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Toplam kayıt 23, listelenen: 1-10
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 ...
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 ...
Recognition of Cigarette Brand Names and Logos by Primary Schoolchildren in Ankara, Turkey
(British Med Journal Publ Group, 1998)
Objective-To assess the smoking behaviour of primary schoolchildren and their ability to recognise brand names and logos of widely advertised cigarettes, compared with other commercial products intended for children. ...
A Cross-Over Medication Trial For Patients With Autosomal-Dominant Hypertension With Brachydactyly
(Blackwell Science Inc, 1998)
We examined a family with autosomal-dominant hypertension and brachydactyly from northeastern Turkey. The hypertension was defined as severe, resulting in stroke before age 50 years, featuring normal renin, aldosterone, ...
Mutations In The Chloride-Bicarbonate Exchanger Gene Ae1 Cause Autosomal Dominant But Not Autosomal Recessive Distal Renal Tubular Acidosis
(Natl Acad Sciences, 1998)
Primary distal renal tubular acidosis (dRTA) is characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. Kindreds showing either ...
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 ...
Activity of Amoxicillin/Clavulanate in Patients with Tuberculosis
(Univ Chicago Press, 1998)
Some beta-lactam antibiotics are active in vitro against Mycobacterium tuberculosis. There are anecdotal reports of successful treatment of tuberculosis caused by multiple-drug-resistant strains of M. tuberculosis with ...
Nutritional Assessment Of Children On Haemodialysis: Value Of Igf-I, Tnf-Alpha And Il-1 Beta
(Oxford Univ Press, 1998)
Background. Protein-energy malnutrition (PEM) is associated with increased morbidity and mortality in haemodialysis (HD) patients. Insulin-like growth factor I (IGF-I) has proved to be a sensitive marker of malnutrition, ...