Explanipedia

Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol) Open

Elodie Fiot, Bertille Alauze, Bruno Donadille, Dinane Samara‐Boustani, Muriel Houang , et al. · 2022

Screening of a Large Cohort of Asymptomatic <i>SDHx</i> Mutation Carriers in Routine Practice Open

Clotilde Saïe, Alexandre Buffet, J. Abeillon, D. Drui, Sophie Leboulleux , et al. · 2020

Context When an SDHx mutation is identified in a patient with a pheochromocytoma (PCC) or a paraganglioma (PGL), predictive genetic testing can detect mutation carriers that would benefit from screening protocols. Objective To define the t…

Référentiel de la Société francophone du diabète (SFD) : vaccination chez la personne diabétique Open

Laurence Dumeige, Livie Chatelais, Claire Bouvattier, Marc de Kerdanet, Capucine Hyon , et al. · 2020

Positive Impact of Genetic Test on the Management and Outcome of Patients With Paraganglioma and/or Pheochromocytoma Open

Alexandre Buffet, Laurène Ben Aim, Sophie Leboulleux, D. Drui, Delphine Vezzosi , et al. · 2019

Context Pheochromocytomas and paragangliomas (PPGLs) are characterized by a strong genetic component, with up to 40% of patients carrying a germline mutation in a PPGL susceptibility gene. International guidelines recommend that genetic sc…

Factors Affecting Loss to Follow-Up in Children and Adolescents with Chronic Endocrine Conditions Open

Laura Atger-Lallier, Sophie Guilmin‐Crépon, Priscilla Boizeau, Delphine Zénaty, Dominique Simon , et al. · 2019

Objective: Most children with endocrine diseases require long-term continuity of care. We investigated the prevalence of loss to follow-up (LTFU) in pediatric patients with chronic endocrine diseases and the risk factors asso…

Should 45,X/46,XY boys with no or mild anomaly of external genitalia be investigated and followed up? Open

Laurence Dumeige, Livie Chatelais, Claire Bouvattier, Marc de Kerdanet, Capucine Hyon , et al. · 2018

Objective Few studies of patients with a 45,X/46,XY mosaicism have considered those with normal male phenotype. The purpose of this study was to evaluate the clinical outcome of 45,X/46,XY boys born with normal or minor abnormalities of ex…

SFE/SFEDP adrenal insufficiency French consensus: Introduction and handbook Open

Yves Reznik, Pascal Barat, Jérôme Bertherat, Claire Bouvattier, Frédéric Castinetti , et al. · 2018

Mutations in BOREALIN cause thyroid dysgenesis Open

Aurore Carré, Athanasia Stoupa, Dulanjalee Kariyawasam, Manelle Guériouz, Cyrille Ramond , et al. · 2016

Congenital hypothyroidism is the most common neonatal endocrine disorder and is primarily caused by developmental abnormalities otherwise known as thyroid dysgenesis (TD). We performed whole exome sequencing (WES) in a consanguineous famil…

X-chromosome gene dosage as a determinant of impaired pre and postnatal growth and adult height in Turner syndrome Open

Elodie Fiot, Delphine Zénaty, Priscilla Boizeau, Jeremy Haigneré, Sophie Dos Santos , et al. · 2016

Spontaneous fertility and pregnancy outcomes amongst 480 women with Turner syndrome Open

Valérie Bernard, Bruno Donadille, Delphine Zénaty, Carine Courtillot, Sylvie Salenave , et al. · 2016

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Mutations in the maternally imprinted gene MKRN3 are common in familial central precocious puberty Open

Dominique Simon, Ibrahima Ba, Nancy Mekhail, Emmanuel Écosse, Anne Paulsen , et al. · 2015

Context and objective Idiopathic central precocious puberty (iCPP) is defined as early activation of the hypothalamic–pituitary–gonadal axis in the absence of identifiable central lesions. Mutations of the makorin RING finger 3 ( MKRN3 ) g…

Author and Subject Index Vol. 83, No. 2, 2015 Open

Stefano Stagi, Loredana Cavalli, L Congiu, Maria Flora Scusa, Alessandra Ferlini , et al. · 2015

Triiodothyronine-predominant Graves' disease in childhood: detection and therapeutic implications Open

Julie Harvengt, Priscilla Boizeau, Didier Chevenne, Delphine Zénaty, Anne Paulsen , et al. · 2015

Objective To assess in a pediatric population, the clinical characteristics and management of triiodothyronine-predominant Graves' disease (T 3 -P-GD), a rare condition well known in adults, but not previously described in children. Design…

Supplementary Material for: Natural History and Management of Congenital Hypothyroidism with in situ Thyroid Gland Open

Mireille Castanet, Alexandra Goischke, Juliane Léger, Caroline Thalassinos, Danielle Rodrigue , et al. · 2015

Background/Objective: Normally sited glands account for increasing congenital hypothyroidism (CH). Mechanisms often remain unknown. To report the incidence of CH with in situ thyroid gland (ISTG) and describe the natural hist…

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