Zobrazeno 1 - 10 of 54 pro vyhledávání: '"E, Van Hul"'
1
Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease
Autor: Martin Ebeling, C Lacza, Klaus Lindpaintner, P Hildering, Wim Wuyts, M Dioszegi, B Vickery, Patrick Willems, Wendy Balemans, Dorothee Foernzler, E Van Hul, W. Van Hul, N Patel, Jbgm Verheij, Frederik G. Dikkers
Publikováno v: JOURNAL OF MEDICAL GENETICS, 39(2), 91-97. BMJ PUBLISHING GROUP
Journal of medical genetics
Van Buchem disease is an autosomal recessive skeletal dysplasia characterised by generalised bone overgrowth, predominantly in the skull and mandible. Clinical complications including facial nerve palsy, optic atrophy, and impaired hearing occur in m
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a90e42c64ee715f5e021c0ef0a7b47b6
https://doi.org/10.1136/jmg.39.2.91
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2
Localization of the gene for X-linked calvarial hyperostosis to chromosome Xq27.3-Xqter
Autor: Vere Borra, Ellen Steenackers, E Van Hul, F. de Freitas, I. Glass, W. Van Hul
Publikováno v: Bone
X-linked calvarial hyperostosis is a rare disorder characterized by isolated calvarial thickening. Symptoms are prominent frontoparietal bones, a flat nasal root and a short upturned nose, a high forehead with ridging of the metopic and sagittal sutu
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4408fdc3548eb928f04108f77c3a875
https://hdl.handle.net/10067/1288940151162165141
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3
Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia
Autor: S. Bahabri, Andrea Superti-Furga, Jamil Al-Alami, J K Herd, W. Van Hul, Jean Roudier, H Rezai-Delui, M. Le Merrer, Wafaa M. Suwairi, J R Hurvitz, D Holderbaum, Hatem El-Shanti, Richard M. Pauli, Eric Legius, E Van Hul, Matthew L. Warman
Publikováno v: Nature genetics
Members of the CCN (for CTGF, cyr61/cef10, nov) gene family encode cysteine-rich secreted proteins with roles in cell growth and differentiation1. Cell-specific and tissue-specific differences in the expression and function of different CCN family me
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e342bc514bf910e0789dfac790954430
https://doi.org/10.1038/12699
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4
Positional cloning of a gene involved in hereditary multiple exostoses
Autor: P. Bossuyt, A. M. W. Van Den Ouweland, D. J. J. Halley, W. Van Hul, L Vits, Jan Wauters, K. De Boulle, Paul Coucke, M. Nemtsova, Wim Wuyts, P. J. Willems, Thomas B. Shows, Edwin Reyniers, Norma J. Nowak, B. B. A. De Vries, L. Mallet, Wendy Balemans, Julie McGaughran, I. Herrygers, E Van Hul, Jan Hendrickx, Erik Fransen
Publikováno v: Human molecular genetics
Scopus-Elsevier
Hereditary multiple exostosis (EXT) is an autosomal dominant condition mainly characterized by the presence of multiple exostoses on the long bones. These exostoses are benign cartilaginous tumors (enchondromata). Three different EXT loci on chromoso
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::214367ee36871099d37f2605314814e0
https://doi.org/10.1093/hmg/5.10.1547
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6
The facio-audio-symphalangism syndrome in a four generation family with a nonsense mutation in the NOG-gene
Autor: J J, van den Ende, P, Mattelaer, F, Declau, F, Vanhoenacker, J, Claes, E, Van Hul, E, Baten
Publikováno v: Clinical dysmorphology. 14(2)
We report a four generation family with features of the facio-audio-symphalangism syndrome. This condition is characterized by proximal symphalangism, conductive hearing loss due to stapes fixation and a distinctive facies. A novel nonsense mutation
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::e7320f7619d150afccca6cee55174709
https://pubmed.ncbi.nlm.nih.gov/15770128
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7
The facio-audio-symphalangism syndrome in a four generation family with a nonsense mutation in the NOG-gene
Autor: E. Baten, J.J. van den Ende, Frank Declau, Filip Vanhoenacker, P. Mattelaer, E Van Hul, J Claes
Publikováno v: Clinical dysmorphology
We report a four generation family with features of the facio-audio-symphalangism syndrome. This condition is characterized by proximal symphalangism, conductive hearing loss due to stapes fixation and a distinctive facies. A novel nonsense mutation
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff353efc78763ad85c8932b0db8027f9
https://hdl.handle.net/10067/516100151162165141
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8
Localisation of the gene causing diaphyseal dysplasia Camurati-Engelmann disease to chromosome 19q13
Autor: L. Van Maldergem, Mary-Louise Bonduelle, Katrien Janssens, R. Gershoni-Baruch, R. Brik, W. Van Hul, Stuart H. Ralston, Núria Guañabens, Filip Vanhoenacker, Leon Verbruggen, N. Migone, E Van Hul
Publikováno v: Journal of medical genetics
Vrije Universiteit Brussel
Camurati-Engelmann disease, progressive diaphyseal dysplasia, or diaphyseal dysplasia Camurati-Engelmann is a rare, autosomal dominantly inherited bone disease, characterised by progressive cortical expansion and sclerosis mainly affecting the diaphy
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91b1a6a49be25b56461d2c7c21041116
https://hdl.handle.net/10067/290610151162165141
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10
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