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Academic Journal

MET somatic activating mutations are responsible for lymphovenous malformation and can be identified using cell-free DNA next generation sequencing liquid biopsy.

Subjects: DNA Mutational Analysis* ; High-Throughput Nucleotide Sequencing* ; Mutation*

  • Source: Journal of vascular surgery. Venous and lymphatic disorders [J Vasc Surg Venous Lymphat Disord] 2021 May; Vol. 9 (3), pp. 740-744. Date of Electronic Publication: 2020 Aug 26.Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101607771 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

DCTN1 mutation analysis in Italian patients with PSP, MSA, and DLB.

  • Authors : Procopio R; Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto, Catanzaro, Italy; Institute of Neurology, Department of Medical and Surgical Sciences, University Magna Graecia, Catanzaro, Italy.

Subjects: DNA Mutational Analysis* ; Genetic Association Studies* ; Genetic Testing*

  • Source: Neurobiology of aging [Neurobiol Aging] 2020 Sep; Vol. 93, pp. 143.e5-143.e7. Date of Electronic Publication: 2020 Apr 15.Publisher: Elsevier Country of Publication: United States NLM ID: 8100437 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Mutation analysis of the FBN1 gene in a cohort of patients with Marfan Syndrome: A 10-year single center experience.

  • Authors : Mannucci L; Medical Genetics Unit, Tor Vergata Hospital, Rome, Italy. Electronic address: .; Luciano S

Subjects: DNA Mutational Analysis*; Fibrillin-1/Fibrillin-1/Fibrillin-1/*genetics ; Marfan Syndrome/Marfan Syndrome/Marfan Syndrome/*genetics

  • Source: Clinica chimica acta; international journal of clinical chemistry [Clin Chim Acta] 2020 Feb; Vol. 501, pp. 154-164. Date of Electronic Publication: 2019 Nov 12.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 1302422 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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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: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

A validated prognostic classifier for V600E BRAF-mutated metastatic colorectal cancer: the 'BRAF BeCool' study.

  • Authors : Loupakis F; Unit of Oncology 1, Department of Oncology, Veneto Institute of Oncology IOV - IRCCS, Padua, Italy. Electronic address: .; Intini R

Subjects: DNA Mutational Analysis* ; Mutation*; Biomarkers, Tumor/Biomarkers, Tumor/Biomarkers, Tumor/*genetics

  • Source: European journal of cancer (Oxford, England : 1990) [Eur J Cancer] 2019 Sep; Vol. 118, pp. 121-130. Date of Electronic Publication: 2019 Jul 19.Publisher: Elsevier Science Ltd Country of Publication: England NLM ID: 9005373 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

MIPSS70: Mutation-Enhanced International Prognostic Score System for Transplantation-Age Patients With Primary Myelofibrosis.

  • Authors : Guglielmelli P; Paola Guglielmelli, Giada Rotunno, Carmela Mannarelli, Annalisa Pacilli, Francesco Mannelli, and Alessandro M. Vannucchi, University of Florence, Azienda Ospedaliero Universitaria Careggi, Florence; Elisa Rumi, Vittorio Rosti, Giovanni Barosi, and Mario Cazzola, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo

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

  • Source: Journal of clinical oncology : official journal of the American Society of Clinical Oncology [J Clin Oncol] 2018 Feb 01; Vol. 36 (4), pp. 310-318. Date of Electronic Publication: Publisher: American Society of Clinical Oncology Country of Publication: United States NLM ID: 8309333 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Updated genetic testing of Italian patients referred with a clinical diagnosis of primary hyperoxaluria.

  • Authors : Pelle A; Department of Clinical and Biological Sciences, University of Torino, San Luigi University Hospital, Regione Gonzole 10, 10040, Orbassano, TO, Italy. .; Medical Genetics Unit, San Luigi University Hospital, Orbassano, Italy. .

Subjects: DNA Mutational Analysis* ; Mutation*; Alcohol Oxidoreductases/Alcohol Oxidoreductases/Alcohol Oxidoreductases/*genetics Primary hyperoxaluria type 1; Primary hyperoxaluria type 2

  • Source: Journal of nephrology [J Nephrol] 2017 Apr; Vol. 30 (2), pp. 219-225. Date of Electronic Publication: 2016 Mar 05.Publisher: Springer Country of Publication: Italy NLM ID: 9012268 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

ARMC5 mutation analysis in patients with primary aldosteronism and bilateral adrenal lesions.

  • Authors : Mulatero P; Division of Internal Medicine and Hypertension, Department of Medical Sciences-DSM, University of Torino, Torino Italy.; Schiavi F

Subjects: DNA Mutational Analysis* ; Germ-Line Mutation*; Adrenal Hyperplasia, Congenital/Adrenal Hyperplasia, Congenital/Adrenal Hyperplasia, Congenital/*genetics

  • Source: Journal of human hypertension [J Hum Hypertens] 2016 Jun; Vol. 30 (6), pp. 374-8. Date of Electronic Publication: 2015 Oct 08.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 8811625 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Mutational Analysis of Known ALS Genes in an Italian Population-Based Cohort.

Subjects: Population Surveillance*; Amyotrophic Lateral Sclerosis/Amyotrophic Lateral Sclerosis/Amyotrophic Lateral Sclerosis/*epidemiology ; Amyotrophic Lateral Sclerosis/Amyotrophic Lateral Sclerosis/Amyotrophic Lateral Sclerosis/*genetics

  • Source: Neurology [Neurology] 2021 Jan 26; Vol. 96 (4), pp. e600-e609. Date of Electronic Publication: 2020 Nov 18.Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Tracking of the origin of recurrent mutations of the BRCA1 and BRCA2 genes in the North-East of Italy and improved mutation analysis strategy.

  • Authors : Cini G; Experimental Oncology 1, CRO Aviano National Cancer Institute, Aviano, PN, Italy.; Mezzavilla M

Subjects: DNA Mutational Analysis*; BRCA1 Protein/BRCA1 Protein/BRCA1 Protein/*genetics ; BRCA2 Protein/BRCA2 Protein/BRCA2 Protein/*genetics

  • Source: BMC medical genetics [BMC Med Genet] 2016 Feb 06; Vol. 17, pp. 11. Date of Electronic Publication: 2016 Feb 06.Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350

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  • 1-10 of  646 results for ""DNA Mutational Analysis""