Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.

Alfares, Ahmed A; Kelly, Melissa A; McDermott, Gregory; Funke, Birgit H; Lebo, Matthew S; Baxter, Samantha B; Shen, Jun; McLaughlin, Heather M; Clark, Eugene H; Babb, Larry J; Cox, Stephanie W; DePalma, Steven R; Ho, Carolyn Y; Seidman, J G; Seidman, Christine E; Rehm, Heidi L

Alfares, Ahmed A; Kelly, Melissa A; McDermott, Gregory; Funke, Birgit H; Lebo, Matthew S; Baxter, Samantha B; Shen, Jun; McLaughlin, Heather M; Clark, Eugene H; Babb, Larry J; Cox, Stephanie W; DePalma, Steven R; Ho, Carolyn Y; Seidman, J G; Seidman, Christine E; Rehm, Heidi L.

Afiliação

Alfares AA; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Boston, Massachusetts, USA.
Kelly MA; Department of Pediatrics, Qassim University, Buraydah, Saudi Arabia.
McDermott G; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Boston, Massachusetts, USA.
Funke BH; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Boston, Massachusetts, USA.
Lebo MS; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Boston, Massachusetts, USA.
Baxter SB; Department of Pathology, Brigham and Women's Hospital and Massachusetts General Hospital, Boston, Massachusetts, USA.
Shen J; Department of Pathology, Harvard Medical School, Boston, Massachusetts, USA.
McLaughlin HM; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Boston, Massachusetts, USA.
Clark EH; Department of Pathology, Brigham and Women's Hospital and Massachusetts General Hospital, Boston, Massachusetts, USA.
Babb LJ; Department of Pathology, Harvard Medical School, Boston, Massachusetts, USA.
Cox SW; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Boston, Massachusetts, USA.
DePalma SR; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Boston, Massachusetts, USA.
Ho CY; Department of Pathology, Brigham and Women's Hospital and Massachusetts General Hospital, Boston, Massachusetts, USA.
Seidman JG; Department of Pathology, Harvard Medical School, Boston, Massachusetts, USA.
Seidman CE; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Boston, Massachusetts, USA.
Rehm HL; Department of Pathology, Brigham and Women's Hospital and Massachusetts General Hospital, Boston, Massachusetts, USA.

Genet Med ; 17(11): 880-8, 2015 Nov.

Article em En | MEDLINE | ID: mdl-25611685

Assuntos

Cardiomiopatia Hipertrófica/diagnóstico; Cardiomiopatia Hipertrófica/genética; Testes Genéticos; Adolescente; Adulto; Idoso; Idoso de 80 Anos ou mais; Cardiomiopatia Hipertrófica/epidemiologia; Criança; Pré-Escolar; Custos e Análise de Custo; Feminino; Predisposição Genética para Doença; Testes Genéticos/economia; Testes Genéticos/métodos; Testes Genéticos/normas; Variação Genética; Sequenciamento de Nucleotídeos em Larga Escala; Humanos; Masculino; Pessoa de Meia-Idade; Análise de Sequência com Séries de Oligonucleotídeos/economia; Análise de Sequência com Séries de Oligonucleotídeos/métodos; Análise de Sequência com Séries de Oligonucleotídeos/normas; Sensibilidade e Especificidade; Adulto Jovem

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cardiomiopatia Hipertrófica / Testes Genéticos Tipo de estudo: Diagnostic_studies / Health_economic_evaluation / Prognostic_studies Limite: Adolescent / Adult / Aged / Aged80 / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Estados Unidos

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