MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia
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
Published in Nature communications (30.11.2020)
Published in Nature communications (30.11.2020)
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Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects
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.
Published in Nature communications (09.06.2023)
Published in Nature communications (09.06.2023)
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Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals
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
Published in Genetics in medicine (2020)
Published in Genetics in medicine (2020)
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MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia
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
Published in Annals of neurology (01.04.2021)
Published in Annals of neurology (01.04.2021)
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Author Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects
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.
Published in Nature communications (15.06.2023)
Published in Nature communications (15.06.2023)
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Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome
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
Published in Nature genetics (01.09.2005)
Published in Nature genetics (01.09.2005)
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Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders
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
Published in eLife (17.01.2023)
Published in eLife (17.01.2023)
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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
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.
Published in Genetics in medicine (01.06.2020)
Published in Genetics in medicine (01.06.2020)
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Screening for Genomic Rearrangements and Methylation Abnormalities of the 15q11-q13 Region in Autism Spectrum Disorders
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
Published in Biological psychiatry (1969) (15.08.2009)
Published in Biological psychiatry (1969) (15.08.2009)
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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
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
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.05.2013)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.05.2013)
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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
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
Published in Orphanet journal of rare diseases (27.03.2012)
Published in Orphanet journal of rare diseases (27.03.2012)
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Childhood‐onset progressive dystonia associated with pathogenic truncating variants in CHD8
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
Published in Annals of clinical and translational neurology (01.10.2021)
Published in Annals of clinical and translational neurology (01.10.2021)
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Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutières syndrome
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
Published in European journal of paediatric neurology (01.07.2016)
Published in European journal of paediatric neurology (01.07.2016)
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Novel mutation in SLC9A6 gene in a patient with Christianson syndrome and retinitis pigmentosum
Mignot, Cyril, Héron, Delphine, Bursztyn, Joseph, Momtchilova, Marta, Mayer, Michèle, Whalen, Sandra, Legall, Anne, Billette de Villemeur, Thierry, Burglen, Lydie
Published in Brain & development (Tokyo. 1979) (01.02.2013)
Published in Brain & development (Tokyo. 1979) (01.02.2013)
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Clinical expression of Menkes disease in females with normal karyotype
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
Published in Orphanet journal of rare diseases (22.01.2012)
Published in Orphanet journal of rare diseases (22.01.2012)
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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
Gaston, V, Le Bouc, Y, Soupre, V, Burglen, L, Donadieu, J, Oro, H, Audry, G, Vazquez, M P, Gicquel, C
Published in European journal of human genetics : EJHG (01.06.2001)
Published in European journal of human genetics : EJHG (01.06.2001)
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Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome
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
Published in European journal of medical genetics (01.06.2013)
Published in European journal of medical genetics (01.06.2013)
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Tumor-like enlargement of the optic chiasm in an infant with Alexander disease
Mignot, Cyril, Desguerre, Isabelle, Burglen, Lydie, Hertz-Pannier, Lucie, Renaldo, Florence, Gadisseux, Jean-François, Gallet, Serge, Pham-Dinh, Danielle, Boespflug-Tanguy, Odile, Rodriguez, Diana
Published in Brain & development (Tokyo. 1979) (01.03.2009)
Published in Brain & development (Tokyo. 1979) (01.03.2009)
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Early neurological phenotype in 4 children with biallelic PRODH mutations
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
Published in Brain & development (Tokyo. 1979) (01.10.2007)
Published in Brain & development (Tokyo. 1979) (01.10.2007)
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De Novo and Inherited Deletions of the 5q13 Region in Spinal Muscular Atrophies
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
Published in Science (American Association for the Advancement of Science) (03.06.1994)
Published in Science (American Association for the Advancement of Science) (03.06.1994)
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