Search Results

Display Settings
Results per page: 10
Sort By: Relevance
Filter
  • 1-10 of  14 results for ""Bombieri, C.""

Your Filters

Geographic : italy Filter by : Author
Reset filters
Item request has been placed! ×
Item request cannot be made. ×
loading  Processing Request
Academic Journal

Epidemiology and a novel procedure for large scale analysis of CFTR rearrangements in classic and atypical CF patients: A multicentric Italian study

Subjects: *CYSTIC fibrosis; *EPIDEMIOLOGY; *POLYMERASE chain reactionITALY

  • Source: Journal of Cystic Fibrosis. Sep2008, Vol. 7 Issue 5, p347-351. 5p.

Record details

Read More Add to Saved list
×
Academic Journal

Health-related quality of life varies in different respiratory disorders: a multi-case control population based study.

  • Authors : Cappa V; Unit of Epidemiology and Medical Statistics, Department of Diagnostics and Public Health, University of Verona, c/o Istituti Biologici II, Strada Le Grazie 8, 37134, Verona, Italy.; Marcon A

Subjects: Quality of Life*; Asthma/Asthma/Asthma/*epidemiology ; Hypersensitivity/Hypersensitivity/Hypersensitivity/*epidemiology

  • Source: BMC pulmonary medicine [BMC Pulm Med] 2019 Feb 07; Vol. 19 (1), pp. 32. Date of Electronic Publication: 2019 Feb 07.Publisher: BioMed Central Country of Publication: England NLM ID: 100968563 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2466

Record details

Read More Add to Saved list
×
Academic Journal

The Italian scheme of External Quality Assessment for beta-thalassemia: genotyping and reporting results and testing strategies in a 5-year survey.

  • Authors : Tosto F; Department of Cell Biology and Neuroscience, National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.; Salvatore M

Subjects: DNA Mutational Analysis/DNA Mutational Analysis/DNA Mutational Analysis/*standards ; Genetic Testing/Genetic Testing/Genetic Testing/*standards ; beta-Thalassemia/beta-Thalassemia/beta-Thalassemia/*genetics

  • Source: Genetic testing and molecular biomarkers [Genet Test Mol Biomarkers] 2009 Feb; Vol. 13 (1), pp. 31-6.Publisher: Mary Ann Liebert, Inc Country of Publication: United States NLM ID: 101494210 Publication Model: Print Cited Medium: Internet ISSN:

Record details

Read More Add to Saved list
×
Academic Journal

The Italian External Quality Control Programme for cystic fibrosis molecular diagnosis: 4 years of activity.

  • Authors : Salvatore M; Department of Cell Biology and Neuroscience, National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.; Falbo V

Subjects: Quality Control*; Cystic Fibrosis/Cystic Fibrosis/Cystic Fibrosis/*diagnosis ; Molecular Diagnostic Techniques/Molecular Diagnostic Techniques/Molecular Diagnostic Techniques/*methods

  • Source: Clinical chemistry and laboratory medicine [Clin Chem Lab Med] 2007; Vol. 45 (2), pp. 254-60.Publisher: Walter De Gruyter Country of Publication: Germany NLM ID: 9806306 Publication Model: Print Cited Medium: Print ISSN: 1434-6621 (Print)

Record details

Read More Add to Saved list
×
Academic Journal

Highly preferential association of NonF508del CF mutations with the M470 allele.

  • Authors : Ciminelli BM; Department of Biology, University of Roma-Tor Vergata, Via della Ricerca Scientifica, s.n.c. 00133 Rome, and Cystic Fibrosis Centre, Hospital of Verona, Italy. ; Bonizzato A

Subjects: Cystic Fibrosis/Cystic Fibrosis/Cystic Fibrosis/*genetics ; Cystic Fibrosis Transmembrane Conductance Regulator/Cystic Fibrosis Transmembrane Conductance Regulator/Cystic Fibrosis Transmembrane Conductance Regulator/*genetics ; Genetic Testing/Genetic Testing/Genetic Testing/*methods

  • Source: Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society [J Cyst Fibros] 2007 Jan; Vol. 6 (1), pp. 15-22. Date of Electronic Publication: 2006 Jun 19.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101128966 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1569-1993

Record details

Read More Add to Saved list
×
Academic Journal

Frequency of large CFTR gene rearrangements in Italian CF patients.

Subjects: Gene Rearrangement*; Cystic Fibrosis/Cystic Fibrosis/Cystic Fibrosis/*genetics ; Cystic Fibrosis Transmembrane Conductance Regulator/Cystic Fibrosis Transmembrane Conductance Regulator/Cystic Fibrosis Transmembrane Conductance Regulator/*genetics

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2005 May; Vol. 13 (5), pp. 687-9.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print Cited Medium: Print ISSN: 1018-4813

Record details

Read Online Read More Add to Saved list
×
Academic Journal

Complement receptor 1 gene polymorphisms in sarcoidosis.

  • Authors : Zorzetto M; Laboratorio di Biochimica e Genetica, Clinica di Malattie dell'Apparato Respiratorio, Pavia, Italy.; Bombieri C

Subjects: Polymorphism, Genetic*; Receptors, Complement/Receptors, Complement/Receptors, Complement/*genetics ; Sarcoidosis/Sarcoidosis/Sarcoidosis/*genetics

  • Source: American journal of respiratory cell and molecular biology [Am J Respir Cell Mol Biol] 2002 Jul; Vol. 27 (1), pp. 17-23.Publisher: American Thoracic Society Country of Publication: United States NLM ID: 8917225 Publication Model: Print Cited Medium: Print ISSN:

Record details

Read More Add to Saved list
×
Academic Journal

Cystic fibrosis mutation testing in Italy.

  • Authors : Bombieri C; Section of Biology and Genetics, Department of Mother and Child, Biology and Genetics, University of Verona, Strada le Grazie, 8, I-37134 Verona, Italy.; Pignatti PF

Subjects: Genetic Testing* ; Neonatal Screening*; Cystic Fibrosis/Cystic Fibrosis/Cystic Fibrosis/*diagnosis

  • Source: Genetic testing [Genet Test] 2001 Fall; Vol. 5 (3), pp. 229-33.Publisher: Mary Ann Liebert, Inc Country of Publication: United States NLM ID: 9802546 Publication Model: Print Cited Medium: Print ISSN:

Record details

Read More Add to Saved list
×
Academic Journal

alpha 1-antitrypsin TAQ I polymorphism and alpha 1-antichymotrypsin mutations in patients with obstructive pulmonary disease.

  • Authors : Benetazzo MG; Istituto di Biologia e Genetica, Università degli Studi di Verona, Italy.; Gilè LS

Subjects: Polymorphism, Genetic*; Lung Diseases, Obstructive/Lung Diseases, Obstructive/Lung Diseases, Obstructive/*genetics ; alpha 1-Antichymotrypsin/alpha 1-Antichymotrypsin/alpha 1-Antichymotrypsin/*genetics

  • Source: Respiratory medicine [Respir Med] 1999 Sep; Vol. 93 (9), pp. 648-54.Publisher: Elsevier Country of Publication: England NLM ID: 8908438 Publication Model: Print Cited Medium: Print ISSN: 0954-6111 (Print)

Record details

Read More Add to Saved list
×
Academic Journal

Complete mutational screening of the CFTR gene in 120 patients with pulmonary disease.

Subjects: Mutation*; Cystic Fibrosis Transmembrane Conductance Regulator/Cystic Fibrosis Transmembrane Conductance Regulator/Cystic Fibrosis Transmembrane Conductance Regulator/*genetics ; Lung Diseases/Lung Diseases/Lung Diseases/*genetics

  • Source: Human genetics [Hum Genet] 1998 Dec; Vol. 103 (6), pp. 718-22.Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print Cited Medium: Print ISSN: 0340-6717 (Print)

Record details

Read More Add to Saved list
×
  • 1-10 of  14 results for ""Bombieri, C.""