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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: Internet ISSN: 2213-2619

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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: Print-Electronic Cited Medium:

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Academic Journal

Rate of BRCA mutation in patients tested under NCCN genetic testing criteria.

  • Authors : Beck AC; University of Iowa Hospitals and Clinics, 200 Hawkins Drive, Iowa City, IA, 52242, USA.; Yuan H

Subjects: Mutation*; Breast Neoplasms/Breast Neoplasms/Breast Neoplasms/*genetics ; Genes, BRCA1/Genes, BRCA1/Genes, BRCA1/*physiology

  • Source: American journal of surgery [Am J Surg] 2020 Jan; Vol. 219 (1), pp. 145-149. Date of Electronic Publication: 2019 Jun 19.Publisher: Excerpta Medica Country of Publication: United States NLM ID: 0370473 Publication Model: Print-Electronic Cited

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Academic Journal

MARS: Mutation-Adjusted Risk Score for Advanced Systemic Mastocytosis.

  • Authors : Jawhar M; University Hospital Mannheim, Heidelberg University, Mannheim, Germany.; Schwaab J

Subjects: DNA Mutational Analysis* ; Decision Support Techniques* ; Mutation*

  • Source: Journal of clinical oncology : official journal of the American Society of Clinical Oncology [J Clin Oncol] 2019 Nov 01; Vol. 37 (31), pp. 2846-2856. Date of Electronic Publication: Publisher: American Society of Clinical Oncology Country of Publication: United States NLM ID: 8309333 Publication Model:

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Academic Journal

Significance of FLT3-tyrosine kinase domain mutation as a prognostic factor for acute myeloid leukemia.

  • Authors : Sakaguchi M; Department of Hematology, Nippon Medical School, 1-1-5 Sendagi, Bunkyo-Ku, Tokyo, 113-8603, Japan.; Yamaguchi H

Subjects: Mutation*; Leukemia, Myeloid, Acute/Leukemia, Myeloid, Acute/Leukemia, Myeloid, Acute/*diagnosis ; fms-Like Tyrosine Kinase 3/fms-Like Tyrosine Kinase 3/fms-Like Tyrosine Kinase 3/*genetics

  • Source: International journal of hematology [Int J Hematol] 2019 Nov; Vol. 110 (5), pp. 566-574. Date of Electronic Publication: 2019 Aug 20.Publisher: Springer Japan Country of Publication: Japan NLM ID: 9111627 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

FDA Approval Summary: Ivosidenib for Relapsed or Refractory Acute Myeloid Leukemia with an Isocitrate Dehydrogenase-1 Mutation.

  • Authors : Norsworthy KJ; Center for Drug Evaluation and Research, U.S. Food and Drug Administration, Silver Spring, Maryland. .; Luo L

Subjects: Drug Approval* ; Mutation*; Antineoplastic Agents/Antineoplastic Agents/Antineoplastic Agents/*therapeutic use

  • Source: Clinical cancer research : an official journal of the American Association for Cancer Research [Clin Cancer Res] 2019 Jun 01; Vol. 25 (11), pp. 3205-3209. Date of Electronic Publisher: The Association Country of Publication: United States NLM ID: 9502500 Publication Model: Print-Electronic Cited

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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: Internet ISSN: 1878-3511

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Academic Journal

A Pragmatic Testing-Eligibility Framework for Population Mutation Screening: The Example of BRCA1/2 .

  • Authors : Best AF; Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, DHHS, Bethesda, Maryland.; Tucker MA

Subjects: Genetic Testing* ; Mutation*; BRCA1 Protein/BRCA1 Protein/BRCA1 Protein/*genetics

  • Source: Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology [Cancer Epidemiol Publisher: American Association for Cancer Research Country of Publication: United States NLM ID: 9200608 Publication Model:

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Academic Journal

RAS Mutation Clinical Risk Score to Predict Survival After Resection of Colorectal Liver Metastases.

  • Authors : Brudvik KW; Department of Surgical Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX.; Department of Hepato-Pancreato-Biliary Surgery, Oslo University Hospital, Oslo, Norway.

Subjects: Hepatectomy* ; Mutation* ; Propensity Score*

  • Source: Annals of surgery [Ann Surg] 2019 Jan; Vol. 269 (1), pp. 120-126.Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0372354 Publication Model: Print Cited

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Academic Journal

Salivary Mucinous Adenocarcinoma Is a Histologically Diverse Single Entity With Recurrent AKT1 E17K Mutations: Clinicopathologic and Molecular Characterization With Proposal for a Unified Classification.

  • Authors : Rooper LM; Departments of Pathology and Oncology, The Johns Hopkins University School of Medicine, Baltimore, MD.; Argyris PP

Subjects: Mutation*; Adenocarcinoma, Mucinous/Adenocarcinoma, Mucinous/Adenocarcinoma, Mucinous/*genetics ; Biomarkers, Tumor/Biomarkers, Tumor/Biomarkers, Tumor/*genetics

  • Source: The American journal of surgical pathology [Am J Surg Pathol] 2021 Oct 01; Vol. 45 (10), pp. 1337-1347.Publisher: Wolters Kluwer Health, Inc Country of Publication: United States NLM ID: 7707904 Publication Model: Print Cited

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