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Academic Journal

Long-term safety and efficacy of lumacaftor-ivacaftor therapy in children aged 6-11 years with cystic fibrosis homozygous for the F508del-CFTR mutation: a phase 3, open-label, extension study.

  • Authors : Chilvers MA; BC Children's Hospital, Vancouver, BC, Canada. Electronic address: .; Davies JC

Subjects: Aminophenols/Aminophenols/Aminophenols/*therapeutic use ; Aminopyridines/Aminopyridines/Aminopyridines/*therapeutic use ; Benzodioxoles/Benzodioxoles/Benzodioxoles/*therapeutic use

  • Source: The Lancet. Respiratory medicine [Lancet Respir Med] 2021 Jul; Vol. 9 (7), pp. 721-732. Date of Electronic Publication: 2021 Jan 28.Publisher: Elsevier Country of Publication: England NLM ID: 101605555 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

The natural history of type B aortic dissection in patients with PRKG1 mutation c.530G>A (p.Arg177Gln).

Subjects: Mutation*; Aortic Dissection/Aortic Dissection/Aortic Dissection/*genetics ; Aortic Aneurysm, Thoracic/Aortic Aneurysm, Thoracic/Aortic Aneurysm, Thoracic/*genetics

  • Source: Journal of vascular surgery [J Vasc Surg] 2019 Sep; Vol. 70 (3), pp. 718-723. Date of Electronic Publication: 2019 Mar 11.Publisher: Elsevier Country of Publication: United States NLM ID: 8407742 Publication Model:

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Academic Journal

Infectivity versus fatality of SARS-CoV-2 mutations and influenza.

  • Authors : Xue L; College of Mathematical Sciences, Harbin Engineering University, Harbin, Heilongjiang, 150001, China.; Jing S

Subjects: COVID-19*/COVID-19*/COVID-19*/epidemiology ; COVID-19*/COVID-19*/COVID-19*/virology ; Influenza A Virus, H1N1 Subtype*/Influenza A Virus, H1N1 Subtype*/Influenza A Virus, H1N1 Subtype*/genetics SARS-CoV-2 variants

  • Source: International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases [Int J Infect Dis] 2022 Aug; Vol. 121, pp. 195-202. DatePublisher: Elsevier Country of Publication: Canada NLM ID: 9610933 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Ivacaftor treatment of cystic fibrosis in children aged 12 to <24 months and with a CFTR gating mutation (ARRIVAL): a phase 3 single-arm study.

Subjects: Aminophenols/Aminophenols/Aminophenols/*therapeutic use ; Chloride Channel Agonists/Chloride Channel Agonists/Chloride Channel Agonists/*therapeutic use ; Cystic Fibrosis/Cystic Fibrosis/Cystic Fibrosis/*drug therapy

  • Source: The Lancet. Respiratory medicine [Lancet Respir Med] 2018 Jul; Vol. 6 (7), pp. 545-553. Date of Electronic Publication: 2018 Jun 07.Publisher: Elsevier Country of Publication: England NLM ID: 101605555 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

A multi-institutional experience in vascular Ehlers-Danlos syndrome diagnosis.

  • Authors : Shalhub S; Division of Vascular Surgery, Department of Surgery, University of Washington, Seattle, Wash. Electronic address: .; Byers PH

Subjects: DNA Mutational Analysis* ; Mutation*; Collagen Type III/Collagen Type III/Collagen Type III/*genetics

  • Source: Journal of vascular surgery [J Vasc Surg] 2020 Jan; Vol. 71 (1), pp. 149-157. Date of Electronic Publication: 2019 Jul 26.Publisher: Elsevier Country of Publication: United States NLM ID: 8407742 Publication Model:

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Academic Journal

H.J. Muller's contributions to mutation research.

  • Authors : Carlson EA; Emeritus, Department of Biochemistry, Stony Brook University, Stony Brook, NY, 11794-5215, United States; Institute for Advanced Study, Indiana University, Bloomington, IN, 47407-8638, United States. Electronic address: .

Subjects: Mutation*; Genetics/Genetics/Genetics/*history; Biological Evolution Muller HJ

  • Source: Mutation research [Mutat Res] 2013 Jan-Mar; Vol. 752 (1), pp. 1-5. Date of Electronic Publication: 2012 Aug 28.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 0400763 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

The c.1364C>A (p.A455E) Mutation in the CFTR Pseudogene Results in an Incorrectly Assigned Carrier Status by a Commonly Used Screening Platform.

  • Authors : Deeb KK; Center for Human Genetics Laboratory, University Hospitals Case Medical Center, Cleveland, Ohio.; Metcalf JD

Subjects: Cystic Fibrosis/Cystic Fibrosis/Cystic Fibrosis/*diagnosis ; Cystic Fibrosis/Cystic Fibrosis/Cystic Fibrosis/*genetics ; Cystic Fibrosis Transmembrane Conductance Regulator/Cystic Fibrosis Transmembrane Conductance Regulator/Cystic Fibrosis Transmembrane Conductance Regulator/*genetics

  • Source: The Journal of molecular diagnostics : JMD [J Mol Diagn] 2015 Jul; Vol. 17 (4), pp. 360-5. Date of Electronic Publication: 2015 May 05.Publisher: Elsevier Country of Publication: United States NLM ID: 100893612 Publication Model:

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Academic Journal

Clinicopathologic characteristics of the EGFR gene mutation in non-small cell lung cancer.

  • Authors : Tsao AS; Department of Thoracic/Head & Neck Medical Oncology, The University of Texas M. D. Anderson Cancer Center, Houston, Texas 77030-4009, USA.; Tang XM

Subjects: Asian People* ; Mutation*; Carcinoma, Non-Small-Cell Lung/Carcinoma, Non-Small-Cell Lung/Carcinoma, Non-Small-Cell Lung/*genetics

  • Source: Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer [J Thorac Oncol] 2006 Mar; Vol. 1 (3), pp. 231-9.Publisher: Elsevier Country of Publication: United States NLM ID: 101274235 Publication Model:

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Academic Journal

CFTR mutation distribution among U.S. Hispanic and African American individuals: evaluation in cystic fibrosis patient and carrier screening populations.

  • Authors : Sugarman EA; Genzyme Corporation, Genzyme Genetics, Molecular Diagnostic Laboratory, Westborough, Massachusetts 01581, USA.; Rohlfs EM

Subjects: Genetic Testing* ; Mutation*; Black or African American/Black or African American/Black or African American/*genetics

  • Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2004 Sep-Oct; Vol. 6 (5), pp. 392-9.Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model:

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