Now showing items 1-10 of 55
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 ...
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 ...
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 ...
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 ...
Assessing the Severity of the Small Inframe Deletion Mutation in the Alpha-Subunit of Beta-Hexosaminidase A Found in the Turkish Population By Reproducing It in the More Stable Beta-Subunit
GM(2) gangliosidoses are a group of panethnic lysosomal storage diseases in which GM(2) ganglioside accumulates in the lysosome due to a defect in one of three genes, two of which encode the alpha- or beta-subunits of ...
Assignment of a Form of Congenital Muscular Dystrophy with Secondary Merosin Deficiency to Chromosome 1Q42
(Univ Chicago Press, 2000)
We have previously reported an autosomal recessive form of congenital muscular dystrophy, characterized by proximal girdle weakness, generalized muscle hypertrophy, rigidity of the spine, and contractures of the tendo ...
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 ...
Comparison Of Hcmv Ie And Ef-1 Alpha Promoters For The Stable Expression Of Beta-Subunit Of Hexosaminidase In Cho Cell Lines
(Springer/Plenum Publishers, 2006)