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Results:
1-13
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Results: 13
Authors:
Francannet, C
Cohen-Tanugi, A
Le Merrer, M
Munnich, A
Bonaventure, J
Legeai-Mallet, L
Citation: C. Francannet et al., Genotype-phenotype correlation in hereditary multiple exostoses, J MED GENET, 38(7), 2001, pp. 430-434
Authors:
El Ghouzzi, V
Legeai-Mallet, L
Benoist-Lasselin, C
Lajeunie, E
Renier, D
Munnich, A
Bonaventure, J
Citation: V. El Ghouzzi et al., Mutations in the basic domain and the loop-helix II junction of TWIST abolish DNA binding in Saethre-Chotzen syndrome, FEBS LETTER, 492(1-2), 2001, pp. 112
Authors:
Billerey, C
Chopin, D
Aubriot-Lorton, MH
Ricol, D
de Medina, SGD
Van Rhijn, B
Bralet, MP
Lefrere-Belda, MA
Lahaye, JB
Abbou, CC
Bonaventure, J
Zafrani, ES
van der Kwast, T
Thiery, JP
Radvanyi, F
Citation: C. Billerey et al., Frequent FGFR3 mutations in papillary non-invasive bladder (pTa) tumors, AM J PATH, 158(6), 2001, pp. 1955-1959
Authors:
El Ghouzzi, V
Legeai-Mallet, L
Aresta, S
Benoist, C
Munnich, A
de Gunzburg, J
Bonaventure, J
Citation: V. El Ghouzzi et al., Saethre-Chotzen mutations cause TWIST protein degradation or impaired nuclear location, HUM MOL GEN, 9(5), 2000, pp. 813-819
Authors:
Megarbane, A
Melki, I
Souraty, N
Gerbaka, J
El Ghouzzi, V
Bonaventure, J
Mornand, A
Loiselet, J
Citation: A. Megarbane et al., Overlap between Baller-Gerold and Rothmund-Thomson syndrome, CLIN DYSMOR, 9(4), 2000, pp. 303-305
Authors:
Legeai-Mallet, L
Rossi, A
Benoist-Lasselin, C
Piazza, R
Malet, JF
Delezoide, AL
Munnich, A
Bonaventure, J
Zylberberg, L
Citation: L. Legeai-mallet et al., EXT 1 gene mutation induces chondrocyte cytoskeletal abnormalities and defective collagen expression in the exostoses, J BONE MIN, 15(8), 2000, pp. 1489-1500
Authors:
Lajeunie, E
Bonaventure, J
El Ghouzzi, V
Catala, M
Renier, D
Citation: E. Lajeunie et al., Monozygotic twins with Crouzon syndrome: Concordance for craniosynostosis and discordance for thumb duplication, AM J MED G, 91(2), 2000, pp. 159-160
Authors:
Renier, D
El Ghouzzi, V
Bonaventure, J
Le Merrer, M
Lajeunie, E
Citation: D. Renier et al., Fibroblast growth factor receptor 3 mutation in nonsyndromic coronal synostosis: clinical spectrum, prevalence, and surgical outcome, J NEUROSURG, 92(4), 2000, pp. 631-636
Authors:
Melkoniemi, M
Brunner, HG
Manouvrier, S
Hennekam, R
Superti-Furga, A
Kaariainen, H
Pauli, RM
van Essen, T
Warman, ML
Bonaventure, J
Miny, P
Ala-Kokko, L
Citation: M. Melkoniemi et al., Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene, AM J HU GEN, 66(2), 2000, pp. 368-377
Authors:
El Ghouzzi, V
Lajeunie, E
Le Merrer, M
Cormier-Daire, V
Renier, D
Munnich, A
Bonaventure, J
Citation: V. El Ghouzzi et al., Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome, EUR J HUM G, 7(1), 1999, pp. 27-33
Authors:
Lajeunie, E
Cameron, R
El Ghouzzi, V
de Parseval, N
Journeau, P
Gonzales, M
Delezoide, AL
Bonaventure, J
Le Merrer, M
Renier, D
Citation: E. Lajeunie et al., Clinical variability in patients with Apert's syndrome, J NEUROSURG, 90(3), 1999, pp. 443-447
Authors:
Lajeunie, E
El Ghouzzi, V
Le Merrer, M
Munnich, A
Bonaventure, J
Renier, D
Citation: E. Lajeunie et al., Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation, J MED GENET, 36(1), 1999, pp. 9-13
Authors:
Paassilta, P
Lohiniva, J
Annunen, S
Bonaventure, J
Le Merrer, M
Pai, L
Ala-Kokko, L
Citation: P. Paassilta et al., COL9A3: A third locus for multiple epiphyseal dysplasia, AM J HU GEN, 64(4), 1999, pp. 1036-1044
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