Search Results - Catherine Vincent‐Delorme
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1
Ten novel<i>FBN2</i>mutations in congenital contractural arachnodactyly: Delineation of the molecular pathogenesis and clinical phenotype by Prateek Gupta, Elizabeth A. Putnam, Sonya G. Carmical, Ilkka Kaitila, Beat Steinmann, Anne H. Child, Cesare Danesino, Kay Metcalfe, Susan A. Berry, Emily Chen, Catherine Vincent Delorme, Meow‐Keong Thong, Lesley C. Adès, Dianna M. Milewicz
Published 2001Artigo -
2
Absent <scp>CNKSR</scp>2 causes seizures and intellectual, attention, and language deficits by Andrea K. Vaags, Sarah Bowdin, Mary‐Lou Smith, Brigitte Gilbert‐Dussardier, Katja S. Brocke‐Holmefjord, Katia J. Sinopoli, Cindy Gilles, Tove B. Haaland, Catherine Vincent‐Delorme, Emmanuelle Lagrue, Radu Harbuz, Susan Walker, Christian R. Marshall, Gunnar Houge, Vera M. Kalscheuer, Stephen W. Scherer, Berge A. Minassian
Published 2014Artigo -
3
Targeted resequencing identifies <i>PTCH1</i> as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network by Nicolas Chassaing, Erica E. Davis, Kelly McKnight, Adrienne R. Niederriter, Alexandre Causse, Véronique David, Annaïck Desmaison, Sophie Lamarre, Catherine Vincent‐Delorme, Laurent Pasquier, Christine Coubes, Didier Lacombe, Massimiliano Rossi, Jean‐Louis Dufier, Hélène Dollfus, Josseline Kaplan, Nicholas Katsanis, Heather Etchevers, Stanislas Faguer, Patrick Calvas
Published 2016Artigo -
4
<i>AP2M1</i> Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions by Russell Gear, Paul Kalitsis, Melissa Glass, Bertrand Isidor, Catherine Vincent‐Delorme, Florence Petit, Judith M.A. Verhagen, Alexander A.L. Jorge, Ana Cristina Victorino Krepischi, Ikeoluwa Osei‐Owusu, Emilio A. Martı́nez, Anne O’Donnell‐Luria, Nicole de Leeuw, Sarah Ruggiero, Ingo Helbig, David S. Francis, Natasha J. Brown
Published 2025Artigo -
5
TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons by Xavier Caubit, Paolo Gubellini, Joris Andrieux, Pierre L. Roubertoux, Mehdi Metwaly, Bernard Jacq, Ahmed Fatmi, Laurence Had‐Aissouni, Kenneth Y. Kwan, Pascal Salin, Michèle Carlier, Agne Liedén, Eva Rudd, Marwan Shinawi, Catherine Vincent‐Delorme, J. Cuisset, Marie Pierre Lemaitre, Fatimetou Abderrehamane, Bénédicte Duban, Jean François Lemaitre, Adrian S. Woolf, Detlef Böckenhauer, Dany Séverac, Emeric Dubois, Ying Zhu, Nenad Šestan, Alistair N. Garratt, Lydia Kerkerian‐Le Goff, Laurent Fasano
Published 2016Artigo -
6
Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum by Victoria Parker, Kim M. Keppler‐Noreuil, Laurence Faivre, Maxime Luu, Neal L. Oden, Leena De Silva, Julie C. Sapp, Katrina Andrews, Marc Bardou, Kong Y. Chen, Thomas N. Darling, Élodie Gautier, Barry R. Goldspiel, S. Hadj‐Rabia, Julie Harris, Georgios Kounidas, Parag Kumar, Marjorie J. Lindhurst, Romaric Loffroy, Ludovic Martin, Alice Phan, Kristina I. Rother, Brigitte C. Widemann, Pamela L. Wolters, Christine Coubes, Lucile Pinson, Marjolaine Willems, Catherine Vincent‐Delorme, P. Vabres, Robert K. Semple, Leslie G. Biesecker
Published 2018Artigo -
7
A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder by Justin O. Szot, Hartmut Cuny, Ella MMA Martin, Delicia Z Sheng, Kavitha R. Iyer, Stephanie Portelli, Vivien Nguyen, Jessica Gereis, Dimuthu Alankarage, David Chitayat, Karen Chong, Ingrid M. Wentzensen, Catherine Vincent‐Delorme, Alban Lermine, Emma Burkitt‐Wright, Weizhen Ji, Lauren Jeffries, Lynn Pais, Tiong Yang Tan, James Pitt, C. Wise, Helen Wright, Israel D. Andrews, Brianna Pruniski, Theresa A. Grebe, Nicole Corsten‐Janssen, Katelijne Bouman, Cathryn Poulton, Supraja Prakash, Boris Keren, Natasha J. Brown, Matthew F. Hunter, Oliver Heath, Saquib A. Lakhani, John McDermott, David B. Ascher, Gavin Chapman, Kayleigh Bozon, Sally L. Dunwoodie
Published 2024Artigo -
8
The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands by Aude Rocatcher, Valérie Desquiret‐Dumas, Majida Charif, Marc Ferré, Philippe Gohier, Delphine Mirebeau‐Prunier, Christophe Verny, Dan Miléa, Guy Lenaers, Catherine Vignal, Cédric Lamirel, Rabih Hage, Hélène Dollfus, Isabelle Meunier, Xavier Zanlonghi, Valérie Touitou, Pierre Lebranchu, Sylvie Odent, Caroline Froment Tilikete, L. Jeanjean, Sabine Defoort‐Dhellemmes, Isabelle Drumare-Bouvet, Vasily Smirnov, Catherine Vincent-Delorme, Damien Biotti, Fanny Varenne, Patrick Calvas, Nicolas Chassaing, Mikaël Cohen, Christophe Orssaud, Fanny Mochel, Agathe Roubertie, Annick Toutain, Frédéric Pollet-Villard, Marie Noelle Bonnet Dupeyron, Céline Boulicot, Béatrice Cochener, Alice Goldenberg, Marie Line Jacquemont, Christine Francannet, Dominique Bonneau, Pascal Reynier, Patrizia Amati‐Bonneau
Published 2022Artigo -
9
Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome by Marine Legendre, Véronique Abadie, Tania Attié‐Bitach, Nicole Philip, Tiffany Busa, Dominique Bonneau, Estelle Colin, Hélène Dollfus, Didier Lacombe, Annick Toutain, Sophie Blesson, Sophie Julia, Dominique Martin–Coignard, David Geneviève, Bruno Leheup, Sylvie Odent, Pierre‐Simon Jouk, Sandra Mercier, Laurence Faivre, Catherine Vincent‐Delorme, Christine Francannet, Sophie Naudion, Michèle Mathieu‐Dramard, Marie‐Ange Delrue, Alice Goldenberg, Delphine Héron, Philippe Parent, Renaud Touraine, Valérie Layet, Damien Sanlaville, Chloé Quēlin, Sébastien Moutton, Mélanie Fradin, Aurélia Jacquette, Sabine Sigaudy, Lucile Pinson, Pierre Sarda, Anne‐Marie Guerrot, Massimiliano Rossi, Alice Masurel‐Paulet, Salima El Chehadeh, Xavier Piguel, Montserrat Rodriguez‐Ballesteros, Stéphanie Ragot, Stanislas Lyonnet, Frédéric Bilan, Brigitte Gilbert‐Dussardier
Published 2017Artigo -
10
New insights into genotype–phenotype correlation for GLI3 mutations by Florence Démurger, Amale Ichkou, Soumaya Mougou-Zerelli, Martine Le Merrer, Géraldine Goudefroye, Anne‐Lise Delezoide, Chloé Quēlin, Sylvie Manouvrier, Geneviève Baujat, Mélanie Fradin, Laurent Pasquier, André Mégarbané, Laurence Faivre, Clarisse Baumann, Sheela Nampoothiri, J. Roume, Bertrand Isidor, Didier Lacombe, Marie‐Ange Delrue, Sandra Mercier, Nicole Philip, Élise Schaefer, Muriel Holder, Amanda Krause, Fanny Laffargue, Martine Sinico, Daniel Amram, Gwenaëlle André, Alain Liquier, Massimiliano Rossi, Jeanne Amiel, Fabienne Giuliano, Odile Boute, Anne Dieux‐Coëslier, Marie‐Line Jacquemont, Alexandra Afenjar, Lionel Van Maldergem, Marylin Lackmy-Port-Lis, Catherine Vincent- Delorme, Marie-Liesse Chauvet, Valérie Cormier‐Daire, Louise Devisme, David Geneviève, Arnold Münnich, Géraldine Viot, O Raoul, Serge Romana, Marie Gonzalès, Férechté Encha‐Razavi, Sylvie Odent, Michel Vekemans, Tania Attié‐Bitach
Published 2014Artigo -
11
Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing by Paul Kuentz, Judith St‐Onge, Yannis Duffourd, Jean‐Benoît Courcet, Virginie Carmignac, Thibaud Jouan, Arthur Sorlin, C. Abasq‐Thomas, Juliette Albuisson, Jeanne Amiel, Daniel Amram, Stéphanie Arpin, Tania Attié‐Bitach, Nadia Bahi‐Buisson, S. Barbarot, Geneviève Baujat, D. Bessis, O. Boccara, Maryse Bonnière, Odile Boute, A.‐C. Bursztejn, C. Chiavérini, Valérie Cormier‐Daire, Christine Coubes, Bruno Delobel, Patrick Edery, Salima El Chehadeh, Christine Francannet, David Geneviève, Alice Goldenberg, Damien Haye, Bertrand Isidor, Marie‐Line Jacquemont, Philippe Khau Van Kien, Didier Lacombe, Ludovic Martin, Jéléna Martinovic, A. Maruani, Michèle Mathieu‐Dramard, J. Mazereeuw‐Hautier, Caroline Michot, Cyril Mignot, J. Miquel, Fanny Morice‐Picard, Florence Petit, Alice Phan, Massimiliano Rossi, Renaud Touraine, Alain Verloès, Marie Vincent, Catherine Vincent‐Delorme, Sandra Whalen, Marjolaine Willems, Nathalie Marle, Daphné Lehalle, Julien Thévenon, Christel Thauvin‐Robinet, S. Hadj‐Rabia, Laurence Faivre, P. Vabres, Jean-Baptiste Rivière
Published 2017Artigo -
12
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome by Federico Tessadori, Karen Duran, Karen Knapp, Matthias Fellner, Sarah Smithson, Ana Beleza‐Meireles, Mariet W. Elting, Quinten Waisfisz, Anne O’Donnell‐Luria, C. Nowak, Jessica Douglas, Anne Ronan, Theresa Brunet, Urania Kotzaeridou, Shayna Svihovec, Margarita Sáenz, Isabelle Thiffault, Florencia Del Viso, Patrick Devine, Shannon Rego, Jessica Tenney, Arie van Haeringen, Claudia Ruivenkamp, Saskia Koene, Stephen P. Robertson, Charulata Deshpande, Rolph Pfundt, Nienke E. Verbeek, Jiddeke M. van de Kamp, Janneke M.M. Weiss, Anna Ruiz, Elisabeth Gabau, Ehud Banne, Alexander Pepler, Armand Bottani, Sacha Laurent, Michel Guipponi, Emilia Bijlsma, Ange‐Line Bruel, Arthur Sorlin, Mary Willis, Zöe Powis, Thomas Smol, Catherine Vincent‐Delorme, Diana Baralle, Estelle Colin, Nicole Revençu, Eduardo Calpena, Andrew O.M. Wilkie, Maya Chopra, Valérie Cormier‐Daire, Boris Keren, Alexandra Afenjar, Marcello Niceta, Antonio Terracciano, Nicola Specchio, Marco Tartaglia, Marlène Rio, Giulia Barcia, Sophie Rondeau, Cindy Colson, Jeroen Bakkers, Peter D. Mace, Louise S. Bicknell, Gijs van Haaften
Published 2022Artigo -
13
Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool by Frédéric Tran Mau‐Them, Julian Delanne, Anne‐Sophie Denommé‐Pichon, Hana Safraou, Ange‐Line Bruel, Antonio Vitobello, Aurore Garde, Sophie Nambot, Nicolas Bourgon, Caroline Racine, Arthur Sorlin, Sébastien Moutton, Nathalie Marle, Thierry Rousseau, Paul Sagot, Emmanuel Simon, Catherine Vincent‐Delorme, Odile Boute, Cindy Colson, Florence Petit, Marine Legendre, Sophie Naudion, Caroline Rooryck, Clément Prouteau, Estelle Colin, Agnès Guichet, Alban Ziegler, Dominique Bonneau, Godeliève Morel, Mélanie Fradin, Alinoë Lavillaureix, Chloé Quēlin, Laurent Pasquier, Sylvie Odent, Gabriella Vera, Alice Goldenberg, Anne‐Marie Guerrot, Anne‐Claire Bréhin, Audrey Putoux, Jocelyne Attia, Carine Abel, Patricia Blanchet, Constance Wells, Caroline Deiller, Mathilde Nizon, Sandra Mercier, Marie Vincent, Bertrand Isidor, Jeanne Amiel, Rodolphe Dard, Manon Godin, Nicolas Gruchy, Médéric Jeanne, Elise Schaeffer, Pierre‐Yves Maillard, Frédérique Payet, Marie‐Line Jacquemont, Christine Francannet, Sabine Sigaudy, Marine Bergot, Émilie Tisserant, Marie-Laure Ascencio, Christine Binquet, Yannis Duffourd, Christophe Philippe, Laurence Faivre, Christel Thauvin‐Robinet
Published 2023Artigo -
14
Further delineation of the<i>MECP2</i>duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features by Marguerite Miguet, Laurence Faivre, Jeanne Amiel, Mathilde Nizon, Renaud Touraine, Fabienne Prieur, Laurent Pasquier, Mathilde Lefebvre, Julien Thévenon, Christèle Dubourg, Sophie Julia, Catherine Sarret, Ganaëlle Remérand, Christine Francannet, Fanny Laffargue, Odile Boespflug‐Tanguy, Albert David, Bertrand Isidor, Jacqueline Vigneron, Bruno Leheup, Laëtitia Lambert, Christophe Philippe, Mylène Béri‐Dexheimer, Jean‐Marie Cuisset, Joris Andrieux, Ghislaine Plessis, Annick Toutain, Laurent Guibaud, Valérie Cormier‐Daire, Marlène Rio, Jean‐Paul Bonnefont, Bernard Échenne, Hubert Journel, Lydie Bürglen, Sandra Chantot‐Bastaraud, Thierry Bienvenu, Clarisse Baumann, Laurence Perrin, Séverine Drunat, Pierre‐Simon Jouk, Klaus Dieterich, Françoise Devillard, Didier Lacombe, Nicole Philip, Sabine Sigaudy, Anne Moncla, Chantal Missirian, Catherine Badens, Nathalie Perreton, Christel Thauvin‐Robinet, Réseau AChro-Puce, Jean‐Michel Pédespan, Caroline Rooryck, Cyril Goizet, Catherine Vincent‐Delorme, Bénédicte Duban‐Bedu, Nadia Bahi‐Buisson, Alexandra Afenjar, Kim Maincent, Delphine Héron, Jean‐Luc Alessandri, Dominique Martin–Coignard, Gaëtan Lesca, Massimiliano Rossi, Martine Raynaud, Patrick Callier, Anne‐Laure Mosca‐Boidron, Nathalie Marle, Charles Coutton, Véronique Satre, Cédric Le Caignec, Valérie Malan, Serge Romana, Boris Keren, Anne‐Claude Tabet, Valérie Kremer, Sophie Scheidecker, Adeline Vigouroux, Marilyn Lackmy-Port-Lis, Damien Sanlaville, Marianne Till, Maryline Carneiro, Brigitte Gilbert‐Dussardier, Marjolaine Willems, Hilde Van Esch, Vincent des Portes, Salima El Chehadeh
Published 2018Artigo -
15
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita by Annie Laquerrière, Dana Jaber, Emanuela Abiusi, Jérôme Maluenda, Dan Mejlachowicz, Alexandre Vivanti, Klaus Dieterich, Radka Stoeva, Loïc Quevarec, Flora Nolent, Valérie Biancalana, Philippe Latour, Damien Sternberg, Yline Capri, Alain Verloès, Bettina Bessières, Laurence Lœuillet, Tania Attié‐Bitach, Jéléna Martinovic, Sophie Blesson, Florence Petit, Claire Bénéteau, Sandra Whalen, Florent Marguet, Jérôme Bouligand, Delphine Héron, Géraldine Viot, Jeanne Amiel, Daniel Amram, Céline Bellesme, Martine Bucourt, Laurence Faivre, Pierre‐Simon Jouk, Suonavy Khung, Sabine Sigaudy, Anne‐Lise Delezoide, Alice Goldenberg, Marie‐Line Jacquemont, Laëtitia Lambert, Valérie Layet, Stanislas Lyonnet, Arnold Münnich, Lionel Van Maldergem, Juliette Piard, Fabien Guimiot, P. Landrieu, Pascaline Létard, Fanny Pelluard, Laurence Perrin, Marie‐Hélène Saint‐Frison, Haluk Topaloğlu, Laetitia Trestard, Catherine Vincent‐Delorme, Helge Amthor, Christine Barnérias, Alexandra Benachi, Éric Bieth, Elise Boucher, Valérie Cormier‐Daire, Andrée Delahaye‐Duriez, Isabelle Desguerre, B. Eymard, Christine Francannet, Sarah Grotto, Didier Lacombe, Fanny Laffargue, Marine Legendre, Dominique Martin–Coignard, André Mégarbané, Sandra Mercier, Mathilde Nizon, Luc Rigonnot, Fabienne Prieur, Chloé Quēlin, Hanitra Ranjatoelina-Randrianaivo, Nicoletta Resta, Annick Toutain, Hélène Verhelst, Marie Vincent, Estelle Colin, Catherine Fallet‐Bianco, Michèle Granier, R Grigorescu, Julien Saada, Marie Gonzalès, Anne Guiochon‐Mantel, Jean‐Louis Bessereau, Marcel Tawk, Marta Gut, Cyril Gitiaux, Judith Melki
Published 2021Artigo -
16
Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients by Gijs W.E. Santen, Emmelien Aten, Anneke T. Vulto‐van Silfhout, Caroline Pottinger, Bregje W.M. van Bon, Ivonne J.H.M. van Minderhout, Ronelle Snowdowne, Christian A.C. van der Lans, Merel W. Boogaard, Margot M. Linssen, Linda Vijfhuizen, Michiel J.R. van der Wielen, M.J. Ellen Vollebregt, Martijn H. Breuning, Marjolein Kriek, Arie van Haeringen, Johan T. den Dunnen, Alexander Hoischen, Jill Clayton‐Smith, Bert B.A. de Vries, Raoul C. M. Hennekam, Martine J. van Belzen, Mariam Almureikhi, Anwar Baban, Mafalda Barbosa, Tawfeg Ben‐Omran, Katherine Berry, Stefania Bigoni, Odile Boute, Louise Brueton, Ineke van der Burgt, Natalie Canham, Kate Chandler, Krystyńa Chrzańowska, Amanda Collins, Teresa De Toni, John Dean, Nicolette S. den Hollander, Leigh Anne Flore, Alan Fryer, Alice Gardham, John M. Graham, Victoria Harrison, Denise Horn, Marjolijn C.J. Jongmans, Dragana Josifova, Sarina G. Kant, Seema Kapoor, Helen Kingston, Usha Kini, Tjitske Kleefstra, Małgorzata Krajewska‐Walasek, Nancy Kramer, Saskia M. Maas, Patrı́cia Maciel, Grazia M.S. Mancini, Isabelle Maystadt, Shane McKee, Jeff M. Milunsky, Sheela Nampoothiri, Ruth Newbury‐Ecob, Sarah M. Nikkel, Michael Parker, Luis A. Pérez‐Jurado, Stephen P. Robertson, Caroline Rooryck, Debbie Shears, Margherita Silengo, Ankur Singh, Robert Śmigiel, Gabriela Soares, Miranda Splitt, Helen Stewart, Elizabeth Sweeney, May Tassabehji, Beyhan Tüysüz, Albertien M. van Eerde, Catherine Vincent‐Delorme, Louise C. Wilson, Gözde Yeşil
Published 2013Artigo -
17
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome by Pleuntje J. van der Sluijs, Sandra Jansen, Samantha A. Schrier Vergano, Miho Adachi-Fukuda, Yasemin Alanay, Adila Al‐Kindy, Anwar Baban, Allan Bayat, Stefanie Beck‐Wödl, Katherine Berry, Emilia K. Bijlsma, Levinus A. Bok, Alwin F.J. Brouwer, Ineke van der Burgt, Philippe M. Campeau, Natalie Canham, Krystyńa Chrzańowska, Yoyo W. Y. Chu, Brain H.Y. Chung, Karin Dahan, Marjan De Rademaeker, Anne Destrèe, Tracy Dudding‐Byth, Rachel K. Earl, Nursel Elçioğlu, Ellen Roy Elias, Christina Fagerberg, Alice Gardham, Blanca Gener, Erica H. Gerkes, Ute Grasshoff, Arie van Haeringen, Karin R. Heitink, Johanna C. Herkert, Nicolette S. den Hollander, Denise Horn, David Hunt, Sarina G. Kant, Mitsuhiro Kato, Hülya Kayserili, Rogier Kersseboom, Esra KAYA KILIÇ, Małgorzata Krajewska‐Walasek, Kylin Lammers, Lone Walentin Laulund, Damien Lederer, Melissa Lees, Vanesa López‐González, Saskia M. Maas, Grazia M.S. Mancini, Carlo Marcelis, Francisco Martı́nez, Isabelle Maystadt, Marianne McGuire, Shane McKee, Sarju Mehta, Kay Metcalfe, Jeff M. Milunsky, Seiji Mizuno, John B. Moeschler, Christian Netzer, Charlotte W. Ockeloen, Barbara Oehl‐Jaschkowitz, Nobuhiko Okamoto, Sharon N.M. Olminkhof, Carmen Orellana, Laurent Pasquier, Caroline Pottinger, Vera Riehmer, Stephen P. Robertson, Maian Roifman, Caroline Rooryck, Fabienne G. Ropers, Mónica Roselló, Claudia Ruivenkamp, Mahmut Şamil Sağıroğlu, Suzanne C.E.H. Sallevelt, A. Sanchís Calvo, Pelin Özlem Şimşek‐Kiper, Gabriela Soares, Lucia Solaeche, Fatma Müjgan Sönmez, Miranda Splitt, Duco Steenbeek, Alexander P.A. Stegmann, Constance T. R. M. Stumpel, Saori Tanabe, Eyyüp Üçtepe, Gülen Eda Ütine, Hermine E. Veenstra‐Knol, Sunita Venkateswaran, Catheline Vilain, Catherine Vincent‐Delorme, Anneke T. Vulto‐van Silfhout, Patricia G. Wheeler, Golder N. Wilson, Louise C. Wilson, Bernd Wollnik, Tomoki Kosho, Dagmar Wieczorek
Published 2018Artigo
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