Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias von 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

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Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome von 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

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Infantile Cortical Hyperostosis (Caffey Disease): A Review von Kamoun-Goldrat, Agnès, DDS, le Merrer, Martine, MD, PhD

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Paradoxical NSD1 Mutations in Beckwith-Wiedemann Syndrome and 11p15 Anomalies in Sotos Syndrome von Baujat, Geneviève, Rio, Marlène, Rossignol, Sylvie, Sanlaville, Damien, Lyonnet, Stanislas, Le Merrer, Martine, Munnich, Arnold, Gicquel, Christine, Cormier-Daire, Valérie, Colleaux, Laurence

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PIK3R1 Mutations Cause Syndromic Insulin Resistance with Lipoatrophy von Thauvin-Robinet, Christel, Auclair, Martine, Duplomb, Laurence, Caron-Debarle, Martine, Avila, Magali, St-Onge, Judith, Le Merrer, Martine, Le Luyer, Bernard, Héron, Delphine, Mathieu-Dramard, Michèle, Bitoun, Pierre, Petit, Jean-Michel, Odent, Sylvie, Amiel, Jeanne, Picot, Damien, Carmignac, Virginie, Thevenon, Julien, Callier, Patrick, Laville, Martine, Reznik, Yves, Fagour, Cédric, Nunes, Marie-Laure, Capeau, Jacqueline, Lascols, Olivier, Huet, Frédéric, Faivre, Laurence, Vigouroux, Corinne, Rivière, Jean-Baptiste

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Null Leukemia Inhibitory Factor Receptor ( LIFR) Mutations in Stüve-Wiedemann/Schwartz-Jampel Type 2 Syndrome von Dagoneau, Nathalie, Scheffer, Deborah, Huber, Céline, Al-Gazali, Lihadh I., Di Rocco, Maja, Godard, Anne, Martinovic, Jelena, Raas-Rothschild, Annick, Sigaudy, Sabine, Unger, Sheila, Nicole, Sophie, Fontaine, Bertrand, Taupin, Jean-Luc, Moreau, Jean-François, Superti-Furga, Andrea, Le Merrer, Martine, Bonaventure, Jacky, Munnich, Arnold, Legeai-Mallet, Laurence, Cormier-Daire, Valérie

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Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Can Be Caused by Mutations in Either ENPP1 or ABCC6 von Nitschke, Yvonne, Baujat, Geneviève, Botschen, Ulrike, Wittkampf, Tanja, du Moulin, Marcel, Stella, Jacqueline, Le Merrer, Martine, Guest, Geneviève, Lambot, Karen, Tazarourte-Pinturier, Marie-Frederique, Chassaing, Nicolas, Roche, Olivier, Feenstra, Ilse, Loechner, Karen, Deshpande, Charu, Garber, Samuel J., Chikarmane, Rashmi, Steinmann, Beat, Shahinyan, Tatevik, Martorell, Loreto, Davies, Justin, Smith, Wendy E., Kahler, Stephen G., McCulloch, Mignon, Wraige, Elizabeth, Loidi, Lourdes, Höhne, Wolfgang, Martin, Ludovic, Hadj-Rabia, Smaïl, Terkeltaub, Robert, Rutsch, Frank

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Ellis-van Creveld syndrome von Baujat, Geneviève, Le Merrer, Martine

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Exome Sequencing Identifies PDE4D Mutations as Another Cause of Acrodysostosis von Michot, Caroline, Le Goff, Carine, Goldenberg, Alice, Abhyankar, Avinash, Klein, Céline, Kinning, Esther, Guerrot, Anne-Marie, Flahaut, Philippe, Duncombe, Alice, Baujat, Genevieve, Lyonnet, Stanislas, Thalassinos, Caroline, Nitschke, Patrick, Casanova, Jean-Laurent, Le Merrer, Martine, Munnich, Arnold, Cormier-Daire, Valérie

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Congenital Dyserythropoietic Anemia Type I Is Caused by Mutations in Codanin-1 von Dgany, Orly, Avidan, Nili, Delaunay, Jean, Krasnov, Tatyana, Shalmon, Lea, Shalev, Hanna, Eidelitz-Markus, Tal, Kapelushnik, Joseph, Cattan, Daniel, Pariente, Alexandre, Tulliez, Michel, Crétien, Aurore, Schischmanoff, Pierre-Olivier, Iolascon, Achille, Fibach, Eithan, Koren, Ariel, Rössler, Jochen, Le Merrer, Martine, Yaniv, Isaac, Zaizov, Rina, Ben-Asher, Edna, Olender, Tsvyia, Lancet, Doron, Beckmann, Jacques S., Tamary, Hannah

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Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases von Cluzeau, Céline, Hadj-Rabia, Smail, Jambou, Marguerite, Mansour, Sourour, Guigue, Philippe, Masmoudi, Sahben, Bal, Elodie, Chassaing, Nicolas, Vincent, Marie-Claire, Viot, Géraldine, Clauss, François, Manière, Marie-Cécile, Toupenay, Steve, Le Merrer, Martine, Lyonnet, Stanislas, Cormier-Daire, Valérie, Amiel, Jeanne, Faivre, Laurence, de Prost, Yves, Munnich, Arnold, Bonnefont, Jean-Paul, Bodemer, Christine, Smahi, Asma

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Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations von Perrault, Isabelle, Saunier, Sophie, Hanein, Sylvain, Filhol, Emilie, Bizet, Albane A., Collins, Felicity, Salih, Mustafa A.M., Gerber, Sylvie, Delphin, Nathalie, Bigot, Karine, Orssaud, Christophe, Silva, Eduardo, Baudouin, Véronique, Oud, Machteld M., Shannon, Nora, Le Merrer, Martine, Roche, Olivier, Pietrement, Christine, Goumid, Jamal, Baumann, Clarisse, Bole-Feysot, Christine, Nitschke, Patrick, Zahrate, Mohammed, Beales, Philip, Arts, Heleen H., Munnich, Arnold, Kaplan, Josseline, Antignac, Corinne, Cormier-Daire, Valérie, Rozet, Jean-Michel

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DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III von Dagoneau, Nathalie, Goulet, Marie, Geneviève, David, Sznajer, Yves, Martinovic, Jelena, Smithson, Sarah, Huber, Céline, Baujat, Geneviève, Flori, Elisabeth, Tecco, Laura, Cavalcanti, Denise, Delezoide, Anne-Lise, Serre, Valérie, Le Merrer, Martine, Munnich, Arnold, Cormier-Daire, Valérie

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Cantú Syndrome Is Caused by Mutations in ABCC9 von van Bon, Bregje W.M., Gilissen, Christian, Grange, Dorothy K., Hennekam, Raoul C.M., Kayserili, Hülya, Engels, Hartmut, Reutter, Heiko, Ostergaard, John R., Morava, Eva, Tsiakas, Konstantinos, Isidor, Bertrand, Le Merrer, Martine, Eser, Metin, Wieskamp, Nienke, de Vries, Petra, Steehouwer, Marloes, Veltman, Joris A., Robertson, Stephen P., Brunner, Han G., de Vries, Bert B.A., Hoischen, Alexander

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Mutations in two regions of FLNB result in atelosteogenesis I and III von Farrington-Rock, Claire, Firestein, Marc H., Bicknell, Louise S., Superti-Furga, Andrea, Bacino, Carlos A., Cormier-Daire, Valerie, Le Merrer, Martine, Baumann, Clarisse, Roume, Joelle, Rump, Patrick, Verheij, Joke B.G.M., Sweeney, Elizabeth, Rimoin, David L., Lachman, Ralph S., Robertson, Stephen P., Cohn, Daniel H., Krakow, Deborah

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Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia von Michot, Caroline, Le Goff, Carine, Blair, Edward, Blanchet, Patricia, Capri, Yline, Gilbert-Dussardier, Brigitte, Goldenberg, Alice, Henderson, Alex, Isidor, Bertrand, Kayserili, Hulya, Kinning, Esther, Le Merrer, Martine, Lyonnet, Stanislas, Odent, Sylvie, Simsek-Kiper, Pelin Ozlem, Quelin, Chloé, Savarirayan, Ravi, Simon, Marleen, Splitt, Miranda, Verhagen, Judith M A, Verloes, Alain, Munnich, Arnold, Baujat, Geneviève, Cormier-Daire, Valérie

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Fibrodysplasia ossificans progressiva von Kaplan, Frederick S., MD, Le Merrer, Martine, MD, PhD, Glaser, David L., MD, Pignolo, Robert J., MD, PhD, Goldsby, Robert E., MD, Kitterman, Joseph A., MD, Groppe, Jay, PhD, Shore, Eileen M., PhD

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C5orf42 is the major gene responsible for OFD syndrome type VI von Lopez, Estelle, Thauvin-Robinet, Christel, Reversade, Bruno, Khartoufi, Nadia El, Devisme, Louise, Holder, Muriel, Ansart-Franquet, Hélène, Avila, Magali, Lacombe, Didier, Kleinfinger, Pascale, Kaori, Irahara, Takanashi, Jun-Ichi, Le Merrer, Martine, Martinovic, Jelena, Noël, Catherine, Shboul, Mohammad, Ho, Lena, Güven, Yeliz, Razavi, Ferechté, Burglen, Lydie, Gigot, Nadège, Darmency-Stamboul, Véronique, Thevenon, Julien, Aral, Bernard, Kayserili, Hülya, Huet, Frédéric, Lyonnet, Stanislas, Le Caignec, Cédric, Franco, Brunella, Rivière, Jean-Baptiste, Faivre, Laurence, Attié-Bitach, Tania

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Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy von Navarro, Claire L., De Sandre-Giovannoli, Annachiara, Bernard, Rafaëlle, Boccaccio, Irène, Boyer, Amandine, Geneviève, David, Hadj-Rabia, Smail, Gaudy-Marqueste, Caroline, Smitt, Henk Sillevis, Vabres, Pierre, Faivre, Laurence, Verloes, Alain, Van Essen, Ton, Flori, Elisabeth, Hennekam, Raoul, Beemer, Frits A., Laurent, Nicole, Le Merrer, Martine, Cau, Pierre, Lévy, Nicolas

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Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families von Baujat, Geneviève, Huber, Céline, El Hokayem, Joyce, Caumes, Roseline, Do Ngoc Thanh, Claire, David, Albert, Delezoide, Anne-Lise, Dieux-Coeslier, Anne, Estournet, Brigitte, Francannet, Christine, Kayirangwa, Honorine, Lacaille, Florence, Le Bourgeois, Muriel, Martinovic, Jelena, Salomon, Rémi, Sigaudy, Sabine, Malan, Valérie, Munnich, Arnold, Le Merrer, Martine, Le Quan Sang, Kim Hanh, Cormier-Daire, Valérie

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