المؤلفون: La Conception Hospital - Marseille - France, Public Assistance - Marseille Hospitals, Aix Marseille Université

المصدر: Quality of Life Assessment of Women Undergoing Laparoscopic Removal of Essure System : a Before-and-after Study

المؤلفون: Ben Aim, Laurene, MAHER, EAMONN, Cascon, Alberto, Barlier, Anne, Giraud, Sophie, Ercolino, Tonino, Toledo, Rodrigo

المساهمون: Institut Català de la Salut, Ben Aim L Genetics Department, Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Européen Georges Pompidou, Paris, France. Maher ER Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre, Cambridge, UK. Cascon A Hereditary Endocrine Cancer Group, CNIO, Madrid, Spain. Barlier A Laboratory of Molecular Biology, La Conception Hospital, Marseille, France. Giraud S Department of Genetics, Hospices Civils de Lyon, Bron, France. Ercolino T Endocrinology Unit, Azienda Ospedaliero-Universitaria Careggi, Firenze, Italy. Toledo RA CIBERONC, Gastrointestinal and Endocrine Tumors, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus

المصدر: Scientia

مصطلحات موضوعية: Cromosomes humans - Anomalies - Diagnòstic, Glàndules suprarenals - Malalties - Aspectes genètics, Tumors neuroendocrins - Aspectes genètics, DISEASES::Neoplasms::Neoplasms by Histologic Type::Neoplasms, Germ Cell and Embryonal::Neuroectodermal Tumors::Neuroendocrine Tumors::Paraganglioma, Germ Cell and Embryonal::Neuroectodermal Tumors::Neuroendocrine Tumors::Paraganglioma::Pheochromocytoma, DISEASES::Neoplasms::Neoplasms by Site::Endocrine Gland Neoplasms::Adrenal Gland Neoplasms, ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Diagnosis::Diagnostic Techniques and Procedures::Clinical Laboratory Techniques::Genetic Testing, ENFERMEDADES::neoplasias::neoplasias por tipo histológico::neoplasias de células germinales y embrionarias::tumores neuroectodérmicos::tumores neuroendocrinos::paraganglioma, ENFERMEDADES::neoplasias::neoplasias por tipo histológico::neoplasias de células germinales y embrionarias::tumores neuroectodérmicos::tumores neuroendocrinos::paraganglioma::feocromocitoma, ENFERMEDADES::neoplasias::neoplasias por localización::neoplasias de las glándulas endocrinas::neoplasias de las glándulas suprarrenales, TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::técnicas y procedimientos diagnósticos::técnicas de laboratorio clínico::pruebas genéticas

وصف الملف: application/pdf

Relation: Journal of Medical Genetics;59(8); http://dx.doi.org/10.1136/jmedgenet-2020-107652; Ben Aim L, Maher ER, Cascon A, Barlier A, Giraud S, Ercolino T, et al. International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma. J Med Genet. 2022 Aug;59(8):785–92.; https://hdl.handle.net/11351/9696; 000725039500001

الاتاحة: https://hdl.handle.net/11351/9696
https://doi.org/10.1136/jmedgenet-2020-107652

المؤلفون: Judith Favier, Patricia L. M. Dahia, Anne-Paule Gimenez-Roqueplo, Pascal Pigny, Jean-Pierre Bayley, Amira Mohamed, Delphine Mirebeau-Prunier, Mercedes Robledo, Rodrigo A. Toledo, Nelly Burnichon, Anne Barlier, Francesca Schiavi, Roderick J. Clifton-Bligh, Alberto Cascón, Sophie Giraud, Laurene Ben Aim, Tonino Ercolino, Eamonn R. Maher

المساهمون: Institut Català de la Salut, [Ben Aim L] Genetics Department, Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Européen Georges Pompidou, Paris, France. [Maher ER] Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre, Cambridge, UK. [Cascon A] Hereditary Endocrine Cancer Group, CNIO, Madrid, Spain. [Barlier A] Laboratory of Molecular Biology, La Conception Hospital, Marseille, France. [Giraud S] Department of Genetics, Hospices Civils de Lyon, Bron, France. [Ercolino T] Endocrinology Unit, Azienda Ospedaliero-Universitaria Careggi, Firenze, Italy. [Toledo RA] CIBERONC, Gastrointestinal and Endocrine Tumors, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, Maher, Eamonn R [0000-0002-6226-6918], Pigny, Pascal [0000-0003-3926-4487], Bayley, Jean Pierre [0000-0002-8288-0050], Burnichon, Nelly [0000-0001-7972-5845], Apollo - University of Cambridge Repository

المصدر: Scientia
Journal of Medical Genetics. BMJ PUBLISHING GROUP
Journal of Medical Genetics

مصطلحات موضوعية: medicine.medical_specialty, Neoplasms::Neoplasms by Histologic Type::Neoplasms, Germ Cell and Embryonal::Neuroectodermal Tumors::Neuroendocrine Tumors::Paraganglioma::Pheochromocytoma [DISEASES], databases, SDHB, Adrenal Gland Neoplasms, human genetics, Neoplasms::Neoplasms by Histologic Type::Neoplasms, Germ Cell and Embryonal::Neuroectodermal Tumors::Neuroendocrine Tumors::Paraganglioma [DISEASES], Context (language use), adrenal gland diseases, Pheochromocytoma, computer.software_genre, Glàndules suprarenals - Malalties - Aspectes genètics, genetic testing, Paraganglioma, neoplasias::neoplasias por tipo histológico::neoplasias de células germinales y embrionarias::tumores neuroectodérmicos::tumores neuroendocrinos::paraganglioma::feocromocitoma [ENFERMEDADES], Diagnosis::Diagnostic Techniques and Procedures::Clinical Laboratory Techniques::Genetic Testing [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT], Genetics, medicine, Humans, Cancer genetics, Genetics (clinical), Germ-Line Mutation, Genetic testing, Hereditary Paraganglioma, Database, medicine.diagnostic_test, neoplasias::neoplasias por localización::neoplasias de las glándulas endocrinas::neoplasias de las glándulas suprarrenales [ENFERMEDADES], business.industry, neoplasias::neoplasias por tipo histológico::neoplasias de células germinales y embrionarias::tumores neuroectodérmicos::tumores neuroendocrinos::paraganglioma [ENFERMEDADES], Cromosomes humans - Anomalies - Diagnòstic, diagnóstico::técnicas y procedimientos diagnósticos::técnicas de laboratorio clínico::pruebas genéticas [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS], medicine.disease, Human genetics, Succinate Dehydrogenase, genetic variation, Medical genetics, genetic, Leiden Open Variation Database, business, Neoplasms::Neoplasms by Site::Endocrine Gland Neoplasms::Adrenal Gland Neoplasms [DISEASES], computer, Tumors neuroendocrins - Aspectes genètics

وصف الملف: application/pdf; text/xml

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27bcc940176677a14752394cc9be5864
https://hdl.handle.net/11351/9696