Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Nadine Dumas"'
Autor:
Stefanie Parisien-La Salle, Nadine Dumas, Geneviève Rondeau, Mathieu Latour, Isabelle Bourdeau
Publikováno v:
Frontiers in Endocrinology, Vol 10 (2019)
Pheochromocytomas (PHEOs) are a rare cause of endocrine hypertension that requires genetic counseling since at least 30% of PHEOs are associated with a germline mutation in a susceptibility gene. Neurofibromatosis type 1, NF1 is amongst the 16 known
Externí odkaz:
https://doaj.org/article/17c4684534c243bfb92c74e25a89e9a2
Autor:
Stefanie Parisien-La Salle, Frédéric Mercier, Gilles Corbeil, Nadine Dumas, Franck Vandenbroucke-Menu, Hugues Widmer, Bich Ngoc Nguyen, Mathieu Latour, Isabelle Bourdeau
Publikováno v:
Journal of the Endocrine Society. 6:A63-A64
Introduction MAXpathogenic variants have been found to predispose to pheochromocytomas and paragangliomas (PPGLs) and more recently to pituitary tumors 1. Clinical Case A 30 yo man presented to the emergency department for diplopia and high blood pre
Autor:
Nadine Dumas, Karine Bédard, Judith Jolin, Jessica Moramarco, Isabelle Bourdeau, André Lacroix, Stefanie Parisien-La Salle, Nelly Burnichon, Isabelle Lévesque, Anne-Paule Gimenez-Roqueplo
Publikováno v:
Clinical endocrinologyREFERENCES. 96(6)
Objective Pheochromocytomas (PHEOs) and paragangliomas (PGLs), collectively known as PPGLs, are tumours with high heritability. The prevalence of germline mutations in apparently sporadic PPGLs varies depending on the study population. The objective
Publikováno v:
Journal of the Endocrine Society
Context. Approximately 50% of familial cases of primary bilateral macronodular adrenal hyperplasia (PBMAH) are caused by mutations in the ARMC5 gene. Case report. We report the case of a 37 year-old patient of Haitian origin, who presented with resis
Autor:
Anne-Paule Gimenez-Roqueplo, Serge Nolet, Nelly Burnichon, André Lacroix, Isabelle Lévesque, Judith Jolin, Stefanie Parisien-La Salle, Isabelle Bourdeau, Nadine Dumas
Publikováno v:
Journal of the Endocrine Society
Background: Pheochromocytomas (PHEOs) and paragangliomas (PGLs) (PPGLs) are rare tumors with a high heritability. The prevalence of germline mutations in sporadic PPGLs varies depending of series. Objective: To determine the prevalence and spectrum o
Autor:
Isabelle Lévesque, Jessica Moramarco, Stefanie Parisien-La Salle, Isabelle Bourdeau, Nadine Dumas, Anne-Paule Gimenez-Roqueplo, Nelly Burnichon, Karine Bédard, Judith Jolin, André Lacroix
Publikováno v:
Canadian Journal of Diabetes. 45:S19
Autor:
Serge Nolet, Emmanuel Khalifa, Isabelle Bourdeau, Nelly Burnichon, Solange Grunenwald, Anne-Paule Gimenez-Roqueplo, Nadine Dumas, Marie-Claire Binet
Publikováno v:
The Journal of Clinical Endocrinology and Metabolism
Background: More than 40% of patients with paragangliomas (PGLs) harbor a germline mutation of the known PGL susceptibility genes, mainly in the SDHB or SDHD genes. Objective: The objective of the study was to characterize the genetic background of t
Autor:
Serge Nolet, Zaki El-Haffaf, Nelly Burnichon, Jessica Moramarco, André Lacroix, Pavel Hamet, Nadine Dumas, Luce Boulanger, Nada El Ghorayeb, Anne-Paule Gimenez Roqueplo, Isabelle Bourdeau
Publikováno v:
Clinical endocrinology. 86(3)
SummaryIntroduction Guidelines do not currently recommend routine systematic hormonal screening for pheochromocytoma (PHEO) in all/normotensive patients with neurofibromatosis type 1 (NF1), in contrast to other PHEO-predisposing genetic syndromes suc
Publikováno v:
American Journal of Medical Genetics Part A. :406-411
We report on the fifth case, and oldest reported patient, of an individual affected with mosaic tetrasomy 5p resulting from an isochromosome 5p [i(5)(p10)] marker chromosome. A syndrome of mosaic tetrasomy 5p is defined, and includes the following fe
Autor:
Sonia Nizard, Daniel Sinnett, Marie-José Clermont, Amelie Rioux, Gale Stewart, Nadine Dumas, Linda Furlini, Jean-Marie Therrien, Michèle Marchand, Geneviève Cardinal, Nathalie Bolduc, Adrian Thorogood, Emily Kirby, Claudine Fecteau, Hugues Létourneau, Ma'n H. Zawati, Pavel Hamet, Shant Der Sarkissian, Sabrina Fortin, Karine Sénécal, Guillaume Sillon, Martin Hetu, Gurit Lotan, Zaki El Haffaf, Stéphanie Côté
Publikováno v:
SSRN Electronic Journal.
French Abstract: L’avenement des nouvelles technologies dans le milieu de la sante est souvent accueilli avec un certain scepticisme par la communaute medicale et ethico-juridique. En effet, la validite analytique et l’utilite clinique de ces out