Acrocapitofemoral dysplasia: an autosomal recessive skeletal dysplasia with cone shaped epiphyses in the hands and hips

Por Mortier, G, Kramer, P, Giedion, A, Beemer, F
Publicado em 2003

Preconceptional care: a systematic review of the current situation and recommendations for the future

Por Braspenningx, S., Haagdorens, M., Blaumeiser, B., Jacquemyn, Y., Mortier, G.
Publicado em 2013

The annual incidence of DiGeorge/velocardiofacial syndrome.

Por Devriendt, K, Fryns, J P, Mortier, G, van Thienen, M N, Keymolen, K
Publicado em 1998

Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene

Por MORTIER, G., NUYTINCK, L., CRAEN, M., RENARD, J., LEROY, J., DE PAEPE, A.
Publicado em 2000

Dysspondyloenchondromatosis: Another COL2A1-Related Skeletal Dysplasia?

Por Nakane, T., Tando, T., Aoyagi, K., Hatakeyama, K., Nishimura, G., Coucke, I.P.J., Mortier, G., Sugita, K.
Publicado em 2011

Genetic Counselling and Testing for Hereditary Breast and Ovarian Cancer: The Gent(le) Approach

Por De Vos, M., Poppe, B., Delvaux, I., Mortier, G., Claes, K., Messiaen, L., De Paepe, A.
Publicado em 1999

Exclusion of chromosome 9 helps to identify mild variants of acromesomelic dysplasia Maroteaux type

Por Faivre, L., Le Merrer, M., Megarbane, A., Gilbert, B., Mortier, G., Cusin, V., Munnich, A., Maroteaux, P., Cormier-Daire, V.
Publicado em 2000

Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder

Por Mortier, G., Weis, M., Nuytinck, L., King, L., Wilkin, D., De Paepe, A., Lachman, R., Rimoin, D., Eyre, D., Cohn, D.
Publicado em 2000

Identification of novel pro-alpha2(IX) collagen gene mutations in two families with distinctive oligo-epiphyseal forms of multiple epiphyseal dysplasia.

Por Holden, P, Canty, E G, Mortier, G R, Zabel, B, Spranger, J, Carr, A, Grant, M E, Loughlin, J A, Briggs, M D
Publicado em 1999

High incidence of the R276X SALL1 mutation in sporadic but not familial Townes–Brocks syndrome and report of the first familial case

Por Kohlhase, J, Liebers, M, Backe, J, Baumann-Muller, A, Bembea, M, Destree, A, Gattas, M, Grussner, S, Muller, T, Mortier, G, Skrypnyk, C, Yano, S, Wirbelauer, J, Michaelis, R
Publicado em 2003

The mutation spectrum in Holt-Oram syndrome

Por CROSS, S., CHING, Y., LI, Q. Y., ARMSTRONG-BUISSER..., L., SPRANGER, S., LYONNET, S., BONNET, D., PENTTINEN, M., JONVEAUX, P., LEHEUP, B., MORTIER, G., VAN RAVENSWAAIJ, C., GARDINER, C., BROOK, J, NEWBURY-ECOB, R.
Publicado em 2000

PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience

Por Keren, B, Hadchouel, A, Saba, S, Sznajer, Y, Bonneau, D, Leheup, B, Boute, O, Gaillard, D, Lacombe, D, Layet, V, Marlin, S, Mortier, G, Toutain, A, Beylot, C, Baumann, C, Verloes, A, Cave, H, t for
Publicado em 2004

Missense mutations in the ß strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia

Por Jackson, G, Barker, F, Jakkula, E, Czarny-Ratajczak, M, Makitie, O, Cole, W, Wright, M, Smithson, S, Suri, M, Rogala, P, Mortier, G, Baldock, C, Wallace, A, Elles, R, Ala-Kokko, L, Briggs, M
Publicado em 2004

Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses.

Por Wuyts, W, Van Hul, W, De Boulle, K, Hendrickx, J, Bakker, E, Vanhoenacker, F, Mollica, F, Lüdecke, H J, Sayli, B S, Pazzaglia, U E, Mortier, G, Hamel, B, Conrad, E U, Matsushita, M, Raskind, W H, Willems, P J
Publicado em 1998

Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum.

Por Briggs, M D, Mortier, G R, Cole, W G, King, L M, Golik, S S, Bonaventure, J, Nuytinck, L, De Paepe, A, Leroy, J G, Biesecker, L, Lipson, M, Wilcox, W R, Lachman, R S, Rimoin, D L, Knowlton, R G, Cohn, D H
Publicado em 1998

Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of publ...

Por Menten, B, Maas, N, Thienpont, B, Buysse, K, Vandesompele, J, Melotte, C, de Ravel, T, Van Vooren, S, Balikova, I, Backx, L, Janssens, S, De Paepe, A, De Moor, B, Moreau, Y, Marynen, P, Fryns, J‐P, Mortier, G, Devriendt, K, Speleman, F, Vermeesch, J R
Publicado em 2006

Clinical, molecular, and genotype–phenotype correlation studies from 25 cases of oral–facial–digital syndrome type 1: a French and Belgian collaborative study

Por Thauvin‐Robinet, C, Cossée, M, Cormier‐Daire, V, Van Maldergem, L, Toutain, A, Alembik, Y, Bieth, E, Layet, V, Parent, P, David, A, Goldenberg, A, Mortier, G, Héron, D, Sagot, P, Bouvier, A M, Huet, F, Cusin, V, Donzel, A, Devys, D, Teyssier, J R
Publicado em 2006

The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene

Por Hoornaert, K P, Dewinter, C, Vereecke, I, Beemer, F A, Courtens, W, Fryer, A, Fryssira, H, Lees, M, Müllner‐Eidenböck, A, Rimoin, D L, Siderius, L, Superti‐Furga, A, Temple, K, Willems, P J, Zankl, A, Zweier, C, De Paepe, A, Coucke, P, Mortier, G R
Publicado em 2006

IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign

Por Desmyter, L., Ghassibe, M., Revencu, N., Boute, O., Lees, M., François, G., Verellen-Dumoulin, C., Sznajer, Y., Moncla, A., Benateau, H., Claes, K., Devriendt, K., Mathieu, M., Van Maldergem, L., Addor, M.-C., Drouin-Garraud, V., Mortier, G., Bouma, M., Dieux-Coeslier, A., Genevieve, D., Goldenberg, A., Gozu, A., Makrythanasis, P., McEntagart, U., Sanchez, A., Vilain, C., Vermeer, S., Connell, F., Verheij, J., Manouvrier, S., Pierquin, G., Odent, S., Holder-Espinasse, M., Vincent-Delorme, C., Gillerot, Y., Vanwijck, R., Bayet, B., Vikkula, M.
Publicado em 2010

Further delineation of the 15q13 microdeletion and duplication syndromes: A clinical spectrum varying from non-pathogenic to a severe outcome

Por van Bon, B.W.M., Mefford, H.C., Menten, B., Koolen, D. A., Sharp, A. J., Nillesen, W.M., Innis, J.W., de Ravel, T.J.L., Mercer, C.L., Fichera, M., Stewart, H., Connell, L. E., Õunap, K., Lachlan, K., Castle, B., Van der Aa, N., van Ravenswaaij, C., Nobrega, M.A., Serra-Juhé, C, Simonic, I., de Leeuw, N., Pfundt, R., Bongers, E.M., Baker, C., Finnemore, P., Huang, S., Maloney, V.K., Crolla, J.A., van Kalmthout, M., Elia, M., Vandeweyer, G., Fryns, J.P., Janssens, S., Foulds, N., Reitano, S., Smith, K., Parkel, S., Loeys, B., Woods, C.G., Oostra, A., Speleman, F., Pereira, A.C., Kurg, A., Willatt, L., Knight, S.J.L., Vermeesch, J.R., Romano, C., Barber, J.C., Mortier, G., Pérez-Jurado, L.A., Kooy, F., Brunner, H.G., Eichler, E.E., Kleefstra, T., de Vries, B.B.A.
Publicado em 2009