Zobrazeno 1 - 10
of 43
pro vyhledávání: '"Bertrand Stos"'
Diagnosis of Menke‐Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs
Autor:
Guillaume Cogan, Nicolas Bourgon, Roxana Borghese, Emmanuel Julien, Aurélia Jaquette, Bertrand Stos, Amale Achaiaa, Sophie Chuon, Patrick Nitschke, Cécile Fourrage, Julien Stirnemann, Lucile Boutaud, Tania Attie‐Bitach
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 9, Pp n/a-n/a (2023)
Abstract Introduction CREBBP truncating mutations and deletions are responsible for the well‐known Rubinstein‐Taybi syndrome. Recently, a new, distinct CREBBP‐linked syndrome has been described: missense mutations located at the 3′ end of exo
Externí odkaz:
https://doaj.org/article/79a4b3e89846448e9a3d95301ed8bda3
Autor:
Romain Corroenne, Sophie Guiti Malekzadeh-Milani, Damien Bonnet, Bertrand Stos, Yves Ville, Julien Stirnemann
Publikováno v:
Gynécologie Obstétrique Fertilité & Sénologie. 50:553-558
Autor:
Romain, Corroenne, Sophie Guiti, Malekzadeh-Milani, Damien, Bonnet, Bertrand, Stos, Yves, Ville, Julien, Stirnemann
Publikováno v:
Gynecologie, obstetrique, fertilitesenologie. 50(7-8)
Aortic stenosis is a complex heart disease that involves the aortic valve and the left ventricle. Impairment of the left ventricle, abnormalities in its size, systolic and diastolic function determine the postnatal outcomes in the same way as the aor
Publikováno v:
American Journal of Obstetrics and Gynecology. 219:320-325
Sustained fetal tachyarrhythmia can evolve into a life-threatening condition in 40% of cases when hydrops develops, with a 27% risk of perinatal death. Several antiarrhythmic drugs can be given solely or in combination to the mother to achieve therap
Autor:
Hélène Maurey, Catherine Adamsbaum, Laurent Spelle, Marie-Victoire Senat, Pierre Tissières, Augustin Ozanne, Zied Merchaoui, Virginie Lambert, Phillippe Durand, Laetitia Giorgi, Jordi Miatello, Bertrand Stos, Claire Boithias, Guillaume Saliou, Luc Morin
Publikováno v:
The Journal of pediatrics. 218
Objectives To assess the management and outcomes of neonatal arteriovenous brain malformations (mostly vein of Galen malformations) complicated by cardiac failure in the era of prenatal diagnosis and endovascular treatment in a tertiary referral cent
Autor:
Kateri Levesque, Nathalie Morel, Alice Maltret, Gabriel Baron, Agathe Masseau, Pauline Orquevaux, Jean-Charles Piette, Francois Barriere, Jérome Le Bidois, Laurent Fermont, Olivier Fain, Arnaud Theulin, Francois Sassolas, Philippe Pezard, Zahir Amoura, Gaëlle Guettrot-Imbert, Delphine Le Mercier, Sophie Georgin-Lavialle, Christophe Deligny, Eric Hachulla, Luc Mouthon, Philippe Ravaud, Elisabeth Villain, Damien Bonnet, Nathalie Costedoat-Chalumeau, Holy Bezanahary, Boris Bienvenu, Gilles Blaison, Philippe Blanche, Bernard Bonnotte, Pascal Cathebras, Christine Christides, Fleur Cohen, Laurence Cohen, Edouard Devaud, Elisabeth Diot, Pierre Duhaut, Yves Dulac, Bertrand Godeau, Véronique Gournay, Céline Gronier, Loïc Guillevin, Mohamed Hamidou, Julien Haroche, Gilles Hayem, François Heitz, Richard Isnard, Moez Jallouli, Anne-Sophie Korganow, Claire Le Jeunne, François Lhote, Hugues Lucron, Jean-René Lusson, Suzel Magnier, Jacques Ninet, Nicolas Pangaud, Thomas Papo, Jean-Luc Pellegrin, Jean Loup Pennaforte, Jacques Pouchot, Françoise Sarrot-Reynauld, Nicolas Schleinitz, Pascal Seve, Bertrand Stos, Denis Vital-Durand, Bertrand Wechsler
Publikováno v:
Autoimmunity Reviews. 14:1154-1160
Cardiac neonatal lupus syndrome is due to anti-SSA or SSB antibodies and mainly includes congenital heart block (CHB) and dilated cardiomyopathy (DCM). Its optimal management is still debated. We report a large series of autoimmune high degree CHB.In
Autor:
Olivier Raisky, Pascal Vouhé, K. Mellul, Sophie Malekzadeh-Milani, Mathilde Meot, Olivier Villemain, M. Lévy, Daniela Laux, Zahra Belhadjer, Myriam Bensemlali, Fanny Bajolle, Damien Bonnet, E. Hery, Bertrand Stos, J. Le Bidois
Publikováno v:
Archives of Cardiovascular Diseases Supplements. 11:135-136
Background Prenatal diagnosis of transposition of the great arteries (TGA) reduces neonatal mortality and morbidity. The mortality of prenatally diagnosed TGA remains scarcely described. Objective To review the experience of prenatal diagnosis and in
Publikováno v:
Prenatal diagnosis.
Publikováno v:
Archives of Cardiovascular Diseases Supplements. 11:e392
Background Ventricular-arterial disproportion is a frequent observation in late gestation and mostly considered physiological. It is also an indirect prenatal sign for postnatal coarctation. Purpose To investigate the remnant risk for coarctation and
Autor:
Bertrand Stos, David Kalfa, Emre Belli, Enrique García, Régine Roussin, Margaux Pontailler, Mohamedou Ly, Virginie Lambert, Emmanuel Le Bret, André Capderou
Publikováno v:
European Journal of Cardio-Thoracic Surgery. 45:557-563
OBJECTIVES: Postoperative left atrioventricular valve (LAVV) dysfunction is known to be the principal risk factor influencing outcome after repair of all types of atrioventricular septal defect (AVSD). The purpose of the present study was to identify