Search Results - "DEMEER, Bénédicte"

BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells by Lessel, Davor, Gehbauer, Christina, Bramswig, Nuria C, Schluth-Bolard, Caroline, Venkataramanappa, Sathish, van Gassen, Koen L I, Hempel, Maja, Haack, Tobias B, Baresic, Anja, Genetti, Casie A, Funari, Mariana F A, Lessel, Ivana, Kuhlmann, Leonie, Simon, Ruth, Liu, Pentao, Denecke, Jonas, Kuechler, Alma, de Kruijff, Ineke, Shoukier, Moneef, Lek, Monkol, Mullen, Thomas, Lüdecke, Hermann-Josef, Lerario, Antonio M, Kobbe, Robin, Krieger, Thorsten, Demeer, Benedicte, Lebrun, Marine, Keren, Boris, Nava, Caroline, Buratti, Julien, Afenjar, Alexandra, Shinawi, Marwan, Guillen Sacoto, Maria J, Gauthier, Julie, Hamdan, Fadi F, Laberge, Anne-Marie, Campeau, Philippe M, Louie, Raymond J, Cathey, Sara S, Prinz, Immo, Jorge, Alexander A L, Terhal, Paulien A, Lenhard, Boris, Wieczorek, Dagmar, Strom, Tim M, Agrawal, Pankaj B, Britsch, Stefan, Tolosa, Eva, Kubisch, Christian

“…BCL11B is a transcriptional regulator of various developmental processes, and a BCL11B mutation has previously been reported in a single patient with syndromic…”
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Monoallelic CRMP1 gene variants cause neurodevelopmental disorder by Ravindran, Ethiraj, Arashiki, Nobuto, Becker, Lena-Luise, Takizawa, Kohtaro, Lévy, Jonathan, Rambaud, Thomas, Makridis, Konstantin L, Goshima, Yoshio, Li, Na, Vreeburg, Maaike, Demeer, Bénédicte, Dickmanns, Achim, Stegmann, Alexander P A, Hu, Hao, Nakamura, Fumio, Kaindl, Angela M

“…Collapsin response mediator proteins (CRMPs) are key for brain development and function. Here, we link CRMP1 to a neurodevelopmental disorder. We report…”
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ALDH1A3 Mutations Cause Recessive Anophthalmia and Microphthalmia by Fares-Taie, Lucas, Gerber, Sylvie, Chassaing, Nicolas, Clayton-Smith, Jill, Hanein, Sylvain, Silva, Eduardo, Serey, Margaux, Serre, Valérie, Gérard, Xavier, Baumann, Clarisse, Plessis, Ghislaine, Demeer, Bénédicte, Brétillon, Lionel, Bole, Christine, Nitschke, Patrick, Munnich, Arnold, Lyonnet, Stanislas, Calvas, Patrick, Kaplan, Josseline, Ragge, Nicola, Rozet, Jean-Michel

“…Anophthalmia and microphthalmia (A/M) are early-eye-development anomalies resulting in absent or small ocular globes, respectively. A/M anomalies occur in…”
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Maternal Transmission Ratio Distortion of GNAS Loss‐of‐Function Mutations by Snanoudj, Sarah, Molin, Arnaud, Colson, Cindy, Coudray, Nadia, Paulien, Sylvie, Mittre, Hervé, Gérard, Marion, Schaefer, Elise, Goldenberg, Alice, Bacchetta, Justine, Odent, Sylvie, Naudion, Sophie, Demeer, Bénédicte, Faivre, Laurence, Gruchy, Nicolas, Kottler, Marie‐Laure, Richard, Nicolas

“…ABSTRACT Pseudohypoparathyroidism type 1A (PHP1A) and pseudopseudohypoparathyroidism (PPHP) are two rare autosomal dominant disorders caused by…”
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Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations by Van‐Gils, Julien, Naudion, Sophie, Toutain, Jérôme, Lancelot, Gwenaelle, Attié‐Bitach, Tania, Blesson, Sophie, Demeer, Bénédicte, Doray, Bérénice, Gonzales, Marie, Martinovic, Jelena, Whalen, Sandra, Taine, Laurence, Arveiler, Benoit, Lacombe, Didier, Fergelot, Patricia

“…Rubinstein‐Taybi syndrome (RSTS; OMIM 180849) is an autosomal dominant developmental disorder characterized by facial dysmorphism, broad thumbs and halluces…”
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Unmasking familial CPX by WES and identification of novel clinical signs by Demeer, Bénédicte, Revencu, Nicole, Helaers, Raphael, Devauchelle, Bernard, François, Geneviève, Bayet, Bénédicte, Vikkula, Miikka

“…Mutations in the T‐Box transcription factor gene TBX22 are found in X‐linked Cleft Palate with or without Ankyloglossia syndrome (CPX syndrome). In addition to…”
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RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features by Palmer, Elizabeth E., Carroll, Renee, Shaw, Marie, Kumar, Raman, Minoche, Andre E., Leffler, Melanie, Murray, Lucinda, Macintosh, Rebecca, Wright, Dale, Troedson, Chris, McKenzie, Fiona, Townshend, Sharron, Ward, Michelle, Nawaz, Urwah, Ravine, Anja, Runke, Cassandra K., Thorland, Erik C., Hummel, Marybeth, Foulds, Nicola, Pichon, Olivier, Isidor, Bertrand, Le Caignec, Cédric, Demeer, Bénédicte, Andrieux, Joris, Albarazi, Salam Hadah, Bye, Ann, Sachdev, Rani, Kirk, Edwin P., Cowley, Mark J., Field, Mike, Gecz, Jozef

“…Interpretation of the significance of maternally inherited X chromosome variants in males with neurocognitive phenotypes continues to present a challenge to…”
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Phenotypic Spectrum of Simpson-Golabi-Behmel Syndrome in a Series of 42 Cases With a Mutation in GPC3 and Review of the Literature by COTTEREAU, EDOUARD, MORTEMOUSQUE, ISABELLE, MOIZARD, MARIE-PIERRE, BÜRGLEN, LYDIE, LACOMBE, DIDIER, GILBERT-DUSSARDIER, BRIGITTE, SIGAUDY, SABINE, BOUTE, ODILE, DAVID, ALBERT, FAIVRE, LAURENCE, AMIEL, JEANNE, ROBERTSON, ROBERT, VIANA RAMOS, FABIANA, BIETH, ERIC, ODENT, SYLVIE, DEMEER, BÉNÉDICTE, MATHIEU, MICHÉLE, GAILLARD, DOMINIQUE, VAN MALDERGEM, LIONEL, BAUJAT, GENEVIÉVE, MAYSTADT, ISABELLE, HÉRON, DELPHINE, VERLOES, ALAIN, PHILIP, NICOLE, CORMIER-DAIRE, VALÉRIE, FROUTÉ, MARIE-FRANÇOISE, PINSON, LUCILE, BLANCHET, PATRICIA, SARDA, PIERRE, WILLEMS, MARJOLAINE, JACQUINET, ADELINE, RATBI, ILHAM, VAN DEN ENDE, JENNEKE, LACKMY-PORT LIS, MARYLIN, GOLDENBERG, ALICE, BONNEAU, DOMINIQUE, ROSSIGNOL, SYLVIE, TOUTAIN, ANNICK

“…Simpson–Golabi–Behmel syndrome (SGBS) is a rare X‐linked multiple congenital abnormality/intellectual disability syndrome characterized by pre‐ and post‐natal…”
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Likely Pathogenic Variants in One Third of Non-Syndromic Discontinuous Cleft Lip and Palate Patients by Demeer, Bénédicte, Revencu, Nicole, Helaers, Raphael, Gbaguidi, Cica, Dakpe, Stéphanie, François, Geneviève, Devauchelle, Bernard, Bayet, Bénédicte, Vikkula, Miikka

“…Oral clefts are composed of cleft of the lip, cleft of the lip and palate, or cleft of the palate, and they are associated with a wide range of expression and…”
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Prenatal diagnosis of femoral facial syndrome: Three case reports and literature review by 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

“…Facial femoral syndrome (FFS) is a rare congenital abnormality, also known as femoral hypoplasia‐unusual facies syndrome, characterized by variable degrees of…”
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Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia by Plaisancié, Julie, Bailleul-Forestier, Isabelle, Gaston, Véronique, Vaysse, Fréderic, Lacombe, Didier, Holder-Espinasse, Muriel, Abramowicz, Marc, Coubes, Christine, Plessis, Ghislaine, Faivre, Laurence, Demeer, Bénédicte, Vincent-Delorme, Catherine, Dollfus, Hélène, Sigaudy, Sabine, Guillén-Navarro, Encarna, Verloes, Alain, Jonveaux, Philippe, Martin-Coignard, Dominique, Colin, Estelle, Bieth, Eric, Calvas, Patrick, Chassaing, Nicolas

“…Ectodermal dysplasias (ED) are a clinically and genetically heterogeneous group of hereditary disorders that have in common abnormal development of ectodermal…”
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Incomplete penetrance of biallelic ALDH1A3 mutations by Plaisancié, Julie, Brémond-Gignac, Dominique, Demeer, Bénédicte, Gaston, Véronique, Verloes, Alain, Fares-Taie, Lucas, Gerber, Sylvie, Rozet, Jean-Michel, Calvas, Patrick, Chassaing, Nicolas

“…Abstract The formation of a properly shaped eye is a complex developmental event that requires the coordination of many induction processes and differentiation…”
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A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial features by Boudry-Labis, Elise, Demeer, Bénédicte, Le Caignec, Cédric, Isidor, Bertrand, Mathieu-Dramard, Michèle, Plessis, Ghislaine, George, Alice M, Taylor, Juliet, Aftimos, Salim, Wiemer-Kruel, Adelheid, Kohlhase, Jürgen, Annerén, Göran, Firth, Helen, Simonic, Ingrid, Vermeesch, Joris, Thuresson, Ann-Charlotte, Copin, Henri, Love, Donald R, Andrieux, Joris

“…Abstract The increased use of array-CGH and SNP-arrays for genetic diagnosis has led to the identification of new microdeletion/microduplication syndromes and…”
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Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: Six new patients by Jedraszak, Guillaume, Demeer, Bénédicte, Mathieu-Dramard, Michèle, Andrieux, Joris, Receveur, Aline, Weber, Astrid, Maye, Una, Foulds, Nicola, Temple, IK, Crolla, John, Alex-Cordier, Marie-Pierre, Sanlaville, Damien, Ewans, Lisa, Wilson, Meredith, Armstrong, Ruth, Clarkson, Amanda, Copin, Henri, Morin, Gilles

“…Interstitial microdeletions of 20q chromosome are rare, only 17 patients have been reported in the literature to date. Among them, only six carried a proximal…”
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Duplication 16p13.3 and the CREBBP gene: Confirmation of the phenotype by Demeer, Bénédicte, Andrieux, Joris, Receveur, Aline, Morin, Gilles, Petit, Florence, Julia, Sophie, Plessis, Ghislaine, Martin-Coignard, Dominique, Delobel, Bruno, Firth, Helen V, Thuresson, Ann C, Lanco dosen, Sandrine, Sjörs, Kerstin, Le caignec, Cedric, Devriendt, Koenraad, Mathieu-Dramard, Michèle

“…Abstract The introduction of molecular karyotyping technologies into the diagnostic work-up of patients with congenital disorders permitted the identification…”
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KBP-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndrome by Drévillon, Loïc, Megarbane, André, Demeer, Bénédicte, Matar, Corine, Benit, Paule, Briand-Suleau, Audrey, Bodereau, Virginie, Ghoumid, Jamal, Nasser, Mayssa, Decrouy, Xavier, Doco-Fenzy, Martine, Rustin, Pierre, Gaillard, Dominique, Goossens, Michel, Giurgea, Irina

“…Goldberg-Shprintzen syndrome (GOSHS, MIM #609460) is an autosomal recessive disorder of intellectual disability, specific facial gestalt and Hirschsprung's…”
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Split-hand/foot malformation with long-bone deficiency and BHLHA9 duplication: Two cases and expansion of the phenotype to radial agenesis by Petit, Florence, Andrieux, Joris, Demeer, Bénédicte, Collet, Louis-Michel, Copin, Henri, Boudry-Labis, Elise, Escande, Fabienne, Manouvrier-Hanu, Sylvie, Mathieu-Dramard, Michèle

“…Abstract Split-hand/foot malformation (SHFM) with long-bone deficiency (SHFLD, MIM#119100) is a rare condition characterised by SHFM associated with long-bone…”
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ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia by Cossée, Mireille, Faivre, Laurence, Philippe, Christophe, Hichri, Heifa, de Saint-Martin, Anne, Laugel, Vincent, Bahi-Buisson, Nadia, Lemaitre, Jean-François, Leheup, Bruno, Delobel, Bruno, Demeer, Bénédicte, Poirier, Karine, Biancalana, Valérie, Pinoit, Jean-Michel, Julia, Sophie, Chelly, Jamel, Devys, Didier, Mandel, Jean-Louis

“…Mutations in the ARX gene cause both nonsyndromic and several forms of syndromic mental retardation (MR). Two polyalanine (polyA) expansions of ARX are…”
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What management for the asymptomatic men carriers of BRCA1 or 2 mutation? Results of a survey in the French oncogenetic centers by Brachot-Simeonova, Iglika, Morin, Gilles, Gillaux, Claire, Demeer, Bénédicte, Gondry, Jean, Mathieu, Michèle, Fauvet, Raffaèle

“…The aim of this survey of practice was to define, in the absence of guideline, the management in France of asymptomatic men bearing a mutation of BRCA1 or 2…”
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Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients : a pathogenic mutation and in-frame deletions of uncertain effect by COSSE, Mireille, DEMEER, Bénédicte, HEGDE, Sridevi, SPRINGELL, Kelly, THELMA, B. K, WOODS, Geoffrey, KALSCHEUER, Vera, MANDEL, Jean-Louis, BLANCHET, Patricia, ECHENNE, Bernard, SINGH, Deepika, HAGENS, Olivier, ANTIN, Manuela, FINCK, Sonja, VALLEE, Louis, DOLLFUS, Hélène

“…Mutations in PQBP1 were recently identified in families with syndromic and non-syndromic X-linked mental retardation (XLMR). Clinical features frequently…”
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