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Toplam kayıt 65, listelenen: 41-50
The Phenotypic And Molecular Genetic Spectrum Of Alstrom Syndrome In 44 Turkish Kindreds And A Literature Review Of Alstrom Syndrome In Turkey
(Nature Publishing Group, 2015)
Alstrom syndrome (ALMS) is an autosomal recessive disease characterized by multiple organ involvement, including neurosensory vision and hearing loss, childhood obesity, diabetes mellitus, cardiomyopathy, hypogonadism, and ...
Missense Mutation In The Atpase, Aminophospholipid Transporter Protein Atp8A2 Is Associated With Cerebellar Atrophy And Quadrupedal Locomotion
(Nature Publishing Group, 2013)
Cerebellar ataxia, mental retardation and dysequilibrium syndrome is a rare and heterogeneous condition. We investigated a consanguineous family from Turkey with four affected individuals exhibiting the condition. Homozygosity ...
Mutations In B3Galnt2 Cause Congenital Muscular Dystrophy And Hypoglycosylation Of Alpha-Dystroglycan
(Cell Press, 2013)
Mutations in several known or putative glycosyltransferases cause glycosylation defects in alpha-dystroglycan (alpha-DG), an integral component of the dystrophin glycoprotein complex. The hypoglycosylation reduces the ...
Accounting For Genetic Heterogeneity In Homozygosity Mapping: Application To Mendelian Susceptibility To Mycobacterial Disease
(B M J Publishing Group, 2011)
Introduction Genome-wide homozygosity mapping is a powerful method for locating rare recessive Mendelian mutations. However, statistical power decreases dramatically in the presence of genetic heterogeneity. Methods The ...
Molecular Screening Of Adamtsl2 Gene In 33 Patients Reveals The Genetic Heterogeneity Of Geleophysic Dysplasia
(B M J Publishing Group, 2011)
Background Geleophysic dysplasia (GD, OMIM 231050) is an autosomal recessive disorder characterised by short stature, small hands and feet, stiff joints, and thick skin. Patients often present with a progressive cardiac ...
Mutations In Atp6V1E1 Or Atp6V1A Cause Autosomal-Recessive Cutis Laxa
(Cell Press, 2017)
Defects of the V-type proton (H+) ATPase (V-ATPase) impair acidification and intracellular trafficking of membrane-enclosed compartments, including secretory granules, endosomes, and lysosomes. Whole-exome sequencing in ...
Novel Mutations In The Pc Gene In Patients With Type B Pyruvate Carboxylase Deficiency
(Springer-Verlag Berlin, 2013)
We have investigated seven patients with the type B form of pyruvate carboxylase (PC) deficiency. Mutation analysis revealed eight mutations, all novel. In a patient with exon skipping on cDNA analysis, we identified a ...
Pregnancy and Lactation Outcomes in a Turkish Patient With Lysinuric Protein Intolerance
(Springer-Verlag Berlin, 2014)
Maternal lysinuric protein intolerance (LPI) is associated with increased risk of anemia, toxemia, and retarded growth in fetus during pregnancy, and bleeding complications during delivery. There has been limited number ...
Bernard Lerer: Recipient of the 2014 Inaugural Werner Kalow Responsible Innovation Prize in Global Omics and Personalized Medicine (Pacific Rim Association For Clinical Pharmacogenetics)
(Mary Ann Liebert, Inc, 2014)
This article announces the recipient of the 2014 inaugural Werner Kalow Responsible Innovation Prize in Global Omics and Personalized Medicine by the Pacific Rim Association for Clinical Pharmacogenetics (PRACP): Bernard ...
Translating Biotechnology To Knowledge-Based Innovation, Peace, And Development? Deploy A Science Peace Corps-An Open Letter To World Leaders
(Mary Ann Liebert, Inc, 2014)
Scholarship knows no geographical boundaries. This science diplomacy and biotechnology journalism article introduces an original concept and policy petition to innovate the global translational science, a Science Peace ...