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

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Missense mutations in the β strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia von Jackson, G C, Barker, F S, Jakkula, E, Czarny-Ratajczak, M, Mäkitie, O, Cole, W G, Wright, M J, Smithson, S F, Suri, M, Rogala, P, Mortier, G R, Baldock, C, Wallace, A, Elles, R, Ala-Kokko, L, Briggs, M D

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Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene von Briggs, M.D, Hoffman, S.M.G, King, L.M, Olsen, A.S, Mohrenweiser, H, Leroy, J.G, Mortier, G.R, Rimoin, D.L, Lachman, R.S, Gaines, E.S, Cekleniak, J.A, Knowlton, R.G, Cohn, D.H

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The diagnosis of skeletal dysplasias: a multidisciplinary approach von Mortier, Geert R

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Diverse Mutations in the Gene for Cartilage Oligomeric Matrix Protein in the Pseudoachondroplasia–Multiple Epiphyseal Dysplasia Disease Spectrum von Briggs, Michael D., Mortier, Geert R., Cole, William G., King, Lily M., Golik, Steven S., Bonaventure, Jacky, Nuytinck, Lieve, De Paepe, Anne, Leroy, Jules G., Biesecker, Leslie, Lipson, Mark, Wilcox, William R., Lachman, Ralph S., Rimoin, David L., Knowlton, Robert G., Cohn, Daniel H.

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Dentinogenesis imperfecta associated with short stature, hearing loss and mental retardation: a new syndrome with autosomal recessive inheritance? von Cauwels, R. G. E. C., De Coster, P. J., Mortier, G. R., Marks, L. A. M., Martens, L. C.

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Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder von MORTIER, G. R, WEIS, M, NUYTINCK, L, KING, L. M, WILKIN, D. J, DE PAEPE, A, LACHMAN, R. S, RIMOIN, D. L, EYRE, D. R, COHN, D. H

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Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia von Briggs, Michael D, Chapman, Kathryn L, Mortier, Geert R, Chapman, Kay, Loughlin, John, Grant, Michael E

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Hyperekplexia associated with compound heterozygote mutations in the β-subunit of the human inhibitory glycine receptor (GLRB) von Rees, Mark I., Lewis, Trevor M., Kwok, John B. J., Mortier, Geert R., Govaert, Paul, Snell, Russell G., Schofield, Peter R., Owen, Michael J.

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Acrocapitofemoral dysplasia: an autosomal recessive skeletal dysplasia with cone shaped epiphyses in the hands and hips von Mortier, G R, Kramer, P P G, Giedion, A, Beemer, F A

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Unilateral Semicircular Canal Aplasia in Goldenhar's Syndrome von Lemmerling, Marc M, Vanzieleghem, Bart D, Mortier, Geert R, Dhooge, Ingeborg J, Kunnen, Marc F

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Nosology of genetic skeletal disorders: 2023 revision von Unger, Sheila, Ferreira, Carlos R., Mortier, Geert R., Ali, Houda, Bertola, Débora R., Calder, Alistair, Cohn, Daniel H., Cormier‐Daire, Valerie, Girisha, Katta M., Hall, Christine, Krakow, Deborah, Makitie, Outi, Mundlos, Stefan, Nishimura, Gen, Robertson, Stephen P., Savarirayan, Ravi, Sillence, David, Simon, Marleen, Sutton, V. Reid, Warman, Matthew L., Superti‐Furga, Andrea

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Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm von Lindsay, Mark E, Schepers, Dorien, Bolar, Nikhita Ajit, Doyle, Jefferson J, Gallo, Elena, Fert-Bober, Justyna, Kempers, Marlies J E, Fishman, Elliot K, Chen, Yichun, Myers, Loretha, Bjeda, Djahita, Oswald, Gretchen, Elias, Abdallah F, Levy, Howard P, Anderlid, Britt-Marie, Yang, Margaret H, Bongers, Ernie M H F, Timmermans, Janneke, Braverman, Alan C, Canham, Natalie, Mortier, Geert R, Brunner, Han G, Byers, Peter H, Van Eyk, Jennifer, Van Laer, Lut, Dietz, Harry C, Loeys, Bart L

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Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: Description of 12 patients von Mäkitie, Outi, Mortier, Geert R., Czarny-Ratajczak, Malwina, Wright, Michael J., Suri, Mohnish, Rogala, Piotr, Freund, Margarida, Jackson, Gail C., Jakkula, Eveliina, Ala-Kokko, Leena, Briggs, Michael D., Cole, William G.

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Beckwith-Wiedemann Syndrome: An Update and Review for the Primary Pediatrician von Weng, Elaine Y., Mortier, Geert R., Graham, John M.

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Chondrodysplasia punctata with multiple congenital anomalies: a new syndrome? von Mortier, G R, Messiaen, L M, Espeel, M, Smets, K J, Vanzieleghem, B D, Roels, F, De Paepe, A M

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Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients von Hoornaert, Kristien P, Vereecke, Inge, Dewinter, Chantal, Rosenberg, Thomas, Beemer, Frits A, Leroy, Jules G, Bendix, Laila, Björck, Erik, Bonduelle, Maryse, Boute, Odile, Cormier-Daire, Valerie, De Die-Smulders, Christine, Dieux-Coeslier, Anne, Dollfus, Hélène, Elting, Mariet, Green, Andrew, Guerci, Veronica I, Hennekam, Raoul C M, Hilhorts-Hofstee, Yvonne, Holder, Muriel, Hoyng, Carel, Jones, Kristi J, Josifova, Dragana, Kaitila, Ilkka, Kjaergaard, Suzanne, Kroes, Yolande H, Lagerstedt, Kristina, Lees, Melissa, LeMerrer, Martine, Magnani, Cinzia, Marcelis, Carlo, Martorell, Loreto, Mathieu, Michèle, McEntagart, Meriel, Mendicino, Angela, Morton, Jenny, Orazio, Gabrielli, Paquis, Véronique, Reish, Orit, Simola, Kalle O J, Smithson, Sarah F, Temple, Karen I, Van Aken, Elisabeth, Van Bever, Yolande, van den Ende, Jenneke, Van Hagen, Johanna M, Zelante, Leopoldo, Zordania, Riina, De Paepe, Anne, Leroy, Bart P, De Buyzere, Marc, Coucke, Paul J, Mortier, Geert R

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Clinical and radiographic features of multiple epiphyseal dysplasia not linked to the COMP or type IX collagen genes von Mortier, G R, Chapman, K, Leroy, J L, Briggs, M D

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Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis von Vandesompele, Jo, Verschueren, Kristin, Savarirayan, Ravi, Costa, Teresa, Huylebroeck, Danny, Mortier, Geert R, Willaert, Andy, Preobrazhenska, Olena, Janssens, Katrien, Vermeulen, Stefan J T, Naeyaert, Jean-Marie, Hul, Wim Van, Coucke, Paul J, Paepe, Anne De, Menten, Bjorn, Hellemans, Jan, Debeer, Philippe, Verdonk, Peter C M, Vanhoenacker, Filip, Speleman, Frank, Roy, Nadine Van

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Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing von Messiaen, L M, Callens, T, Roux, K J, Mortier, G R, De Paepe, A, Abramowicz, M, Pericak-Vance, M A, Vance, J M, Wallace, M R

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