sheath tumors than other people with NF1. Somatic overgrowth has also been observed in NF1 microdeletion patients, an observ...

Journal: :Genetics and molecular research : GMR 2015
L L Li Y Z Zhu X W Yu R X Wang Z M Hu R Z Liu

Y chromosome microdeletions can cause male infertility and are classified as natural transmission and de novo mutations. To examine the source of these deletions in Chinese men and to provide a theoretical and laboratory basis for genetic counseling, patients from Northeast China with primary male infertility (N = 22) and their fathers were investigated. Karyotype analysis was performed on peri...

Background and Aim: The Y-chromosome azoospermic factor (AZF) regions consist of genes whose specific roles and functions in spermatogenesis and fertility have not been completely clarified. Hence, recognition of the association between AZF microdeletions and male infertility has suggestions for the diagnosis, treatment, and genetic counseling. The main objective of the present study was invest...

Abdorrahman Rasekh Elham Konar Hamid Galehdari Hayat Mombeini Saeid Reza Khatami,

Background The androgen receptor (AR) gene contains a polymorphic trinucleotide repeat that encodes a polyglutamine tract in its N-terminal transactivation domain (NTAD). We aimed to find a correlation between the length of this polymorphic tract and azoospermia or oligozoospermia in infertile men living in Khuzestan, Iran. MaterialsAndMethods In this case-control study during two years till 20...

2015
Linda L. Banner

Male factor infertility often happened in patients with varicocele and genetic disorder. Microsurgical varicocele is the most effective and safe treatment option for male infertility in patients with varicocele. Y chromosome microdeletions and chromosomal abnormalities are the two types of genetic disorder. Now we could use commercial detection kits through PCR amplification of selected regions...

2015
Yiming Yuan

Male factor infertility often happened in patients with varicocele and genetic disorder. Microsurgical varicocele is the most effective and safe treatment option for male infertility in patients with varicocele. Y chromosome microdeletions and chromosomal abnormalities are the two types of genetic disorder. Now we could use commercial detection kits through PCR amplification of selected regions...

Journal: :journal of paramedical sciences 0
farhad shaveisi-zadeh department of medical genetics, school of medicine, shahid beheshti university of medical sciences, tehran, iran kimia davarian department of medical genetics, school of medicine, shahid beheshti university of medical sciences, tehran, iran abolfazl movafagh department of medical genetics, school of medicine, shahid beheshti university of medical sciences, tehran, iran reza mirfakhraie molecular pathology research center, imam reza hospital, kermanshah university of medical sciences, kermanshah, iran zahra rostami-far department of biochemistry, school of medicine, kermanshah university of medical sciences, kermanshah, iran reza alibakhshi department of biochemistry, school of medicine, kermanshah university of medical sciences, kermanshah, iran.

about 15% of couples have infertility problems, half of which are related to male factors. cytogenetic and genetic disorders account for about 10% of the male infertility problems. the aim of this study was to determine the frequency and types of both cytogenetic abnormalities and azf microdeletions of y chromosome in idiopathic azoospermic and oligospermic infertile men in west of iran. in thi...

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