Authors:
Bartels, Cynthia F.
Bükülmez, Hülya
Padayatti, Pius
Rhee, David K.
Ravenswaaij-Arts, Conny, Van
Pauli, Richard M.
Mundlos, Stefan
Chiatayat, David
Shih, Ling-Yu
Al-Gazali, Lihadh I.
Kant, Sarina
Cole, Trevor
Morton, Jenny
Cormier-Daire, Valérie
Faivre, Laurence
Lees, Melissa
Kirk, Jeremy
Mortier, Geert R.
Leory, Jules
Zabel, Bernhard
Kim, Chong Ae
Crow, Yanick
Braveman, Nancy E.
Akker, Focco, Van : der
Warman, Matthew L.
Citation: F. Bartels, Cynthia et al., Mutations in the Transmembrane Natriuretic Peptide Receptor NPR-B Impair Skeletal Growth and Cause Acromesomelic Dysplasia, Type Maroteaux, American journal of human genetics , 75(1), 2004, pp. 27-34
Authors:
Malan, Valérie
Rajan, Diana
Thomas, Sophie
Shaw, Adam C.
Cormier-Daire, Valérie
Citation: Malan, Valérie et al., Distinct Effects of Allelic NFIX Mutations on Nonsense-Mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome, American journal of human genetics (Online) AJHG , 87(2), 2010, pp. 189-198
Authors:
Tatton-Brown, Katrina
Douglas, Jenny
Coleman, Kim
Baujat, Geneviève
Cole, Trevor R.P.
Das, Soma
Horn, Denise
Hughes, Helen E.
Temple, Karen I.
Faravelli, Francesca
Waggoner, Darrel
Türkmen, Seval
Cormier-Daire, Valérie
Irrthum, Alexandre
Rahman, Nazneen
Childhood Overgrowth Collaboration
Citation: Tatton-brown, Katrina et al., Genotype-Phenotype Associations in Sotos Syndrome: An Analysis of 266 Individuals with NSD1 Aberrations, American journal of human genetics , 77(2), 2005, pp. 193-204
Authors:
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-Fuga, Andrea
Le Merrer, Martine
Bonaventure, Jacky
Munnich, Arnold
Legeai-Mallet, Laurence
Cormier-Daire, Valérie
Citation: Dagoneau, Nathalie et al., Null Leukemia Inhibitory Factor Receptor (LIFR) Mutations in Stüve-Wiedemann/Schwartz-Jampel Type 2 Syndrome, American journal of human genetics , 74(2), 2004, pp. 298-305
Authors:
Benito-Sanz, Sara
Thomas, Simon N.
Huber, Céline
Gorbenko del Blanco, Darya
Aza-Carmona, Miriam
Crolla, John A.
Maloney, Vivienne
Argente, Jesùs
Campos-Barros, Ángel
Cormier-Daire, Valérie
Heath, Karen E.
Citation: Benito-sanz, Sara et al., A Novel Class of Pseudoautosomal Region 1 Deletions Downstream of SHOX Is Associated with Léri-Weill Dyschondrosteosis, American journal of human genetics , 77(4), 2005, pp. 533-544
Citation: Dagoneau, Nathalie et al., ADAMTS10 Mutations in Autosomal Recessive Weill-Marchesani Syndrome, American journal of human genetics , 75(5), 2004, pp. 801-806