نتایج جستجو برای: yq microdeletion

تعداد نتایج: 1741  

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 ...

2013
Martin Stofanko Higgor Gonçalves-Dornelas Pricila Silva Cunha Heloísa B. Pena Angela M. Vianna-Morgante Sérgio Danilo Junho Pena

Because of economic limitations, the cost-effective diagnosis of patients affected with rare microdeletion or microduplication syndromes is a challenge in developing countries. Here we report a sensitive, rapid, and affordable detection method that we have called Microdeletion/Microduplication Quantitative Fluorescent PCR (MQF-PCR). Our procedure is based on the finding of genomic regions with ...

Journal: :European Journal of Medical Genetics 2013

Journal: :Genomics 1990
E M Fisher T Alitalo S W Luoh A de la Chapelle D C Page

Several categories of human X-Y homologous DNA sequences have been recognized. We report that a locus (DXYS77) approximately 14 kb distal to the pseudoautosomal boundary (PAB) is 93% identical in nucleotide sequence to a locus (DYS148) on the long arm of the Y chromosome (Yq). Within this segment of pseudoautosomal/Yq homology we identified a member of a family of repeats that are concentrated ...

2010
Alistair T. Pagnamenta Elena Bacchelli Maretha V. de Jonge Ghazala Mirza Thomas S. Scerri Fiorella Minopoli Andreas Chiocchetti Kerstin U. Ludwig Per Hoffmann Silvia Paracchini Ernesto Lowy Denise H. Harold Jade A. Chapman Sabine M. Klauck Fritz Poustka Renske H. Houben Wouter G. Staal Roel A. Ophoff Michael C. O'Donovan Julie Williams Markus M. Nöthen Gerd Schulte-Körne Panos Deloukas Jiannis Ragoussis Anthony J. Bailey Elena Maestrini Anthony P. Monaco

BACKGROUND Autism spectrum disorders (ASDs) are characterized by social, communication, and behavioral deficits and complex genetic etiology. A recent study of 517 ASD families implicated DOCK4 by single nucleotide polymorphism (SNP) association and a microdeletion in an affected sibling pair. METHODS The DOCK4 microdeletion on 7q31.1 was further characterized in this family using QuantiSNP a...

Journal: :Journal of Algebra 2021

We classify irreducible representations of finite W-algebra for the queer Lie superalgebra Q(n) associated with principal nilpotent coadjoint orbits. use this classification and our previous results to obtain a finite-dimensional super Yangian YQ(1).

2013
P. N. Barbhuiya R. Mahanta

Specific genetic marker based molecular study of the azfa & azfd region microdeletion in infertile cases of northeast india. a b c d e Introduction: The first cases of Y chromosome microdeletions and male infertility were reported in 1992 and many case series have subsequently been reported from various parts of the world. A very few studies have been done involving the patients of NorthEast In...

Journal: :Molecular medicine reports 2014
Wei Lv Shuyu Wang

Chromosomal abnormalities and the 22q11 microdeletion are implicated in congenital heart defects (CHDs). This study was designed to detect these abnormalities in fetuses and determine the effect of genetic factors on CHD etiology. Between January 2010 and December 2011, 113 fetuses with CHD treated at the Beijing Obstetrics and Gynecology Hospital were investigated, using chromosome karyotyping...

2012
Bogdan Grzywacz

Finally the paper deals with the solution of the following problem: Let signals y1(iT), ..., yq(iT) (elements of output vector y(iT)) be responses of MIMO discretetime system to the input signals u1(iT),..,uq(iT) (elements of input vector u(iT)). Determine discrete-time excitations uA1,......,uAq (elements of vector uA) scaling the system responses to the required forms y1(iA-1T),...,yq(iA-1T),...

Journal: :Journal of Science and Arts 2020

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