Found: 31
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Negative sweat test in hypertrypsinaemic infants with cystic fibrosis carrying rare CFTR mutations.
- Published in:
- 2002
- By:
- Publication type:
- journal article
Application of pyrosequencing to the identification of sequence variations in the cystic fibrosis transmembrane conductance regulator gene.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2009, v. 47, n. 9, p. 1051, doi. 10.1515/CCLM.2009.262
- By:
- Publication type:
- Article
High-sensitive microarray substrates specifically designed to improve sensitivity for the identification of fetal paternally inherited sequences in maternal plasma.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2009, v. 47, n. 7, p. 818, doi. 10.1515/CCLM.2009.187
- By:
- Publication type:
- Article
Why, when and how to investigate primary ciliary dyskinesia in adult patients with bronchiectasis.
- Published in:
- Multidisciplinary Respiratory Medicine, 2018, v. 13, n. 1, p. N.PAG, doi. 10.1186/s40248-018-0143-6
- By:
- Publication type:
- Article
When and how ruling out cystic fibrosis in adult patients with bronchiectasis.
- Published in:
- Multidisciplinary Respiratory Medicine, 2018, v. 13, n. 1, p. N.PAG, doi. 10.1186/s40248-018-0142-7
- By:
- Publication type:
- Article
The Italian registry of pulmonary non-tuberculous mycobacteria - IRENE: the study protocol.
- Published in:
- Multidisciplinary Respiratory Medicine, 2018, v. 13, n. 1, p. N.PAG, doi. 10.1186/s40248-018-0141-8
- By:
- Publication type:
- Article
Next-generation sequencing and a novel COL3A1 mutation associated with vascular Ehlers-Danlos syndrome with severe intestinal involvement: a case report.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
Gene Mutation in MicroRNA Target Sites of CFTR Gene: A Novel Pathogenetic Mechanism in Cystic Fibrosis?
- Published in:
- PLoS ONE, 2013, v. 8, n. 3, p. 1, doi. 10.1371/journal.pone.0060448
- By:
- Publication type:
- Article
Mental health and the effects on methylation of stress-related genes in front-line versus other health care professionals during the second wave of COVID-19 pandemic: an Italian pilot study.
- Published in:
- European Archives of Psychiatry & Clinical Neuroscience, 2023, v. 273, n. 2, p. 347, doi. 10.1007/s00406-022-01472-y
- By:
- Publication type:
- Article
Two ABCB4 point mutations of strategic NBD-motifs do not prevent protein targeting to the plasma membrane but promote MDR3 dysfunction.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 5, p. 633, doi. 10.1038/ejhg.2013.214
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- Publication type:
- Article
Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3).
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 12, p. 1230, doi. 10.1038/sj.ejhg.5201908
- By:
- Publication type:
- Article
Fine Characterization of the Recurrent c.1584+18672A>G Deep-Intronic Mutation in the Cystic Fibrosis Transmembrane Conductance Regulator Gene.
- Published in:
- American Journal of Respiratory Cell & Molecular Biology, 2013, v. 48, n. 5, p. 619, doi. 10.1165/rcmb.2012-0371OC
- By:
- Publication type:
- Article
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study.
- Published in:
- Frontiers in Genetics, 2020, p. 1, doi. 10.3389/fgene.2020.00131
- By:
- Publication type:
- Article
Gap Junctions Are Involved in the Rescue of CFTR-Dependent Chloride Efflux by Amniotic Mesenchymal Stem Cells in Coculture with Cystic Fibrosis CFBE41o- Cells.
- Published in:
- Stem Cells International, 2018, p. 1, doi. 10.1155/2018/1203717
- By:
- Publication type:
- Article
CFTR Rearrangements in Spanish Cystic Fibrosis Patients: First New Duplication (35kb) Characterised in the Mediterranean Countries.
- Published in:
- Annals of Human Genetics, 2010, v. 74, n. 5, p. 463, doi. 10.1111/j.1469-1809.2010.00591.x
- By:
- Publication type:
- Article
Correction of defective CFTR/ ENaC function and tightness of cystic fibrosis airway epithelium by amniotic mesenchymal stromal (stem) cells.
- Published in:
- Journal of Cellular & Molecular Medicine, 2014, v. 18, n. 8, p. 1631, doi. 10.1111/jcmm.12303
- By:
- Publication type:
- Article
Full COLD-PCR Protocol for Noninvasive Prenatal Diagnosis of Genetic Diseases.
- Published in:
- Clinical Chemistry, 2011, v. 57, n. 1, p. 136, doi. 10.1373/clinchem.2010.155671
- By:
- Publication type:
- Article
Survival and dementia in GBA-associated Parkinson's disease: The mutation matters.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Use of parthenogenetic activation of human oocytes as an experimental model for evaluation of polar body based PGD assay performance.
- Published in:
- Journal of Assisted Reproduction & Genetics, 2011, v. 28, n. 5, p. 461, doi. 10.1007/s10815-011-9540-x
- By:
- Publication type:
- Article
A New COL3A1 Mutation in Ehlers-Danlos Syndrome Vascular Type With Different Phenotypes in the Same Family.
- Published in:
- Vascular & Endovascular Surgery, 2017, v. 51, n. 3, p. 141, doi. 10.1177/1538574417692114
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- Publication type:
- Article
An interactive computer program can effectively educate potential users of cystic fibrosis carrier tests.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 778, doi. 10.1002/ajmg.a.33870
- By:
- Publication type:
- Article
Abstracts from the 23rd Italian congress of Cystic Fibrosis and the 13th National congress of Cystic Fibrosis Italian Society.
- Published in:
- Italian Journal of Pediatrics, 2018, v. 44, p. 1, doi. 10.1186/s13052-017-0430-4
- By:
- Publication type:
- Article
Workload measurement for molecular genetics laboratory: A survey study.
- Published in:
- PLoS ONE, 2018, v. 13, n. 11, p. 1, doi. 10.1371/journal.pone.0206855
- By:
- 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:
- Publication type:
- Article
A novel stop mutation in exon 18 (W1145X) of the CFTR (ABCC7) gene in an adult CF patient.
- Published in:
- Human Mutation, 2000, v. 16, n. 6, p. 532, doi. 10.1002/1098-1004(200012)16:6<532::AID-HUMU20>3.0.CO;2-E
- By:
- Publication type:
- Article
A novel deletion in exon 12 (g1845delAG or g1846delGA) of the CFTR (ABCC7) gene in a CF infant presenting with meconium ileus.
- Published in:
- Human Mutation, 2000, v. 16, n. 3, p. 279, doi. 10.1002/1098-1004(200009)16:3<279::AID-HUMU31>3.0.CO;2-#
- By:
- Publication type:
- Article
A novel missense mutation (Y89C) in exon 3 of the CFTR (ABCC7) gene in a young male.
- Published in:
- Human Mutation, 2000, v. 15, n. 5, p. 486, doi. 10.1002/(SICI)1098-1004(200005)15:5<486::AID-HUMU25>3.0.CO;2-S
- By:
- Publication type:
- Article
A novel missense mutation (D110E) in exon 4 of CFTR (ABCC7) in a CF infant presenting with hypochloraemic metabolic alkalosis.
- Published in:
- Human Mutation, 2000, v. 15, n. 5, p. 485, doi. 10.1002/(SICI)1098-1004(200005)15:5<485::AID-HUMU22>3.0.CO;2-3
- By:
- Publication type:
- Article
Four new mutations of the CFTR gene (541delC, R347H, R352Q, E585X) detected by DGGE analysis in Italian CF patients, associated with different clinical phenotypes.
- Published in:
- Human Mutation, 1992, v. 1, n. 4, p. 314, doi. 10.1002/humu.1380010409
- By:
- Publication type:
- Article
Amniotic Mesenchymal Stem Cells: A New Source for Hepatocyte-Like Cells and Induction of CFTR Expression by Coculture with Cystic Fibrosis Airway Epithelial Cells.
- Published in:
- 2012
- By:
- Publication type:
- Journal Article
Amniotic Mesenchymal Stem Cells: A New Source for Hepatocyte-Like Cells and Induction of CFTR Expression by Coculture with Cystic Fibrosis Airway Epithelial Cells.
- Published in:
- Journal of Biomedicine & Biotechnology, 2012, v. 2012, p. 1, doi. 10.1155/2012/575471
- By:
- Publication type:
- Article