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Toplam kayıt 55, listelenen: 1-20
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
(Springer, 2004)
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)
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 ...
Allelic Variants in Genes Associated with Hereditary Periodic Fever Syndromes as Susceptibility Factors for Reactive Systemic AA Amyloidosis
(Nature Publishing Group, 2004)
We investigated the hypothesis that low-penetrance mutations in genes (TNFRSF1A, MEFV and NALP3/CIAS1) associated with hereditary periodic fever syndromes (HPFs) might be risk factors for AA amyloidosis among patients with ...
Identification Of Loss-Of-Function Mutations Of Slc35D1 In Patients With Schneckenbecken Dysplasia, But Not With Other Severe Spondylodysplastic Dysplasias Group Diseases
(Bmj Publishing Group, 2009)
Background: Schneckenbecken dysplasia (SBD) is an autosomal recessive lethal skeletal dysplasia that is classified into the severe spondylodysplastic dysplasias (SSDD) group in the international nosology for skeletal ...
Is the Novel Sckl3 at 14Q23 the Predominant Seckel Locus?
(Nature Publishing Group, 2003)
Seckel syndrome (SCKL) is a rare disease with wide phenotypic heterogeneity. A locus (SCKL1) has been identified at 3q and another (SCKL2) at 18p, both in single kindreds afflicted with the syndrome. We report here a novel ...
Cc2D2A Is Mutated In Joubert Syndrome And Interacts With The Ciliopathy-Associated Basal Body Protein Cep290
(Cell Press, 2008)
Joubert syndrome and related disorders (JSRD) are primarily autosomal-recessive conditions characterized by hypotonia, ataxia, abnormal eye movements, and intellectual disability with a distinctive mid-hindbrain malformation. ...
Ahi1 Mutations Cause Both Retinal Dystrophy and Renal Cystic Disease in Joubert Syndrome
(B M J Publishing Group, 2006)
Background: Joubert syndrome (JS) is an autosomal recessive disorder characterised by hypotonia, ataxia, mental retardation, altered respiratory pattern, abnormal eye movements, and a brain malformation known as the molar ...
Extensive Scanning Of The Calpain-3 Gene Broadens The Spectrum Of Lgmd2A Phenotypes
(B M J Publishing Group, 2005)
Background: The limb girdle muscular dystrophies ( LGMD) are a heterogeneous group of Mendelian disorders highlighted by weakness of the pelvic and shoulder girdle muscles. Seventeen autosomal loci have been so far identified ...
Evidence From Autoimmune Thyroiditis Of Skewed X-Chromosome Inactivation In Female Predisposition To Autoimmunity
(Nature Publishing Group, 2006)
The etiologic factors in the development of autoimmune thyroid diseases (AITDs) are not fully understood. We investigated the role of skewed X-chromosome inactivation (XCI) mosaicism in female predisposition to AITDs. One ...
Evaluation Of Prenatal-Onset Osteochondrodysplasias By Ultrasonography: A Retrospective And Prospective Analysis
(Wiley-Liss, 2008)
The osteochondrodysplasia or skeletal dysplasias are a heterogenous group of over 350 distinct disorders of skeletogenesis. Many manifest in the prenatal diagnosis. A retrospective analysis evaluated 1,500 cases referred ...
Gross Deletions Involving Ighm, Btk, Or Artemis: A Model For Genomic Lesions Mediated By Transposable Elements
(Cell Press, 2008)
Most genetic disruptions underlying human disease are microlesions, whereas gross lesions are rare with gross deletions being most frequently found (6%). Similar observations have been made in primary immunodeficiency ...