Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: Congenital dislocations and vertebral changes as principal diagnostic features
Unger, Sheila, Lausch, Ekkehart, Rossi, Antonio, Mégarbané, Andre, Sillence, David, Alcausin, Melanie, Aytes, Antonio, Mendoza-Londono, Roberto, Nampoothiri, Sheela, Afroze, Bushra, Hall, Bryan, Lo, Ivan F.M., Lam, Stephen T.S., Hoefele, Julia, Rost, Imma, Wakeling, Emma, Mangold, Elisabeth, Godbole, Komudi, Vatanavicharn, Nithiwat, Franco, Luis M., Chandler, Kate, Hollander, Sophia, Velten, Tanja, Reicherter, Kerstin, Spranger, Jürgen, Robertson, Stephen, Bonafé, Luisa, Zabel, Bernhard, Superti-Furga, Andrea
Published in American journal of medical genetics. Part A (01.10.2010)
Published in American journal of medical genetics. Part A (01.10.2010)
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Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice
Rainger, Joe, van Beusekom, Ellen, Ramsay, Jacqueline K, McKie, Lisa, Al-Gazali, Lihadh, Pallotta, Rosanna, Saponari, Anita, Branney, Peter, Fisher, Malcolm, Morrison, Harris, Bicknell, Louise, Gautier, Philippe, Perry, Paul, Sokhi, Kishan, Sexton, David, Bardakjian, Tanya M, Schneider, Adele S, Elcioglu, Nursel, Ozkinay, Ferda, Koenig, Rainer, Mégarbané, Andre, Semerci, C Nur, Khan, Ayesha, Zafar, Saemah, Hennekam, Raoul, Sousa, Sérgio B, Ramos, Lina, Garavelli, Livia, Furga, Andrea Superti, Wischmeijer, Anita, Jackson, Ian J, Gillessen-Kaesbach, Gabriele, Brunner, Han G, Wieczorek, Dagmar, van Bokhoven, Hans, FitzPatrick, David R
Published in PLoS genetics (01.12.2018)
Published in PLoS genetics (01.12.2018)
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Vibratory Urticaria Associated with a Missense Variant in ADGRE2
Boyden, Steven E, Desai, Avanti, Cruse, Glenn, Young, Michael L, Bolan, Hyejeong C, Scott, Linda M, Eisch, A. Robin, Long, R. Daniel, Lee, Chyi-Chia R, Satorius, Colleen L, Pakstis, Andrew J, Olivera, Ana, Mullikin, James C, Chouery, Eliane, Mégarbané, André, Medlej-Hashim, Myrna, Kidd, Kenneth K, Kastner, Daniel L, Metcalfe, Dean D, Komarow, Hirsh D
Published in The New England journal of medicine (18.02.2016)
Published in The New England journal of medicine (18.02.2016)
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Transcriptomic study in women with trisomy 21 identifies a possible role of the GTPases of the immunity-associated proteins (GIMAP) in the protection of breast cancer
Mégarbané, André, Piquemal, David, Rebillat, Anne-Sophie, Stora, Samantha, Pierrat, Fabien, Bruno, Roman, Noguier, Florian, Mircher, Clotilde, Ravel, Aimé, Vilaire-Meunier, Marie, Durand, Sophie, Lefranc, Gérard
Published in Scientific reports (10.06.2020)
Published in Scientific reports (10.06.2020)
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Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes
Bruel, Ange-Line, Franco, Brunella, Duffourd, Yannis, Thevenon, Julien, Jego, Laurence, Lopez, Estelle, Deleuze, Jean-François, Doummar, Diane, Giles, Rachel H, Johnson, Colin A, Huynen, Martijn A, Chevrier, Véronique, Burglen, Lydie, Morleo, Manuela, Desguerres, Isabelle, Pierquin, Geneviève, Doray, Bérénice, Gilbert-Dussardier, Brigitte, Reversade, Bruno, Steichen-Gersdorf, Elisabeth, Baumann, Clarisse, Panigrahi, Inusha, Fargeot-Espaliat, Anne, Dieux, Anne, David, Albert, Goldenberg, Alice, Bongers, Ernie, Gaillard, Dominique, Argente, Jesús, Aral, Bernard, Gigot, Nadège, St-Onge, Judith, Birnbaum, Daniel, Phadke, Shubha R, Cormier-Daire, Valérie, Eguether, Thibaut, Pazour, Gregory J, Herranz-Pérez, Vicente, Goldstein, Jaclyn S, Pasquier, Laurent, Loget, Philippe, Saunier, Sophie, Mégarbané, André, Rosnet, Olivier, Leroux, Michel R, Wallingford, John B, Blacque, Oliver E, Nachury, Maxence V, Attie-Bitach, Tania, Rivière, Jean-Baptiste, Faivre, Laurence, Thauvin-Robinet, Christel
Published in Journal of Medical Genetics (01.06.2017)
Published in Journal of Medical Genetics (01.06.2017)
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Book Review
Web Resource
Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families
Makrythanasis, Periklis, Nelis, Mari, Santoni, Federico A., Guipponi, Michel, Vannier, Anne, Béna, Frédérique, Gimelli, Stefania, Stathaki, Elisavet, Temtamy, Samia, Mégarbané, André, Masri, Amira, Aglan, Mona S., Zaki, Maha S., Bottani, Armand, Fokstuen, Siv, Gwanmesia, Lorraine, Aliferis, Konstantinos, Bustamante Eduardo, Mariana, Stamoulis, Georgios, Psoni, Stavroula, Kitsiou-Tzeli, Sofia, Fryssira, Helen, Kanavakis, Emmanouil, Al-Allawi, Nasir, Sefiani, Abdelaziz, Al Hait, Sana', Elalaoui, Siham C., Jalkh, Nadine, Al-Gazali, Lihadh, Al-Jasmi, Fatma, Bouhamed, Habiba Chaabouni, Abdalla, Ebtesam, Cooper, David N., Hamamy, Hanan, Antonarakis, Stylianos E.
Published in Human mutation (01.10.2014)
Published in Human mutation (01.10.2014)
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Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3
Lefèvre, Caroline, Bouadjar, Bakar, Ferrand, Véronique, Tadini, Gianluca, Mégarbané, André, Lathrop, Mark, Prud'homme, Jean-François, Fischer, Judith
Published in Human molecular genetics (01.03.2006)
Published in Human molecular genetics (01.03.2006)
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Three complex alleles of CFTR gene identified in Lebanese, Egyptian and French population and their potential impact on splicing
Farhat, Raëd, El-Seedy, Ayman, Pasquet, Marie-Claude, Corbani, Sandra, Mégarbané, André, Ladeveze, Veronique, Kitzis, Alain
Published in Cellular and Molecular Biology (30.04.2022)
Published in Cellular and Molecular Biology (30.04.2022)
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Mutations in FGD4 Encoding the Rho GDP/GTP Exchange Factor FRABIN Cause Autosomal Recessive Charcot-Marie-Tooth Type 4H
Delague, Valérie, Jacquier, Arnaud, Hamadouche, Tarik, Poitelon, Yannick, Baudot, Cécile, Boccaccio, Irène, Chouery, Eliane, Chaouch, Malika, Kassouri, Nora, Jabbour, Rosette, Grid, Djamel, Mégarbané, André, Haase, Georg, Lévy, Nicolas
Published in American journal of human genetics (01.07.2007)
Published in American journal of human genetics (01.07.2007)
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Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production
Brehm, Anja, Liu, Yin, Sheikh, Afzal, Marrero, Bernadette, Omoyinmi, Ebun, Zhou, Qing, Montealegre, Gina, Biancotto, Angelique, Reinhardt, Adam, Almeida de Jesus, Adriana, Pelletier, Martin, Tsai, Wanxia L, Remmers, Elaine F, Kardava, Lela, Hill, Suvimol, Kim, Hanna, Lachmann, Helen J, Megarbane, Andre, Chae, Jae Jin, Brady, Jilian, Castillo, Rhina D, Brown, Diane, Casano, Angel Vera, Gao, Ling, Chapelle, Dawn, Huang, Yan, Stone, Deborah, Chen, Yongqing, Sotzny, Franziska, Lee, Chyi-Chia Richard, Kastner, Daniel L, Torrelo, Antonio, Zlotogorski, Abraham, Moir, Susan, Gadina, Massimo, McCoy, Phil, Wesley, Robert, Rother, Kristina I, Rother, Kristina, Hildebrand, Peter W, Brogan, Paul, Krüger, Elke, Aksentijevich, Ivona, Goldbach-Mansky, Raphaela
Published in The Journal of clinical investigation (01.11.2015)
Published in The Journal of clinical investigation (01.11.2015)
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A novel bi‐allelic loss‐of‐function mutation in STIM1 expands the phenotype of STIM1‐related diseases
Salvi, Alexandra, Skrypnyk, Cristina, Da Silva, Nathalie, Urtizberea, Jon Andoni, Bakhiet, Moiz, Robert, Catherine, Lévy, Nicolas, Megarbané, André, Delague, Valérie, Bartoli, Marc
Published in Clinical genetics (01.07.2021)
Published in Clinical genetics (01.07.2021)
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Altered action potential waveform and shorter axonal initial segment in hiPSC-derived motor neurons with mutations in VRK1
Bos, Rémi, Rihan, Khalil, Quintana, Patrice, El-Bazzal, Lara, Bernard-Marissal, Nathalie, Da Silva, Nathalie, Jabbour, Rosette, Mégarbané, André, Bartoli, Marc, Brocard, Frédéric, Delague, Valérie
Published in Neurobiology of disease (01.03.2022)
Published in Neurobiology of disease (01.03.2022)
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Homozygous microdeletion of the ERI1 and MFHAS1 genes in a patient with intellectual disability, limb abnormalities, and cardiac malformation
Choucair, Nancy, Rajab, Mariam, Mégarbané, André, Chouery, Eliane
Published in American journal of medical genetics. Part A (01.07.2017)
Published in American journal of medical genetics. Part A (01.07.2017)
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Genetic predisposition to porto-sinusoidal vascular disorder: A functional genomic-based, multigenerational family study
Shan, Jingxuan, Megarbane, André, Chouchane, Aziz, Karthik, Deepak, Temanni, Ramzi, Romero, Atilio Reyes, Hua, Huiying, Pan, Chun, Chen, Xixi, Subramanian, Murugan, Saad, Chadi, Mbarek, Hamdi, Mehawej, Cybel, Chouery, Eliane, Abuaqel, Sirin W, Dömling, Alexander, Remadi, Sami, Yaghi, Cesar, Li, Pu, Chouchane, Lotfi
Published in Hepatology (Baltimore, Md.) (01.02.2023)
Published in Hepatology (Baltimore, Md.) (01.02.2023)
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Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome
Alby, Caroline, Piquand, Kevin, Huber, Céline, Megarbané, André, Ichkou, Amale, Legendre, Marine, Pelluard, Fanny, Encha-Ravazi, Ferechté, Abi-Tayeh, Georges, Bessières, Bettina, El Chehadeh-Djebbar, Salima, Laurent, Nicole, Faivre, Laurence, Sztriha, László, Zombor, Melinda, Szabó, Hajnalka, Failler, Marion, Garfa-Traore, Meriem, Bole, Christine, Nitschké, Patrick, Nizon, Mathilde, Elkhartoufi, Nadia, Clerget-Darpoux, Françoise, Munnich, Arnold, Lyonnet, Stanislas, Vekemans, Michel, Saunier, Sophie, Cormier-Daire, Valérie, Attié-Bitach, Tania, Thomas, Sophie
Published in American journal of human genetics (06.08.2015)
Published in American journal of human genetics (06.08.2015)
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Mutation in WNT10A Is Associated with an Autosomal Recessive Ectodermal Dysplasia: The Odonto-onycho-dermal Dysplasia
Adaimy, Lynn, Chouery, Eliane, Mégarbané, Hala, Mroueh, Salman, Delague, Valérie, Nicolas, Elsa, Belguith, Hanen, de Mazancourt, Philippe, Mégarbané, André
Published in American journal of human genetics (01.10.2007)
Published in American journal of human genetics (01.10.2007)
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A multicenter retrospective study of charcot‐marie‐tooth disease type 4B (CMT4B) associated with mutations in myotubularin‐related proteins (MTMRs)
Pareyson, Davide, Stojkovic, Tanya, Reilly, Mary M., Leonard‐Louis, Sarah, Laurà, Matilde, Blake, Julian, Parman, Yesim, Battaloglu, Esra, Tazir, Meriem, Bellatache, Mounia, Bonello‐Palot, Nathalie, Lévy, Nicolas, Sacconi, Sabrina, Guimarães‐Costa, Raquel, Attarian, Sharham, Latour, Philippe, Solé, Guilhem, Megarbane, André, Horvath, Rita, Ricci, Giulia, Choi, Byung‐Ok, Schenone, Angelo, Gemelli, Chiara, Geroldi, Alessandro, Sabatelli, Mario, Luigetti, Marco, Santoro, Lucio, Manganelli, Fiore, Quattrone, Aldo, Valentino, Paola, Murakami, Tatsufumi, Scherer, Steven S., Dankwa, Lois, Shy, Michael E., Bacon, Chelsea J., Herrmann, David N., Zambon, Alberto, Tramacere, Irene, Pisciotta, Chiara, Magri, Stefania, Previtali, Stefano C., Bolino, Alessandra
Published in Annals of neurology (01.07.2019)
Published in Annals of neurology (01.07.2019)
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