Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia
Hul, Els Van, Warman, Matthew L, Al-Alami, Jamil, Roudier, Jean, Bahabri, Sultan A, Hurvitz, Jennifer R, Pauli, Richard M, El-Shanti, Hatem, Rezai-Delui, Hossien, Van Hul, Wim, Suwairi, Wafaa M, Legius, Eric, Holderbaum, Daniel, Herd, J. Kenneth, Superti-Furga, Andrea, Le Merrer, Martine
Published in Nature genetics (01.09.1999)
Published in Nature genetics (01.09.1999)
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Journal Article
Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans
Van Wesenbeeck, Liesbeth, Odgren, Paul R, Coxon, Fraser P, Frattini, Annalisa, Moens, Pierre, Perdu, Bram, MacKay, Carole A, Van Hul, Els, Timmermans, Jean-Pierre, Vanhoenacker, Filip, Jacobs, Ruben, Peruzzi, Barbara, Teti, Anna, Helfrich, Miep H, Rogers, Michael J, Villa, Anna, Van Hul, Wim
Published in The Journal of clinical investigation (01.04.2007)
Published in The Journal of clinical investigation (01.04.2007)
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Journal Article
Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST)
BALEMANS, Wendy, EBELING, Martin, PAES-ALVES, Auristela F, HILL, Suvimol, BUENO, Manuel, RAMOS, Feliciano J, TACCONI, Paoio, DIKKERS, Frederik G, STRATAKIS, Constantine, LINDPAINTNER, Klaus, VICKERY, Brian, FOERNZLER, Dorothee, PATEL, Neela, VAN HUL, Wim, VAN HUL, Els, OLSON, Pam, DIOSZEGI, Marianna, LACZA, Charlemagne, WUYTS, Wim, VAN DEN ENDE, Jenneke, WILLEMS, Patrick
Published in Human molecular genetics (01.03.2001)
Published in Human molecular genetics (01.03.2001)
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Journal Article
RNA‐Seq detects a SAMD12‐EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas
Oliver, Gavin R., Blackburn, Patrick R., Ellingson, Marissa S., Conboy, Erin, Pinto e Vairo, Filippo, Webley, Matthew, Thorland, Erik, Ferber, Matthew, Van Hul, Els, Werf, Ilse M., Wuyts, Wim, Babovic‐Vuksanovic, Dusica, Klee, Eric W.
Published in Molecular genetics & genomic medicine (01.03.2019)
Published in Molecular genetics & genomic medicine (01.03.2019)
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Journal Article
Van Buchem Disease (Hyperostosis Corticalis Generalisata) Maps to Chromosome 17q12-q21
Van Hul, Wim, Balemans, Wendy, Van Hul, Els, Dikkers, Frederik G., Obee, Henk, Stokroos, Robert J., Hildering, Peter, Vanhoenacker, Filip, Van Camp, Guy, Willems, Patrick J.
Published in American journal of human genetics (01.02.1998)
Published in American journal of human genetics (01.02.1998)
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Journal Article
Localization of a Gene for Autosomal Dominant Osteopetrosis (Albers-Schönberg Disease) to Chromosome 1p21
Van Hul, Wim, Bollerslev, Jens, Gram, Jeppe, Van Hul, Els, Wuyts, Wim, Benichou, Olivier, Vanhoenacker, Filip, Willems, Patrick J.
Published in American journal of human genetics (01.08.1997)
Published in American journal of human genetics (01.08.1997)
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Journal Article
Albers-schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the CICN7 chloride channel gene
CLEIREN, Erna, BENICHOU, Olivier, DEVERNEJOUL, Marie-Christine, VAN HUL, Wim, VAN HUL, Els, GRAM, Jeppe, BOLLERSLEV, Jens, SINGER, Frederick R, BEAVERSON, Katherine, ALEDO, Alexander, WHYTE, Michael P, YONEYAMA, Tatsuo
Published in Human molecular genetics (01.12.2001)
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Published in Human molecular genetics (01.12.2001)
Journal Article
Mutation Screening of EXT1 and EXT2 by Denaturing High-Performance Liquid Chromatography, Direct Sequencing Analysis, Fluorescence in Situ Hybridization, and a New Multiplex Ligation-Dependent Probe Amplification Probe Set in Patients with Multiple Osteochondromas
Jennes, Ivy, Entius, Mark M, Van Hul, Els, Parra, Alessandro, Sangiorgi, Luca, Wuyts, Wim
Published in The Journal of molecular diagnostics : JMD (2008)
Published in The Journal of molecular diagnostics : JMD (2008)
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Journal Article
Clinical and molecular studies of EXT1/EXT2 in Bulgaria
Stancheva-Ivanova, Malina Kirilova, Wuyts, Wim, van Hul, Els, Radeva, Briguita Ivanova, Vazharova, Radoslava Vasileva, Sokolov, Todor Petrov, Vladimirov, Borislav Yordanov, Apostolova, Margarita Dimitrova, Kremensky, Ivo Marinov
Published in Journal of inherited metabolic disease (01.08.2011)
Published in Journal of inherited metabolic disease (01.08.2011)
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Journal Article
Clinical and molecular studies of EXT1/EXT2 in Bulgaria : CDG: an uptdate
STANCHEVA-IVANOVA, Malina Kirilova, WUYTS, Wim, VAN HUL, Els, IVANOVA RADEVA, Briguita, VASILEVA VAZHAROVA, Radoslava, PETROV SOKOLOV, Todor, YORDANOV VLADIMIROV, Borislav, DIMITROVA APOSTOLOVA, Margarita, MARINOV KREMENSKY, Ivo
Published in Journal of inherited metabolic disease (2011)
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Published in Journal of inherited metabolic disease (2011)
Journal Article
Localization of the Gene Causing Autosomal Dominant Osteopetrosis Type I to Chromosome 11q12‐13
Van Hul, Els, Gram, Jeppe, Bollerslev, Jens, Van Wesenbeeck, Liesbeth, Mathysen, Danny, Andersen, Poul Erik, Vanhoenacker, Filip, Van Hul, Wim
Published in Journal of bone and mineral research (01.06.2002)
Published in Journal of bone and mineral research (01.06.2002)
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Journal Article
Positional Cloning of a Gene Involved in Hereditary Multiple Exostoses
Wuyts, Wim, Van Hul, Wim, Wauters, Jan, Nemtsova, Marina, Reyniers, Edwin, Van Hul, Els, De Boulle, Kristel, de Vries, Bert B. A., Hendrickx, Jan, Herrygers, Ilde, Bossuyt, Paul, Balemans, Wendy, Fransen, Erik, Vits, Lieve, Coucke, Paul, Nowak, Norma J., Shows, Thomas B., Mallet, Laurence, van den Ouweland, Ans M. W., McGaughran, Julie, Halley, Dicky J. J., Willems, Patrick J.
Published in Human molecular genetics (01.10.1996)
Published in Human molecular genetics (01.10.1996)
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Journal Article
Localisation of the gene causing diaphyseal dysplasia Camurati-Engelmann to chromosome 19q13
Janssens, Katrien, Gershoni-Baruch, Ruth, Van Hul, Els, Brik, Riva, Guañabens, Nuria, Migone, Nicola, Verbruggen, Leon A, Ralston, Stuart H, Bonduelle, Maryse, Van Maldergem, Lionel, Vanhoenacker, Filip, Van Hul, Wim
Published in Journal of medical genetics (01.04.2000)
Published in Journal of medical genetics (01.04.2000)
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Journal Article
Albers-Schonberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7chloride channel gene
Cleiren, Erna, Benichou, Olivier, Els Van Hul, Gram, Jeppe, Bollerslev, Jens, Singer, Frederick R, Beaverson, Katherine, Aledo, Alexander, Whyte, Michael P, Yoneyama, Tatsuo, Marie-Christine deVernejoul, Wim Van Hul
Published in Human molecular genetics (01.12.2001)
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Published in Human molecular genetics (01.12.2001)
Journal Article
Exclusion of the chromosomal 1p21 region in a large pedigree with a phenotypic variant of type II autosomal dominant osteopetrosis
Bénichou, Olivier David, Van Hul, Els, Van Hul, Wim, de Vernejoul, Marie-Christine
Published in Joint, bone, spine : revue du rhumatisme (2001)
Published in Joint, bone, spine : revue du rhumatisme (2001)
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Journal Article
Exclusion de la région p21 du chromosome 1 dans une variante phénotypique d’ostéopétrose autosomique dominante de type II (ADO II)
Bénichou, Olivier, Van Hul, Els, Van Hul, Wim, de Vernejoul, Marie-Chrisine
Published in Revue du rhumatisme (Ed. française : 1993) (01.07.2001)
Published in Revue du rhumatisme (Ed. française : 1993) (01.07.2001)
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