Fgfr3 Is a Positive Regulator of Osteoblast Expansion and Differentiation During Zebrafish Skull Vault Development
Dambroise, Emilie, Ktorza, Ivan, Brombin, Alessandro, Abdessalem, Ghaith, Edouard, Joanne, Luka, Marine, Fiedler, Imke, Binder, Olivia, Pelle, Olivier, Patton, E Elizabeth, Busse, Björn, Menager, Mickaël, Sohm, Frederic, Legeai‐Mallet, Laurence
Published in Journal of bone and mineral research (01.09.2020)
Published in Journal of bone and mineral research (01.09.2020)
Get full text
Journal Article
Central nervous system malformations and deformations in FGFR2-related craniosynostosis
Khonsari, Roman Hossein, Delezoide, Anne-Lise, Kang, Wenfei, Hébert, Jean M., Bessières, Bettina, Bodiguel, Valérie, Collet, Catherine, Legeai-Mallet, Laurence, Sharpe, Paul T., Fallet-Bianco, Catherine
Published in American journal of medical genetics. Part A (01.11.2012)
Published in American journal of medical genetics. Part A (01.11.2012)
Get full text
Journal Article
Constitutively-active FGFR3 disrupts primary cilium length and IFT20 trafficking in various chondrocyte models of achondroplasia
Martin, Ludovic, Kaci, Nabil, Estibals, Valentin, Goudin, Nicolas, Garfa-Traore, Meriem, Benoist-Lasselin, Catherine, Dambroise, Emilie, Legeai-Mallet, Laurence
Published in Human molecular genetics (01.01.2018)
Published in Human molecular genetics (01.01.2018)
Get full text
Journal Article
Evaluation of the Therapeutic Potential of a CNP Analog in a Fgfr3 Mouse Model Recapitulating Achondroplasia
Lorget, Florence, Kaci, Nabil, Peng, Jeff, Benoist-Lasselin, Catherine, Mugniery, Emilie, Oppeneer, Todd, Wendt, Dan J., Bell, Sean M., Bullens, Sherry, Bunting, Stuart, Tsuruda, Laurie S., O'Neill, Charles A., Di Rocco, Federico, Munnich, Arnold, Legeai-Mallet, Laurence
Published in American journal of human genetics (07.12.2012)
Published in American journal of human genetics (07.12.2012)
Get full text
Journal Article
Thanatophoric dysplasia caused by double missense FGFR3 mutations
Pannier, Stéphanie, Martinovic, Jelena, Heuertz, Solange, Delezoide, Anne‐Lise, Munnich, Arnold, Schibler, Laurent, Serre, Valérie, Legeai‐Mallet, Laurence
Published in American journal of medical genetics. Part A (01.06.2009)
Published in American journal of medical genetics. Part A (01.06.2009)
Get full text
Journal Article
Craniofacial growth and function in achondroplasia: a multimodal 3D study on 15 patients
Morice, Anne, Taverne, Maxime, Eché, Sophie, Griffon, Lucie, Fauroux, Brigitte, Leboulanger, Nicolas, Couloigner, Vincent, Baujat, Geneviève, Cormier-Daire, Valérie, Picard, Arnaud, Legeai-Mallet, Laurence, Kadlub, Natacha, Khonsari, Roman Hossein
Published in Orphanet journal of rare diseases (18.04.2023)
Published in Orphanet journal of rare diseases (18.04.2023)
Get full text
Journal Article
Corrigendum to "Hyperphosphatasia With Seizures, Neurologic Deficit, and Characteristic Facial Features: Five New Patients With Mabry Syndrome" Am J Med Genet 152A: 1661-1669
Thompson, Miles D., Nezarati, Marjan M., Gillessen-Kaesbach, Gabriele, Meinecke, Peter, Mendoza-Londono, Roberto, Mornet, Etienne, Brun-Heath, Isabelle, Squarcioni, Catherine Prost, Legeai-Mallet, Laurence, Munnich, Arnold, Cole, David E.C.
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
Embryonic cranial cartilage defects in the Fgfr3 Y367C /+ mouse model of achondroplasia
Motch Perrine, Susan M, Sapkota, Nishchal, Kawasaki, Kazuhiko, Zhang, Yejia, Chen, Danny Z, Kawasaki, Mizuho, Durham, Emily L, Heuzé, Yann, Legeai-Mallet, Laurence, Richtsmeier, Joan T
Published in Anatomical record (Hoboken, N.J. : 2007) (25.09.2023)
Published in Anatomical record (Hoboken, N.J. : 2007) (25.09.2023)
Get full text
Journal Article
Embryonic cranial cartilage defects in the Fgfr3Y367C /+ mouse model of achondroplasia
Motch Perrine, Susan M, Sapkota, Nishchal, Kawasaki, Kazuhiko, Zhang, Yejia, Chen, Danny Z, Kawasaki, Mizuho, Durham, Emily L, Heuzé, Yann, Legeai-Mallet, Laurence, Richtsmeier, Joan T
Published in Anatomical record (Hoboken, N.J. : 2007) (25.09.2023)
Published in Anatomical record (Hoboken, N.J. : 2007) (25.09.2023)
Get full text
Journal Article
Hereditary multiple exostoses and enchondromatosis
Pannier, Stéphanie, MD, Legeai-Mallet, Laurence, PhD
Published in Best practice & research. Clinical rheumatology (01.03.2008)
Published in Best practice & research. Clinical rheumatology (01.03.2008)
Get full text
Journal Article
Distinct Effects of Allelic NFIX Mutations on Nonsense-Mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome
Malan, Valérie, Rajan, Diana, Thomas, Sophie, Shaw, Adam C., Louis dit Picard, Hélène, Layet, Valérie, Till, Marianne, van Haeringen, Arie, Mortier, Geert, Nampoothiri, Sheela, Pušeljić, Silvija, Legeai-Mallet, Laurence, Carter, Nigel P., Vekemans, Michel, Munnich, Arnold, Hennekam, Raoul C., Colleaux, Laurence, Cormier-Daire, Valérie
Published in American journal of human genetics (13.08.2010)
Published in American journal of human genetics (13.08.2010)
Get full text
Journal Article
Chondrocytes Play a Major Role in the Stimulation of Bone Growth by Thyroid Hormone
Desjardin, Clémence, Charles, Cyril, Benoist-Lasselin, Catherine, Riviere, Julie, Gilles, Mailys, Chassande, Olivier, Morgenthaler, Caroline, Laloé, Denis, Lecardonnel, Jérôme, Flamant, Frédéric, Legeai-Mallet, Laurence, Schibler, Laurent
Published in Endocrinology (Philadelphia) (01.08.2014)
Published in Endocrinology (Philadelphia) (01.08.2014)
Get full text
Journal Article
Incomplete penetrance and expressivity skewing in hereditary multiple exostoses
Legeai-Mallet, Laurence, Munnich, Arnold, Maroteaux, Pierre, Merrer, Martine Le
Published in Clinical genetics (01.07.1997)
Published in Clinical genetics (01.07.1997)
Get full text
Journal Article
ADAMTS10 Mutations in Autosomal Recessive Weill-Marchesani Syndrome
Dagoneau, Nathalie, Benoist-Lasselin, Catherine, Huber, Céline, Faivre, Laurence, Mégarbané, André, Alswaid, Abdulrahman, Dollfus, Hélène, Alembik, Yves, Munnich, Arnold, Legeai-Mallet, Laurence, Cormier-Daire, Valérie
Published in American journal of human genetics (01.11.2004)
Published in American journal of human genetics (01.11.2004)
Get full text
Journal Article
The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia
Mehawej, Cybel, Delahodde, Agnès, Legeai-Mallet, Laurence, Delague, Valérie, Kaci, Nabil, Desvignes, Jean-Pierre, Kibar, Zoha, Capo-Chichi, José-Mario, Chouery, Eliane, Munnich, Arnold, Cormier-Daire, Valérie, Mégarbané, André
Published in PLoS genetics (01.05.2014)
Published in PLoS genetics (01.05.2014)
Get full text
Journal Article
Prevention of guanylyl cyclase-B dephosphorylation rescues achondroplastic dwarfism
Wagner, Brandon M, Robinson, Jerid W, Lin, Yun-Wen, Lee, Yi-Ching, Kaci, Nabil, Legeai-Mallet, Laurence, Potter, Lincoln R
Published in JCI insight (10.05.2021)
Published in JCI insight (10.05.2021)
Get full text
Journal Article
cluster of translocation breakpoints in 2q37 is associated with overexpression of NPPC in patients with a similar overgrowth phenotype
Moncla, Anne, Missirian, Chantal, Cacciagli, Pierre, Balzamo, Eve, Legeai-Mallet, Laurence, Jouve, Jean-Luc, Chabrol, Brigitte, Le Merrer, Martine, Plessis, Ghislaine, Villard, Laurent, Philip, Nicole
Published in Human mutation (01.12.2007)
Published in Human mutation (01.12.2007)
Get full text
Journal Article