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Citation: F. Giraudeau et al., Use of a set of highly polymorphic minisatellite probes for the identification of cryptic 1p36.3 deletions in a large collection of patients with idiopathic mental retardation, J MED GENET, 38(2), 2001, pp. 121-125

Authors: de Lonlay, P Seta, N Barrot, S Chabrol, B Drouin, V Gabriel, BM Journel, H Kretz, M Laurent, J Le Merrer, M Leroy, A Pedespan, D Sarda, P Villeneuve, N Schmitz, J van Schaftingen, E Matthijs, G Jaeken, J Korner, C Munnich, A Saudubray, JM Cormier-Daire, V

Citation: P. De Lonlay et al., A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases, J MED GENET, 38(1), 2001, pp. 14-19

Authors: Verloes, A Lesenfants, S Barr, M Grange, DK Journel, H Lombet, J Mortier, G Roeder, E

Citation: A. Verloes et al., Fronto-otopalatodigital osteodysplasia: Clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia, AM J MED G, 90(5), 2000, pp. 407-422

Authors: Scotet, V de Braekeleer, M Roussey, M Rault, G Parent, P Dagorne, M Journel, H Lemoigne, A Codet, JP Catheline, M David, V Chaventre, A Dugueperoux, I Verlingue, C Quere, I Mercier, B Audrezet, MP Ferec, C

Citation: V. Scotet et al., Neonatal screening for cystic fibrosis in Brittany, France: assessment of 10 years' experience and impact on prenatal diagnosis, LANCET, 356(9232), 2000, pp. 789-794