Ara
Toplam kayıt 18, listelenen: 1-18
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: ...
Genetic Linkage Study Of Familial Mediterranean Fever (Fmf) To 16P13.3 And Evidence For Genetic Heterogeneity In The Turkish Population
(British Med Journal Publ Group, 1997)
Familial Mediterranean fever (FMF) is an autosomal recessive condition that is almost entirely restricted to the non-Askhenazi Jews, Arabs, Armenians, and Turks. Genetic linkage study of a large group of non-Turkish families ...
Heterogeneous Spectrum Of Mutations In The Fanconi Anaemia Group A Gene
(Stockton Press, 1999)
Fanconi anaemia (FA) is a genetically heterogeneous autosomal recessive disorder associated with chromosomal fragility, bone-marrow failure, congenital abnormalities and cancer. The gene for complementation group A (FAA), ...
Fish Studies In 45 Patients With Rubinstein-Taybi Syndrome: Deletions Associated With Polysplenia, Hypoplastic Left Heart And Death In Infancy
(Nature Publishing Group, 1999)
Rubinstein-Taybi syndrome (RTS) is a dominant Mendelian disorder characterised by mental retardation, a typical facies, broad thumbs and short stature. Previous reports indicated that 4-25% of RTS patients have a submicroscopic ...
Calpainopathy - A Survey of Mutations and Polymorphisms
(Cell Press, 1999)
Limb-girdle muscular dystrophy-type 2A (LGMD2A) is an autosomal recessive disorder characterized mainly by symmetrical and selective atrophy of the proximal limb muscles. It derives, from defects in the, human CAPN3 gene, ...
Assignment of the Muscle-Eye-Brain Disease Gene to 1P32-P34 by Linkage Analysis and Homozygosity Mapping
(Univ Chicago Press, 1999)
Muscle-eye-brain disease (MEB) is an autosomal recessive disease of unknown etiology characterized by severe mental retardation, ocular abnormalities, congenital muscular dystrophy, and a polymicrogyria-pachygyria-type ...
Mesoaxial Complete Syndactyly And Synostosis With Hypoplastic Thumbs: An Unusual Combination Or Homozygous Expression Of Syndactyly Type I?
(British Med Journal Publ Group, 1998)
Syndactyly type I is an autosomal dominant condition with complete or partial webbing between the third and fourth fingers or the second and third toes or both. We report here a previously undescribed phenotype of severe ...
Sequence Analysis and Homology Modeling Suggest That Primary Congenital Glaucoma on 2P21 Results From Mutations Disrupting Either the Hinge Region or The Conserved Core Structures of Cytochrome P4501B1
(Cell Press, 1998)
We recently reported three truncating mutations of the cytochrome P4501B1 gene (CYP1B1) in five families with primary congenital glaucoma (PCG) linked to the GLC3A locus on chromosome 2p21. This could be the first direct ...
Splicing Defects In The Ataxia-Telangiectasia Gene, Atm: Underlying Mutations And Consequences
(Cell Press, 1999)
Mutations resulting in defective splicing constitute a significant proportion (30/62 [48%]) of a new series of mutations in the ATM gene in patients with ataxia-telangiectasia (AT) that were detected by the protein-truncation ...
Identification Of A New Locus For A Peculiar Form Of Congenital Muscular Dystrophy With Early Rigidity Of The Spine, On Chromosome 1P35-36
(Univ Chicago Press, 1998)
Classical congenital muscular dystrophies (CMDs) are autosomal recessive neuromuscular disorders characterized by early onset of hypotonia and weakness, atrophy of limbs and trunk muscles, contractures, and dystrophic ...
The Fanconi Anemia Group E Gene, Fance, Maps to Chromosome 6P
(Univ Chicago Press, 1999)
Fanconi anemia (FA) is a genetically heterogeneous autosomal recessive disease with bone marrow failure and predisposition to cancer as major features, often accompanied by developmental anomalies. The cells of patients ...
A Novel Protein Tyrosine Phosphatase Gene is Mutated in Progressive Myoclonus Epilepsy of the Lafora Type (Epm2)
(Oxford Univ Press, 1999)
Progressive myoclonus epilepsy of the Lafora type or Lafora disease (EPM2; McKusick no. 254780) is an autosomal recessive disorder characterized by epilepsy, myoclonus, progressive neurological deterioration and glycogen-like ...
Localization of a Gene for Autosomal Recessive Distal Renal Tubular Acidosis with Normal Hearing (Rdrta2) to 7Q33-34
(Univ Chicago Press, 1999)
Failure of distal nephrons to excrete excess acid results in the "distal renal tubular acidoses" (dRTA). Early childhood features of autosomal recessive dRTA include severe metabolic acidosis with inappropriately alkaline ...
Pcr Based Mutation Screening of The Laminin Alpha 2 Chain Gene (Lama2): Application to Prenatal Diagnosis and Search for Founder Effects in Congenital Muscular Dystrophy
(British Med Journal Publ Group, 1998)
Classical congenital muscular dystrophy with merosin deficiency is caused by mutations in the laminin alpha 2 chain gene (LAMA2). Extended sequencing of the introns flanking the 64 LAMA2 exons was carried out and, based ...
Refinement of the Laminin Alpha 2 Chain Locus To Human Chromosome 6Q2 in Severe and Mild Merosin Deficient Congenital Muscular Dystrophy
(British Med Journal Publ Group, 1997)
About half of the children with classical congenital muscular dystrophy (CMD) show an absence in their skeletal muscle of laminin alpha 2 chain, one of the components of the extracellular matrix protein, merosin. Linkage ...
Predominance of Null Mutations in Ataxia-Telangiectasia
(Oxford Univ Press, 1996)
Ataxia-telangiectasia (A-T) is an autosomal recessive disorder involving cerebellar degeneration, immunodeficiency, chromosomal instability, radiosensitivity and cancer predisposition. The responsible gene, AIM, was recently ...
A Large Turkish Kindred With Syndactyly Type-II (Synpolydactyly) .2. Homozygous Phenotype
(British Med Journal Publ Group, 1995)
Syndactyly type II (synpolydactyly (SPD)) is an autosomal dominant condition with typical abnormalities of the distal parts of both upper and lower limbs. We report here a previously undescribed phenotypic feature of people ...
A Large Turkish Kindred with Syndactyly Type-II (Synpolydactyly) .1. Field Investigation, Clinical and Pedigree Data
(British Med Journal Publ Group, 1995)
A very large Turkish family with syndactyly type II (synpolydactyly (SPD)) is described, which originated from and is mainly concentrated in the village of Derbent, Afyon. The kindred consists of 425 subjects over seven ...