نتایج جستجو برای: genetic defect

تعداد نتایج: 700108  

Journal: :Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2007
Masahiro Aoyama Toshiro Sugimoto Tomonobu Yokono Masayoshi Sakaguchi Naoko Deji Takashi Uzu Atsunori Kashiwagi

great majority of our patients presented the same 419delG mutation that also produce a truncate protein, and may be comparable with the above defect. Lack of heart defects in the majority of our patients lessens the likelihood of the podocin protein defect being associated with cardiac defects. We suggest re-evaluation of the association, because it cannot be excluded that in the Frishberg stud...

2011
Frauke Stanke Tim Becker Vinod Kumar Silke Hedtfeld Christian Becker Harry Cuppens Stephanie Tamm Jennifer Yarden Ulrike Laabs Benny Siebert Luis Fernandez Milan Macek Dragica Radojkovic Manfred Ballmann Joachim Greipel Jean-Jacques Cassiman Thomas F Wienker Burkhard Tümmler

BACKGROUND The cystic fibrosis (CF) basic defect, caused by dysfunction of the apical chloride channel CFTR in the gastrointestinal and respiratory tract epithelia, has not been employed so far to support the role of CF modifier genes. METHODS Patients were selected from 101 families with a total of 171 F508del-CFTR homozygous CF patients to identify CF modifying genes. A candidate gene based...

Journal: :JSW 2014
Romi Satria Wahono Nanna Suryana Sabrina Ahmad

Software defect prediction has been an important research topic in the software engineering field, especially to solve the inefficiency and ineffectiveness of existing industrial approach of software testing and reviews. The software defect prediction performance decreases significantly because the data set contains noisy attributes and class imbalance. Feature selection is generally used in ma...

2003
ACHILLES TAKTIKOS

THIS paper describes an interesting association of retinoblastoma with mental defect, on some occasions further complicated by other pathological manifestations, especially in the central nervous system. As is well known, an association between abnormalities of this system and the eye, particularly the retina, occurs in many different pathological conditions, and there is very often an abnormal...

Journal: :CoRR 2012
Md. Tarek Habib Rahat Hossain Faisal M. Rokonuzzaman

The global market for textile industry is highly competitive nowadays. Quality control in production process in textile industry has been a key factor for retaining existence in such competitive market. Automated textile inspection systems are very useful in this respect, because manual inspection is time consuming and not accurate enough. Hence, automated textile inspection systems have been d...

Journal: :Brain research 2003
Douglas Wahlsten Pamela Metten John C Crabbe

A morphometric survey of brain size and forebrain commissures of 21 inbred mouse strains from the Jackson Laboratory was done with animals tested in two laboratories as part of the Mouse Phenome Project. Strain BTBR T/+ tf/tf was found to have 100% total absence of the corpus callosum as well as severe reduction of the hippocampal commissure in almost every animal, the most severe commissure de...

2012
Md. Tarek Habib Rahat Hossain Faisal M. Rokonuzzaman

The global market for textile industry is highly competitive nowadays. Quality control in production process in textile industry has been a key factor for retaining existence in such competitive market. Automated textile inspection systems are very useful in this respect, because manual inspection is time consuming and not accurate enough. Hence, automated textile inspection systems have been d...

Journal: :Zebrafish 2008
Keith A Hultman Alexander W Scott Stephen L Johnson

Zebrafish is gaining popularity as a vertebrate model for screening small molecules that affect specific phenotypes or genetic pathways. In this study, we present a targeted drug screen to identify drug modifiers of the melanocyte migration defect of a temperature-sensitive allele of the Kit receptor tyrosine kinase, kit(ts). We first test two candidate drugs, the phosphatidylinositol-3-kinase ...

Journal: :The British journal of ophthalmology 1964
A TAKTIKOS

THIS paper describes an interesting association of retinoblastoma with mental defect, on some occasions further complicated by other pathological manifestations, especially in the central nervous system. As is well known, an association between abnormalities of this system and the eye, particularly the retina, occurs in many different pathological conditions, and there is very often an abnormal...

Journal: :Journal of epidemiology and community health 1983
T Aro O P Heinonen L Saxén

The birth of a child with a reduction limb defect (RLD) was evaluated in relation to vaginal bleeding, threatened abortion, and other complications of pregnancy, placental weight, birth weight, family history, parental age, and the outcome of previous pregnancies. The material consisted of 453 cases of reduction limb defect and an equal number of non-malformed controls matched for time and plac...

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