Konu "Genetics & Heredity" için Cerrahi Tıp Bilimleri Bölümü listeleme
Toplam kayıt 14, listelenen: 1-14
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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 ... -
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 ... -
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 ... -
Cpg Methylation In The Fhit Regulatory Region: Relation To Fhit Expression In Murine Tumors
(Nature Publishing Group, 2004)To determine if: (1) 5' CpG island methylation is related to Fhit inactivation; (2) there are tumor or carcinogen-specific methylation patterns, we examined 35 CpG sites in the promoter, exon and intron 1 of the mouse Fhit ... -
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 ... -
Decreased Catalytic Activity And Altered Activation Properties Of Pde6C Mutants Associated With Autosomal Recessive Achromatopsia
(Oxford Univ Press, 2011)Mutations in the gene encoding the catalytic subunit of the cone photoreceptor phosphodiesterase (PDE6C) have been recently reported in patients with autosomal recessive inherited achromatopsia (ACHM) and early-onset cone ... -
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 ... -
Meta-Analysis Of 13 Genome Scans Reveals Multiple Cleft Lip/Palate Genes With Novel Loci On 9Q21 And 2Q32-35
(Univ Chicago Press, 2004)Isolated or nonsyndromic cleft lip with or without cleft palate (CL/P) is a common birth defect with a complex etiology. A 10-cM genome scan of 388 extended multiplex families with CL/P from seven diverse populations (2,551 ... -
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 ... -
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 ... -
Worldwide Distribution And Broader Clinical Spectrum Of Muscle-Eye-Brain Disease
(Oxford Univ Press, 2003)Muscle-eye-brain disease (MEB), an autosomal recessive disorder prevalent in Finland, is characterized by congenital muscular dystrophy, brain malformation and ocular abnormalities. Since the MEB phenotype overlaps ... -
X-Linked Recessive Inheritance Of Radial Ray Deficiencies In A Family With Four Affected Males
(Nature Publishing Group, 2001)Radial ray deficiencies are frequently associated with additional clinical anomalies and have a heterogeneous aetiology. X-linked forms are extremely rare. We report a family in which four male relatives show bilateral ...
