Nosology and classification of genetic skeletal disorders: 2010 revision
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
Published in American journal of medical genetics. Part A (01.05.2011)
Published in American journal of medical genetics. Part A (01.05.2011)
Get full text
Journal Article
A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva
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
Published in Nature genetics (01.05.2006)
Published in Nature genetics (01.05.2006)
Get full text
Journal Article
Connective tissue nevi: An entity revisited
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
Published in Journal of the American Academy of Dermatology (01.08.2012)
Published in Journal of the American Academy of Dermatology (01.08.2012)
Get full text
Journal Article
Defective chondrocyte proliferation and differentiation in osteochondromas of MHE patients
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
Published in Bone (New York, N.Y.) (01.07.2006)
Published in Bone (New York, N.Y.) (01.07.2006)
Get full text
Journal Article
Fibrodysplasia Ossificans Progressiva, a Heritable Disorder of Severe Heterotopic Ossification, Maps to Human Chromosome 4q27-31
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.
Published in American journal of human genetics (01.01.2000)
Published in American journal of human genetics (01.01.2000)
Get full text
Journal Article
Toriello-Carey syndrome: Delineation and review
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
Published in American journal of medical genetics. Part A (15.11.2003)
Published in American journal of medical genetics. Part A (15.11.2003)
Get full text
Journal Article
Nosology and classification of genetic skeletal disorders: 2006 revision
Superti-Furga, Andrea, Unger, Sheila
Published in American journal of medical genetics. Part A (01.01.2007)
Published in American journal of medical genetics. Part A (01.01.2007)
Get full text
Journal Article
Truncated prelamin A expression in HGPS-like patients: a transcriptional study
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
Published in European journal of human genetics : EJHG (01.08.2015)
Published in European journal of human genetics : EJHG (01.08.2015)
Get full text
Journal Article
Lung function, diagnosis, and treatment of sleep‐disordered breathing in children with achondroplasia
Julliand, Sébastien, Boulé, Michèle, Baujat, Geneviève, Ramirez, Adriana, Couloigner, Vincent, Beydon, Nicole, Zerah, Michel, di Rocco, Federico, Lemerrer, Martine, Cormier‐Daire, Valérie, Fauroux, Brigitte
Published in American journal of medical genetics. Part A (01.08.2012)
Published in American journal of medical genetics. Part A (01.08.2012)
Get full text
Journal Article
Oral manifestations of patients with Kenny–Caffey Syndrome
Moussaid, Youssra, Griffiths, Didier, Richard, Béatrice, Dieux, Anne, Lemerrer, Martine, Léger, Juliane, Lacombe, Didier, Bailleul-Forestier, Isabelle
Published in European journal of medical genetics (01.08.2012)
Published in European journal of medical genetics (01.08.2012)
Get full text
Journal Article
Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: Clinical and radiographic delineation of a pleiotropic disorder
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
Published in American journal of medical genetics. Part A (15.03.2006)
Published in American journal of medical genetics. Part A (15.03.2006)
Get full text
Journal Article
Erratum to: Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients
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
Published in European journal of human genetics : EJHG (22.07.2010)
Published in European journal of human genetics : EJHG (22.07.2010)
Get full text
Journal Article
Meckel-Gruber syndrome: prenatal diagnosis at 10 menstrual weeks using embryoscopy
Dumez, Y, Dommergues, M, Gubler, M C, Bunduki, V, Narcy, F, LeMerrer, M, Mandelbrot, L, Berkowitz, R
Published in Prenatal diagnosis (01.02.1994)
Published in Prenatal diagnosis (01.02.1994)
Get more information
Journal Article
Lung function, diagnosis, and treatment of sleep-disordered breathing in children with achondroplasia
Julliand, Sébastien, Boulé, Michèle, Baujat, Geneviève, Ramirez, Adriana, Couloigner, Vincent, Beydon, Nicole, Zerah, Michel, di Rocco, Federico, Lemerrer, Martine, Cormier-Daire, Valérie, Fauroux, Brigitte
Published in American Journal of Medical Genetics Part A (01.08.2012)
Published in American Journal of Medical Genetics Part A (01.08.2012)
Get full text
Report
Recommendations for the medical management of aortic complications of Marfan's syndrome
Jondeau, Guillaume, Barthelet, Martine, Baumann, Clarisse, Bonnet, Damien, Chevallier, Bertrand, Collignon, Patrick, Dulac, Yves, Edouard, Thomas, Faivre, Laurence, Germain, Dominique, Khau Van Kien, Philipe, Lacombe, Didier, Ladouceur, Magalie, Lemerrer, Martine, Leheup, Bruno, Lupoglazoff, Jean-Marc, Magnier, Suzel, Muti, Christine, Plauchu, Pr Henri, Raffestin, Bernadette, Sassolas, F, Schleich, Jean-Marc, Sidi, Daniel, Themar-Noël, Christine, Varin, Jean, Wolf, Jean-Eric
Published in Archives des maladies du coeur et des vaisseaux (01.05.2006)
Get more information
Published in Archives des maladies du coeur et des vaisseaux (01.05.2006)
Journal Article