Zobrazeno 1 - 10
of 41
pro vyhledávání: '"Julien, Saada"'
Autor:
Simon Garinet, Makan Rahshenas, Louise Galmiche-Rolland, Olivier Abbo, Arnaud Bonnard, Frédéric Hameury, Naziha Khen-Dunlop, Babak Khoshnood, Hélène Blons, Christophe Delacourt, Sabah Boudjemaa, Laure Choupeaux, Sophie Collardeau-Frachon, Virginie Fouquet, Edouard Habonimana, Erik Hervieux, Nathalie Lelong, Guillaume Levard, Thierry Jo Molina, Cecile Picard, Christophe Piolat, Rony Sfeir, Florence Biquard, Jean-Paul Bory, François Goffinet, Valat-Rigot As, Norbert Winer, Eve Mousty, Charles Muszynski, Alexandra Benachi, Laurent J. Salomon, Valérie Goua, Jean-Marie Jouannic, Gwenaelle Le Bouar, Jérôme Massardier, Jonathan Rosenblatt, Agnès Sartor, Catherine Thong-Vanh, Fabienne Prieur, Thibaud Quibel, Claudine Touboul, Jean Gondry, Loic Sentilhes, Valérie Bonfiglioli, Lionel Carbillon, Anne-Helene Saliou, Julien Saada, Alexandra Letourneau, Helene Laurichesse, Carole Egron, Loren Deslandes, Vanina Castaigne, Claire Dazel-Salonne, Julien Stirnemann, Philippe Roth, Thierry Bultez, Yves Ville, Vassilis Tsatsaris, Lucie Guilbaud, Anne-Marie Darras, Jean-Francois Oury, Cecile Fanget, Romain Favre, Anne Paris, Franck Perrotin, Nathalie Banaszkiewicz, Thameur Rakza, Mathieu Morin, Cynthia Trastour, Nicolas Mottet, Frederic Coatleven, Elisabeth Alanio, Olivier Morel, Estelle Perdriolle, Marie-Laure Eszto-Cambon, Insaf Berrazaga, Guillaume Podevin, Hala Feghali, Caroline Thumerelle, Rafaelle Mangione, Marie-Noelle Lebras, Héloise Ducoin, Bernard Romeo, Philippe Buisson, Pierrick Cros, Léa Roditis, Hiline Devries, Jacques Brouard, Thierry Petit, Isabelle Petit, Adam Kandem Simo, Maguelonne Pons, Olivier Jaby, Catherine Llerena, Edith Sabatier, Guillaune Thouvenin, Michele Larroquet, Sabine Irtan, Christine Grapin, Caroline Parico, François Varlet, Jacqueline Matis, François Becmeur, Isabelle Gibertini, Hubert Lardy, Stephan Denapolicocci, Antoine Deschildre, Jean Breaud, Jean-François Lecompte, Arnaud Fotso Kamdem, Frédéric Elbaz, Frédéric Lavrand, Mickael Pomedio, Francis Lefebvre, Jean Louis Lemelle, Vladimir Gomola, Clementine Vigier, Isabelle Monier
Publikováno v:
American journal of respiratory and critical care medicine.
Autor:
Marie-Emmanuelle Naud, Lucie Tosca, Jelena Martinovic, Julien Saada, Corinne Métay, Loïc Drévillon, Virginie Benoit, Sophie Brisset, Gérard Tachdjian
Publikováno v:
Case Reports in Genetics, Vol 2017 (2017)
Interstitial 17q24.1 or 17q24.2 deletions were reported after conventional cytogenetic analysis or chromosomal microarray analysis in patients presenting intellectual disability, facial dysmorphism, and/or malformations. We report on a fetus with cra
Externí odkaz:
https://doaj.org/article/c2c686b160e74fecb81c30866e115d0a
Publikováno v:
Gynécologie Obstétrique Fertilité & Sénologie. 49:143-146
Autor:
Marta Massimello, Delphine Héron, Tania Attié-Bitach, Myrtille Spentchian, Anne Faudet, Marie-Amélie Rocchisanni, Laurent Mandelbrot, Alexandra Benachi, Julien Saada, Florence Bretelle, Stéphanie Friszer, Paul Maurice, Catherine Garel, Julien Buratti, Mathilde Nizon, Valérie Layet, Jean-Marie Jouannic, Thierry Billette de Villemeur, Corinne Mach, Mathieu Milh, Lucie Guilbaud, Stéphanie Valence, Agnès Guët, Genevieve Quenum‐Miraillet, Sébastien Moutton, Rodolphe Dard, Sandra Chantot-Bastaraud, Valérie Olin, Magali Gorce, Daphné Lehalle, Marta Spodenkiewic, Marie-Laure Moutard, Linda Mouthon, Solveig Heide, Elodie Lejeune, Vassili Tsatsaris, Claire Beneteau, Marie Vincent, Laurent Guibaud, Sandra Whalen, Cyril Mignot, Vincent des Portes, Eléonore Blondiaux, Mathilde Lefebvre, Audrey Putoux, Boris Keren
Publikováno v:
Genetics in Medicine
Genetics in Medicine, 2020, 22 (11), pp.1887-1891. ⟨10.1038/s41436-020-0872-8⟩
Genetics in Medicine, 2020, 22 (11), pp.1887-1891. ⟨10.1038/s41436-020-0872-8⟩
International audience; Purpose: Abnormality of the corpus callosum (AbnCC) is etiologically a heterogeneous condition and the prognosis in prenatally diagnosed cases is difficult to predict. The purpose of our research was to establish the diagnosti
Autor:
Annie Laquerrière, Florent Marguet, Jelena Martinovic, Catherine Fallet-Bianco, Dana Jaber, Cyril Gitiaux, David Buard, Anna Kaminska, Judith Melki, Sophie Blesson, Julien Saada, Maritzaida Varela Salgado
Publikováno v:
Journal of Medical Genetics. 58:737-742
BackgroundArthrogryposis multiplex congenita (AMC) is the direct consequence of reduced fetal movements. AMC includes a large spectrum of diseases which result from variants in genes encoding components required for the formation or the function of t
Autor:
Ivo Gut, Sarah Grotto, Céline Bellesme, Arnold Munnich, Cyril Gitiaux, Jeanne Amiel, Chloé Quélin, Annie Laquerrière, Suonavy Khung, Hanitra Ranjatoelina-Randrianaivo, Luc Rigonnot, Christine Francannet, Loic Quevarec, Jérôme Bouligand, Fabienne Prieur, Alexandra Benachi, Valérie Cormier-Daire, Laurence Perrin, Judith Melki, Pierre-Simon Jouk, Flora Nolent, Tania Attié-Bitach, Delphine Héron, Marie-Line Jacquemont, Claire Beneteau, Fabien Guimiot, Laetitia Lambert, Sandra Mercier, Valérie Biancalana, Fanny Laffargue, Elise Boucher, Jean-Louis Bessereau, P. Landrieu, Annick Toutain, Alain Verloes, Alice Goldenberg, Philippe Latour, Dominique Martin-Coignard, Anne Guiochon-Mantel, Dan Mejlachowicz, Damien Sternberg, Haluk Topaloglu, Bruno Eymard, Géraldine Viot, Catherine Fallet-Bianco, Julien Saada, Isabelle Desguerre, Marie-Hélène Saint-Frison, Catherine Vincent-Delorme, Sophie Blesson, Radka Stoeva, Alexandre J. Vivanti, Martine Bucourt, Pascaline Letard, Jérome Maluenda, Laurence Loeuillet, Lionel Van Maldergem, Didier Lacombe, Marcel Tawk, Michèle Granier, Stanislas Lyonnet, Anne-Lise Delezoide, Andrée Delahaye-Duriez, André Mégarbané, Marie Gonzales, Florence Petit, Juliette Piard, Laurence Faivre, Helene Verhelst, Bettina Bessières, Sabine Sigaudy, Sandra Whalen, Valérie Layet, Yline Capri, Fanny Pelluard, Emanuela Abiusi, Klaus Dieterich, Marie Vincent, Marine Legendre, Dana Jaber, Romulus Grigorescu, Florent Marguet, Eric Bieth, Helge Amthor, Christine Barnerias, Estelle Colin, Laetitia Trestard, Mathilde Nizon, Jelena Martinovic, Daniel Amram, Nicoletta Resta
Publikováno v:
JOURNAL OF MEDICAL GENETICS
BackgroundArthrogryposis multiplex congenita (AMC) is characterised by congenital joint contractures in two or more body areas. AMC exhibits wide phenotypic and genetic heterogeneity. Our goals were to improve the genetic diagnosis rates of AMC, to e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e5ca5c2b4280785da88a26155872ce7
https://hdl.handle.net/1854/LU-8759575
https://hdl.handle.net/1854/LU-8759575
Autor:
Prakesh S. Shah, Rodrigo Ruano, Magda Sanz Cortes, Alexandra Benachi, Greg Ryan, Anthony Johnson, Xiang Y. Ye, Julien Saada, Haleh Sangi-Haghpeykar, Nimrah Abbasi
Publikováno v:
Prenatal Diagnosis. 39:188-194
Objective To determine the antenatal sonographic lung area measurement method in left congenital diaphragmatic hernia (CDH) with the highest interrater agreement among North American Fetal Therapy Network (NAFTNet) centers within and outside the feto
Autor:
Jonathan Lévy, Jean-Marie Jouannic, Julien Saada, Ferdinand Dhombres, Jean-Pierre Siffroi, Marie-France Portnoï
Publikováno v:
Case Reports in Genetics, Vol 2013 (2013)
Ectrodactyly or split hand and foot malformations (SHFMs) are rare malformations of the limbs, characterized by median clefts of the hands and feet, syndactyly, and aplasia and/or hypoplasia of the phalanges. They represent a clinically and genetical
Externí odkaz:
https://doaj.org/article/0c4430378d854e8c80781c90a53b3b34
Autor:
Lina Bejjani, Aurore Bonnin, Alexandra Letourneau, Julien Saada, Alexandre J. Vivanti, Laurent Bidat, Anne-Gaël Cordier, Alexandra Benachi, Aline Receveur, Julie Carrara
Publikováno v:
Journal of gynecology obstetrics and human reproduction. 50(4)
Introduction Amniocentesis and chorionic villus sampling remain the cornerstone of prenatal diagnosis. These procedures are associated with a risk of miscarriage estimated at approximately 0.5 %. Our team has developed a training model for performing
Autor:
Dana, Jaber, Cyril, Gitiaux, Sophie, Blesson, Florent, Marguet, David, Buard, Maritzaida, Varela Salgado, Anna, Kaminska, Julien, Saada, Catherine, Fallet-Bianco, Jelena, Martinovic, Annie, Laquerriere, Judith, Melki
Publikováno v:
Journal of Medical Genetics
Background Arthrogryposis multiplex congenita (AMC) is the direct consequence of reduced fetal movements. AMC includes a large spectrum of diseases which result from variants in genes encoding components required for the formation or the function of