Search Results - "Serey, Margaux"

RIPOR2 : A new gene of non‐syndromic cochleovestibular dysfunction, discrepancy between human pathology and animal models by Morel, Godelieve, Ernest, Sylvain, Serey‐Gaut, Margaux, Jonard, Laurence, Balogoun, Abeke Ralyath, Parodi, Marine, Loundon, Natalie, Achard, Sophie, Marlin, Sandrine

“…Cochleovestibular dysfunctions are rare conditions misrecognized. A homozygous pathogenic variation c.1561C > T (p.Arg521*) in RIPOR2 (RHO family interacting…”
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HDR syndrome: Large cohort and systematic review by Rive Le Gouard, Nicolas, Lafond‐Rive, Valentin, Jonard, Laurence, Loundon, Natalie, Achard, Sophie, Heidet, Laurence, Mosnier, Isabelle, Lyonnet, Stanislas, Brioude, Frederic, Serey Gaut, Margaux, Marlin, Sandrine

“…HDR syndrome is a rare disease characterized by hypoparathyroidism, deafness, and renal dysplasia. An autosomal dominant disease caused by heterozygous…”
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A 22q13.1 duplication in mosaicism including SOX10 by Bertani-Torres, William, Serey-Gaut, Margaux, de Oliveira, Judite, Bole, Christine, Parisot, Mélanie, Nistschké, Patrick, Maurin, Marie-Laure, Lapierre, Jean-Michel, Loundon, Natalie, Belhous, Kahina, Bondurand, Nadège, Marlin, Sandrine, Pingault, Véronique

“…Waardenburg syndrome (WS) is characterized by the association of sensorineural hearing loss and pigmentation abnormalities. Among the four types, WS Type 2…”
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Congenital posterior cervical spine malformation due to biallelic c.240‐4T>G RIPPLY2 variant: A discrete entity by Serey‐Gaut, Margaux, Scala, Marcello, Reversade, Bruno, Ruaud, Lyse, Cabrol, Christelle, Musacchia, Francesco, Torella, Annalaura, Accogli, Andrea, Escande‐Beillard, Nathalie, Langlais, Jean, Piatelli, Gianluca, Consales, Alessandro, Nigro, Vincenzo, Capra, Valeria, Van Maldergem, Lionel

“…The clinical and radiological spectrum of spondylocostal dysostosis syndromes encompasses distinctive costo‐vertebral anomalies. RIPPLY2 biallelic pathogenic…”
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Genetic Evaluation of Prelingual Hearing Impairment: Recommendations of an European Network for Genetic Hearing Impairment by Jonard, Laurence, Brotto, Davide, Moreno-Pelayo, Miguel A., del Castillo, Ignacio, Kremer, Hannie, Pennings, Ronald, Caria, Helena, Fialho, Graça, Boudewyns, An, Van Camp, Guy, Ołdak, Monika, Oziębło, Dominika, Deggouj, Naïma, De Siati, Romolo Daniele, Gasparini, Paolo, Girotto, Giorgia, Verstreken, Margriet, Dossena, Silvia, Roesch, Sebastian, Battelino, Saba, Trebušak Podkrajšek, Katarina, Warnecke, Athanasia, Lenarz, Thomas, Lesinski-Schiedat, Anke, Mondain, Michel, Roux, Anne-Françoise, Denoyelle, Françoise, Loundon, Natalie, Serey Gaut, Margaux, Trevisi, Patrizia, Rubinato, Elisa, Martini, Alessandro, Marlin, Sandrine

“…The cause of childhood hearing impairment (excluding infectious pathology of the middle ear) can be extrinsic (embryofoetopathy, meningitis, trauma, drug…”
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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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Recurrent Benign Paroxysmal Positional Vertigo in DFNB16 Patients with Biallelic STRC Gene Deletions by Achard, Sophie, Campion, Margaux, Parodi, Marine, MacAskill, Melissa, Hochet, Baptiste, Simon, François, Rouillon, Isabelle, Jonard, Laurence, Serey-Gaut, Margaux, Denoyelle, Françoise, Loundon, Natalie, Marlin, Sandrine

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Recurrent Benign Paroxysmal Positional Vertigo in DFNB16 Patients with Biallelic STRC Gene Deletions by Achard, Sophie, Campion, Margaux, Parodi, Marine, MacAskill, Melissa, Hochet, Baptiste, Simon, François, Rouillon, Isabelle, Jonard, Laurence, Serey-Gaut, Margaux, Denoyelle, Françoise, Loundon, Natalie, Marlin, Sandrine

“…Deletions of STRC gene (DFNB16) account for 12% of isolated congenital mild to moderate hearing loss (HL). In mice, the stereocilin protein, encoded by STRC ,…”
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A 22q13.1 duplication in mosaicism including SOX10 by Bertani-Torres, William, Serey-Gaut, Margaux, de Oliveira, Judite, Bole, Christine, Parisot, Mélanie, Nistschké, Patrick, Maurin, Marie-Laure, Lapierre, Jean-Michel, Loundon, Natalie, Belhous, Kahina, Bondurand, Nadège, Marlin, Sandrine, Pingault, Véronique

“…Waardenburg syndrome (WS) is characterized by the association of sensorineural hearing loss and pigmentation abnormalities. Among the four types, WS Type 2…”
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Congenital posterior cervical spine malformation due to biallelic c.240-4T>G RIPPLY2 variant: A discrete entity by Serey-Gaut, Margaux, Scala, Marcello, Reversade, Bruno, Ruaud, Lyse, Cabrol, Christelle, Musacchia, Francesco, Torella, Annalaura, Accogli, Andrea, Escande-Beillard, Nathalie, Langlais, Jean, Piatelli, Gianluca, Consales, Alessandro, Nigro, Vincenzo, Capra, Valeria, Van Maldergem, Lionel

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