نتایج جستجو برای: y chromosomal microdeletions

تعداد نتایج: 539215  

Journal: :International journal of advanced research 2023

Introduction: More than half of reproductive difficulties cannot be attributed to female characteristics. A number illnesses and conditions that may have an impact on male fertility been found via recent research. underlying diseases health issues, as well environmental variables, contribute infertility. For a sexually active couple, infertility is diagnosed after year unsuccessful attempting c...

Journal: :Fertility and sterility 2011
Megan M McGuire Wayne Bowden Natalie J Engel Hyo Won Ahn Ertug Kovanci Aleksandar Rajkovic

OBJECTIVE To analyze DNA from women with premature ovarian failure (POF) for genome-wide copy-number variations (CNVs), focusing on novel autosomal microdeletions. DESIGN Case-control genetic association study. SETTING Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas. PATIENT(S) Of 89 POF patients, eight experienced primary amenorrhea and 81 exhibited se...

Journal: :Journal of medical genetics 2000
F Petrij H G Dauwerse R I Blough R H Giles J J van der Smagt R Wallerstein P D Maaswinkel-Mooy C D van Karnebeek G J van Ommen A van Haeringen J H Rubinstein H M Saal R C Hennekam D J Peters M H Breuning

Rubinstein-Taybi syndrome (RTS) is a malformation syndrome characterised by facial abnormalities, broad thumbs, broad big toes, and mental retardation. In a subset of RTS patients, microdeletions, translocations, and inversions involving chromosome band 16p13.3 can be detected. We have previously shown that disruption of the human CREB binding protein (CREBBP or CBP) gene, either by these gross...

Journal: :Journal of laboratory medicine 2022

Abstract Since 2012, non-invasive prenatal testing (NIPT) using cell-free DNA from maternal plasma is applied all over the world as highly efficient first-line or contingent screening approach for trisomy 13, 18 and 21. With further technical development has expanded to other genetic conditions such sex chromosome anomalies (SCAs), rare autosomal trisomies (RATs), microdeletions/microduplicatio...

2015
Saeid Reza Khatami Hamid Galehdari Abdorrahman Rasekh Hayat Mombeini Elham Konar

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

Journal: :international journal of reproductive biomedicine 0
sevtap kilic beril yuksel nafiye yilmaz erkan ozdemir ufuk ozturk serdar ceylaner

background: the aim of this study was to determine the incidence of azf (azoospermia factor) microdeletions of the y chromosome in infertile turkish male patients and intracytoplasmic sperm injection (icsi) outcome of these patients. objective: this study was undertaken in order to evaluate the outcome of intracytoplasmic sperm injection (icsi) in infertil man with azf microdeletions materials ...

Background: Sexual reproduction affords the stands for conserving genetic characteristics and sequentially, genetic inconsistency may influence the capability to imitate. Materials and Methods: Research was conducted by subject in PubMed and other databases. Results: A significant number of genotypes have been related with infertility phenotypes and evaluation of precise genes in humans and mod...

2000
Fred Petrij Hans G Dauwerse Ruthann I Blough Rachel H Giles Jasper J van der Smagt Robert Wallerstein Petra D Maaswinkel-Mooy Clara D van Karnebeek Gert-Jan B van Ommen Arie van Haeringen Jack H Rubinstein Howard M Saal Raoul C M Hennekam Dorien J M Peters Martijn H Breuning

Rubinstein-Taybi syndrome (RTS) is a malformation syndrome characterised by facial abnormalities, broad thumbs, broad big toes, and mental retardation. In a subset of RTS patients, microdeletions, translocations, and inversions involving chromosome band 16p13.3 can be detected. We have previously shown that disruption of the human CREB binding protein (CREBBP or CBP) gene, either by these gross...

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