Search Results - "Van Hul, Els"

Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia by 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

“…Members of the CCN (for CTGF, cyr61/cef10, nov) gene family encode cysteine-rich secreted proteins with roles in cell growth and differentiation. Cell-specific…”
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Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans by 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

“…This study illustrates that Plekhm1 is an essential protein for bone resorption, as loss-of-function mutations were found to underlie the osteopetrotic…”
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Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST) by 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

“…Sclerosteosis is a progressive sclerosing bone dysplasia with an autosomal recessive mode of inheritance. Radiologically, it is characterized by a generalized…”
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RNA‐Seq detects a SAMD12‐EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas by 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.

“…Background We describe a patient presenting with pachygyria, epilepsy, developmental delay, short stature, failure to thrive, facial dysmorphisms, and multiple…”
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Van Buchem Disease (Hyperostosis Corticalis Generalisata) Maps to Chromosome 17q12-q21 by 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.

“…Van Buchem disease (hyperostosis corticalis generalisata; OMIM 239100) is an autosomal recessive disorder characterized by hyperostosis of the skull, mandible,…”
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Localization of a Gene for Autosomal Dominant Osteopetrosis (Albers-Schönberg Disease) to Chromosome 1p21 by Van Hul, Wim, Bollerslev, Jens, Gram, Jeppe, Van Hul, Els, Wuyts, Wim, Benichou, Olivier, Vanhoenacker, Filip, Willems, Patrick J.

“…Albers-Schönberg disease, the classical form of os-teopetrosis, is an autosomal dominant condition with generalized increased skeletal density due to reduced…”
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Albers-schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the CICN7 chloride channel gene by 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

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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 by Jennes, Ivy, Entius, Mark M, Van Hul, Els, Parra, Alessandro, Sangiorgi, Luca, Wuyts, Wim

“…Multiple osteochondromas (MO) is an autosomal-dominant skeletal disorder characterized by the formation of multiple cartilage-capped protuberances. MO is…”
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Clinical and molecular studies of EXT1/EXT2 in Bulgaria by 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

“…EXT1/EXT2-CDG (Multiple cartilagineous exostoses, hereditary multiple osteochondroma (MO); OMIM 133700/133701) are common defects of O-xylosylglycan…”
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Localization of the Gene Causing Autosomal Dominant Osteopetrosis Type I to Chromosome 11q12‐13 by Van Hul, Els, Gram, Jeppe, Bollerslev, Jens, Van Wesenbeeck, Liesbeth, Mathysen, Danny, Andersen, Poul Erik, Vanhoenacker, Filip, Van Hul, Wim

“…The osteopetroses are a heterogeneous group of genetic conditions characterized by increased bone density due to impaired bone resorption by osteoclasts…”
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Clinical and molecular studies of EXT1/EXT2 in Bulgaria : CDG: an uptdate by 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

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Positional Cloning of a Gene Involved in Hereditary Multiple Exostoses by 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.

“…Hereditary multiple exostosis (EXT) is an autosomal dominant condition mainly characterized by the presence of multiple exostoses on the long bones. These…”
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Localisation of the gene causing diaphyseal dysplasia Camurati-Engelmann to chromosome 19q13 by 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

“…Camurati-Engelmann disease, progressive diaphyseal dysplasia, or diaphyseal dysplasia Camurati-Engelmann is a rare, autosomal dominantly inherited bone…”
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Albers-Schonberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7chloride channel gene by 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

“…Albers-Schonberg disease, or autosomal dominant osteopetrosis, type II (ADO II), is the most common form of osteopetrosis, a group of conditions characterized…”
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Exclusion of the chromosomal 1p21 region in a large pedigree with a phenotypic variant of type II autosomal dominant osteopetrosis by Bénichou, Olivier David, Van Hul, Els, Van Hul, Wim, de Vernejoul, Marie-Christine

“…Purpose. To describe a large family including nine subjects with a mild phenotypic variant of type II autosomal dominant osteopetrosis (ADO II). Methods…”
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Exclusion de la région p21 du chromosome 1 dans une variante phénotypique d’ostéopétrose autosomique dominante de type II (ADO II) by Bénichou, Olivier, Van Hul, Els, Van Hul, Wim, de Vernejoul, Marie-Chrisine

“…Objectif. Décrire une variante légère d’ostéopétrose autosomique dominante de type II (ADO II) au sein d’une famille comportant neuf sujets atteints. Méthodes…”
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