Search Results - "DELMARCO, A"
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Analysis of the entire coding region of the cystic fibrosis transmembrane regulator gene in idiopathic pancreatitis
Published in Human mutation (01-08-2001)“…Many Cystic Fibrosis (CF) carriers have been detected testing some subjects with chronic pancreatititis for a limited number of mutations. The aim of this…”
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Nasal potential difference in cystic fibrosis patients presenting borderline sweat test
Published in The European respiratory journal (01-05-1997)“…The diagnosis of cystic fibrosis (CF) can be difficult if the sweat test and routine deoxyribonucleic acid (DNA) analysis are inconclusive. Under these…”
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Long Term Azithromycin in Cystic Fibrosis: Another Possible Mechanism of Action?
Published in Journal of chemotherapy (Florence) (01-08-2005)“…Azithromycin is used for the treatment of cystic fibrosis lung disease, although its mechanisms of action are not completely understood. Besides its…”
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Shwachman's Syndrome: Pathomorphosis and Long-term Outcome
Published in Journal of pediatric gastroenterology and nutrition (01-09-1999)“…BACKGROUND:Shwachman's syndrome is the second most common cause of inherited/congenital pancreatic insufficiency after cystic fibrosis. The main associated…”
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Nasal potential difference in congenital bilateral absence of the vas deferens
Published in American journal of respiratory and critical care medicine (01-09-1998)“…Congenital bilateral absence of the vas deferens (CBAVD) is supposed to be due to defective activity of the cystic fibrosis (CF) transmembrane conductance…”
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The genetic background of osteoporosis in cystic fibrosis: Association analysis with polymorphic markers in four candidate genes
Published in Journal of cystic fibrosis (01-12-2006)“…Reduced Bone Mass Density (BMD) is frequent in Cystic Fibrosis (CF). Potentially, other genes than the Cystic Fibrosis Transmembrane Conductance Regulator…”
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Translocation t(1;20)(q21;q13) in an azoospermic man
Published in Journal of medical genetics (01-04-1983)“…Translocations involving chromosomes 1 and 20 are uncommon. In the present report the authors describe a balanced translocation t(1; 20) (q21; q13) detected in…”
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Observations of growth plate development in achondroplastic (cn/cn) mice
Published in Reproduction, nutrition, développement (1981)“…The autosomal recessive gene for achondroplasia (cn) in the homozygous condition inhibits the growth of the cartilaginous skeleton in mice. Changes in the…”
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Histological and histochemical investigations of achondroplastic mice: a possible model of human achondroplasia
Published in Growth (Lakeland, Fla.) (01-09-1976)“…Histological and histochemical investigations of tibial epiphyses, costo-chondral junctions and caudal vertebrae of achondroplastic (cn) mice have shown that,…”
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