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Four Novel Thymidine Phosphorylase Gene Mutations In Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome (Mngie) Patients
(Nature Publishing Group, 2003)
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) is a rare autosomal recessive neurologic disorder characterised by multiple mitochondrial DNA deletions. In this study, five Turkish IVINGIE patients ...
Mutations In Cgi-58, The Gene Encoding A New Protein Of The Esterase/Lipase/Thioesterase Subfamily, In Chanarin-Dorfman Syndrome
(Cell Press, 2001)
Chanarin-Dorfman syndrome (CDS) is a rare autosomal recessive form of nonbullous congenital ichthyosiform erythroderma (NCIE) that is characterized by the presence of intracellular lipid droplets in most tissues. We ...
Mutation Analysis In Turkish Phenylketonuria Patients
(British Med Journal Publ Group, 1993)
Forty-four classical PKU patients have been screened for various mutations. The newly identified IVS 10 splicing mutation was found in 32% of the mutant alleles and comprises 74.5% of the mutations that could be typed: ...
A Rare Galactosemia Complication: Vitreous Hemorrhage
(Springer-Verlag Berlin, 2012)
Galactosemia is a secondary glycosylation disorder characterized by galactose deficiency of glycoproteins and glycolipids. Abnormal glycosylation of coagulation factors and evidence of liver disease are associated with ...
Preparation of Endometrium for Frozen Embryo Replacement Cycles: A Systematic Review and Meta-Analysis
(Springer/Plenum Publishers, 2016)
The purpose of this study was to evaluate the best protocol to prepare endometrium for frozen embryo replacement (FER) cycles. This study is a systematic review and meta-analysis. Following PubMed and OvidSP search, a total ...
Sequential (Hfsh Plus Recfsh) Vs Homogenous (Hfsh Or Recfsh Alone) Stimulation: Clinical And Biochemical (Cumulus Cell Gene Expression) Aspects
(Springer/Plenum Publishers, 2014)
FSH is a key hormone in the regulation of follicular development. Together with the EGF network, these molecules mediate oocyte maturation and competence in preparation for the action of LH. FSH isoforms regulate distinct ...
Bi-Allelic Mutations In Klhl7 Cause A Crisponi/Ciss1-Like Phenotype Associated With Early-Onset Retinitis Pigmentosa
(Cell Press, 2016)
Crisponi syndrome (CS)/cold-induced sweating syndrome type 1 (CISS1) is a very rare autosomal-recessive disorder characterized by a complex phenotype with high neonatal lethality, associated with the following main clinical ...
Cnga3 Mutations In Hereditary Cone Photoreceptor Disorders
(Cell Press, 2001)
We recently showed that mutations in the CNGA3 gene encoding the alpha -subunit of the cone photoreceptor cGMP-gated channel cause autosomal recessive complete achromatopsia linked to chromosome 2q11. We now report the ...
Alx4 Dysfunction Disrupts Craniofacial and Epidermal Development
(Oxford Univ Press, 2009)
Genetic control of craniofacial morphogenesis requires a complex interaction of numerous genes encoding factors essential for patterning and differentiation. We present two Turkish families with a new autosomal recessive ...
Metalloprotease-Mediated Cleavage Of Plexind1 And Its Sequestration To Actin Rods In The Motoneuron Disease Spinal Muscular Atrophy (Sma)
(Oxford Univ Press, 2017)
Cytoskeletal rearrangement during axon growth is mediated by guidance receptors and their ligands which act either as repellent, attractant or both. Regulation of the actin cytoskeleton is disturbed in Spinal Muscular ...
