Search Results - "BURGLEN, Lydie"

MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia by Ucuncu, Ekin, Rajamani, Karthyayani, Wilson, Miranda S. C., Medina-Cano, Daniel, Altin, Nami, David, Pierre, Barcia, Giulia, Lefort, Nathalie, Banal, Céline, Vasilache-Dangles, Marie-Thérèse, Pitelet, Gaële, Lorino, Elsa, Rabasse, Nathalie, Bieth, Eric, Zaki, Maha S., Topcu, Meral, Sonmez, Fatma Mujgan, Musaev, Damir, Stanley, Valentina, Bole-Feysot, Christine, Nitschké, Patrick, Munnich, Arnold, Bahi-Buisson, Nadia, Fossoud, Catherine, Giuliano, Fabienne, Colleaux, Laurence, Burglen, Lydie, Gleeson, Joseph G., Boddaert, Nathalie, Saiardi, Adolfo, Cantagrel, Vincent

“…Inositol polyphosphates are vital metabolic and secondary messengers, involved in diverse cellular functions. Therefore, tight regulation of inositol…”
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Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects by Ayers, Katie L., Eggers, Stefanie, Rollo, Ben N., Smith, Katherine R., Davidson, Nadia M., Siddall, Nicole A., Zhao, Liang, Bowles, Josephine, Weiss, Karin, Zanni, Ginevra, Burglen, Lydie, Ben-Shachar, Shay, Rosensaft, Jenny, Raas-Rothschild, Annick, Jørgensen, Anne, Schittenhelm, Ralf B., Huang, Cheng, Robevska, Gorjana, van den Bergen, Jocelyn, Casagranda, Franca, Cyza, Justyna, Pachernegg, Svenja, Wright, David K., Bahlo, Melanie, Oshlack, Alicia, O’Brien, Terrence J., Kwan, Patrick, Koopman, Peter, Hime, Gary R., Girard, Nadine, Hoffmann, Chen, Shilon, Yuval, Zung, Amnon, Bertini, Enrico, Milh, Mathieu, Ben Rhouma, Bochra, Belguith, Neila, Bashamboo, Anu, McElreavey, Kenneth, Banne, Ehud, Weintrob, Naomi, BenZeev, Bruria, Sinclair, Andrew H.

“…Squamous cell carcinoma antigen recognized by T cells 3 ( SART3 ) is an RNA-binding protein with numerous biological functions including recycling small…”
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Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals by Margot, Henri, Boursier, Guilaine, Duflos, Claire, Sanchez, Elodie, Amiel, Jeanne, Andrau, Jean-Christophe, Arpin, Stéphanie, Brischoux-Boucher, Elise, Boute, Odile, Burglen, Lydie, Caille, Charlotte, Capri, Yline, Collignon, Patrick, Conrad, Solène, Cormier-Daire, Valérie, Delplancq, Geoffroy, Dieterich, Klaus, Dollfus, Hélène, Fradin, Mélanie, Faivre, Laurence, Fernandes, Helder, Francannet, Christine, Gatinois, Vincent, Gerard, Marion, Goldenberg, Alice, Ghoumid, Jamal, Grotto, Sarah, Guerrot, Anne-Marie, Guichet, Agnès, Isidor, Bertrand, Jacquemont, Marie-Line, Julia, Sophie, Khau Van Kien, Philippe, Legendre, Marine, Le Quan Sang, K. H., Leheup, Bruno, Lyonnet, Stanislas, Magry, Virginie, Manouvrier, Sylvie, Martin, Dominique, Morel, Godelieve, Munnich, Arnold, Naudion, Sophie, Odent, Sylvie, Perrin, Laurence, Petit, Florence, Philip, Nicole, Rio, Marlène, Robbe, Julie, Rossi, Massimiliano, Sarrazin, Elisabeth, Toutain, Annick, Van Gils, Julien, Vera, Gabriella, Verloes, Alain, Weber, Sacha, Whalen, Sandra, Sanlaville, Damien, Lacombe, Didier, Aladjidi, Nathalie, Geneviève, David

“…Purpose Kabuki syndrome (KS) (OMIM 147920 and 300867) is a rare genetic disorder characterized by specific facial features, intellectual disability, and…”
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MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia by Meng, Linyan, Isohanni, Pirjo, Shao, Yunru, Graham, Brett H., Hickey, Scott E., Brooks, Stephanie, Suomalainen, Anu, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Hackenberg, Annette, High, Frances A., Armstrong‐Javors, Amy, Mencacci, Niccolò E., Gonzàlez‐Latapi, Paulina, Kamel, Walaa A., Al‐Hashel, Jasem Y., Bustos, Bernabé I., Hernandez, Alejandro V., Krainc, Dimitri, Lubbe, Steven J., Van Esch, Hilde, De Luca, Chiara, Ballon, Katleen, Ravelli, Claudia, Burglen, Lydie, Qebibo, Leila, Calame, Daniel G., Mitani, Tadahiro, Marafi, Dana, Pehlivan, Davut, Saadi, Nebal W., Sahin, Yavuz, Maroofian, Reza, Efthymiou, Stephanie, Houlden, Henry, Maqbool, Shazia, Rahman, Fatima, Gu, Shen, Posey, Jennifer E., Lupski, James R., Hunter, Jill V., Wangler, Michael F., Carroll, Christopher J., Yang, Yaping

“…The Mediator multiprotein complex functions as a regulator of RNA polymerase II–catalyzed gene transcription. In this study, exome sequencing detected…”
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Author Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects by Ayers, Katie L., Eggers, Stefanie, Rollo, Ben N., Smith, Katherine R., Davidson, Nadia M., Siddall, Nicole A., Zhao, Liang, Bowles, Josephine, Weiss, Karin, Zanni, Ginevra, Burglen, Lydie, Ben-Shachar, Shay, Rosensaft, Jenny, Raas-Rothschild, Annick, Jørgensen, Anne, Schittenhelm, Ralf B., Huang, Cheng, Robevska, Gorjana, van den Bergen, Jocelyn, Casagranda, Franca, Cyza, Justyna, Pachernegg, Svenja, Wright, David K., Bahlo, Melanie, Oshlack, Alicia, O’Brien, Terrence J., Kwan, Patrick, Koopman, Peter, Hime, Gary R., Girard, Nadine, Hoffmann, Chen, Shilon, Yuval, Zung, Amnon, Bertini, Enrico, Milh, Mathieu, Ben Rhouma, Bochra, Belguith, Neila, Bashamboo, Anu, McElreavey, Kenneth, Banne, Ehud, Weintrob, Naomi, BenZeev, Bruria, Sinclair, Andrew H.

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Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders by Burglen, Lydie, Van Hoeymissen, Evelien, Qebibo, Leila, Barth, Magalie, Belnap, Newell, Boschann, Felix, Depienne, Christel, De Clercq, Katrien, Douglas, Andrew G L, Fitzgerald, Mark P, Foulds, Nicola, Garel, Catherine, Helbig, Ingo, Held, Katharina, Horn, Denise, Janssen, Annelies, Kaindl, Angela M, Narayanan, Vinodh, Prager, Christina, Rupin-Mas, Mailys, Afenjar, Alexandra, Zhao, Siyuan, Ramaekers, Vincent Th, Ruggiero, Sarah M, Thomas, Simon, Valence, Stéphanie, Van Maldergem, Lionel, Rohacs, Tibor, Rodriguez, Diana, Dyment, David, Voets, Thomas, Vriens, Joris

“…TRPM3 is a temperature- and neurosteroid-sensitive plasma membrane cation channel expressed in a variety of neuronal and non-neuronal cells. Recently, rare de…”
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Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome by Thibaud, Nathalie, Netchine, Irène, Merrer, Martine Le, Steunou, Virginie, Bouc, Yves Le, Bertrand, Anne-Marie, Danton, Fabienne, Cabrol, Sylvie, Gicquel, Christine, Houang, Muriel, Burglen, Lydie, Rossignol, Sylvie, Barbu, Véronique

“…Silver-Russell syndrome (SRS, OMIM 180860) is a congenital disorder characterized by severe intrauterine and postnatal growth retardation, dysmorphic facial…”
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Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival by Coulter, Michael E., Musaev, Damir, DeGennaro, Ellen M., Zhang, Xiaochang, Henke, Katrin, James, Kiely N., Smith, Richard S., Hill, R. Sean, Partlow, Jennifer N., Muna Al-Saffar, Kamumbu, A. Stacy, Hatem, Nicole, Barkovich, A. James, Aziza, Jacqueline, Chassaing, Nicolas, Zaki, Maha S., Sultan, Tipu, Burglen, Lydie, Rajab, Anna, Al-Gazali, Lihadh, Mochida, Ganeshwaran H., Harris, Matthew P., Gleeson, Joseph G., Walsh, Christopher A.

“…Purpose The exocyst complex is a conserved protein complex that mediates fusion of intracellular vesicles to the plasma membrane and is implicated in processes…”
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Screening for Genomic Rearrangements and Methylation Abnormalities of the 15q11-q13 Region in Autism Spectrum Disorders by Depienne, Christel, Moreno-De-Luca, Daniel, Heron, Delphine, Bouteiller, Delphine, Gennetier, Aurélie, Delorme, Richard, Chaste, Pauline, Siffroi, Jean-Pierre, Chantot-Bastaraud, Sandra, Benyahia, Baya, Trouillard, Oriane, Nygren, Gudrun, Kopp, Svenny, Johansson, Maria, Rastam, Maria, Burglen, Lydie, Leguern, Eric, Verloes, Alain, Leboyer, Marion, Brice, Alexis, Gillberg, Christopher, Betancur, Catalina

“…Background Maternally derived duplications of the 15q11-q13 region are the most frequently reported chromosomal aberrations in autism spectrum disorders (ASD)…”
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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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Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient by Burglen, Lydie, Chantot-Bastaraud, Sandra, Garel, Catherine, Milh, Mathieu, Touraine, Renaud, Zanni, Ginevra, Petit, Florence, Afenjar, Alexandra, Goizet, Cyril, Barresi, Sabina, Coussement, Aurélie, Ioos, Christine, Lazaro, Leila, Joriot, Sylvie, Desguerre, Isabelle, Lacombe, Didier, des Portes, Vincent, Bertini, Enrico, Siffroi, Jean-Pierre, de Villemeur, Thierry Billette, Rodriguez, Diana

“…Pontocerebellar hypoplasia (PCH) is a heterogeneous group of diseases characterized by lack of development and/or early neurodegeneration of cerebellum and…”
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Childhood‐onset progressive dystonia associated with pathogenic truncating variants in CHD8 by Doummar, Diane, Treven, Marco, Qebibo, Leila, Devos, David, Ghoumid, Jamal, Ravelli, Claudia, Kranz, Gottfried, Krenn, Martin, Demailly, Diane, Cif, Laura, Davion, Jean‐Baptiste, Zimprich, Fritz, Burglen, Lydie, Zech, Michael

“…Originally described as a risk factor for autism, CHD8 loss‐of‐function variants have recently been associated with a wider spectrum of neurodevelopmental…”
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Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutières syndrome by Tonduti, Davide, MD, Orcesi, Simona, MD, Jenkinson, Emma M., BSc, PhD, Dorboz, Imen, PhD, Renaldo, Florence, MD, Panteghini, Celeste, MSC, Rice, Gillian I., BSc, PhD, Henneke, Marco, MD, Livingston, John H., MBCHB, FRCP, FRCPCH, Elmaleh, Monique, MD, Burglen, Lydie, PhD, Willemsen, Michèl AAP., MD, Chiapparini, Luisa, MD, Garavaglia, Barbara, PhD, Rodriguez, Diana, PhD, Boespflug-Tanguy, Odile, PhD, Moroni, Isabella, MD, Crow, Yanick J., MD, PhD

“…Abstract Background: Cystic leukoencephalopathy without megalencephaly is a disorder related in some cases to RNASET2 mutations and characterized by bilateral…”
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Novel mutation in SLC9A6 gene in a patient with Christianson syndrome and retinitis pigmentosum by Mignot, Cyril, Héron, Delphine, Bursztyn, Joseph, Momtchilova, Marta, Mayer, Michèle, Whalen, Sandra, Legall, Anne, Billette de Villemeur, Thierry, Burglen, Lydie

“…Abstract Mutations in the SLC9A6 gene cause Christianson syndrome in boys. This X-linked syndrome is characterized by profound mental retardation with autistic…”
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Clinical expression of Menkes disease in females with normal karyotype by Møller, Lisbeth Birk, Lenartowicz, Malgorzata, Zabot, Marie-Therese, Josiane, Arnaud, Burglen, Lydie, Bennett, Chris, Riconda, Daniel, Fisher, Richard, Janssens, Sandra, Mohammed, Shehla, Ausems, Margreet, Tümer, Zeynep, Horn, Nina, Jensen, Thomas G

“…Menkes Disease (MD) is a rare X-linked recessive fatal neurodegenerative disorder caused by mutations in the ATP7A gene, and most patients are males. Female…”
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Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith-Wiedemann syndrome by Gaston, V, Le Bouc, Y, Soupre, V, Burglen, L, Donadieu, J, Oro, H, Audry, G, Vazquez, M P, Gicquel, C

“…Beckwith-Wiedemann syndrome (BWS) is an overgrowth disorder involving developmental abnormalities, tissue and organ hyperplasia and an increased risk of…”
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Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome by Darmency-Stamboul, Véronique, Burglen, Lydie, Lopez, Estelle, Mejean, Nathalie, Dean, John, Franco, Brunella, Rodriguez, Diana, Lacombe, Didier, Desguerres, Isabelle, Cormier-Daire, Valérie, Doray, Bérénice, Pasquier, Laurent, Gonzales, Marie, Pastore, Matthew, Crenshaw, Melissa L, Huet, Frédéric, Gigot, Nadège, Aral, Bernard, Callier, Patrick, Faivre, Laurence, Attié-Bitach, Tania, Thauvin-Robinet, Christel

“…Abstract Oral-facial-digital syndrome type VI (OFD VI) is characterized by the association of malformations of the face, oral cavity and extremities,…”
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Tumor-like enlargement of the optic chiasm in an infant with Alexander disease by Mignot, Cyril, Desguerre, Isabelle, Burglen, Lydie, Hertz-Pannier, Lucie, Renaldo, Florence, Gadisseux, Jean-François, Gallet, Serge, Pham-Dinh, Danielle, Boespflug-Tanguy, Odile, Rodriguez, Diana

“…Abstract We report a patient with infantile Alexander disease (AXD) due to the recurrent p.Arg79Cys GFAP mutation. In addition to typical AXD abnormalities,…”
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Early neurological phenotype in 4 children with biallelic PRODH mutations by Afenjar, Alexandra, Moutard, Marie-Laure, Doummar, Diane, Guët, Agnés, Rabier, Daniel, Vermersch, Anne-Isabelle, Mignot, Cyril, Burglen, Lydie, Heron, Delphine, Thioulouse, Elizabeth, de Villemeur, Thierry Billette, Campion, Dominique, Rodriguez, Diana

“…Hyperprolinemia type I (HPI) results from a deficiency of proline oxidase (POX), involved in the first step in the conversion of proline to glutamate. Diverse…”
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De Novo and Inherited Deletions of the 5q13 Region in Spinal Muscular Atrophies by Melki, Judith, Lefebvre, Suzie, Burglen, Lydie, Burlet, Philippe, Clermont, Olivier, Millasseau, Philippe, Reboullet, Sophie, Bénichou, Bernard, Zeviani, Massimo, Le Paslier, Denis, Cohen, Daniel, Weissenbach, Jean, Munnich, Arnold

“…Spinal muscular atrophies (SMAs) represent the second most common fatal autosomal recessive disorder after cystic fibrosis. Childhood spinal muscular atrophies…”
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