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Academic Journal

Current and future trends in non-small cell lung cancer biomarker testing: The American experience.

  • Authors : VanderLaan PA; Department of Pathology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts.; Roy-Chowdhuri S

Subjects: Mutation*; Biomarkers, Tumor/Biomarkers, Tumor/Biomarkers, Tumor/*genetics ; Carcinoma, Non-Small-Cell Lung/Carcinoma, Non-Small-Cell Lung/Carcinoma, Non-Small-Cell Lung/*pathology

  • Source: Cancer cytopathology [Cancer Cytopathol] 2020 Sep; Vol. 128 (9), pp. 629-636.Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101499453 Publication Model:

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Academic Journal

Mutation analysis of a cohort of US patients with hemophilia B.

  • Authors : Li T; Division of Blood Disorders, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia.; Miller CH

Subjects: Mutation* ; Sequence Analysis, DNA*; Factor IX/Factor IX/Factor IX/*genetics

  • Source: American journal of hematology [Am J Hematol] 2014 Apr; Vol. 89 (4), pp. 375-9. Date of Electronic Publication: 2014 Mar 03.Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 7610369 Publication Model:

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Academic Journal

Advancing RAS/RASopathy therapies: An NCI-sponsored intramural and extramural collaboration for the study of RASopathies.

  • Authors : Gross AM; Pediatric Oncology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland.; Frone M

Subjects: Molecular Targeted Therapy* ; Mutation*; Costello Syndrome/Costello Syndrome/Costello Syndrome/*therapy Cardiofaciocutaneous syndrome

  • Source: American journal of medical genetics. Part A [Am J Med Genet A] 2020 Apr; Vol. 182 (4), pp. 866-876. Date of Electronic Publication: 2020 Jan 08.Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model:

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Editorial & Opinion

Carrier frequency of the RSH/Smith-Lemli-Opitz IVS8-1G>C mutation in African Americans.

Subjects: Heterozygote* ; Mutation*; Smith-Lemli-Opitz Syndrome/Smith-Lemli-Opitz Syndrome/Smith-Lemli-Opitz Syndrome/*genetics

  • Source: American journal of medical genetics. Part A [Am J Med Genet A] 2003 Jul 01; Vol. 120A (1), pp. 139-41.Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model:

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Academic Journal

Phenylalanine hydroxylase deficiency exhibits mutation heterogeneity in two large old order Amish settlements.

  • Authors : Wang H; Das Deutsch Center (DDC) Clinic for Special Needs Children, Middlefield, Ohio 44062, USA. ; Nye L

Subjects: Genetic Heterogeneity* ; Mutation*; Phenylalanine Hydroxylase/Phenylalanine Hydroxylase/Phenylalanine Hydroxylase/*deficiency

  • Source: American journal of medical genetics. Part A [Am J Med Genet A] 2007 Aug 15; Vol. 143A (16), pp. 1938-40.Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model:

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Academic Journal

Estimate of the frequency of Wilson's disease in the US Caucasian population: a mutation analysis approach.

  • Authors : Olivarez L; University of Michigan, Department of Human Genetics, Ann Arbor 48109-0618, USA.; Caggana M

Subjects: Mutation*; Hepatolenticular Degeneration/Hepatolenticular Degeneration/Hepatolenticular Degeneration/*epidemiology ; White People/White People/White People/*genetics

  • Source: Annals of human genetics [Ann Hum Genet] 2001 Sep; Vol. 65 (Pt 5), pp. 459-63.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0416661 Publication Model: Print Cited Medium: Print

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Report

An African origin for an "American black" beta zero-thalassemia mutation?

Subjects: Mutation*; Black People/Black People/Black People/*genetics ; beta-Thalassemia/beta-Thalassemia/beta-Thalassemia/*genetics

  • Source: American journal of hematology [Am J Hematol] 1994 Aug; Vol. 46 (4), pp. 373-4.Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 7610369 Publication Model:

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Academic Journal

Mutation screen of the GAD2 gene and association study of alcoholism in three populations.

  • Authors : Lappalainen J; Department of Psychiatry, Yale University School of Medicine, New Haven, Connecticut, USA. ; Krupitsky E

Subjects: Genetic Testing*; Alcoholism/Alcoholism/Alcoholism/*genetics ; Genetic Predisposition to Disease/Genetic Predisposition to Disease/Genetic Predisposition to Disease/*genetics

  • Source: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics [Am J Med Genet B Neuropsychiatr Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235742 Publication Model:

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Academic Journal

Mutations in Ovis aries TMEM154 are associated with lower small ruminant lentivirus proviral concentration in one sheep flock.

  • Authors : Alshanbari FA; Department of Veterinary Microbiology and Pathology, Washington State University, Pullman, WA, 99164, USA.; Mousel MR

Subjects: Mutation*; Membrane Proteins/Membrane Proteins/Membrane Proteins/*genetics ; Pneumonia, Progressive Interstitial, of Sheep/Pneumonia, Progressive Interstitial, of Sheep/Pneumonia, Progressive Interstitial, of Sheep/*genetics

  • Source: Animal genetics [Anim Genet] 2014 Aug; Vol. 45 (4), pp. 565-71. Date of Electronic Publication: 2014 Jun 17.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 8605704 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Precore and basal core promoter mutations in Asian American patients with hepatitis B e antigen-positive chronic hepatitis B.

  • Authors : Vutien P; Case Western Reserve University School of Medicine, Cleveland, OH, USA.; Trinh HN

Subjects: Mutation*; Hepatitis B e Antigens/Hepatitis B e Antigens/Hepatitis B e Antigens/*blood ; Hepatitis B virus/Hepatitis B virus/Hepatitis B virus/*genetics

  • Source: Alimentary pharmacology & therapeutics [Aliment Pharmacol Ther] 2013 Feb; Vol. 37 (4), pp. 464-72. Date of Electronic Publication: 2012 Dec 22.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 8707234 Publication Model: Print-Electronic Cited Medium:

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