Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Martine LeMerrer"'
Autor:
Martha Spilioti, Eva Morava, Claire Navarro, Nathalie Da Silva, Marc Bartoli, Athanasios Evangeliou, Martine Lemerrer, Sabine Sigaudy, Kyriaki Papadopoulou-Legbelou, Racha Fayek, Patrice Roll, Andrée Robaglia-Schlupp, Florian Barthélémy, Nicolas Lévy, Annachiara De Sandre-Giovannoli, Ron A. Wevers, Gisèle Bonne, Junko Oshima
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2015, 23 (8), pp.1051-1061. ⟨10.1038/ejhg.2014.239⟩
European Journal of Human Genetics, 23, 8, pp. 1051-61
European Journal of Human Genetics, 2015, 23 (8), pp.1051-1061. ⟨10.1038/ejhg.2014.239⟩
European Journal of Human Genetics, 23, 1051-61
European Journal of Human Genetics, Nature Publishing Group, 2015, 23 (8), pp.1051-1061. ⟨10.1038/ejhg.2014.239⟩
European Journal of Human Genetics, 23, 8, pp. 1051-61
European Journal of Human Genetics, 2015, 23 (8), pp.1051-1061. ⟨10.1038/ejhg.2014.239⟩
European Journal of Human Genetics, 23, 1051-61
Contains fulltext : 154354.pdf (Publisher’s version ) (Closed access) Premature aging syndromes are rare genetic disorders mimicking clinical and molecular features of aging. A recently identified group of premature aging syndromes is linked to mut
Autor:
Martine Lemerrer, Sylvie Fraitag, Anne Saussine, Karine Marrou, Christine Bodemer, D. Hamel, Nathalie Bodak, Bruno Sassolas, Phillippe Delanoé, Yves de Prost, Arnaud Picard
Publikováno v:
Journal of the American Academy of Dermatology. 67:233-239
Background Connective tissue nevi (CTN) may be isolated, either sporadic or hereditary, or syndromic as in the Buschke-Ollendorff syndrome. Few publications have addressed the variable clinical and histopathologic expression of these benign hamartoma
Autor:
Martine Lemerrer, Vincent Couloigner, Sébastien Julliand, Adriana Ramirez, Brigitte Fauroux, Federico Di Rocco, Nicole Beydon, Geneviève Baujat, Michel Zerah, Valérie Cormier-Daire, Michèle Boulé
Publikováno v:
American Journal of Medical Genetics Part A. :1987-1993
Children with achondroplasia are at risk of sleep-disordered breathing. The aim of the study was to evaluate lung function and sleep-disordered breathing in children with achondroplasia. An interview, clinical examination, lung function tests with bl
Autor:
Andrea Superti-Furga, Christine Hall, David L. Rimoin, Geert Mortier, Matthew L. Warman, Ralph S. Lachman, Stephen P. Robertson, Ravi Savarirayan, David Sillence, Stefan Mundlos, Gen Nishimura, Bernhard Zabel, Sheila Unger, Martine Lemerrer, J. Spranger, Deborah Krakow, Valérie Cormier-Daire
Publikováno v:
American journal of medical genetics : part A
American Journal of Medical Genetics. Part a
American Journal of Medical Genetics. Part a
Genetic disorders involving the skeletal system arise through disturbances in the complex processes of skeletal development, growth and homeostasis and remain a diagnostic challenge because of their variety. The Nosology and Classification of Genetic
Autor:
Martine LeMerrer, Diana Ballhausen, Georg Eich, Luisa Bonafé, Raffaele Renella, Sheila Unger, Elke Schaefer, Eugen Boltshauser, Teresa Costa, Andrea Superti-Furga, Nurgun Kandemir, A. Giedion, Yasemin Alanay
Publikováno v:
American Journal of Medical Genetics Part A. :541-550
Enchondromas are a feature of several constitutional disorders of bone, and the classification of different nosologic entities is still provisional. Among these disorders, spondyloenchondrodysplasia (SPENCD), as outlined by Schorr et al. [1976], is d
Autor:
Mark S. Lubinsky, Donna M. McDonald-McGinn, Anna Tsai, William Allen, John C. Carey, William B. Dobyns, Renata C. Gallagher, Marc S. Williams, Marie-Claude Addor, Tamison Jewett, Elaine H. Zackai, Roel Hordijk, William G. Newman, Leah W. Burke, Martine LeMerrer, Richard M. Pauli, Rick A. Martin, Nicole Chun, David Wargowsky, Laurie H. Seaver, Gene Hoyme, Mira Irons, Luitgard M. Neumann, Helga V. Toriello, Ellen R. Elias
Publikováno v:
Scopus-Elsevier
American Journal of Medical Genetics. Part A, 123A(1), 84-90. Wiley
American Journal of Medical Genetics. Part A, 123A(1), 84-90. Wiley
Toriello and Carey [1988: Am J Med Genet 31:17-23] first described a syndrome with component manifestations of corpus callosum agenesis, unusual facial appearance, Robin sequence, and other anomalies. This was termed the Toriello-Carey syndrome by La
Autor:
Martine Lemerrer, P. Khau van Kien, Pierre Maroteaux, Valérie Cormier-Daire, C. Robinet, Arnold Munnich, Laurence Faivre, Annie Nivelon-Chevallier, Marie-Laure Kottler, B. Lorcerie
Publikováno v:
American Journal of Medical Genetics. 99:132-136
Mazabraud syndrome is a rare sporadic disorder, mainly characterized by bone fibrous dysplasia and intramuscular myxomas. We report here two new cases of Mazabraud syndrome. One of our patients (Patient 1) also had café-au-lait spots and multinodula
Autor:
Marie-Claire Gubler, Richard L. Berkowitz, Laurent Mandelbrot, Marc Dommergues, Françoise Narcy, Yves Dumez, Victor Bunduki, Martine Lemerrer
Publikováno v:
Prenatal Diagnosis. 14:141-144
A case of Meckel-Gruber syndrome was diagnosed by embryoscopy at 10 menstrual weeks, allowing for early termination of pregnancy. Post-mortem examination confirmed the presence of polydactyly and bilateral cystic lesions of the mesonephros and metane
Autor:
Anne Dieux, Didier Griffiths, Juliane Leger, Béatrice Richard, Martine Lemerrer, Isabelle Bailleul-Forestier, Youssra Moussaid, Didier Lacombe
Publikováno v:
European journal of medical genetics. 55(8-9)
Kenny–Caffey syndrome (KCS) is a rare osteosclerotic bone dysplasia characterized by hypocalcemia, short stature, ophthalmological features, and teeth anomalies. The TBCE gene coding for a tubulin-specific chaperone E, is located at chromosome 1q42
Autor:
Kristien Hoornaert, Maryse Bonduelle, Frits A. Beemer, Kristi J. Jones, Jenneke van den Ende, Orit Reish, Carlo Marcelis, S. Kjaergaard, Gabrielli Orazio, Kristina Lagerstedt, Bart P. Leroy, Hélène Dollfus, Odile Boute, Anne De Paepe, Yolande H. Kroes, Véronique Paquis, Johanna M. van Hagen, Sarah F. Smithson, Kalle O. J. Simola, Chantal Dewinter, Martine Lemerrer, Raoul C.M. Hennekam, Yolande van Bever, Michèle Mathieu, Erik Björck, Muriel Holder, Laila Bendix, Christine E. M. de Die-Smulders, Leopoldo Zelante, Mariet W. Elting, Carel B. Hoyng, Angela Mendicino, Inge Vereecke, Karen Temple, Cinzia Magnani, Marc De Buyzere, Anne Dieux-Coeslier, Ilkka Kaitila, Elisabeth Van Aken, Riina Zordania, Veronica Ileana Guerci, Loreto Martorell, Thomas Rosenberg, Dragana Josifova, Yvonne Hilhorts-Hofstee, Andrew Green, Meriel McEntagart, Melissa Lees, Jules G. Leroy, Jenny Morton, Paul Coucke, Valérie Cormier-Daire, Geert Mortier
Publikováno v:
Hoornaert, K P, Vereecke, I, Dewinter, C, Rosenberg, T, Beemer, F A, Leroy, J G, Bendix, L, Bjorck, E, Bonduelle, M, Boute, O, Cormier-Daire, V, De Die-Smulders, C, Dollfus, H, Elting, M, Green, A, Guerci, V I, Hennekam, R C M, Hilhorts-Hofstee, Y, Holder, M, Hoyng, C, Jones, K J, Josifova, D, Kaitila, I, Kjaergaard, S, Kroes, Y H, Lagerstedt, K, Lees, M, LeMerrer, M, Magnani, C, Marcelis, C, Martorell, L, Mathieu, M, McEntagart, M, Mendicino, A, Morton, J, Orazio, G, Paquis, V, Reish, O, Simola, K O J, Smithson, S F, Temple, K I, Van Aken, E, van Bever, Y, van der Ende, J, van Hagen, J M, Zelante, L, Zordania, R, De Paepe, A, Leroy, B P, de Buyzere, M, Coucke, P J & Mortier, G R 2010, ' Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients ', European Journal of Human Genetics, vol. 18, no. 8, pp. 872-880 . https://doi.org/10.1038/ejhg.2010.23
European Journal of Human Genetics, 18, 8, pp. 872-80
European Journal of Human Genetics, 18(8), 872-880. Nature Publishing Group
European journal of human genetics
Vrije Universiteit Brussel
European Journal of Human Genetics, 18, 872-80
European journal of human genetics, 18(8), 872-880. Nature Publishing Group
European Journal of Human Genetics, 18, 8, pp. 872-80
European Journal of Human Genetics, 18(8), 872-880. Nature Publishing Group
European journal of human genetics
Vrije Universiteit Brussel
European Journal of Human Genetics, 18, 872-80
European journal of human genetics, 18(8), 872-880. Nature Publishing Group
Contains fulltext : 89172.pdf (Publisher’s version ) (Closed access) Stickler syndrome is an autosomal dominant connective tissue disorder caused by mutations in different collagen genes. The aim of our study was to define more precisely the phenot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::180afca07f39f87670a3a37fd42f83f5
https://research.vumc.nl/en/publications/b8088600-2a96-4ef4-a89a-a0cf75cbb36c
https://research.vumc.nl/en/publications/b8088600-2a96-4ef4-a89a-a0cf75cbb36c