Search Results - "Megarbané, André"

Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations by Nishimura, Gen, Dai, Jin, Lausch, Ekkehart, Unger, Sheila, Megarbané, André, Kitoh, Hiroshi, Kim, Ok Hwa, Cho, Tae-Joon, Bedeschi, Francesca, Benedicenti, Francesco, Mendoza-Londono, Roberto, Silengo, Margherita, Schmidt-Rimpler, Maren, Spranger, Jurgen, Zabel, Bernhard, Ikegawa, Shiro, Superti-Furga, Andrea

“…Recent discoveries have established the existence of a family of skeletal dysplasias caused by dominant mutations in TRPV4. This family comprises, in order of…”
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Two novel missense mutations in FGD4/FRABIN cause Charcot-Marie-Tooth type 4H (CMT4H) by Baudot, Cécile, Esteve, Clothilde, Castro, Christel, Poitelon, Yannick, Mas, Camille, Hamadouche, Tarik, El-Rajab, Maryam, Lévy, Nicolas, Megarbané, André, Delague, Valérie

“…By sequencing of the FGD4 coding sequence in a cohort of 101 patients affected by autosomal recessive demyelinating Charcot‐Marie‐Tooth disease (CMT), we have…”
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Loss of Calmodulin- and Radial-Spoke-Associated Complex Protein CFAP251 Leads to Immotile Spermatozoa Lacking Mitochondria and Infertility in Men by Auguste, Yasmina, Delague, Valérie, Desvignes, Jean-Pierre, Longepied, Guy, Gnisci, Audrey, Besnier, Pierre, Levy, Nicolas, Beroud, Christophe, Megarbane, André, Metzler-Guillemain, Catherine, Mitchell, Michael J.

“…Flagella and motile cilia share a 9 + 2 microtubule-doublet axoneme structure, and asthenozoospermia (reduced spermatozoa motility) is found in 76% of men with…”
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Vibratory Urticaria Associated with a Missense Variant in ADGRE2 by 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

“…A variant in ADGRE2, encoding an adhesion G-protein–coupled receptor, is associated with vibratory urticaria. The variant probably causes disease; if so, it is…”
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Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias by Le Goff, Carine, Mahaut, Clémentine, Wang, Lauren W., Allali, Slimane, Abhyankar, Avinash, Jensen, Sacha, Zylberberg, Louise, Collod-Beroud, Gwenaelle, Bonnet, Damien, Alanay, Yasemin, Brady, Angela F., Cordier, Marie-Pierre, Devriendt, Koen, Genevieve, David, Kiper, Pelin Özlem Simsek, Kitoh, Hiroshi, Krakow, Deborah, Lynch, Sally Ann, Le Merrer, Martine, Mégarbane, André, Mortier, Geert, Odent, Sylvie, Polak, Michel, Rohrbach, Marianne, Sillence, David, Stolte-Dijkstra, Irene, Superti-Furga, Andrea, Rimoin, David L., Topouchian, Vicken, Unger, Sheila, Zabel, Bernhard, Bole-Feysot, Christine, Nitschke, Patrick, Handford, Penny, Casanova, Jean-Laurent, Boileau, Catherine, Apte, Suneel S., Munnich, Arnold, Cormier-Daire, Valérie

“…Geleophysic (GD) and acromicric dysplasia (AD) belong to the acromelic dysplasia group and are both characterized by severe short stature, short extremities,…”
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Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome by Mégarbané, Hala, Mégarbané, André

“…The IFAP syndrome is a rare X-linked genetic disorder reported in nearly 40 patients. It is characterized by the triad of Ichthyosis Follicularis, Alopecia,…”
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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 by 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

“…Background: People with trisomy 21 (T21) are predisposed to developing hematological tumors, but have significantly lower-than-expected age-adjusted incidence…”
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Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism by Rauch, Anita, Thiel, Christian T, Schindler, Detlev, Wick, Ursula, Crow, Yanick J, Ekici, Arif B, van Essen, Anthonie J, Goecke, Timm O, Al-Gazali, Lihadh, Chrzanowska, Krystyna H, Zweier, Christiane, Brunner, Han G, Becker, Kristin, Curry, Cynthia J, Dallapiccola, Bruno, Devriendt, Koenraad, Dörfler, Arnd, Kinning, Esther, Megarbane, André, Meinecke, Peter, Semple, Robert K, Spranger, Stephanie, Toutain, Annick, Trembath, Richard C, Voss, Egbert, Wilson, Louise, Hennekam, Raoul, de Zegher, Francis, Dörr, Helmuth-Günther, Reis, André

“…Fundamental processes influencing human growth can be revealed by studying extreme short stature. Using genetic linkage analysis, we find that biallelic…”
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Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy by Bernard, Geneviève, Chouery, Eliane, Putorti, Maria Lisa, Tétreault, Martine, Takanohashi, Asako, Carosso, Giovanni, Clément, Isabelle, Boespflug-Tanguy, Odile, Rodriguez, Diana, Delague, Valérie, Abou Ghoch, Joelle, Jalkh, Nadine, Dorboz, Imen, Fribourg, Sebastien, Teichmann, Martin, Megarbane, André, Schiffmann, Raphael, Vanderver, Adeline, Brais, Bernard

“…Leukodystrophies are a heterogeneous group of inherited neurodegenerative disorders characterized by abnormal white matter visible by brain imaging. It is…”
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Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes by 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

“…Oral-facial-digital syndromes (OFDS) gather rare genetic disorders characterised by facial, oral and digital abnormalities associated with a wide range of…”
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Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families by 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.

“…ABSTRACT Rare, atypical, and undiagnosed autosomal‐recessive disorders frequently occur in the offspring of consanguineous couples. Current routine diagnostic…”
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Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3 by Lefèvre, Caroline, Bouadjar, Bakar, Ferrand, Véronique, Tadini, Gianluca, Mégarbané, André, Lathrop, Mark, Prud'homme, Jean-François, Fischer, Judith

“…We report the identification of mutations in a non-syndromic autosomal recessive congenital ichthyosis (ARCI) in a new gene mapping within a previously…”
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Mutations in FGD4 Encoding the Rho GDP/GTP Exchange Factor FRABIN Cause Autosomal Recessive Charcot-Marie-Tooth Type 4H by 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

“…Charcot-Marie-Tooth (CMT) disorders are a clinically and genetically heterogeneous group of hereditary motor and sensory neuropathies characterized by muscle…”
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Altered action potential waveform and shorter axonal initial segment in hiPSC-derived motor neurons with mutations in VRK1 by 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

“…We recently described new pathogenic variants in VRK1, in patients affected with distal Hereditary Motor Neuropathy associated with upper motor neurons signs…”
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10q26.1 Microdeletion: Redefining the critical regions for microcephaly and genital anomalies by Choucair, Nancy, Abou Ghoch, Joelle, Fawaz, Ali, Mégarbané, André, Chouery, Eliane

“…Distal 10q deletion syndrome is a well‐characterized chromosomal disorder consisting of neurodevelopmental impairment, facial dysmorphism, cardiac…”
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A multicenter retrospective study of charcot‐marie‐tooth disease type 4B (CMT4B) associated with mutations in myotubularin‐related proteins (MTMRs) by 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

“…Objective Charcot‐Marie‐Tooth (CMT) disease 4B1 and 4B2 (CMT4B1/B2) are characterized by recessive inheritance, early onset, severe course, slowed nerve…”
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Mutations in ASPH Cause Facial Dysmorphism, Lens Dislocation, Anterior-Segment Abnormalities, and Spontaneous Filtering Blebs, or Traboulsi Syndrome by Patel, Nisha, Khan, Arif O., Mansour, Ahmad, Mohamed, Jawahir Y., Al-Assiri, Abdullah, Haddad, Randa, Jia, Xiaofei, Xiong, Yong, Mégarbané, André, Traboulsi, Elias I., Alkuraya, Fowzan S.

“…We have previously described a syndrome characterized by facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs…”
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The 50th anniversary of the discovery of trisomy 21: The past, present, and future of research and treatment of Down syndrome by Mégarbané, André, Ravel, Aimé, Mircher, Clotilde, Sturtz, Franck, Grattau, Yann, Rethoré, Marie-Odile, Delabar, Jean-Maurice, Mobley, William C

“…Trisomy 21 or Down syndrome is a chromosomal disorder resulting from the presence of all or part of an extra Chromosome 21. It is a common birth defect, the…”
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Imbalance of NRG1-ERBB2/3 signalling underlies altered myelination in Charcot–Marie–Tooth disease 4H by El-Bazzal, Lara, Ghata, Adeline, Estève, Clothilde, Gadacha, Jihane, Quintana, Patrice, Castro, Christel, Roeckel-Trévisiol, Nathalie, Lembo, Frédérique, Lenfant, Nicolas, Mégarbané, André, Borg, Jean-Paul, Lévy, Nicolas, Bartoli, Marc, Poitelon, Yannick, Roubertoux, Pierre L, Delague, Valérie, Bernard-Marissal, Nathalie

“…Abstract Charcot–Marie–Tooth (CMT) disease is one of the most common inherited neurological disorders, affecting either axons from the motor and/or sensory…”
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A Novel Alpha Cardiac Actin (ACTC1) Mutation Mapping to a Domain in Close Contact with Myosin Heavy Chain Leads to a Variety of Congenital Heart Defects, Arrhythmia and Possibly Midline Defects by Augière, Céline, Mégy, Simon, El Malti, Rajae, Boland, Anne, El Zein, Loubna, Verrier, Bernard, Mégarbané, André, Deleuze, Jean-François, Bouvagnet, Patrice

“…A Lebanese Maronite family presented with 13 relatives affected by various congenital heart defects (mainly atrial septal defects), conduction tissue anomalies…”
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