Search Results - "Macek jr, M."

Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13 by Zielenski, Julian, Bal, Jerzy, Cutting, Garry R, Macek, Milan, Palacio, Ana, Ferec, Claude, Larriba, Sara, Marshall, Bruce C, Krebsova, Alice, Markiewicz, Danuta, Casals, Teresa, Claustres, Mirreille, Durie, Peter, Tsui, Lap-Chee, Corey, Mary, Langfelder-Schwind, Elinor, Rozmahel, Richard, DeCelie-Germana, J, Nowakowska, Aleksandra, Mercier, Bernard, Estivill, Xavier, Aznarez, Isabel

“…Cystic fibrosis (CF) is a simple, autosomal recessive disorder caused by mutations in CFTR, encoding the CF transmembrane conductance regulator. The molecular…”
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Comparison of the clinical manifestations of cystic fibrosis in black and white patients by Hamosh, Ada, FitzSimmons, Stacey C., Macek, Milan, Knowles, Michael R., Rosenstein, Beryl J., Cutting, Garry R.

“…No large-scale studies of the incidence or disease severity of cystic fibrosis (CF) in black patients have been reported to date. In this study, the CF…”
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Recent developments in genetics and medically assisted reproduction: from research to clinical applications by Harper, J C, Aittomäki, K, Borry, P, Cornel, M C, de Wert, G, Dondorp, W, Geraedts, J, Gianaroli, L, Ketterson, K, Liebaers, I, Lundin, K, Mertes, H, Morris, M, Pennings, G, Sermon, K, Spits, C, Soini, S, van Montfoort, A P A, Veiga, A, Vermeesch, J R, Viville, S, Macek, Jr, M

“…Two leading European professional societies, the European Society of Human Genetics and the European Society for Human Reproduction and Embryology, have worked…”
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Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in allergic bronchopulmonary aspergillosis by MILLER, P. W, HAMOSH, A, MACEK, M. JR, GREENBERGER, P. A, MACLEAN, J, WALDEN, S. M, SLAVIN, R. G, CUTTING, G. R

“…The etiology of allergic bronchopulmonary aspergillosis (ABPA) is not well understood. A clinical phenotype resembling the pulmonary disease seen in cystic…”
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The origin of the major cystic fibrosis mutation (ΔF508) in European populations by Russo, M.P, Restagno, G, Nemeti, M, Ferec, C, Varon-Mateeva, R, Angelicheva, D, Dancheva, R, Romeo, G, Garnerone, S, Schwarz, M, Morral, N, Schwartz, M, Nunes, V, Reis, A, Kalaydjieva, L, Dallapiccola, B, Ferrari, M, Kadasi, L, Novelli, G, Macek, M, de Arce, M, Giménez, J, Desgeorges, M, Estivill, X, Kere, J, Claustres, M, Casals, T, Dahl, N, Anvret, M, Magnani, C, Bertranpetit, J

“…delta F508 is the most frequent cystic fibrosis (CF) mutation and accounts for approximately 70% of CF chromosomes worldwide. Three highly polymorphic…”
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Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene : a cystic fibrosis mutation of slavic origin common in Central and East Europe by DÖRK, T, MACEK, M. JR, ZEMKOVA, D, GINTER, E, PETROVA, N. V, IVASCHENKO, T, BARANOV, V, WITT, M, POGORZELSKI, A, BAL, J, ZEKANOWSKY, C, WAGNER, K, MEKUS, F, STUHRMANN, M, BAUER, I, SEYDEWITZ, H. H, NEUMANN, T, JAKUBICZKA, S, KRAUS, C, THAMM, B, NECHIPORENKO, M, LIVSHITS, L, MOSSE, N, TÜMMLER, B, TSUKERMAN, G, KADASI, L, RAVNIK-GLAVAC, M, GLAVAC, D, KOMEL, R, VOUK, K, KUCINSKAS, V, KRUMINA, A, TEDER, M, KOCHEVA, S, TZOUNTZOURIS, J, EFREMOV, G. D, ONAY, T, KIRDAR, B, MALONE, G, SCHWARZ, M, ZHAOQING ZHOU, FRIEDMAN, K. J, CARLES, S, CLAUSTRES, M, BOZON, D, CASALS, T, VERLINGUE, C, FEREC, C, TZETIS, M, KANAVAKIS, E, CUPPENS, H, BOMBIERI, C, PIGNATTI, P. F, SANGIUOLO, F, JORDANOVA, A, KUSIC, J, KREBSOVA, A, KOUDOVA, M, SAKMARYOVA, I. SR, VAVROVA, V

“…We report a large genomic deletion of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, viz., a deletion that is frequently observed in…”
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UGT1A7 polymorphisms in chronic pancreatitis: an example of genotyping pitfalls by te Morsche, R H M, Drenth, J P H, Truninger, K, Schulz, H-U, Kage, A, Landt, O, Verlaan, M, Rosendahl, J, Macek, M, Jansen, J B M J, Witt, H

“…UDP-glucuronosyltransferases (UGT) catalyze the glucuronidation of various compounds and thus inactivate toxic substrates. Genetic variations reducing the…”
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common haplotype of protamine 1 and 2 genes is associated with higher sperm counts by Tüttelmann, F, Křenková, P, Römer, S, Nestorovic, A.R, Ljujic, M, Štambergová, A, Macek Jr, M, Macek Sr, M, Nieschlag, E, Gromoll, J, Simoni, M

“…Sperm chromatin compaction in the sperm head is achieved when histones are replaced by protamines during spermatogenesis. Haploinsufficiency of the protamine 1…”
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A Mutation in the Cystic Fibrosis Transmembrane Conductance Regulator Gene Associated with Elevated Sweat Chloride Concentrations in the Absence of Cystic Fibrosis by Mickle, John E., Macek, Milan, Fulmer-Smentek, Stephanie B., Egan, Michelle M., Schwiebert, Erik, Guggino, William, Moss, Richard, Cutting, Garry R.

“…Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) have been shown to cause cystic fibrosis (CF) and male infertility due to…”
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Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring by Paděrová, J., Holubová, A., Simandlová, M., Puchmajerová, A., Vlčková, M., Malíková, M., Pourová, R., Vejvalková, S., Havlovicová, M., Šenkeříková, M., Ptáková, N., Drábová, J., Geryk, J., Maver, A., Křepelová, A., Macek Jr, M.

“…Kabuki syndrome (KS) is a dominantly inherited disorder mainly due to de novo pathogenic variation in KMT2D or KDM6A genes. Initially, a representative cohort…”
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Antineutrophil Cytoplasmic Autoantibodies (ANCA) in Children with Cystic Fibrosis by Šedivá, Anna, Bartůňková, Jiřina, Kolářová, Ivana, Hrušák, Ondřej, Vávrová, Věra, Macek jr, Milan, M-Lockwood, Christopher, Dunn, Austin C

“…Anti-neutrophil cytoplasmic antibodies (ANCA) represent a useful diagnostic tool in patients with small vessel vasculitis. Circulating ANCA specific for…”
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Polymorphisms in the mannose binding lectin gene affect the cystic fibrosis pulmonary phenotype by Yarden, J, Radojkovic, D, De Boeck, K, Macek, M, Zemkova, D, Vavrova, V, Vlietinck, R, Cassiman, J-J, Cuppens, H

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Association of tumour necrosis factor alpha variants with the CF pulmonary phenotype by Yarden, J, Radojkovic, D, De Boeck, K, Macek, M, Zemkova, D, Vavrova, V, Vlietinck, R, Cassiman, J-J, Cuppens, H

“…Background: The pulmonary phenotype in patients with cystic fibrosis (CF), even in those with the same CF transmembrane conductance regulator (CFTR) genotype,…”
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Polymorphisms of UDP-glucuronosyltransferase 1A7 are not involved in pancreatic diseases by Verlaan, M, Drenth, J P H, Truninger, K, Koudova, M, Schulz, H-U, Bargetzi, M, Künzli, B, Friess, H, Cerny, M, Kage, A, Landt, O, te Morsche, R H M, Rosendahl, J, Luck, W, Nickel, R, Halangk, J, Becker, M, Macek, M, Jansen, J B M J, Witt, H

“…Background: Xenobiotic mediated cellular injury is thought to play a major role in the pathogenesis of pancreatic diseases. Genetic variations that reduce the…”
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Possible association of the allele status of the CS.7/HhaI polymorphism 5' of the CFTR gene with postnatal female survival by MACEK, M. JR, MACEK, M. SR, KRAWCZAK, M, CUTTING, G. R, KREBSOVA, A, NASH, E, HAMOSH, A, REIS, A, VARON-MATEEVA, R, SCHMIDTKE, J, MAESTRI, N. E, SPERLING, K

“…Cystic fibrosis (CF) patients show a high degree of linkage disequilibrium between the CF transmembrane conductance regulator (CFTR) gene and polymorphisms 5'…”
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A mutation in CFTR produces different phenotypes depending on chromosomal background by Kiesewetter, S, Macek, M, Davis, C, Curristin, S. M, Chu, C.-S, Graham, C, Shrimpton, A. E, Cashman, S. M, Tsui, L.-C, Mickle, J, Amos, J, Highsmith, W. E, Shuber, A, Witt, D. R, Crystal, R. G, Cutting, G. R

“…Cystic fibrosis (CF) is caused by mutations in the CF transmembrane conductance regulator (CFTR) gene but the association between mutation (genotype) and…”
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Evaluation of high-resolution melting (HRM) for mutation scanning of selected exons of the CFTR gene by Krenková, P, Norambuena, P, Stambergová, A, Macek, Jr, M

“…Hereby we present evaluation of high-resolution melting for mutation scanning applied to the cystic fibrosis transmembrane conductance regulator gene. High…”
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Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75 by MACEK, M. JR, MACKOVA, A, HAMOSH, A, HILMAN, B. C, SELDEN, R. F, LUCOTTE, G, FRIEDMAN, K. J, KNOWLES, M. R, ROSENSTEIN, B. J, CUTTING, G. R

“…Cystic fibrosis (CF)--an autosomal recessive disorder caused by mutations in CF transmembrane conductance regulator (CFTR) and characterized by abnormal…”
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Mortality in hypertrophic cardiomyopathy is unrelated to genotype by Bonaventura, J, Rowin, E J, Chin, M T, Puchnerova, V, Polakova, E, Macek Jr, M, Koethe, B, Veselka, J, Maron, B J, Maron, M S

“…Abstract Background Hypertrophic cardiomyopathy (HCM) patients with a pathogenic variant are presumed to have worse prognosis than patients without a…”
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Identical intragenic microsatellite haplotype found in cystic fibrosis chromosomes bearing mutation G551D in Irish, English, Scottish, Breton and Czech patients by Cashman, S M, Patino, A, Martinez, A, Garcia-Delgado, M, Miedzybrodzka, Z, Schwarz, M, Shrimpton, A, Ferec, C, Raguenes, O, Macek, Jr, M

“…Mutation G551D of exon 11 of the cystic fibrosis transmembrane conductance regulator gene is one of the most common mutations in patients of European origin…”
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