Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study
Forde, Claire, Burkitt-Wright, Emma, Turnpenny, Peter D, Haan, Eric, Ealing, John, Mansour, Sahar, Holder, Muriel, Lahiri, Nayana, Dixit, Abhijit, Procter, Annie, Pacot, Laurence, Vidaud, Dominique, Capri, Yline, Gerard, Marion, Dollfus, Hélène, Schaefer, Elise, Quelin, Chloé, Sigaudy, Sabine, Busa, Tiffany, Vera, Gabriella, Damaj, Lena, Messiaen, Ludwine, Stevenson, David A, Davies, Peter, Palmer-Smith, Sheila, Callaway, Alison, Wolkenstein, Pierre, Pasmant, Eric, Upadhyaya, Meena
Published in European journal of human genetics : EJHG (01.03.2022)
Published in European journal of human genetics : EJHG (01.03.2022)
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Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females
Depienne, Christel, Bouteiller, Delphine, Keren, Boris, Cheuret, Emmanuel, Poirier, Karine, Trouillard, Oriane, Benyahia, Baya, Quelin, Chloé, Carpentier, Wassila, Julia, Sophie, Afenjar, Alexandra, Gautier, Agnès, Rivier, François, Meyer, Sophie, Berquin, Patrick, Hélias, Marie, Py, Isabelle, Rivera, Serge, Bahi-Buisson, Nadia, Gourfinkel-An, Isabelle, Cazeneuve, Cécile, Ruberg, Merle, Brice, Alexis, Nabbout, Rima, Leguern, Eric
Published in PLoS genetics (01.02.2009)
Published in PLoS genetics (01.02.2009)
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Clinical delineation of SETBP1 haploinsufficiency disorder
Jansen, Nadieh A, Braden, Ruth O, Srivastava, Siddharth, Otness, Erin F, Lesca, Gaetan, Rossi, Massimiliano, Nizon, Mathilde, Bernier, Raphael A, Quelin, Chloé, van Haeringen, Arie, Kleefstra, Tjitske, Wong, Maggie M K, Whalen, Sandra, Fisher, Simon E, Morgan, Angela T, van Bon, Bregje W
Published in European journal of human genetics : EJHG (01.08.2021)
Published in European journal of human genetics : EJHG (01.08.2021)
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Fetal Description of the Pancreatic Agenesis and Holoprosencephaly Syndrome Associated to a Specific CNOT1 Variant
Cospain, Auriane, Faoucher, Marie, Cauchois, Aurélie, Carre, Wilfrid, Quelin, Chloé, Dubourg, Christèle
Published in Pediatric and developmental pathology (01.09.2022)
Published in Pediatric and developmental pathology (01.09.2022)
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Multiple congenital anomalies in two fetuses with glutathione‐synthetase deficit (GSS)
Jury, Jeanne, Benoist, Jean‐François, Joubert, Madeleine, Quelin, Chloé, Besnard, Thomas, Conrad, Solène, Le Vaillant, Claudine, Bézieau, Stéphane, Isidor, Bertrand, Attié‐Bitach, Tania, Cogné, Benjamin, Vincent, Marie
Published in Clinical genetics (01.12.2024)
Published in Clinical genetics (01.12.2024)
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Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome
Billon, Clarisse, Adham, Salma, Hernandez Poblete, Natalia, Legrand, Anne, Frank, Michael, Chiche, Laurent, Zuily, Stephane, Benistan, Karelle, Savale, Laurent, Zaafrane-Khachnaoui, Khaoula, Brehin, Anne-Claire, Bal, Laurence, Busa, Tiffany, Fradin, Mélanie, Quelin, Chloé, Chesneau, Bertrand, Wahl, Denis, Fergelot, Patricia, Goizet, Cyril, Mirault, Tristan, Jeunemaitre, Xavier, Albuisson, Juliette
Published in Orphanet journal of rare diseases (04.12.2021)
Published in Orphanet journal of rare diseases (04.12.2021)
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IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
Mignot, Cyril, McMahon, Aoife C., Bar, Claire, Campeau, Philippe M, Davidson, Claire, Buratti, Julien, Nava, Caroline, Jacquemont, Marie-Line, Tallot, Marilyn, Milh, Mathieu, Edery, Patrick, Marzin, Pauline, Barcia, Giulia, Barnerias, Christine, Besmond, Claude, Bienvenu, Thierry, Bruel, Ange-Line, Brunga, Ledia, Ceulemans, Berten, Coubes, Christine, Cristancho, Ana G., Cunningham, Fiona, Dehouck, Marie-Bertille, Donner, Elizabeth J., Duban-Bedu, Bénédicte, Dubourg, Christèle, Gardella, Elena, Gauthier, Julie, Geneviève, David, Gobin-Limballe, Stéphanie, Goldberg, Ethan M., Hagebeuk, Eveline, Hamdan, Fadi F., Hančárová, Miroslava, Hubert, Laurence, Ioos, Christine, Ichikawa, Shoji, Janssens, Sandra, Journel, Hubert, Kaminska, Anna, Keren, Boris, Koopmans, Marije, Lacoste, Caroline, Laššuthová, Petra, Lederer, Damien, Lehalle, Daphné, Marjanovic, Dragan, Métreau, Julia, Michaud, Jacques L., Miller, Kathryn, Minassian, Berge A., Morales, Joannella, Moutard, Marie-Laure, Munnich, Arnold, Ortiz-Gonzalez, Xilma R., Pinard, Jean-Marc, Prchalová, Darina, Putoux, Audrey, Quelin, Chloé, Rosen, Alyssa R., Roume, Joelle, Rossignol, Elsa, Simon, Marleen E. H., Smol, Thomas, Shur, Natasha, Shelihan, Ivan, Štěrbová, Katalin, Vyhnálková, Emílie, Vilain, Catheline, Soblet, Julie, Smits, Guillaume, Yang, Samuel P., van der Smagt, Jasper J., van Hasselt, Peter M., van Kempen, Marjan, Weckhuysen, Sarah, Helbig, Ingo, Villard, Laurent, Héron, Delphine, Koeleman, Bobby, Møller, Rikke S., Lesca, Gaetan, Helbig, Katherine L., Nabbout, Rima, Verbeek, Nienke E., Depienne, Christel
Published in Genetics in medicine (01.04.2019)
Published in Genetics in medicine (01.04.2019)
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Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder
Maia, Nuno, Potelle, Sven, Yildirim, Hamide, Duvet, Sandrine, Akula, Shyam K., Schulz, Celine, Wiame, Elsa, Gheldof, Alexander, O’Kane, Katherine, Lai, Abbe, Sermon, Karen, Proisy, Maïa, Loget, Philippe, Attié-Bitach, Tania, Quelin, Chloé, Fortuna, Ana Maria, Soares, Ana Rita, de Brouwer, Arjan P.M., Van Schaftingen, Emile, Nassogne, Marie-Cécile, Walsh, Christopher A., Stouffs, Katrien, Jorge, Paula, Jansen, Anna C., Foulquier, François
Published in American journal of human genetics (03.02.2022)
Published in American journal of human genetics (03.02.2022)
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De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy
Laquerriere, Annie, Gonzales, Marie, Saillour, Yoann, Cavallin, Mara, Joyē, Nicole, Quēlin, Chloé, Bidat, Laurent, Dommergues, Marc, Plessis, Ghislaine, Encha-Razavi, Ferechte, Chelly, Jamel, Bahi-Buisson, Nadia, Poirier, Karine
Published in European journal of medical genetics (01.04.2016)
Published in European journal of medical genetics (01.04.2016)
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Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome)
Courdier, Cécile, Boudjarane, John, Malan, Valérie, Muti, Christine, Sperelakis‐Beedham, Brian, Odent, Sylvie, Jaillard, Sylvie, Quelin, Chloé, Le Caignec, Cédric, Patat, Olivier, Dubucs, Charlotte, Julia, Sophie, Schluth‐Bolard, Caroline, Goumy, Carole, Redon, Sylvia, Gaillard, Jean‐Baptiste, Huynh, Minh Tuan, Dupont, Céline, Tabet, Anne‐Claude, Cogan, Guillaume, Vialard, François, Dard, Rodolphe, Jedraszak, Guillaume, Jobic, Florence, Lefebvre, Mathilde, Quenum, Geneviève, Inai, Saori, Rama, Mélanie, Sauvestre, Fanny, Coatleven, Frédéric, Thomas, Julie, Rooryck, Caroline
Published in Prenatal diagnosis (01.06.2023)
Published in Prenatal diagnosis (01.06.2023)
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Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia
Michot, Caroline, Le Goff, Carine, Blair, Edward, Blanchet, Patricia, Capri, Yline, Gilbert-Dussardier, Brigitte, Goldenberg, Alice, Henderson, Alex, Isidor, Bertrand, Kayserili, Hulya, Kinning, Esther, Le Merrer, Martine, Lyonnet, Stanislas, Odent, Sylvie, Simsek-Kiper, Pelin Ozlem, Quelin, Chloé, Savarirayan, Ravi, Simon, Marleen, Splitt, Miranda, Verhagen, Judith M A, Verloes, Alain, Munnich, Arnold, Baujat, Geneviève, Cormier-Daire, Valérie
Published in European journal of human genetics : EJHG (01.11.2018)
Published in European journal of human genetics : EJHG (01.11.2018)
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Severe Phenotype in Patients with Large Deletions of NF1
Pacot, Laurence, Vidaud, Dominique, Sabbagh, Audrey, Laurendeau, Ingrid, Briand-Suleau, Audrey, Coustier, Audrey, Maillard, Théodora, Barbance, Cécile, Morice-Picard, Fanny, Sigaudy, Sabine, Glazunova, Olga O, Damaj, Lena, Layet, Valérie, Quelin, Chloé, Gilbert-Dussardier, Brigitte, Audic, Frédérique, Dollfus, Hélène, Guerrot, Anne-Marie, Lespinasse, James, Julia, Sophie, Vantyghem, Marie-Christine, Drouard, Magali, Lackmy, Marilyn, Leheup, Bruno, Alembik, Yves, Lemaire, Alexia, Nitschké, Patrick, Petit, Florence, Dieux Coeslier, Anne, Mutez, Eugénie, Taieb, Alain, Fradin, Mélanie, Capri, Yline, Nasser, Hala, Ruaud, Lyse, Dauriat, Benjamin, Bourthoumieu, Sylvie, Geneviève, David, Audebert-Bellanger, Séverine, Nizon, Mathilde, Stoeva, Radka, Hickman, Geoffroy, Nicolas, Gaël, Mazereeuw-Hautier, Juliette, Jannic, Arnaud, Ferkal, Salah, Parfait, Béatrice, Vidaud, Michel, Members Of The Nf France Network, Wolkenstein, Pierre, Pasmant, Eric
Published in Cancers (13.06.2021)
Published in Cancers (13.06.2021)
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Fetal cerebral hemorrhage due to X‐linked GATA1 gene mutation
Bouchghoul, Hanane, Quelin, Chloé, Loget, Philippe, Encha‐Razavi, Féréchté, Senat, Marie‐Victoire, Maheut, Lorraine, Galimand, Julie, Collardeau‐Frachon, Sophie, Da Costa, Lydie, Martinovic, Jelena
Published in Prenatal diagnosis (01.09.2018)
Published in Prenatal diagnosis (01.09.2018)
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Osteopathia striata with cranial sclerosis: when a fetal malformation syndrome reveals maternal pathology
Quélin, Chloé, Loget, Philippe, D'Hervé, Dominique, Fradin, Mélanie, Milon, Joëlle, Ferry, Mathilde, Body-Bechou, Delphine, Tréguier, Catherine, Garcia Hoyos, Maria, Odent, Sylvie
Published in Prenatal diagnosis (01.02.2015)
Published in Prenatal diagnosis (01.02.2015)
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Craniosynostosis: A rare complication of pycnodysostosis
Osimani, Sara, Husson, Isabelle, Passemard, Sandrine, Elmaleh, Monique, Perrin, Laurence, Quelin, Chloé, Marey, Isabelle, Delalande, Olivier, Filocamo, Mirella, Verloes, Alain
Published in European journal of medical genetics (01.03.2010)
Published in European journal of medical genetics (01.03.2010)
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Optimizing care for MRKH patients: From malformation screening to uterus transplantation eligibility
Cospain, Auriane, Dion, Ludivine, Bidet, Maud, Nyangoh Timoh, Krystel, Quelin, Chloé, Carton, Isis, Lavillaureix, Alinoe, Morcel, Karine, Rollier, Paul, Pasquier, Laurent, Nouyou, Bénédicte, Odent, Sylvie, Guerrier, Daniel, Launay, Erika, Belaud Rotureau, Marc-Antoine, Fradin, Mélanie, Jaillard, Sylvie, Lavoué, Vincent
Published in Acta obstetricia et gynecologica Scandinavica (09.10.2024)
Published in Acta obstetricia et gynecologica Scandinavica (09.10.2024)
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Congenital mirror movements: mutational analysis of RAD51 and DCC in 26 cases
Méneret, Aurélie, Depienne, Christel, Riant, Florence, Trouillard, Oriane, Bouteiller, Delphine, Cincotta, Massimo, Bitoun, Pierre, Wickert, Julia, Lagroua, Isabelle, Westenberger, Ana, Borgheresi, Alessandra, Doummar, Diane, Romano, Marcello, Rossi, Simone, Defebvre, Luc, De Meirleir, Linda, Espay, Alberto J, Fiori, Simona, Klebe, Stephan, Quélin, Chloé, Rudnik-Schöneborn, Sabine, Plessis, Ghislaine, Dale, Russell C, Sklower Brooks, Susan, Dziezyc, Karolina, Pollak, Pierre, Golmard, Jean-Louis, Vidailhet, Marie, Brice, Alexis, Roze, Emmanuel
Published in Neurology (03.06.2014)
Published in Neurology (03.06.2014)
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PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect
Cuinat, Silvestre, Quélin, Chloé, Pasquier, Laurent, Loget, Philippe, Aussel, Dominique, Odent, Sylvie, Laquerrière, Annie, Proisy, Maia, Mazoyer, Sylvie, Delous, Marion, Edery, Patrick, Chatron, Nicolas, Lesca, Gaetan, Putoux, Audrey
Published in European journal of medical genetics (01.11.2023)
Published in European journal of medical genetics (01.11.2023)
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Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective
Cuinat, Silvestre, Quélin, Chloé, Effray, Claire, Dubourg, Christèle, Le Bouar, Gwenaelle, Cabaret-Dufour, Anne-Sophie, Loget, Philippe, Proisy, Maia, Sauvestre, Fanny, Sarreau, Mélie, Martin-Berenguer, Sophie, Beneteau, Claire, Naudion, Sophie, Michaud, Vincent, Arveiler, Benoit, Trimouille, Aurélien, Macé, Pierre, Sigaudy, Sabine, Glazunova, Olga, Torrents, Julia, Raymond, Laure, Saint-Frison, Marie-Hélène, Attié-Bitach, Tania, Lefebvre, Mathilde, Capri, Yline, Bourgon, Nicolas, Thauvin-Robinet, Christel, Tran Mau-Them, Frédéric, Bruel, Ange-Line, Vitobello, Antonio, Denommé-Pichon, Anne-Sophie, Faivre, Laurence, Brehin, Anne-Claire, Goldenberg, Alice, Patrier-Sallebert, Sophie, Perani, Alexandre, Dauriat, Benjamin, Bourthoumieu, Sylvie, Yardin, Catherine, Marquet, Valentine, Barnique, Marion, Fiorenza-Gasq, Maryse, Marey, Isabelle, Tournadre, Danielle, Doumit, Raïa, Nugues, Frédérique, Barakat, Tahsin Stefan, Bustos, Francisco, Jaillard, Sylvie, Launay, Erika, Pasquier, Laurent, Odent, Sylvie
Published in Journal of medical genetics (07.06.2024)
Published in Journal of medical genetics (07.06.2024)
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Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome
Legendre, Marine, Abadie, Véronique, Attié‐Bitach, Tania, Philip, Nicole, Busa, Tiffany, Bonneau, Dominique, Colin, Estelle, Dollfus, Hélène, Lacombe, Didier, Toutain, Annick, Blesson, Sophie, Julia, Sophie, Martin‐Coignard, Dominique, Geneviève, David, Leheup, Bruno, Odent, Sylvie, Jouk, Pierre‐Simon, Mercier, Sandra, Faivre, Laurence, Vincent‐Delorme, Catherine, Francannet, Christine, Naudion, Sophie, Mathieu‐Dramard, Michèle, Delrue, Marie‐Ange, Goldenberg, Alice, Héron, Delphine, Parent, Philippe, Touraine, Renaud, Layet, Valérie, Sanlaville, Damien, Quélin, Chloé, Moutton, Sébastien, Fradin, Mélanie, Jacquette, Aurélia, Sigaudy, Sabine, Pinson, Lucile, Sarda, Pierre, Guerrot, Anne‐Marie, Rossi, Massimiliano, Masurel‐Paulet, Alice, El Chehadeh, Salima, Piguel, Xavier, Rodriguez‐Ballesteros, Montserrat, Ragot, Stéphanie, Lyonnet, Stanislas, Bilan, Frédéric, Gilbert‐Dussardier, Brigitte
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.12.2017)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.12.2017)
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