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Results: 1-8 |
Results: 8
A novel syndrome with dwarfism, poorly muscled build, absent clavicles, humeroradial fusion, slender bones, oligodactyly and micrognathia
Authors: Faivre, L Cormier-Daire, V Genevieve, D Pinto, G Goulet, O Munnich, A Maroteaux, P Le Merrer, M
Citation: L. Faivre et al., A novel syndrome with dwarfism, poorly muscled build, absent clavicles, humeroradial fusion, slender bones, oligodactyly and micrognathia, CLIN DYSMOR, 10(3), 2001, pp. 181-184
Mazabraud syndrome in two patients: Clinical overlap with McCune-Albright syndrome
Authors: Faivre, L Nivelon-Chevallier, A Kottler, ML Robinet, C Van Kien, PK Lorcerie, B Munnich, A Maroteaux, P Cormier-Daire, V LeMerrer, M
Citation: L. Faivre et al., Mazabraud syndrome in two patients: Clinical overlap with McCune-Albright syndrome, AM J MED G, 99(2), 2001, pp. 132-136
Acromicric dysplasia: long term outcome and evidence of autosomal dominantinheritance
Authors: Faivre, L Le Merrer, M Baumann, C Polak, M Chatelain, P Sulmont, V Cousin, J Bost, M Cordier, MP Zackai, E Russell, K Finidori, G Pouliquen, JC Munnich, A Maroteaux, P Cormier-Daire, V
Citation: L. Faivre et al., Acromicric dysplasia: long term outcome and evidence of autosomal dominantinheritance, J MED GENET, 38(11), 2001, pp. 745-749
Exclusion of chromosome 9 helps to identify mild variants of acromesomelicdysplasia Maroteaux type
Authors: Faivre, L Le Merrer, M Megarbane, A Gilbert, B Mortier, G Cusin, V Munnich, A Maroteaux, P Cormier-Daire, V
Citation: L. Faivre et al., Exclusion of chromosome 9 helps to identify mild variants of acromesomelicdysplasia Maroteaux type, J MED GENET, 37(1), 2000, pp. 52-54
Unusual fan shaped ossification in a female fetus with radiological features of boomerang dysplasia
Authors: Odent, S Loget, P Le Marec, B Delezoide, AL Maroteaux, P
Citation: S. Odent et al., Unusual fan shaped ossification in a female fetus with radiological features of boomerang dysplasia, J MED GENET, 36(4), 1999, pp. 330-332
Two sibs with an unusual pattern of skeletal malformations resembling osteogenesis imperfecta: a new type of skeletal dysplasia?
Authors: Moog, U Maroteaux, P Schrander-Stumpel, CTRM van Ooij, A Schrander, JJP Fryns, JP
Citation: U. Moog et al., Two sibs with an unusual pattern of skeletal malformations resembling osteogenesis imperfecta: a new type of skeletal dysplasia?, J MED GENET, 36(11), 1999, pp. 856-858
Commentary - IMAGe, a new clinical association of Intrauterine growth retardation, Mataphyseal dysplasia, Adrenal hypoplasia congenita, Genital anomalies
Authors: Vilain, E Le Merrer, M Lecointre, C Desangles, F Kay, MA Maroteaux, P McCabe, ERB
Citation: E. Vilain et al., Commentary - IMAGe, a new clinical association of Intrauterine growth retardation, Mataphyseal dysplasia, Adrenal hypoplasia congenita, Genital anomalies, J CLIN END, 84(12), 1999, pp. 4335-4340
Bilateral Poland anomaly versus thoracic dysplasia
Authors: Maroteaux, P Le Merrer, M
Citation: P. Maroteaux et M. Le Merrer, Bilateral Poland anomaly versus thoracic dysplasia, AM J MED G, 80(5), 1998, pp. 538-538
Risultati: 1-8 |