Works matching DE "CYSTIC fibrosis gene"

Results: 50

Comparison of the CFTR mutation spectrum in three cohorts of patients of Celtic origin from Brittany (France) and Ireland (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #629 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/629.pdf)

Published in:

Human Mutation, 2003, v. 22, n. 1, p. 105, doi. 10.1002/humu.9158

By:

Virginie Scotet;
David E. Barton;
James B.G. Watson;
Marie-Pierre Audrézet;
Trudi McDevitt;
Shirley McQuaid;
Cathy Shortt;
Marc De Braekeleer;
Claude Férec;
Cédric Le Maréchal

Publication type:

Article

Malignant proliferating onycholemmal cyst.

Published in:

Journal of Cutaneous Pathology, 1994, v. 21, n. 2, p. 183, doi. 10.1111/j.1600-0560.1994.tb00256.x

By:

Kamysz, Jeffery J.;
Fretzin, David F.

Publication type:

Article

Frequency of large CFTR gene rearrangements in Italian CF patients.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 5, p. 687, doi. 10.1038/sj.ejhg.5201387

By:

Bombieri, Cristina;
Bonizzato, Alberto;
Castellani, Carlo;
Assael, Baroukh M.;
Pignatti, Pier Franco

Publication type:

Article

The Leucocyte LI Protein: Identity with the Cystic Fibrosis Antigen and the Calcium--Binding MRP--8 and MRP-14 Macrophage Components.

Published in:

Scandinavian Journal of Immunology, 1988, v. 28, n. 2, p. 241, doi. 10.1111/j.1365-3083.1988.tb02437.x

By:

Andersson, K. B.;
Sletten, K.;
Berntzen, H. B.;
Dale, I.;
Brandtzaeg, P.;
Jellum, E.;
Fagerhol, M. K.

Publication type:

Article

Fixing cystic fibrosis by correcting CFTR domain assembly.

Published in:

Journal of Cell Biology, 2012, v. 199, n. 2, p. 199, doi. 10.1083/jcb.201208083

By:

Okiyoneda, Tsukasa;
Lukacs, Gergely L.

Publication type:

Article

PHARMACOTHERAPY OF THE ION TRANSPORT DEFECT IN CYSTIC FIBROSIS.

Published in:

Clinical & Experimental Pharmacology & Physiology, 2001, v. 28, n. 11, p. 857, doi. 10.1046/j.1440-1681.2001.03541.x

By:

Kunzelmann, Karl;
Mall, Marcus

Publication type:

Article

Analysis of 31 CFTR mutations by polymerase chain reaction/oligonucleotide ligation assay in a pilot screening of 4476 newborns for cystic fibrosis.

Published in:

Journal of Medical Screening, 1999, v. 6, n. 2, p. 67, doi. 10.1136/jms.6.2.67

By:

Gasparini, P.;
Arbustini, E.;
Restagno, G.;
Zelante, L.;
Stanziale, P.;
Gatta, L.;
Sbaiz, L.;
Sedita, A. M.;
Banchieri, N.;
Sapone, L.;
Fiorucci, G. C.;
Brinson, E.;
Shulse, E.;
Rappaport, E.;
Fortina, P.

Publication type:

Article

Emergence of Respiratory Streptococcus agalactiae Isolates in Cystic Fibrosis Patients.

Published in:

PLoS ONE, 2009, v. 4, n. 2, p. 1, doi. 10.1371/journal.pone.0004650

By:

Eickel, Vera;
Kahl, Barbara;
Reinisch, Beatrice;
Dübbers, Angelika;
Küster, Peter;
Brandt, Claudia;
Spellerberg, Barbara

Publication type:

Article

Comprehensive genotyping reveals novel CFTR variants in cystic fibrosis patients from the Russian Federation.

Published in:

Clinical Genetics, 2019, v. 95, n. 3, p. 444, doi. 10.1111/cge.13477

By:

Petrova, Nika V.;
Marakhonov, Andrey V.;
Vasilyeva, Tatiana A.;
Kashirskaya, Natalya Y.;
Ginter, Evgeny K.;
Kutsev, Sergey I.;
Zinchenko, Rena A.

Publication type:

Article

New therapeutic approaches for cystic fibrosis lung disease.

Published in:

Journal of the Royal Society of Medicine (Supplement), 2002, v. 95, n. 41, p. 58

By:

Davies, Jane C.

Publication type:

Article

Cystic fibrosis gene update.

Published in:

Journal of the Royal Society of Medicine (Supplement), 1994, v. 87, n. 21, p. 2

By:

Cuthbert, A.

Publication type:

Article

The gene defect in cystic fibrosis and clinical applications of the knowledge.

Published in:

Journal of the Royal Society of Medicine (Supplement), 1992, v. 85, n. 19, p. 6

By:

Super, Maurice

Publication type:

Article

The biochemical defect in cystic fibrosis.

Published in:

Journal of the Royal Society of Medicine (Supplement), 1992, v. 85, n. 19, p. 2

By:

Cuthbert, Alan W.

Publication type:

Article

Cystic fibrosis: the new genetics.

Published in:

Journal of the Royal Society of Medicine (Supplement), 1991, v. 84, n. 18, p. 2

By:

Brock, D. J. H.;
Shrimpton, A. E.;
Jones, C.;
McIntosh, I.

Publication type:

Article

Cystic Fibrosis Gene Mutations as a Cause of Chronic Pancreatitis.

Published in:

1999

By:

Mack, D. R.;
Thompson, Jon S.

Publication type:

Book Review

The Hypertonic Environment Differentially Regulates Wild-type CFTR and TNR-CFTR Chloride Channels.

Published in:

Cellular Physiology & Biochemistry (Karger AG), 2010, v. 26, n. 4/5, p. 577, doi. 10.1159/000322325

By:

Lassance-Soares, Roberta M.;
Cheng, Jie;
Krasnov, Kristina;
Cebotaru, Liudmila;
Cutting, Garry R.;
Souza-Menezes, Jackson;
Morales, Marcelo M.;
Guggino, William B.

Publication type:

Article

Establishment and Characterization of a Novel Polarized MDCK Epithelial Cellular Model for CFTR Studies.

Published in:

Cellular Physiology & Biochemistry (Karger AG), 2005, v. 16, n. 4-6, p. 281, doi. 10.1159/000089857

By:

Mendes, Filipa;
Wakefield, John;
Bachhuber, Tanja;
Barroso, Margarida;
Bebok, Zsuzsa;
Penque, Deborah;
Kunzelmann, Karl;
Amaral, Margarida D.

Publication type:

Article

Homozygosity of the cystic fibrosis () gene allele IVS8-(5T) in a Tamil male with congenital bilateral absence of the vas deferens (CBAVD).

Published in:

Molecular Human Reproduction, 2000, v. 6, n. 7, doi. 10.1093/molehr/6.7.669

By:

Fokstuen, S.;
Balakrishnan, J.;
Kotzot, D.;
Hergersberg, M.;
Hobi, Ch.

Publication type:

Article

Diagnosing genetic disease. Screening for cystic fibrosis transmembrane conductance regulator gene mutations in men included in an intracytoplasmic sperm injection programme.

Published in:

Molecular Human Reproduction, 1999, v. 5, n. 6, p. 587, doi. 10.1093/molehr/5.6.587

By:

Boucher, D.;
Creveaux, I.;
Grizard, G.;
Jimenez, C.;
Hermabessière, J.;
Dastugue, B.

Publication type:

Article

CFTR gene and male fertility.

Published in:

Molecular Human Reproduction, 1998, v. 4, n. 2, doi. 10.1093/molehr/4.2.107

By:

Wong, PYD

Publication type:

Article

A complex intronic enhancer regulates expression of the CFTR gene by direct interaction with the promoter.

Published in:

Journal of Cellular & Molecular Medicine, 2009, v. 13, n. 4, p. 680, doi. 10.1111/j.1582-4934.2008.00621.x

By:

Ott, Christopher J.;
Suszko, Magdalena;
Blackledge, Neil P.;
Wright, Jane E.;
Crawford, Gregory E.;
Harris, Ann

Publication type:

Article

Incidence, prevalence, etiology, and prognosis of first-time chronic pancreatitis in young patients: a nationwide cohort study.

Published in:

2010

By:

Joergensen, Maiken;
Brusgaard, Klaus;
Crüger, Dorthe Gylling;
Gerdes, Anne-Marie;
Schaffalitzky de Muckadell, Ove B.;
Crüger, Dorthe Gylling;
de Muckadell, Ove B Schaffalitzky

Publication type:

journal article

Cystic fibrosis in the Brazilian population: DF 508 mutation and KM-19/XV-2C haplotype distribution.

Published in:

Human Biology, 1997, v. 69, n. 4, p. 499

By:

Raskin, Salmo;
Phillips, John A.

Publication type:

Article

Cystic Fibrosis and Heterozygote Fitness.

Published in:

JAMA: Journal of the American Medical Association, 1990, v. 264, n. 22, p. 2967

By:

Wilford, Benjamin

Publication type:

Article

Cystic fibrosis and heterozygote fitness.

Published in:

1990

By:

Johnson, Richard B.;
Johnson, R B

Publication type:

Letter

Attitudes and opinions of pregnant women who are not offered cystic fibrosis carrier screening.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 7, p. 859, doi. 10.1038/ejhg.2013.267

By:

Ioannou, Liane;
Massie, John;
Lewis, Sharon;
Collins, Veronica;
McClaren, Belinda;
Delatycki, Martin B

Publication type:

Article

Initial interrogation, confirmation and fine mapping of modifying genes: STAT3, IL1B and IFNGR1 determine cystic fibrosis disease manifestation.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 12, p. 1281, doi. 10.1038/ejhg.2011.129

By:

Labenski, Heike;
Hedtfeld, Silke;
Becker, Tim;
Tümmler, Burkhard;
Stanke, Frauke

Publication type:

Article

Erkek infetilitesinde genetik değerlendirme.

Published in:

Medical Journal of Suleyman Demirel University, 2007, v. 14, n. 4, p. 48

By:

Koşar, Pınar Aslan;
Özçelik, Nurten

Publication type:

Article

Particles induce apical plasma membrane enlargement in epithelial lung cell line depending on particle surface area dose.

Published in:

Respiratory Research, 2009, v. 10, p. 1, doi. 10.1186/1465-9921-10-22

By:

Brandenberger, Christina;
Rothen-Rutishauser, Barbara;
Blank, Fabian;
Gehr, Peter;
Mühlfeld, Christian

Publication type:

Article

A Novel Chimeric Adenoassociated Virus 2/Human Bocavirus 1 Parvovirus Vector Efficiently Transduces Human Airway Epithelia.

Published in:

Molecular Therapy, 2013, v. 21, n. 12, p. 2181, doi. 10.1038/mt.2013.92

By:

Yan, Ziying;
Keiser, Nicholas W;
Song, Yi;
Deng, Xuefeng;
Cheng, Fang;
Qiu, Jianming;
Engelhardt, John F

Publication type:

Article

In Utero Efficacy of Cystic Fibrosis Gene Therapy: Difficult Studies, Positive or Negative.

Published in:

Molecular Therapy, 2008, v. 16, n. 5, p. 806, doi. 10.1038/mt.2008.53

By:

Flotte, Terence R.

Publication type:

Article

Optimizing Aerosol Gene Delivery and Expression in the Ovine Lung.

Published in:

Molecular Therapy, 2007, v. 15, n. 2, p. 348, doi. 10.1038/sj.mt.6300058

By:

McLachlan, Gerry;
Baker, Alison;
Tennant, Peter;
Gordon, Catherine;
Vrettou, Christina;
Renwick, Louise;
Blundell, Richard;
Cheng, Seng H.;
Scheule, Ron K;
Davies, Lee;
Painter, Hazel;
Coles, Rebecca L.;
Lawton, Anna E.;
Marriott, Chris;
Gill, Deborah R.;
Hyde, Stephen C.;
Griesenbach, Uta;
Alton, Eric W. F. W.;
Boyd, A. Christopher;
Porteous, David J.

Publication type:

Article

Connections Between Genetics and Clinical Data: Role of MCP-1, CFTR, and SPINK-1 in the Setting of Acute, Acute Recurrent, and Chronic Pancreatitis.

Published in:

American Journal of Gastroenterology (Springer Nature), 2010, v. 105, n. 1, p. 199, doi. 10.1038/ajg.2009.611

By:

Cavestro, Giulia Martina;
Zuppardo, Raffaella Alessia;
Bertolini, Simone;
Sereni, Giuliana;
Frulloni, Luca;
Okolicsanyi, Stefano;
Calzolari, Cristina;
Singh, Satish K.;
Sianesi, Mario;
Del Rio, Paolo;
Leandro, Gioacchino;
Franzè, Angelo;
Di Mario, Francesco

Publication type:

Article

Pancreatitis Risk in Primary Hyperparathyroidism: Relation to Mutations in the SPINK1 Trypsin Inhibitor (N34S) and the Cystic Fibrosis Gene.

Published in:

American Journal of Gastroenterology (Springer Nature), 2008, v. 103, n. 2, p. 368, doi. 10.1111/j.1572-0241.2007.01695.x

By:

Felderbauer, Peter;
Karakas, Elias;
Fendrich, Volker;
Bulut, Kerem;
Horn, Tilman;
Lebert, Rainer;
Holland-Letz, Tim;
Schmitz, Frank;
Bartsch, Detlef;
Schmidt, Wolfgang E.

Publication type:

Article

Informing policy for the Australian context – Costs, outcomes and cost savings of prenatal carrier screening for cystic fibrosis.

Published in:

Australian & New Zealand Journal of Obstetrics & Gynaecology, 2010, v. 50, n. 1, p. 51, doi. 10.1111/j.1479-828X.2009.01111.x

By:

MAXWELL, Susannah;
BRAMELD, Kate;
YOUNGS, Leanne;
GEELHOED, Elizabeth;
O’LEARY, Peter

Publication type:

Article

Targeted Therapy for Cystic Fibrosis.

Published in:

Molecular Diagnosis & Therapy, 2006, v. 10, n. 5, p. 293, doi. 10.1007/BF03256204

By:

Rubenstein, Ronald C.

Publication type:

Article

Simultaneous Single-Cell Detection of Two Mutations for Cystic Fibrosis.

Published in:

Journal of Assisted Reproduction & Genetics, 2000, v. 17, n. 9, p. 534, doi. 10.1023/A:1009450009932

By:

Drury, K.C.;
Liu, M.C.

Publication type:

Article

The secret life of CFTR as a calcium-activated chloride channel.

Published in:

Journal of Physiology, 2013, v. 591, n. 21, p. 5273, doi. 10.1113/jphysiol.2013.261909

By:

Billet, Arnaud;
Hanrahan, John W.

Publication type:

Article

Revisiting the mouse lung model for CF.

Published in:

2004

By:

Boyd, A. C.;
Porteous, D. J.

Publication type:

Editorial

Enhanced recognition of cystic fibrosis W1282X DNA point mutation by chiral peptide nucleic acid probes by a surface plasmon resonance biosensor.

Published in:

Journal of Molecular Recognition, 2004, v. 17, n. 1, p. 76, doi. 10.1002/jmr.646

By:

Roberto Corradini;
Giordana Feriotto;
Stefano Sforza;
Rosangela Marchelli

Publication type:

Article

Interactions Between Secondhand Smoke and Genes That Affect Cystic Fibrosis Lung Disease.

Published in:

JAMA: Journal of the American Medical Association, 2008, v. 299, n. 4, p. 417, doi. 10.1001/jama.299.4.417

By:

Collaco, J. Michael;
Vanscoy, Lori;
Bremer, Lindsay;
McDougal, Kathryn;
Blackman, Scott M.;
Bowers, Amanda;
Naughton, Kathleen;
Jennings, Jacky;
Ellen, Jonathan;
Cutting, Garry R.

Publication type:

Article

Polyvariant mutant CFTR genes in patients with chronic pancreatitis.

Published in:

Clinical Genetics, 1999, v. 56, n. 5, p. 401, doi. 10.1034/j.1399-0004.1999.560509.x

By:

Arduino, C;
Gallo, M;
Brusco, A;
Garnerone, S;
Piana, Mr;
Di Maggio, S;
Gerbino Promis, G;
Ferrone, M;
Angeli, A;
Gaia, E

Publication type:

Article

Identification of the 5T-12TG allele of the cystic fibrosis transmembrane conductance regulator gene in hypertrypsinaemic newborns.

Published in:

Acta Paediatrica, 2006, v. 95, n. 7, p. 871, doi. 10.1080/08035250500516649

By:

Padoan, Rita;
Corbetta, Carlo;
Bassotti, Alessandra;
Seia, Manuela

Publication type:

Article

Reliability of sweat-testing by the Macroduct(r) collection method combined with conductivity analysis in comparison with the classic Gibson and Cooke technique.

Published in:

Acta Paediatrica, 2000, v. 89, n. 8, doi. 10.1080/080352500750043378

By:

Mastella, G;
Di Cesare, G;
Borruso, A;
Menin, L;
Zanolla, L

Publication type:

Article

Survey of CF mutations in the clinical laboratory.

Published in:

BMC Clinical Pathology, 2002, v. 2, p. 4, doi. 10.1186/1472-6890-2-4

By:

Huber, Klaus Roland;
Mirkovic, Borka;
Nersesian, Rhea;
Myers, Angela;
Saiki, Randall;
Bauer, Kurt

Publication type:

Article

CISTIČNA FIBROZA: VARIJABILNOST KLINIČKE SLIKE.

Published in:

Pedijatrija Danas: Pediatrics Today, 2008, v. 4, n. 1, p. 23

By:

Tješić-Drinković, Dorian;
Tješić-Drinković, Duška;
Kelečić, Jadranka;
Votava-Raić, Ana

Publication type:

Article

Analysis of common CFTR polymorphisms 5T, M470V, and R75Q in healthy Serbian population.

Published in:

Russian Journal of Genetics, 2006, v. 42, n. 7, p. 821, doi. 10.1134/S1022795406070192

By:

Nikolic, A.;
Divac, A.;
Stankovic, M.;
Dinic, J.;
Tomic, B.;
Ljujic, M.

Publication type:

Article

DOES LACK OF Cftr GENE LEAD TO DEVELOPMENTAL ABNORMALITIES IN THE LUNG?

Published in:

Experimental Lung Research, 2000, v. 26, n. 7, p. 551, doi. 10.1080/019021400750048090

By:

Geiser, Marianne;
Zimmermann, Beat;
Baumann, Markus;
Cruz-Orive, Luis M.

Publication type:

Article

Tacrolimus has less fibrogenic potential than cyclosporin A in a model of renal ischaemia–reperfusion injury.

Published in:

British Journal of Surgery, 2000, v. 87, n. 11, p. 1563, doi. 10.1046/j.1365-2168.2000.01576.x

By:

Jain, S.;
Bicknell, G. R.;
Nicholson, M. L.

Publication type:

Article

In vitro correction of cystic fibrosis epithelial cell lines by small fragment homologous replacement (SFHR) technique.

Published in:

BMC Medical Genetics, 2002, v. 3, p. 1

By:

Sangiuolo, Federica;
Bruscia, Emanuela;
Serafino, Annalucia;
Nardone, Anna Maria;
Bonifazi, Emanuela;
Lais, Monica;
Gruenert, Dieter C.;
Novelli, Giuseppe

Publication type:

Article