Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism
Michaud, Vincent, Sequeira, Angèle, Mercier, Elina, Lasseaux, Eulalie, Plaisant, Claudio, Hadj‐Rabia, Smail, Whalen, Sandra, Bonneau, Dominique, Dieux‐Coeslier, Anne, Morice‐Picard, Fanny, Coursimault, Juliette, Arveiler, Benoît, Javerzat, Sophie
Published in Pigment cell and melanoma research (01.09.2024)
Published in Pigment cell and melanoma research (01.09.2024)
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Dissection of contiguous gene effects for deletions around ERF on chromosome 19
Calpena, Eduardo, McGowan, Simon J., Blanco Kelly, Fiona, Boudry‐Labis, Elise, Dieux‐Coeslier, Anne, Harrison, Rachel, Johnson, Diana, Lachlan, Katherine, Morton, Jenny E. V., Stewart, Helen, Vasudevan, Pradeep, Twigg, Stephen R. F., Wilkie, Andrew O. M.
Published in Human mutation (01.07.2021)
Published in Human mutation (01.07.2021)
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Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications
Wolfe, Kate, McQuillin, Andrew, Alesi, Viola, Boudry Labis, Elise, Cutajar, Peter, Dallapiccola, Bruno, Dentici, Maria Lisa, Dieux‐Coeslier, Anne, Duban‐Bedu, Benedicte, Duelund Hjortshøj, Tina, Goel, Himanshu, Loddo, Sara, Morrogh, Deborah, Mosca‐Boidron, Anne‐Laure, Novelli, Antonio, Olivier‐Faivre, Laurence, Parker, Jennifer, Parker, Michael J., Patch, Christine, Pelling, Anna L., Smol, Thomas, Tümer, Zeynep, Vanakker, Olivier, van Haeringen, Arie, Vanlerberghe, Clémence, Strydom, Andre, Skuse, David, Bass, Nick
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.06.2018)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.06.2018)
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Journal Article
NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype
Pasmant, Eric, Sabbagh, Audrey, Spurlock, Gill, Laurendeau, Ingrid, Grillo, Elisa, Hamel, Marie-José, Martin, Ludovic, Barbarot, Sébastien, Leheup, Bruno, Rodriguez, Diana, Lacombe, Didier, Dollfus, Hélène, Pasquier, Laurent, Isidor, Bertrand, Ferkal, Salah, Soulier, Jean, Sanson, Marc, Dieux-Coeslier, Anne, Bièche, Ivan, Parfait, Béatrice, Vidaud, Michel, Wolkenstein, Pierre, Upadhyaya, Meena, Vidaud, Dominique
Published in Human mutation (01.06.2010)
Published in Human mutation (01.06.2010)
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Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis
Maluenda, Jérôme, Manso, Constance, Quevarec, Loic, Vivanti, Alexandre, Marguet, Florent, Gonzales, Marie, Guimiot, Fabien, Petit, Florence, Toutain, Annick, Whalen, Sandra, Grigorescu, Romulus, Coeslier, Anne Dieux, Gut, Marta, Gut, Ivo, Laquerrière, Annie, Devaux, Jérôme, Melki, Judith
Published in American journal of human genetics (06.10.2016)
Published in American journal of human genetics (06.10.2016)
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Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome
Narumi, Yoko, Aoki, Yoko, Niihori, Tetsuya, Sakurai, Masahiro, Cavé, Hélène, Verloes, Alain, Nishio, Kimio, Ohashi, Hirofumi, Kurosawa, Kenji, Okamoto, Nobuhiko, Kawame, Hiroshi, Mizuno, Seiji, Kondoh, Tatsuro, Addor, Marie-Claude, Coeslier-Dieux, Anne, Vincent-Delorme, Catherine, Tabayashi, Koichi, Aoki, Masashi, Kobayashi, Tomoko, Guliyeva, Afag, Kure, Shigeo, Matsubara, Yoichi
Published in Journal of human genetics (01.09.2008)
Published in Journal of human genetics (01.09.2008)
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Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation
Grampa, Valentina, Delous, Marion, Zaidan, Mohamad, Odye, Gweltas, Thomas, Sophie, Elkhartoufi, Nadia, Filhol, Emilie, Niel, Olivier, Silbermann, Flora, Lebreton, Corinne, Collardeau-Frachon, Sophie, Rouvet, Isabelle, Alessandri, Jean-Luc, Devisme, Louise, Dieux-Coeslier, Anne, Cordier, Marie-Pierre, Capri, Yline, Khung-Savatovsky, Suonavy, Sigaudy, Sabine, Salomon, Rémi, Antignac, Corinne, Gubler, Marie-Claire, Benmerah, Alexandre, Terzi, Fabiola, Attié-Bitach, Tania, Jeanpierre, Cécile, Saunier, Sophie
Published in PLoS genetics (11.03.2016)
Published in PLoS genetics (11.03.2016)
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Nail-Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity
Ghoumid, Jamal, Petit, Florence, Holder-Espinasse, Muriel, Jourdain, Anne-Sophie, Guerra, José, Dieux-Coeslier, Anne, Figeac, Martin, Porchet, Nicole, Manouvrier-Hanu, Sylvie, Escande, Fabienne
Published in European journal of human genetics : EJHG (01.01.2016)
Published in European journal of human genetics : EJHG (01.01.2016)
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Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families
Baujat, Geneviève, Huber, Céline, El Hokayem, Joyce, Caumes, Roseline, Do Ngoc Thanh, Claire, David, Albert, Delezoide, Anne-Lise, Dieux-Coeslier, Anne, Estournet, Brigitte, Francannet, Christine, Kayirangwa, Honorine, Lacaille, Florence, Le Bourgeois, Muriel, Martinovic, Jelena, Salomon, Rémi, Sigaudy, Sabine, Malan, Valérie, Munnich, Arnold, Le Merrer, Martine, Le Quan Sang, Kim Hanh, Cormier-Daire, Valérie
Published in Journal of medical genetics (01.02.2013)
Published in Journal of medical genetics (01.02.2013)
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Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia
Cavé, Hélène, Caye, Aurélie, Ghedira, Nehla, Capri, Yline, Pouvreau, Nathalie, Fillot, Natacha, Trimouille, Aurélien, Vignal, Cédric, Fenneteau, Odile, Alembik, Yves, Alessandri, Jean-Luc, Blanchet, Patricia, Boute, Odile, Bouvagnet, Patrice, David, Albert, Dieux Coeslier, Anne, Doray, Bérénice, Dulac, Olivier, Drouin-Garraud, Valérie, Gérard, Marion, Héron, Delphine, Isidor, Bertrand, Lacombe, Didier, Lyonnet, Stanislas, Perrin, Laurence, Rio, Marlène, Roume, Joëlle, Sauvion, Sylvie, Toutain, Annick, Vincent-Delorme, Catherine, Willems, Marjorie, Baumann, Clarisse, Verloes, Alain
Published in European journal of human genetics : EJHG (01.08.2016)
Published in European journal of human genetics : EJHG (01.08.2016)
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De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations
Dennert, Nicola, Engels, Hartmut, Cremer, Kirsten, Becker, Jessica, Wohlleber, Eva, Albrecht, Beate, Ehret, Julia K., Lüdecke, Hermann‐Josef, Suri, Mohnish, Carignani, Giulia, Renieri, Alessandra, Kukuk, Guido M., Wieland, Thomas, Andrieux, Joris, Strom, Tim M., Wieczorek, Dagmar, Dieux‐Coëslier, Anne, Zink, Alexander M.
Published in American journal of medical genetics. Part A (01.02.2017)
Published in American journal of medical genetics. Part A (01.02.2017)
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Prenatal diagnosis of femoral facial syndrome: Three case reports and literature review
Luisin, Marion, Chevreau, Julien, Klein, Céline, Naepels, Philippe, Demeer, Bénédicte, Mathieu‐Dramard, Michèle, Jedraszak, Guillaume, Gondry‐Jouet, Catherine, Gondry, Jean, Dieux‐Coeslier, Anne, Morin, Gilles
Published in American journal of medical genetics. Part A (01.11.2017)
Published in American journal of medical genetics. Part A (01.11.2017)
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Deletions in the 3′ Part of the NFIX Gene Including a Recurrent Alu-Mediated Deletion of Exon 6 and 7 Account for Previously Unexplained Cases of Marshall-Smith Syndrome
Schanze, Denny, Neubauer, Dorothée, Cormier-Daire, Valerie, Delrue, Marie-Ange, Dieux-Coeslier, Anne, Hasegawa, Tomonobu, Holmberg, Eva E., Koenig, Rainer, Krueger, Gabriele, Schanze, Ina, Seemanova, Eva, Shaw, Adam C., Vogt, Julie, Volleth, Marianne, Reis, André, Meinecke, Peter, Hennekam, Raoul C.M., Zenker, Martin
Published in Human mutation (01.09.2014)
Published in Human mutation (01.09.2014)
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A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome
Drivas, Theodore G, Li, Dong, Nair, Divya, Alaimo, Joseph T, Alders, Mariëlle, Altmüller, Janine, Barakat, Tahsin Stefan, Bebin, E Martina, Bertsch, Nicole L, Blackburn, Patrick R, Blesson, Alyssa, Bouman, Arjan M, Brockmann, Knut, Brunelle, Perrine, Burmeister, Margit, Cooper, Gregory M, Denecke, Jonas, Dieux-Coëslier, Anne, Dubbs, Holly, Ferrer, Alejandro, Gal, Danna, Bartik, Lauren E, Gunderson, Lauren B, Hasadsri, Linda, Jain, Mahim, Karimov, Catherine, Keena, Beth, Klee, Eric W, Kloth, Katja, Lace, Baiba, Macchiaiolo, Marina, Marcadier, Julien L, Milunsky, Jeff M, Napier, Melanie P, Ortiz-Gonzalez, Xilma R, Pichurin, Pavel N, Pinner, Jason, Powis, Zoe, Prasad, Chitra, Radio, Francesca Clementina, Rasmussen, Kristen J, Renaud, Deborah L, Rush, Eric T, Saunders, Carol, Selcen, Duygu, Seman, Ann R, Shinde, Deepali N, Smith, Erica D, Smol, Thomas, Snijders Blok, Lot, Stoler, Joan M, Tang, Sha, Tartaglia, Marco, Thompson, Michelle L, van de Kamp, Jiddeke M, Wang, Jingmin, Weise, Dagmar, Weiss, Karin, Woitschach, Rixa, Wollnik, Bernd, Yan, Huifang, Zackai, Elaine H, Zampino, Giuseppe, Campeau, Philippe, Bhoj, Elizabeth
Published in European journal of human genetics : EJHG (01.10.2020)
Published in European journal of human genetics : EJHG (01.10.2020)
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Gain of function due to increased opening probability by two KCNQ5 pore variants causing developmental and epileptic encephalopathy
Nappi, Mario, Barrese, Vincenzo, Carotenuto, Lidia, Lesca, Gaetan, Labalme, Audrey, Ville, Dorothee, Smol, Thomas, Rama, Mélanie, Dieux-Coeslier, Anne, Rivier-Ringenbach, Clotilde, Soldovieri, Maria Virginia, Ambrosino, Paolo, Mosca, Ilaria, Pusch, Michael, Miceli, Francesco, Taglialatela, Maurizio
Published in Proceedings of the National Academy of Sciences - PNAS (12.04.2022)
Published in Proceedings of the National Academy of Sciences - PNAS (12.04.2022)
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Metaphyseal chondrodysplasia with cone‐shaped epiphyses: A specific form involving the lower limbs
Dieux‐Coëslier, Anne, Moerman, Alexandre, Holder, Muriel, Boute, Odile, Maroteaux, Pierre, Manouvrier, Sylvie, Le Merrer, Martine
Published in American journal of medical genetics. Part A (01.01.2004)
Published in American journal of medical genetics. Part A (01.01.2004)
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Neurodevelopmental phenotype associated with CHD8-SUPT16H duplication
Smol, Thomas, Thuillier, Caroline, Boudry-Labis, Elise, Dieux-Coeslier, Anne, Duban-Bedu, Bénédicte, Caumes, Roseline, Bouquillon, Sonia, Manouvrier-Hanu, Sylvie, Roche-Lestienne, Catherine, Ghoumid, Jamal
Published in Neurogenetics (2020)
Published in Neurogenetics (2020)
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Variable clinical expression in patients with mosaicism for KCNQ2 mutations
Milh, Mathieu, Lacoste, Caroline, Cacciagli, Pierre, Abidi, Affef, Sutera-Sardo, Julie, Tzelepis, Ilias, Colin, Estelle, Badens, Catherine, Afenjar, Alexandra, Coeslier, Anne Dieux, Dailland, Thomas, Lesca, Gaetan, Philip, Nicole, Villard, Laurent
Published in American journal of medical genetics. Part A (01.10.2015)
Published in American journal of medical genetics. Part A (01.10.2015)
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