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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 ...
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 ...
Genetic Association Study Of Exfoliation Syndrome Identifies A Protective Rare Variant At Loxl1 And Five New Susceptibility Loci
(Nature Publishing Group, 2017)
Exfoliation syndrome (XFS) is the most common known risk factor for secondary glaucoma and a major cause of blindness worldwide. Variants in two genes, LOXL1 and CACNA1A, have previously been associated with XFS. To further ...
Single-Nucleotide Polymorphisms On The Ryd5 Gene In Nasal Polyposis
(Mary Ann Liebert, Inc, 2015)
Nasal polyposis (NP) is a chronic inflammatory disease. Several genes play major roles in the pathophysiology of the disease. We analyzed RYD5 gene polymorphisms to determine the effect of these variants or their genetic ...
The Association Between Coenzyme Q10 Concentrations in Follicular Fluid with Embryo Morphokinetics and Pregnancy Rate in Assisted Reproductive Techniques
(Springer/Plenum Publishers, 2017)
This study seeks to evaluate the association between follicular fluid (FF) coenzyme Q10 (CoQ10) levels, embryo morphokinetics, and pregnancy rate. Sixty infertile patients who underwent intracytoplasmic sperm injection ...
Genetic Evidence For Plasminogen As A Shared Genetic Risk Factor Of Coronary Artery Disease And Periodontitis
(Lippincott Williams & Wilkins, 2015)
Background-Genetic studies demonstrated the presence of risk alleles in the genes ANRIL and CAMTA1/VAMP3 that are shared between coronary artery disease (CAD) and periodontitis. We aimed to identify further shared genetic ...
De Novo Mutations In Smchd1 Cause Bosma Arhinia Microphthalmia Syndrome And Abrogate Nasal Development
(Nature Publishing Group, 2017)
Bosma arhinia microphthalmia syndrome (BAMS) is an extremely rare and striking condition characterized by complete absence of the nose with or without ocular defects. We report here that missense mutations in the epigenetic ...
