Autor: "Weymouth KS" - OpacWWW

Skocz do pozycji: 1 1.

Tytuł :: Evaluation of a 27-gene inherited cancer panel across 630 consecutive patients referred for testing in a clinical diagnostic laboratory.
Autorzy :: Gardner SA; Integrated Genetics, Laboratory Corporation of America® Holdings, Research Triangle Park, NC and 3400 Computer Drive, Westborough, MA 01581 USA.
Weymouth KS; Integrated Genetics, Laboratory Corporation of America® Holdings, Research Triangle Park, NC and 3400 Computer Drive, Westborough, MA 01581 USA.
Kelly WS; Integrated Genetics, Laboratory Corporation of America® Holdings, Research Triangle Park, NC and 3400 Computer Drive, Westborough, MA 01581 USA.
Bogdanova E; Integrated Genetics, Laboratory Corporation of America® Holdings, Research Triangle Park, NC and 3400 Computer Drive, Westborough, MA 01581 USA.
Chen W; Integrated Genetics, Laboratory Corporation of America® Holdings, Research Triangle Park, NC and 3400 Computer Drive, Westborough, MA 01581 USA.
Lupu D; Integrated Genetics, Laboratory Corporation of America® Holdings, Research Triangle Park, NC and 3400 Computer Drive, Westborough, MA 01581 USA.
Suhl J; Integrated Genetics, Laboratory Corporation of America® Holdings, Research Triangle Park, NC and 3400 Computer Drive, Westborough, MA 01581 USA.
Zeng Q; Integrated Genetics, Laboratory Corporation of America® Holdings, Research Triangle Park, NC and 3400 Computer Drive, Westborough, MA 01581 USA.
Geigenmüller U; Integrated Genetics, Laboratory Corporation of America® Holdings, Research Triangle Park, NC and 3400 Computer Drive, Westborough, MA 01581 USA.
Boles D; Integrated Genetics, Laboratory Corporation of America® Holdings, Research Triangle Park, NC and 3400 Computer Drive, Westborough, MA 01581 USA.
Okamoto PM; Integrated Genetics, Laboratory Corporation of America® Holdings, Research Triangle Park, NC and 3400 Computer Drive, Westborough, MA 01581 USA.
McDowell G; Integrated Genetics, Laboratory Corporation of America® Holdings, Research Triangle Park, NC and 3400 Computer Drive, Westborough, MA 01581 USA.
Hayden MA; Integrated Genetics, Laboratory Corporation of America® Holdings, Research Triangle Park, NC and 3400 Computer Drive, Westborough, MA 01581 USA.
Nagan N; Integrated Genetics, Laboratory Corporation of America® Holdings, Research Triangle Park, NC and 3400 Computer Drive, Westborough, MA 01581 USA.; Pokaż więcej
Źródło :: Hereditary cancer in clinical practice [Hered Cancer Clin Pract] 2018 Jan 04; Vol. 16, pp. 1. Date of Electronic Publication: 2018 Jan 04 (Print Publication: 2018).
Typ publikacji :: Journal Article
: Czasopismo naukowe

Szczegóły Pełny tekst Pełny tekst

Skocz do pozycji: 2 2.

Tytuł :: BRCA Share: A Collection of Clinical BRCA Gene Variants.
Autorzy :: Béroud C; Aix Marseille Univ, INSERM, GMGF, Marseille, France.; APHM, Hôpital TIMONE Enfants, Laboratoire de Génétique Moléculaire, Marseille, France.
Letovsky SI; Laboratory Corporation of America, Westborough, Massachusetts.
Braastad CD; Quest Diagnostics, Marlborough, Massachusetts.
Caputo SM; Service de Génétique, Department de Biologie des Tumeurs, Institut Curie, Paris, France.
Beaudoux O; CHU et Institut Jean Godinot, Reims, France.
Bignon YJ; Centre Jean Perrin, Clermont-Ferrand, France.
Bressac-De Paillerets B; Institut Gustave Roussy, Villejuif, France.
Bronner M; CHU de Nancy-Brabois, Vandoeuvre-lés-Nancy, France.
Buell CM; Quest Diagnostics, Marlborough, Massachusetts.
Collod-Béroud G; Aix Marseille Univ, INSERM, GMGF, Marseille, France.
Coulet F; Groupe hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Laboratoire d'Oncogénétique et Angiogénétique moléculaire, Université Pierre et Marie Curie, Paris, France.
Derive N; Service de Génétique, Department de Biologie des Tumeurs, Institut Curie, Paris, France.
Divincenzo C; Quest Diagnostics, Marlborough, Massachusetts.
Elzinga CD; Quest Diagnostics, Marlborough, Massachusetts.
Garrec C; CHU, Institut de Biologie, Hôtel Dieu, Nantes, France.
Houdayer C; Service de Génétique, Department de Biologie des Tumeurs, Institut Curie, Paris, France.; Université Paris Descartes, Paris, France.
Karbassi I; Quest Diagnostics, Marlborough, Massachusetts.
Lizard S; CHU de Dijon, Hôpital d'Enfants, Service de Génétique Médicale, Dijon, France.
Love A; Quest Diagnostics, Marlborough, Massachusetts.
Muller D; Centre Paul Strauss, Strasbourg, France.
Nagan N; Laboratory Corporation of America, Westborough, Massachusetts.
Nery CR; Quest Diagnostics, San Juan Capistrano, California.
Rai G; Aix Marseille Univ, INSERM, GMGF, Marseille, France.
Revillion F; Centre Oscar Lambret, Unité d'Oncologie Moléculaire Humaine, Lille, France.
Salgado D; Aix Marseille Univ, INSERM, GMGF, Marseille, France.
Sévenet N; Institut Bergonié, Bordeaux, France.
Sinilnikova O; Hospices Civils de Lyon and Centre Léon Bérard, Lyon, France.
Sobol H; Institut Paoli-Calmettes, Marseille, France.
Stoppa-Lyonnet D; Service de Génétique, Department de Biologie des Tumeurs, Institut Curie, Paris, France.; Université Paris Descartes, Paris, France.
Toulas C; Institut Claudius Régaud, Toulouse, France.
Trautman E; Laboratory Corporation of America, Westborough, Massachusetts.
Vaur D; Laboratoire de biologie et de génétique du cancer, CLCC François Baclesse, INSERM 1079 Centre Normand de Génomique et de Médecine Personnalisée, Caen, France.
Vilquin P; Laboratoire de Biologie Cellulaire et Hormonale (CHU Arnaud de Villeneuve), Montpellier, France.
Weymouth KS; Laboratory Corporation of America, Westborough, Massachusetts.
Willis A; Laboratory Corporation of America, Research Triangle Park, North Carolina.
Eisenberg M; Laboratory Corporation of America, Research Triangle Park, North Carolina.
Strom CM; Quest Diagnostics, San Juan Capistrano, California.; Pokaż więcej
Corporate Authors :: Laboratory Corporation of America Variant Classification Group; Laboratory Corporation of America, Westborough, Massachusetts.; Laboratory Corporation of America, Research Triangle Park, North Carolina.
Quest Diagnostics Variant Classification Group; Quest Diagnostics, Marlborough, Massachusetts.; Quest Diagnostics, San Juan Capistrano, California.
UNICANCER Genetic Group BRCA Laboratory Network
Źródło :: Human mutation [Hum Mutat] 2016 Dec; Vol. 37 (12), pp. 1318-1328. Date of Electronic Publication: 2016 Sep 28.
Typ publikacji :: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :: Databases, Factual*/economics
BRCA1 Protein/*genetics
BRCA2 Protein/*genetics
Breast Neoplasms/*genetics
Ovarian Neoplasms/*genetics
Data Curation ; Female ; Genetic Predisposition to Disease ; Humans ; Mutation
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 3 3.

Tytuł :: Exploring the landscape of pathogenic genetic variation in the ExAC population database: insights of relevance to variant classification.
Autorzy :: Song W; Integrated Genetics, Laboratory Corporation of America Holdings, Westborough, Massachusetts, USA.; Integrated Genetics, Laboratory Corporation of America Holdings, Research Triangle Park, North Carolina, USA.
Gardner SA; Integrated Genetics, Laboratory Corporation of America Holdings, Westborough, Massachusetts, USA.; Integrated Genetics, Laboratory Corporation of America Holdings, Research Triangle Park, North Carolina, USA.
Hovhannisyan H; Integrated Genetics, Laboratory Corporation of America Holdings, Westborough, Massachusetts, USA.; Integrated Genetics, Laboratory Corporation of America Holdings, Research Triangle Park, North Carolina, USA.
Natalizio A; Integrated Genetics, Laboratory Corporation of America Holdings, Westborough, Massachusetts, USA.; Integrated Genetics, Laboratory Corporation of America Holdings, Research Triangle Park, North Carolina, USA.
Weymouth KS; Integrated Genetics, Laboratory Corporation of America Holdings, Westborough, Massachusetts, USA.; Integrated Genetics, Laboratory Corporation of America Holdings, Research Triangle Park, North Carolina, USA.
Chen W; Integrated Genetics, Laboratory Corporation of America Holdings, Westborough, Massachusetts, USA.; Integrated Genetics, Laboratory Corporation of America Holdings, Research Triangle Park, North Carolina, USA.
Thibodeau I; Integrated Genetics, Laboratory Corporation of America Holdings, Westborough, Massachusetts, USA.; Integrated Genetics, Laboratory Corporation of America Holdings, Research Triangle Park, North Carolina, USA.
Bogdanova E; Integrated Genetics, Laboratory Corporation of America Holdings, Westborough, Massachusetts, USA.; Integrated Genetics, Laboratory Corporation of America Holdings, Research Triangle Park, North Carolina, USA.
Letovsky S; Integrated Genetics, Laboratory Corporation of America Holdings, Westborough, Massachusetts, USA.; Integrated Genetics, Laboratory Corporation of America Holdings, Research Triangle Park, North Carolina, USA.
Willis A; Integrated Genetics, Laboratory Corporation of America Holdings, Westborough, Massachusetts, USA.; Integrated Genetics, Laboratory Corporation of America Holdings, Research Triangle Park, North Carolina, USA.
Nagan N; Integrated Genetics, Laboratory Corporation of America Holdings, Westborough, Massachusetts, USA.; Integrated Genetics, Laboratory Corporation of America Holdings, Research Triangle Park, North Carolina, USA.; Pokaż więcej
Źródło :: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2016 Aug; Vol. 18 (8), pp. 850-4. Date of Electronic Publication: 2015 Dec 17.
Typ publikacji :: Comparative Study; Journal Article
MeSH Terms :: Databases, Genetic*
Genetic Variation*
Ethnic Groups/*genetics
Exome ; Gene Frequency ; Genetic Predisposition to Disease ; Humans
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 4 4.

Tytuł :: Functional Assessment of Clubfoot Associated HOXA9, TPM1, and TPM2 Variants Suggests a Potential Gene Regulation Mechanism.
Autorzy :: Weymouth KS; Department of Pediatrics, UTHealth McGovern Medical School, 6431 Fannin St., MSB 3.306, Houston, TX, 77030, USA. katelyn.s.weymouth@uth.tmc.edu.
Blanton SH; Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL, USA.
Powell T; Department of Pediatrics, UTHealth McGovern Medical School, 6431 Fannin St., MSB 3.306, Houston, TX, 77030, USA.
Patel CV; Department of Cell Biology and Anatomy, University of South Carolina School of Medicine, Columbia, SC, USA.
Savill SA; Diabetes and Endocrinology Research Group, Wrexham Academic Unit, Betsi Cadwaladr University Health Board, Wrexham, UK.
Hecht JT; Department of Pediatrics, UTHealth McGovern Medical School, 6431 Fannin St., MSB 3.306, Houston, TX, 77030, USA.; UTHealth School of Dentistry, Houston, TX, USA.; Pokaż więcej
Źródło :: Clinical orthopaedics and related research [Clin Orthop Relat Res] 2016 Jul; Vol. 474 (7), pp. 1726-35. Date of Electronic Publication: 2016 Mar 28.
Typ publikacji :: Journal Article
MeSH Terms :: Polymorphism, Single Nucleotide*
Clubfoot/*genetics
Homeodomain Proteins/*genetics
Tropomyosin/*genetics
Animals ; Binding Sites ; Cell Line ; Clubfoot/diagnosis ; Clubfoot/metabolism ; Databases, Genetic ; Electrophoretic Mobility Shift Assay ; Gene Expression Regulation ; Gene Frequency ; Genes, Reporter ; Genetic Association Studies ; Genetic Markers ; Genetic Predisposition to Disease ; Haplotypes ; Homeodomain Proteins/metabolism ; Humans ; Luciferases/biosynthesis ; Luciferases/genetics ; Mice ; Phenotype ; Promoter Regions, Genetic ; Protein Binding ; Risk Factors ; Transfection ; Tropomyosin/metabolism
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 5 5.

Tytuł :: Regulatory variant in FZD6 gene contributes to nonsyndromic cleft lip and palate in an African-American family.
Autorzy :: Cvjetkovic N; Department of Pediatrics, University of Texas Medical School at Houston Houston, Texas ; Graduate School of Biomedical Sciences, University of Texas Health Science Center Houston, Texas.
Maili L; Department of Pediatrics, University of Texas Medical School at Houston Houston, Texas.
Weymouth KS; Department of Pediatrics, University of Texas Medical School at Houston Houston, Texas ; Graduate School of Biomedical Sciences, University of Texas Health Science Center Houston, Texas.
Hashmi SS; Department of Pediatrics, University of Texas Medical School at Houston Houston, Texas.
Mulliken JB; Boston Children's Hospital Boston, Massachusetts.
Topczewski J; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago Research Center Chicago, Illinois.
Letra A; Graduate School of Biomedical Sciences, University of Texas Health Science Center Houston, Texas ; University of Texas School of Dentistry at Houston Houston, Texas.
Yuan Q; Department of Pediatrics, University of Texas Medical School at Houston Houston, Texas.
Blanton SH; Dr. John T. Macdonald Department of Human Genetics, Hussman Institute for Human Genomics, University of Miami Miller School of Medicine Miami, Florida.
Swindell EC; Department of Pediatrics, University of Texas Medical School at Houston Houston, Texas.
Hecht JT; Department of Pediatrics, University of Texas Medical School at Houston Houston, Texas ; Graduate School of Biomedical Sciences, University of Texas Health Science Center Houston, Texas ; University of Texas School of Dentistry at Houston Houston, Texas.; Pokaż więcej
Źródło :: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2015 Sep; Vol. 3 (5), pp. 440-51. Date of Electronic Publication: 2015 May 07.
Typ publikacji :: Journal Article
: Czasopismo naukowe

Szczegóły Pełny tekst Pełny tekst

Skocz do pozycji: 6 6.

Tytuł :: Variants in genes that encode muscle contractile proteins influence risk for isolated clubfoot.
Autorzy :: Weymouth KS; University of Texas Medical School at Houston, Houston, Texas 77030, USA.
Blanton SH
Bamshad MJ
Beck AE
Alvarez C
Richards S
Gurnett CA
Dobbs MB
Barnes D
Mitchell LE
Hecht JT; Pokaż więcej
Źródło :: American journal of medical genetics. Part A [Am J Med Genet A] 2011 Sep; Vol. 155A (9), pp. 2170-9. Date of Electronic Publication: 2011 Aug 10.
Typ publikacji :: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :: Genetic Variation*
Clubfoot/*genetics
Contractile Proteins/*genetics
Cytoskeletal Proteins/*genetics
Muscle Proteins/*genetics
Arthrogryposis/genetics ; Female ; Genotype ; Humans ; Male ; Muscle Contraction/genetics ; Musculoskeletal Abnormalities/genetics ; Polymorphism, Single Nucleotide
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 7 7.

Tytuł :: Altered transmission of HOX and apoptotic SNPs identify a potential common pathway for clubfoot.
Autorzy :: Ester AR; Department of Pediatrics, University of Texas Medical School at Houston, Houston, TX, USA.
Weymouth KS
Burt A
Wise CA
Scott A
Gurnett CA
Dobbs MB
Blanton SH
Hecht JT; Pokaż więcej
Źródło :: American journal of medical genetics. Part A [Am J Med Genet A] 2009 Dec; Vol. 149A (12), pp. 2745-52.
Typ publikacji :: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :: Apoptosis/*genetics
Clubfoot/*genetics
Homeodomain Proteins/*genetics
Inheritance Patterns/*genetics
Insulin-Like Growth Factor Binding Protein 3/*genetics
Polymorphism, Single Nucleotide/*genetics
Signal Transduction/*genetics
Binding Sites ; Gene Frequency ; Genetic Linkage ; Haplotypes/genetics ; Hispanic Americans/genetics ; Humans ; Mitochondria/genetics ; Models, Genetic ; Mutation/genetics ; Transcription Factors/metabolism
: Czasopismo naukowe

Szczegóły

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