ARMC5 mutations in a large French-Canadian family with cortisol-secreting ß-adrenergic/vasopressin responsive bilateral macronodular adrenal hyperplasia.

Bourdeau, Isabelle; Oble, Sylvie; Magne, Fabien; Lévesque, Isabelle; Cáceres-Gorriti, Katia Y; Nolet, Serge; Awadalla, Philip; Tremblay, Johanne; Hamet, Pavel; Fragoso, Maria Candida Barisson Villares; Lacroix, André

Bourdeau, Isabelle; Oble, Sylvie; Magne, Fabien; Lévesque, Isabelle; Cáceres-Gorriti, Katia Y; Nolet, Serge; Awadalla, Philip; Tremblay, Johanne; Hamet, Pavel; Fragoso, Maria Candida Barisson Villares; Lacroix, André.

Afiliação

Bourdeau I; Division of EndocrinologyDepartment of MedicineDivision of Medical GeneticsDepartment of Medicine, Centre de Recherche du Centre Hospitalier de l'Université de Montréal (CRCHUM), Montréal, Quebec, CanadaDepartment of PathologyCHUM, Montréal, Quebec, CanadaDepartment of PediatricsCentre de Recherche
Oble S; Division of EndocrinologyDepartment of MedicineDivision of Medical GeneticsDepartment of Medicine, Centre de Recherche du Centre Hospitalier de l'Université de Montréal (CRCHUM), Montréal, Quebec, CanadaDepartment of PathologyCHUM, Montréal, Quebec, CanadaDepartment of PediatricsCentre de Recherche
Magne F; Division of EndocrinologyDepartment of MedicineDivision of Medical GeneticsDepartment of Medicine, Centre de Recherche du Centre Hospitalier de l'Université de Montréal (CRCHUM), Montréal, Quebec, CanadaDepartment of PathologyCHUM, Montréal, Quebec, CanadaDepartment of PediatricsCentre de Recherche
Lévesque I; Division of EndocrinologyDepartment of MedicineDivision of Medical GeneticsDepartment of Medicine, Centre de Recherche du Centre Hospitalier de l'Université de Montréal (CRCHUM), Montréal, Quebec, CanadaDepartment of PathologyCHUM, Montréal, Quebec, CanadaDepartment of PediatricsCentre de Recherche
Cáceres-Gorriti KY; Division of EndocrinologyDepartment of MedicineDivision of Medical GeneticsDepartment of Medicine, Centre de Recherche du Centre Hospitalier de l'Université de Montréal (CRCHUM), Montréal, Quebec, CanadaDepartment of PathologyCHUM, Montréal, Quebec, CanadaDepartment of PediatricsCentre de Recherche
Nolet S; Division of EndocrinologyDepartment of MedicineDivision of Medical GeneticsDepartment of Medicine, Centre de Recherche du Centre Hospitalier de l'Université de Montréal (CRCHUM), Montréal, Quebec, CanadaDepartment of PathologyCHUM, Montréal, Quebec, CanadaDepartment of PediatricsCentre de Recherche
Awadalla P; Division of EndocrinologyDepartment of MedicineDivision of Medical GeneticsDepartment of Medicine, Centre de Recherche du Centre Hospitalier de l'Université de Montréal (CRCHUM), Montréal, Quebec, CanadaDepartment of PathologyCHUM, Montréal, Quebec, CanadaDepartment of PediatricsCentre de Recherche
Tremblay J; Division of EndocrinologyDepartment of MedicineDivision of Medical GeneticsDepartment of Medicine, Centre de Recherche du Centre Hospitalier de l'Université de Montréal (CRCHUM), Montréal, Quebec, CanadaDepartment of PathologyCHUM, Montréal, Quebec, CanadaDepartment of PediatricsCentre de Recherche
Hamet P; Division of EndocrinologyDepartment of MedicineDivision of Medical GeneticsDepartment of Medicine, Centre de Recherche du Centre Hospitalier de l'Université de Montréal (CRCHUM), Montréal, Quebec, CanadaDepartment of PathologyCHUM, Montréal, Quebec, CanadaDepartment of PediatricsCentre de Recherche
Fragoso MC; Division of EndocrinologyDepartment of MedicineDivision of Medical GeneticsDepartment of Medicine, Centre de Recherche du Centre Hospitalier de l'Université de Montréal (CRCHUM), Montréal, Quebec, CanadaDepartment of PathologyCHUM, Montréal, Quebec, CanadaDepartment of PediatricsCentre de Recherche
Lacroix A; Division of EndocrinologyDepartment of MedicineDivision of Medical GeneticsDepartment of Medicine, Centre de Recherche du Centre Hospitalier de l'Université de Montréal (CRCHUM), Montréal, Quebec, CanadaDepartment of PathologyCHUM, Montréal, Quebec, CanadaDepartment of PediatricsCentre de Recherche

Eur J Endocrinol ; 174(1): 85-96, 2016 Jan.

Article em En | MEDLINE | ID: mdl-26604299

Assuntos

Hiperplasia Suprarrenal Congênita/genética; Mutação em Linhagem Germinativa/genética; Hidrocortisona/metabolismo; Receptores Adrenérgicos beta/fisiologia; Receptores de Vasopressinas/fisiologia; Proteínas Supressoras de Tumor/genética; Glândulas Suprarrenais/patologia; Hiperplasia Suprarrenal Congênita/diagnóstico; Hiperplasia Suprarrenal Congênita/terapia; Adrenalectomia; Agonistas Adrenérgicos beta/farmacologia; Antagonistas Adrenérgicos beta/farmacocinética; Adulto; Idoso; Proteínas do Domínio Armadillo; Síndrome de Cushing/diagnóstico; Síndrome de Cushing/genética; Dexametasona/farmacologia; Humanos; Insulina/farmacologia; Isoproterenol/farmacologia; Pessoa de Meia-Idade; Linhagem; Postura; Propranolol/farmacologia; Quebeque; Tomografia Computadorizada por Raios X; Vasopressinas/farmacologia

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Hidrocortisona / Receptores Adrenérgicos beta / Receptores de Vasopressinas / Mutação em Linhagem Germinativa / Hiperplasia Suprarrenal Congênita / Proteínas Supressoras de Tumor Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Aged / Humans / Middle aged País/Região como assunto: America do norte Idioma: En Revista: Eur J Endocrinol Assunto da revista: ENDOCRINOLOGIA Ano de publicação: 2016 Tipo de documento: Article

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