Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia
HEUERTZ, Solange, LE MERRER, Martine, ZABEL, Bernhard, WRIGHT, Michael, LEGEAI-MALLET, Laurence, CORMIER-DAIRE, Valérie, GIBBS, Linda, BONA VENTURE, Jacky
Published in European journal of human genetics : EJHG (01.12.2006)
Published in European journal of human genetics : EJHG (01.12.2006)
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
Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome
LAJEUNIE, Elisabeth, HEUERTZ, Solange, EL GHOUZZI, Vincent, MARTINOVIC, Jelena, RENIER, Dominique, LE MERRER, Martine, BONAVENTURE, Jacky
Published in European journal of human genetics : EJHG (01.03.2006)
Published in European journal of human genetics : EJHG (01.03.2006)
Get full text
Journal Article
Human immortalized chondrocytes carrying heterozygous FGFR3 mutations: An in vitro model to study chondrodysplasias
Benoist-Lasselin, Catherine, Gibbs, Linda, Heuertz, Solange, Odent, Thierry, Munnich, Arnold, Legeai-Mallet, Laurence
Published in FEBS letters (12.06.2007)
Published in FEBS letters (12.06.2007)
Get full text
Journal Article
Erratum: Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia
Heuertz, Solange, Le Merrer, Martine, Zabel, Bernhard, Wright, Michael, Legeai-Mallet, Laurence, Cormier-Daire, Valérie, Gibbs, Linda, Bonaventure, Jacky
Published in European journal of human genetics : EJHG (23.11.2006)
Published in European journal of human genetics : EJHG (23.11.2006)
Get full text
Journal Article
Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia
Heuertz, Solange, Martine Le Merrer, Zabel, Bernhard, Wright, Michael, Legeai-Mallet, Laurence, Cormier-Daire, Valérie, Gibbs, Linda, Bonaventure, Jacky
Published in European journal of human genetics : EJHG (01.12.2006)
Published in European journal of human genetics : EJHG (01.12.2006)
Get full text
Journal Article
A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation
Colleaux, L, Rio, M, Heuertz, S, Moindrault, S, Turleau, C, Ozilou, C, Gosset, P, Raoult, O, Lyonnet, S, Cormier-Daire, V, Amiel, J, Le Merrer, M, Picq, M, de Blois, M C, Prieur, M, Romana, S, Cornelis, F, Vekemans, M, Munnich, A
Published in European journal of human genetics : EJHG (01.05.2001)
Published in European journal of human genetics : EJHG (01.05.2001)
Get full text
Journal Article
Probable identity-by-descent for a mutation in the Dyggve-Melchior-Clausen/Smith-McCort dysplasia (Dymeclin) gene among patients from Guam, Chile, Argentina, and Spain
Pogue, Robert, Ehtesham, Nadia, Repetto, Gabriela M., Carrero-Valenzuela, Roque, de Casella, Cristina Bazán, de Pons, Silvia Pintos, Martínez-Frías, Maria Luisa, Heuertz, Solange, Cormier-Daire, Valerie, Cohn, Daniel H.
Published in American journal of medical genetics. Part A (15.09.2005)
Published in American journal of medical genetics. Part A (15.09.2005)
Get full text
Journal Article
Mutation analysis of the DKC1 gene in incontinentia pigmenti
HEISS, NINA S, POUSTKA, ANNEMARIE, KNIGHT, STUART W, ARADHYA, SWAROOP, NELSON, DAVID L, LEWIS, RICHARD A, ESPOSITO, TERESA, CICCODICOLA, ALFREDO, D’URSO, MICHELE, SMAHI, ASMAE, HEUERTZ, SOLANGE, MUNNICH, ARNOLD, VABRES, PIERRE, WOFFENDIN, HAYLEY, KENWRICK, SUSAN
Published in Journal of medical genetics (01.11.1999)
Published in Journal of medical genetics (01.11.1999)
Get full text
Journal Article
Genetic mapping of Xp22.12-p22.31, with a refined localization for spondyloepiphyseal dysplasia (SEDL)
Heuertz, S, Smahi, A, Wilkie, A O, Le Merrer, M, Maroteaux, P, Hors-Cayla, M C
Published in Human genetics (01.10.1995)
Published in Human genetics (01.10.1995)
Get more information
Journal Article
The Gene for Spondyloepiphyseal Dysplasia (SEDL) Maps to Xp22 between DXS16 and DXS92
Heuertz, Solange, Nelen, Marcel, Wilkie, Andrew O.M., Le Merrer, Martine, Delrieu, Olivier, Larget-Piet, Luc, Tranebjaerg, Lisbeth, Bick, David, Hamel, Ben, Van Oost, Bernard A., Maroteaux, Pierre, Hors-Cayla, Marie-Claude
Published in Genomics (San Diego, Calif.) (01.10.1993)
Published in Genomics (San Diego, Calif.) (01.10.1993)
Get full text
Journal Article
Alport syndrome: a genetic study of 31 families
M'Rad, R, Sanak, M, Deschenes, G, Zhou, J, Bonaiti-Pellie, C, Holvoet-Vermaut, L, Heuertz, S, Gubler, M C, Broyer, M, Grunfeld, J P
Published in Human genetics (01.12.1992)
Published in Human genetics (01.12.1992)
Get more information
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
Report
Filamin (FLN1), plexin (SEX), major palmitoylated protein p55 (MPP1), and von-Hippel Lindau binding protein (VBP1) are not involved in incontinentia pigmenti type 2
Aradhya, S, Ahobila, P, Lewis, R A, Nelson, D L, Esposito, T, Ciccodicola, A, Bardaro, T, D'Urso, M, Woffendin, H, Kenwrick, S, Smahi, A, Heuertz, S, Munnich, A, Heiss, N S, Poustka, A, Chishti, A H
Published in American journal of medical genetics (04.09.2000)
Published in American journal of medical genetics (04.09.2000)
Get more information
Journal Article