Bibliotecas PUC-SP - Busca Integrada

First Prenatal Case of Genotypically and Phenotypically Overlapping Double Molecular Diagnosis of Van den Ende–Gupta and 22q11.2 Deletion Syndromes

द्वारा Caroline Racine, Aurore Garde, Olivia Martz, Hana Safraou, Vinciane Eluard, Thierry Rousseau, Nathalie Marle, Fara T. Harizay, Laurent Martin, Julien Maraval, Ange‐Line Bruel, Christophe Philippe, Christel Thauvin‐Robinet, Laurence Faivre
में प्रकाशित Molecular Genetics & Genomic Medicine (2025-04-01)

Atypical phenotype of a patient with Bardet–Biedl syndrome type 4

द्वारा Natacha Sloboda, Laetitia Lambert, Viorica Ciorna, Ange‐Line Bruel, Frédéric Tran Mau‐Them, Vladimir Gomola, Jean‐Louis Lemelle, Olivier Klein, Marie‐Christine Camoin‐Schweitzer, Marie Magnavacca, Carole Legagneur, Marie‐Laure Ezsto, Céline Bonnet, Christophe Philippe, Bruno Leheup
में प्रकाशित Molecular Genetics & Genomic Medicine (2022-05-01)

MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone.

द्वारा Chunmei Li, Victor L Jensen, Kwangjin Park, Julie Kennedy, Francesc R Garcia-Gonzalo, Marta Romani, Roberta De Mori, Ange-Line Bruel, Dominique Gaillard, Bérénice Doray, Estelle Lopez, Jean-Baptiste Rivière, Laurence Faivre, Christel Thauvin-Robinet, Jeremy F Reiter, Oliver E Blacque, Enza Maria Valente, Michel R Leroux
में प्रकाशित PLoS Biology (2016-03-01)

Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly

द्वारा Amama Ghaffar, Tehmeena Akhter, Petter Strømme, Doriana Misceo, Amjad Khan, Eirik Frengen, Muhammad Umair, Bertrand Isidor, Benjamin Cogné, Asma A. Khan, Ange-Line Bruel, Arthur Sorlin, Paul Kuentz, Christine Chiaverini, A. Micheil Innes, Michael Zech, Marek Baláž, Petra Havrankova, Robert Jech, Zubair M. Ahmed, Sheikh Riazuddin, Saima Riazuddin
में प्रकाशित Communications Biology (2024-07-01)

Interest of exome sequencing trio‐like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases

द्वारा Frederic Tran Mau‐Them, Yannis Duffourd, Antonio Vitobello, Ange‐Line Bruel, Anne‐Sophie Denommé‐Pichon, Sophie Nambot, Julian Delanne, Sebastien Moutton, Arthur Sorlin, Orphanomix Physician’s Group, Victor Couturier, Valentin Bourgeois, Martin Chevarin, Charlotte Poe, Anne‐Laure Mosca‐Boidron, Patrick Callier, Hana Safraou, Laurence Faivre, Christophe Philippe, Christel Thauvin‐Robinet
में प्रकाशित Molecular Genetics & Genomic Medicine (2021-12-01)

Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis

द्वारा Frédéric Tran Mau-Them, Frédéric Tran Mau-Them, Alexis Overs, Ange-Line Bruel, Ange-Line Bruel, Romain Duquet, Mylene Thareau, Anne-Sophie Denommé-Pichon, Anne-Sophie Denommé-Pichon, Antonio Vitobello, Antonio Vitobello, Arthur Sorlin, Arthur Sorlin, Hana Safraou, Hana Safraou, Sophie Nambot, Julian Delanne, Sebastien Moutton, Caroline Racine, Camille Engel, Melchior De Giraud d’Agay, Daphne Lehalle, Alice Goldenberg, Alice Goldenberg, Marjolaine Willems, Christine Coubes, David Genevieve, Alain Verloes, Alain Verloes, Yline Capri, Laurence Perrin, Marie-Line Jacquemont, Laetitia Lambert, Elodie Lacaze, Julien Thevenon, Nadine Hana, Nadine Hana, Julien Van-Gils, Charlotte Dubucs, Varoona Bizaoui, Marion Gerard-Blanluet, James Lespinasse, Sandra Mercier, Anne-Marie Guerrot, Anne-Marie Guerrot, Isabelle Maystadt, Emilie Tisserant, Laurence Faivre, Laurence Faivre, Christophe Philippe, Christophe Philippe, Yannis Duffourd, Yannis Duffourd, Christel Thauvin-Robinet, Christel Thauvin-Robinet, Christel Thauvin-Robinet
में प्रकाशित Frontiers in Genetics (2023-04-01)

OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additio...

द्वारा Estelle Colin, Estelle Colin, Yannis Duffourd, Yannis Duffourd, Emilie Tisserant, Raissa Relator, Ange-Line Bruel, Ange-Line Bruel, Frédéric Tran Mau-Them, Frédéric Tran Mau-Them, Anne-Sophie Denommé-Pichon, Anne-Sophie Denommé-Pichon, Hana Safraou, Hana Safraou, Julian Delanne, Julian Delanne, Nolwenn Jean-Marçais, Boris Keren, Bertrand Isidor, Marie Vincent, Cyril Mignot, Cyril Mignot, Delphine Heron, Alexandra Afenjar, Solveig Heide, Anne Faudet, Perrine Charles, Sylvie Odent, Sylvie Odent, Yvan Herenger, Arthur Sorlin, Sébastien Moutton, Jennifer Kerkhof, Haley McConkey, Martin Chevarin, Martin Chevarin, Charlotte Poë, Charlotte Poë, Victor Couturier, Victor Couturier, Valentin Bourgeois, Valentin Bourgeois, Patrick Callier, Anne Boland, Robert Olaso, Robert Olaso, Christophe Philippe, Christophe Philippe, Bekim Sadikovic, Bekim Sadikovic, Christel Thauvin-Robinet, Christel Thauvin-Robinet, Christel Thauvin-Robinet, Laurence Faivre, Laurence Faivre, Jean-François Deleuze, Jean-François Deleuze, Antonio Vitobello, Antonio Vitobello
में प्रकाशित Frontiers in Cell and Developmental Biology (2022-10-01)

DNA Methylation Signature for <i>JARID2</i>-Neurodevelopmental Syndrome

द्वारा Eline A. Verberne, Liselot van der Laan, Sadegheh Haghshenas, Kathleen Rooney, Michael A. Levy, Mariëlle Alders, Saskia M. Maas, Sandra Jansen, Agne Lieden, Britt-Marie Anderlid, Louise Rafael-Croes, Philippe M. Campeau, Ayeshah Chaudhry, David A. Koolen, Rolph Pfundt, Anna C. E. Hurst, Frederic Tran-Mau-Them, Ange-Line Bruel, Laetitia Lambert, Bertrand Isidor, Marcel M. A. M. Mannens, Bekim Sadikovic, Peter Henneman, Mieke M. van Haelst
में प्रकाशित International Journal of Molecular Sciences (2022-07-01)

Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism

द्वारा Hyung-Goo Kim, Jill A. Rosenfeld, Daryl A. Scott, Gerard Bénédicte, Jonathan D. Labonne, Jason Brown, Marianne McGuire, Sonal Mahida, Sakkubai Naidu, Jacqueline Gutierrez, Gaetan Lesca, Vincent des Portes, Ange-Line Bruel, Arthur Sorlin, Fan Xia, Yline Capri, Eric Muller, Dianalee McKnight, Erin Torti, Franz Rüschendorf, Oliver Hummel, Zeyaul Islam, Prasanna R. Kolatkar, Lawrence C. Layman, Duchwan Ryu, Il-Keun Kong, Suneeta Madan-Khetarpal, Cheol-Hee Kim
में प्रकाशित Molecular Autism (2019-10-01)

Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders

द्वारा Estelle Colin, Estelle Colin, Yannis Duffourd, Martin Chevarin, Martin Chevarin, Emilie Tisserant, Simon Verdez, Julien Paccaud, Ange-Line Bruel, Ange-Line Bruel, Frédéric Tran Mau-Them, Frédéric Tran Mau-Them, Anne-Sophie Denommé-Pichon, Anne-Sophie Denommé-Pichon, Julien Thevenon, Hana Safraou, Hana Safraou, Thomas Besnard, Thomas Besnard, Alice Goldenberg, Alice Goldenberg, Benjamin Cogné, Benjamin Cogné, Bertrand Isidor, Julian Delanne, Julian Delanne, Arthur Sorlin, Arthur Sorlin, Sébastien Moutton, Sébastien Moutton, Mélanie Fradin, Christèle Dubourg, Christèle Dubourg, Magali Gorce, Dominique Bonneau, Salima El Chehadeh, François-Guillaume Debray, Martine Doco-Fenzy, Martine Doco-Fenzy, Kevin Uguen, Kevin Uguen, Nicolas Chatron, Bernard Aral, Nathalie Marle, Paul Kuentz, Paul Kuentz, Anne Boland, Robert Olaso, Robert Olaso, Jean-François Deleuze, Jean-François Deleuze, Damien Sanlaville, Patrick Callier, Patrick Callier, Christophe Philippe, Christophe Philippe, Christel Thauvin-Robinet, Christel Thauvin-Robinet, Christel Thauvin-Robinet, Laurence Faivre, Laurence Faivre, Antonio Vitobello, Antonio Vitobello
में प्रकाशित Frontiers in Cell and Developmental Biology (2023-02-01)

Exome sequencing in severe non-syndromic specific learning and language disorders in a French cohort

द्वारा Eléonore Viora-Dupont, Julian Delanne, Aurore Garde, Sophie Nambot, Estelle Colin, Marie Bournez, Clémence Fauconnier-Fatus, Caroline Racine, Clément Simao De Souza, Céline Bernard, Agnès Maurer, Aurélie Espitalier, Christine Binquet, Marion Bouctot, Marie-Laure Humbert, Anne-Sophie Briffaut, Véronique Darmency, Patricia Plumet, Audrey Cotinaud-Ricou, Noémie Relin, Patrick Callier, Anne-Laure Mosca-Boidron, Nathalie Marle, Frederic Tran Mau-Them, Anne-Sophie Denommé-Pichon, Hana Safraou, Antonio Vitobello, Christophe Philippe, Yannis Duffourd, Ange-Line Bruel, Christel Thauvin-Robinet, Laurence Faivre
में प्रकाशित Molecular Autism (2025-10-01)

Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variantsResearch in context

द्वारा Nazanin Azarinejad Mohammadi, Philip Kiær Ahring, Vivian Wan Yu Liao, Han Chow Chua, Sebastián Ortiz de la Rosa, Katrine Marie Johannesen, Yael Michaeli-Yossef, Aline Vincent-Devulder, Catherine Meridda, Ange-Line Bruel, Alessandra Rossi, Chirag Patel, Joerg Klepper, Paolo Bonanni, Sara Minghetti, Marina Trivisano, Nicola Specchio, David Amor, Stéphane Auvin, Sarah Baer, Pierre Meyer, Mathieu Milh, Vincenzo Salpietro, Reza Maroofian, Johannes R. Lemke, Sarah Weckhuysen, Palle Christophersen, Guido Rubboli, Mary Chebib, Anders A. Jensen, Nathan L. Absalom, Rikke Steensbjerre Møller
में प्रकाशित EBioMedicine (2024-08-01)

The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders

द्वारा Julian Delanne, Ange-Line Bruel, Frédéric Huet, Sébastien Moutton, Sophie Nambot, Margot Grisval, Nada Houcinat, Paul Kuentz, Arthur Sorlin, Patrick Callier, Nolwenn Jean-Marcais, Anne-Laure Mosca-Boidron, Frédéric Tran Mau-Them, Anne-Sophie Denommé-Pichon, Antonio Vitobello, Daphné Lehalle, Salima El Chehadeh, Christine Francannet, Marine Lebrun, Laetitia Lambert, Marie-Line Jacquemont, Marion Gerard-Blanluet, Jean-Luc Alessandri, Marjolaine Willems, Julien Thevenon, Mondher Chouchane, Véronique Darmency, Clémence Fatus-Fauconnier, Sébastien Gay, Marie Bournez, Alice Masurel, Vanessa Leguy, Yannis Duffourd, Christophe Philippe, François Feillet, Laurence Faivre, Christel Thauvin-Robinet
में प्रकाशित Molecular Genetics and Metabolism Reports (2021-12-01)

The Economic, Medical and Psychosocial Consequences of Whole Genome Sequencing for the Genetic Diagnosis of Patients With Intellectual Disability: The DEFIDIAG Study Protocol

द्वारा Catherine Lejeune, Catherine Lejeune, Charley Robert-Viard, Charley Robert-Viard, Nicolas Meunier-Beillard, Nicolas Meunier-Beillard, Myriam Alice Borel, Léna Gourvès, Stéphanie Staraci, Anne-Laure Soilly, Francis Guillemin, Valerie Seror, Hamza Achit, Marion Bouctot, Marie-Laure Asensio, Anne-Sophie Briffaut, Christelle Delmas, Ange-Line Bruel, Alexia Benoit, Alban Simon, Bénédicte Gerard, Hamza Hadj Abdallah, Hamza Hadj Abdallah, Stanislas Lyonnet, Stanislas Lyonnet, Laurence Faivre, Christel Thauvin-Robinet, Sylvie Odent, Delphine Heron, Damien Sanlaville, Thierry Frebourg, Thierry Frebourg, Jean Muller, Jean Muller, Jean Muller, Yannis Duffourd, Anne Boland, Jean-François Deleuze, Hélène Espérou, Christine Binquet, Hélène Dollfus
में प्रकाशित Frontiers in Genetics (2022-04-01)

Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool

द्वारा Frédéric Tran Mau-Them, Frédéric Tran Mau-Them, Julian Delanne, Anne-Sophie Denommé-Pichon, Anne-Sophie Denommé-Pichon, Hana Safraou, Hana Safraou, Ange-Line Bruel, Ange-Line Bruel, Antonio Vitobello, Antonio Vitobello, Aurore Garde, Sophie Nambot, Nicolas Bourgon, Caroline Racine, Arthur Sorlin, 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, Godelieve Morel, Mélanie Fradin, Alinoé Lavillaureix, Chloé Quelin, Laurent Pasquier, Sylvie Odent, Gabriella Vera, Alice Goldenberg, Anne-Marie Guerrot, Anne-Claire Brehin, Audrey Putoux, Jocelyne Attia, Carine Abel, Patricia Blanchet, Constance F. Wells, Caroline Deiller, Mathilde Nizon, Mathilde Nizon, Sandra Mercier, Sandra Mercier, Marie Vincent, Marie Vincent, Bertrand Isidor, Bertrand Isidor, Jeanne Amiel, Jeanne Amiel, Rodolphe Dard, Manon Godin, Nicolas Gruchy, Médéric Jeanne, Médéric Jeanne, Elise Schaeffer, Pierre-Yves Maillard, Frédérique Payet, Marie-Line Jacquemont, Christine Francannet, Sabine Sigaudy, Marine Bergot, Marine Bergot, Emilie Tisserant, Marie-Laure Ascencio, Christine Binquet, Yannis Duffourd, Yannis Duffourd, Christophe Philippe, Christophe Philippe, Laurence Faivre, Laurence Faivre, Christel Thauvin-Robinet, Christel Thauvin-Robinet, Christel Thauvin-Robinet
में प्रकाशित Frontiers in Genetics (2023-03-01)

The different clinical facets of SYN1-related neurodevelopmental disorders

द्वारा Ilaria Parenti, Elsa Leitão, Alma Kuechler, Laurent Villard, Laurent Villard, Cyril Goizet, Cyril Goizet, Cyril Goizet, Cécile Courdier, Cécile Courdier, Cécile Courdier, Allan Bayat, Allan Bayat, Allan Bayat, Alessandra Rossi, Alessandra Rossi, Sophie Julia, Ange-Line Bruel, Ange-Line Bruel, Frédéric Tran Mau-Them, Frédéric Tran Mau-Them, Sophie Nambot, Daphné Lehalle, Daphné Lehalle, Marjolaine Willems, Marjolaine Willems, James Lespinasse, Jamal Ghoumid, Jamal Ghoumid, Roseline Caumes, Roseline Caumes, Thomas Smol, Thomas Smol, Salima El Chehadeh, Elise Schaefer, Marie-Thérèse Abi-Warde, Boris Keren, Alexandra Afenjar, Anne-Claude Tabet, Jonathan Levy, Anna Maruani, Ángel Aledo-Serrano, Waltraud Garming, Clara Milleret-Pignot, Anna Chassevent, Marije Koopmans, Nienke E. Verbeek, Richard Person, Rebecca Belles, Gary Bellus, Bonnie A. Salbert, Frank J. Kaiser, Frank J. Kaiser, Laure Mazzola, Laure Mazzola, Philippe Convers, Philippe Convers, Laurine Perrin, Amélie Piton, Amélie Piton, Amélie Piton, Amélie Piton, Gert Wiegand, Gert Wiegand, Andrea Accogli, Andrea Accogli, Francesco Brancati, Francesco Brancati, Fabio Benfenati, Fabio Benfenati, Nicolas Chatron, Nicolas Chatron, David Lewis-Smith, David Lewis-Smith, Rhys H. Thomas, Rhys H. Thomas, Federico Zara, Federico Zara, Pasquale Striano, Pasquale Striano, Gaetan Lesca, Gaetan Lesca, Christel Depienne
में प्रकाशित Frontiers in Cell and Developmental Biology (2022-12-01)

EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum

द्वारा Ulrike Hüffmeier, Cornelia Kraus, Miriam S. Reuter, Steffen Uebe, Mary-Alice Abbott, Syed A. Ahmed, Kristyn L. Rawson, Eileen Barr, Hong Li, Ange-Line Bruel, Laurence Faivre, Frédéric Tran Mau-Them, Christina Botti, Susan Brooks, Kaitlyn Burns, D. Isum Ward, Marina Dutra-Clarke, Julian A. Martinez-Agosto, Hane Lee, Stanley F. Nelson, UCLA California Center for Rare Disease, Pia Zacher, Rami Abou Jamra, Chiara Klöckner, Julie McGaughran, Jürgen Kohlhase, Sarah Schuhmann, Ellen Moran, John Pappas, Annick Raas-Rothschild, Maria J. Guillen Sacoto, Lindsay B. Henderson, Timothy Blake Palculict, Sureni V. Mullegama, Houda Zghal Elloumi, Adi Reich, Samantha A. Schrier Vergano, Erica Wahl, André Reis, Christiane Zweier
में प्रकाशित Orphanet Journal of Rare Diseases (2021-03-01)

PERIGENOMED-CLINICS 1—the first study on feasibility, acceptability and psychosocial impact of PERIGENOMED: a pilot project aimed at providing initial concrete evidence on the rele...

द्वारा Laurence Faivre, Sylvie Odent, Laurent Pasquier, David Cheillan, Sandra Mercier, Mathilde Nizon, Juliette Piard, Christine Binquet, Martin Chevarin, Yannis Duffourd, Paul Kuentz, Frédéric Huet, Ange-Line Bruel, Christel Thauvin-Robinet, Alban Ziegler, Estelle Colin, Paul Rollier, Nicolas Mottet, Stéphane Bezieau, Richard Redon, Jean-Baptiste Arnoux, Brigitte Chabrol, Emilie Tisserant, Anne-Sophie Jannot, Frédéric Tran-Mau-Them, Amir Hassine, Caroline Racine, Hana Safraou, Maud Carpentier, Camille Level, Emeline Davoine, Margot Lemaitre, Dominique Salvi, Emmanuelle Lecommandeur, Amandine Charreton, Marie de Tayrac, Julien Barc, Sebatien Schmitt, Coline Cormier, Marlène Malbos, Véronique Tardy, Celine Bris, Léa Gaudillat, Virginie Loizeau, Camille Lenelle, Emmanuel Simon, Catherine Renaud, Catherine Lejeune, Marie-Laure Asensio
में प्रकाशित BMJ Open (2025-10-01)

GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment

द्वारा Andrea Zanetti, Gwendal Dujardin, Lucas Fares-Taie, Jeanne Amiel, Jérôme E. Roger, Isabelle Audo, Matthieu P. Robert, Pierre David, Vincent Jung, Nicolas Goudin, Ida Chiara Guerrera, Stéphanie Moriceau, Danielle Amana, Nurit Assia Batzir, Anat Bachar-Zipori, Lina Basel Salmon, Nathalie Boddaert, Sylvain Briault, Ange-Line Bruel, Christine Costet-Fighiera, Luisa Coutinho Santos, Cyril Gitiaux, Karolina Kaminska, Paul Kuentz, Naama Orenstein, Nicole Philip-Sarles, Morgane Plutino, Mathieu Quinodoz, Cristina Santos, Sabine Sigaudy, Mariana Soeiro e Sá, Efrat Sofrin, Ana Berta Sousa, Rui Sousa-Luis, Christel Thauvin-Robinet, Erwin L. van Dijk, Khaoula Zaafrane-Khachnaoui, Dinah Zur, Josseline Kaplan, Carlo Rivolta, Jean-Michel Rozet, Isabelle Perrault
में प्रकाशित Nature Communications (2024-11-01)

P159: Variants in cohesin release factors WAPL, PDS5A, and PDS5B define a new class of cohesinopathies*

द्वारा Philip Boone, Kamli Faour, Kiana Mohajeri, John Lemanski, Bimal Jana, Jack Fu, Jennifer Kerkhof, Haley McConkey, Ryan Collins, Diane Lucente, Celine de Esch, Mariana Moysés-Oliveira, Alexander Nuttle, Aloysius Domingo, Serkan Erdin, Maris Hanley, Amy Watt, Eric Surette, Gloria Lima, Laura Smith, Monica Salani, Rachita Yadav, Ricardo Harripaul, Kathryn O’Keefe, Nicholas Burt, Matthew Larson, Riya Bhavsar, Benjamin Currall, Susan Sell, Roger Ladda, LaDonna Immken, Catherine Buchanan, Bo Yuan, Sally Lynch, Christian Gilissen, Rolph Pfundt, Charlotte Ockeloen, Tjitske Kleefstra, Els Vanhoutte, Margje Sinnema, Sander Stegmann, Servi Stevens, Maria Iascone, Silvia Maitz, Benjamin Cogne, Cedric Le Caignec, Marie Vincent, Mathilde Nizon, Alison Male, Pankaj Agrawal, Michelle Thompson, Pernille Torring, Charlotte Brasch-Andersen, Laurence Faivre, Ange-Line Bruel, Bertrand Isidor, Christophe Philippe, Manuela Morleo, Monica Wojcik, Casie Genetti, Siddharth Srivastava, Sonia Ballal, Sophia Schließke, Rami Abou Jamra, Andree Delahaye, Lydia von Wintzingerode, Viktoria Bothe, Marine Houlier, Timothy Stout, Gaber Bergant, Borut Peterlin, Oana Moldovan, Núria Martínez-Gil, Emanuela Argilli, Elliott Sherr, Tamar Harel, Hallel Rosenberg-Fogler, Jill Rosenfeld, Ingrid Wentzensen, Dominik Westphal, Korbinian Riedhammer, Laura Orec, James Gusella, Bekim Sadikovic, Derek Tai, Michael Talkowski
में प्रकाशित Genetics in Medicine Open (2023-01-01)