Nosology and classification of genetic skeletal disorders: 2010 revision von Warman, Matthew L., Cormier-Daire, Valerie, Hall, Christine, Krakow, Deborah, Lachman, Ralph, LeMerrer, Martine, Mortier, Geert, Mundlos, Stefan, Nishimura, Gen, Rimoin, David L., Robertson, Stephen, Savarirayan, Ravi, Sillence, David, Spranger, Juergen, Unger, Sheila, Zabel, Bernhard, Superti-Furga, Andrea

Volltext

A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva von LeMerrer, Martine, Zasloff, Michael, Morhart, Rolf, Kaplan, Frederick S, Cho, Tae-Joon, Choi, In Ho, Glaser, David L, Connor, J Michael, Smith, Roger, Triffitt, James T, Shore, Eileen M, Urtizberea, J Andoni, Feldman, George J, Xu, Meiqi, Delai, Patricia, Rogers, John G, Fenstermacher, David A, Brown, Matthew A

Volltext

Connective tissue nevi: An entity revisited von Saussine, Anne, MD, Marrou, Karine, MD, Delanoé, Phillippe, MD, Bodak, Nathalie, MD, Hamel, Dominique, MD, Picard, Arnaud, MD, Sassolas, Bruno, MD, de Prost, Yves, MD, PhD, Lemerrer, Martine, MD, Fraitag, Sylvie, MD, Bodemer, Christine, MD, PhD

Volltext

Defective chondrocyte proliferation and differentiation in osteochondromas of MHE patients von Benoist-Lasselin, Catherine, de Margerie, Emmanuel, Gibbs, Linda, Cormier, Sarah, Silve, Caroline, Nicolas, Gisèle, LeMerrer, Martine, Mallet, Jean-Francois, Munnich, Arnold, Bonaventure, Jacky, Zylberberg, Louise, Legeai-Mallet, Laurence

Volltext

Fibrodysplasia Ossificans Progressiva, a Heritable Disorder of Severe Heterotopic Ossification, Maps to Human Chromosome 4q27-31 von Feldman, George, Li, Ming, Martin, Shelden, Urbanek, Margrit, Urtizberea, J. Andoni, Fardeau, Michel, LeMerrer, Martine, Connor, J. Michael, Triffitt, James, Smith, Roger, Muenke, Maximilian, Kaplan, Frederick S., Shore, Eileen M.

Volltext

Nosology and classification of genetic skeletal disorders: 2006 revision von Superti-Furga, Andrea, Unger, Sheila

Volltext

Toriello-Carey syndrome: Delineation and review von Toriello, Helga V., Carey, John C., Addor, Marie-Claude, Allen, William, Burke, Leah, Chun, Nicole, Dobyns, William, Elias, Ellen, Gallagher, Renata, Hordijk, Roel, Hoyme, Gene, Irons, Mira, Jewett, Tamison, LeMerrer, Martine, Lubinsky, Mark, Martin, Rick, McDonald-McGinn, Donna, Neumann, Luitgard, Newman, William, Pauli, Richard, Seaver, Laurie, Tsai, Anna, Wargowsky, David, Williams, Marc, Zackai, Elaine

Volltext

Truncated prelamin A expression in HGPS-like patients: a transcriptional study von Barthélémy, Florian, Navarro, Claire, Fayek, Racha, Da Silva, Nathalie, Roll, Patrice, Sigaudy, Sabine, Oshima, Junko, Bonne, Gisèle, Papadopoulou-Legbelou, Kyriaki, Evangeliou, Athanasios E, Spilioti, Martha, Lemerrer, Martine, Wevers, Ron A, Morava, Eva, Robaglia-Schlupp, Andrée, Lévy, Nicolas, Bartoli, Marc, De Sandre-Giovannoli, Annachiara

Volltext

Lung function, diagnosis, and treatment of sleep‐disordered breathing in children with achondroplasia von Julliand, Sébastien, Boulé, Michèle, Baujat, Geneviève, Ramirez, Adriana, Couloigner, Vincent, Beydon, Nicole, Zerah, Michel, di Rocco, Federico, Lemerrer, Martine, Cormier‐Daire, Valérie, Fauroux, Brigitte

Volltext

Oral manifestations of patients with Kenny–Caffey Syndrome von Moussaid, Youssra, Griffiths, Didier, Richard, Béatrice, Dieux, Anne, Lemerrer, Martine, Léger, Juliane, Lacombe, Didier, Bailleul-Forestier, Isabelle

Volltext

Truncated prelamin A expression in HGPS-like patients: a transcriptional study von Barthelemy, Florian, Navarro, Claire, Fayek, Racha, Da Silva, Nathalie, Roll, Patrice, Sigaudy, Sabine, Oshima, Junko, Bonne, Gisele, Papadopoulou-Legbelou, Kyriaki, Evangeliou, Athanasios E, Spilioti, Martha, Lemerrer, Martine, Wevers, Ron A, Morava, Eva, Robaglia-Schlupp, Andree, Levy, Nicolas, Bartoli, Marc, De Sandre-Giovannoli, Annachiara

Volltext

Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: Clinical and radiographic delineation of a pleiotropic disorder von Renella, Raffaele, Schaefer, Elke, LeMerrer, Martine, Alanay, Yasemin, Kandemir, Nurgun, Eich, Georg, Costa, Teresa, Ballhausen, Diana, Boltshauser, Eugen, Bonafé, Luisa, Giedion, Andres, Unger, Sheila, Superti-Furga, Andrea

Volltext

Erratum to: Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients von Hoornaert, Kristien P, Vereecke, Inge, Dewinter, Chantal, Rosenberg, Thomas, Beemer, Frits A, Leroy, Jules G, Bendix, Laila, Björck, Erik, Bonduelle, Maryse, Boute, Odile, Cormier-Daire, Valerie, De Die-Smulders, Christine, Dieux-Coeslier, Anne, Dollfus, Hélène, Elting, Mariet, Green, Andrew, Guerci, Veronica I, Hennekam, Raoul CM, Hilhorts-Hofstee, Yvonne, Holder, Muriel, Hoyng, Carel, Jones, Kristi J, Josifova, Dragana, Kaitila, Ilkka, Kjaergaard, Suzanne, Kroes, Yolande H, Lagerstedt, Kristina, Lees, Melissa, LeMerrer, Martine, Magnani, Cinzia, Marcelis, Carlo, Martorell, Loreto, Mathieu, Michèle, McEntagart, Meriel, Mendicino, Angela, Morton, Jenny, Orazio, Gabrielli, Paquis, Véronique, Reish, Orit, Simola, Kalle OJ, Smithson, Sarah F, Temple, Karen I, Van Aken, Elisabeth, Van Bever, Yolande, van den Ende, Jenneke, Van Hagen, Johanna M, Zelante, Leopoldo, Zordania, Riina, De Paepe, Anne, Leroy, Bart P, De Buyzere, Marc, Coucke, Paul J, Mortier, Geert R

Volltext

Meckel-Gruber syndrome: Prenatal diagnosis at 10 menstrual weeks using embryoscopy von Dumez, Yves, Dommergues, Marc, Gubler, Marie-Claire, Bunduki, Victor, Narcy, Francoise, Lemerrer, Martine, Mandelbrot, Laurent, Berkowitz, Richard

Volltext

Lung function, diagnosis, and treatment of sleep-disordered breathing in children with achondroplasia von Julliand, Sébastien, Boulé, Michèle, Baujat, Geneviève, Ramirez, Adriana, Couloigner, Vincent, Beydon, Nicole, Zerah, Michel, di Rocco, Federico, Lemerrer, Martine, Cormier-Daire, Valérie, Fauroux, Brigitte

Volltext

Mutations of the TWIST gene in the Saethre-Chotzen syndrome von EL GHOUZZI, V, LE MERRER, M, PERRIN-SCHMITT, F, LAJEUNIE, E, BENIT, P, RENIER, D, BOURGEOIS, P, BOLCATO-BELLEMIN, A.-L, MUNNICH, A, BONAVENTURE, J

Volltext

Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia von Rousseau, Francis, Bonaventure, Jacky, Legeai-Mallet, Laurence, Pelet, Anna, Rozet, Jean-Michel, Maroteaux, Pierre, Merrer, Martine Le, Munnich, Arnold

Volltext

Clustering of Mutations Responsible for Branchio-Oto-Renal (BOR) Syndrome in the Eyes Absent Homologous Region (eyaHR) of EYA1 von Abdelhak, Sonia, Kalatzis, Vasiliki, Heilig, Roland, Compain, Sylvie, Samson, Delphine, Vincent, Christophe, Levi-Acobas, Fabienne, Cruaud, Corinne, Le Merrer, Martine, Mathieu, Michèle, König, Rainer, Vigneron, Jacqueline, Weissenbach, Jean, Petit, Christine, Weil, Dominique

Volltext

X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus von Munnich, Arnold, Gil, Roger, Boespflug-Tanguy, Odile, Rozet, Jean-Michel, Bonneau, Dominique, Saugier-Veber, Pascale, Le Merrer, Martine

Volltext

Congenital lumbosacral lipomas von Pierre-Kahn, A, Zerah, M, Renier, D, Cinalli, G, Sainte-Rose, C, Lellouch-Tubiana, A, Brunelle, F, Le Merrer, M, Giudicelli, Y, Pichon, J, Kleinknecht, B, Nataf, F

Volltext