Zobrazeno 1 - 10
of 143
pro vyhledávání: '"Wendy Balemans"'
Autor:
Frederik G. Dikkers, Wendy Balemans, Neveen A. T. Hamdy, W. Van Hul, Antonius L.J.J. Bronckers, Herman Hamersma, Pancras C.W. Hogendoorn, Clemens W.G.M. Löwik, R. L. Van Bezooijen, R. A. Gortzak, Socrates E. Papapoulos, L. van der Wee-Pals, H. J. Oostenbroek
Publikováno v:
Journal of dental research
Journal of Dental Research, 88(6), 569-574. SAGE Publications Inc.
van Bezooijen, R L, Bronckers, A L, Gortzak, R A, Hogendoorn, P C W, van der Wee-Pals, L, Balemans, W, Oostenbroek, H J, Van Hul, W, Hamersma, H, Dikkers, F G, Hamdy, N A T, Papapoulos, S E & Löwik, C W G M 2009, ' Sclerostin in mineralized matrices and van Buchem disease ', Journal of Dental Research, vol. 88, no. 6, pp. 569-574 . https://doi.org/10.1177/0022034509338340
Journal of Dental Research, 88(6), 569-574. SAGE Publications Inc.
van Bezooijen, R L, Bronckers, A L, Gortzak, R A, Hogendoorn, P C W, van der Wee-Pals, L, Balemans, W, Oostenbroek, H J, Van Hul, W, Hamersma, H, Dikkers, F G, Hamdy, N A T, Papapoulos, S E & Löwik, C W G M 2009, ' Sclerostin in mineralized matrices and van Buchem disease ', Journal of Dental Research, vol. 88, no. 6, pp. 569-574 . https://doi.org/10.1177/0022034509338340
Sclerostin is an inhibitor of bone formation expressed by osteocytes. We hypothesized that sclerostin is expressed by cells of the same origin and also embedded within mineralized matrices. In this study, we analyzed (a) sclerostin expression using i
Autor:
Wendy Balemans, Wim Van Hul
Publikováno v:
Endocrinology
A few years ago, human genetic studies provided compelling evidence that the low-density lipoprotein receptor-related protein 5 (LRP5) is involved in the regulation of bone homeostasis because pathogenic LRP5 mutations were found in monogenic conditi
Publikováno v:
Calcified tissue international
The osteopetroses are a heterogeneous group of bone remodeling disorders characterized by an increase in bone density due to a defect in osteoclastic bone resorption. In humans, several types can be distinguished and a classification has been made ba
Autor:
Filip Vanhoenacker, Christine Nyght, Wim Van Hul, Wendy Balemans, Jon E. Wergedal, Minea Hellan, David J. Baylink, Johan Tan, Katarina Veskovic, Cesar Libanati
Publikováno v:
The journal of clinical endocrinology and metabolism
Van Buchem disease is an autosomal recessive disease characterized by overgrowth of the skeleton. In a group of Dutch patients the disease is thought to be due to a 52-kb deletion that results in decreased expression of the SOST gene. To further char
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
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
Autor:
L. De Beuckeleer, W. Van Hul, Wendy Balemans, Suvimol Hill, Filip Vanhoenacker, A. M. De Schepper, G. J. Tan
Publikováno v:
European radiology
Although knowledge of basic genetics in the field of sclerosing bone dysplasias is progressing, the radiologist still plays a pivotal role in the diagnosis of this relatively poorly understood group of disorders. Based on a target site approach, thes
Autor:
Lisbeth Tranebjärg, Bjorn Solem, Paul Van de Heyning, Sai Prasad, Wendy Balemans, Kristien Verhoeven, Guy Van Camp, Isabelle Schatteman, Frank De Clau, Toril Fagerheim, Richard J.H. Smith, M. Verstreken, Sigrid Wayne
Publikováno v:
Human genetics
DFNA10 originally was mapped to the long arm of chromosome 6 in a large American family segregating for autosomal dominant progressive nonsyndromic hearing impairment. By extending this American family, we have reduced the original DFNA10 candidate r
Autor:
Wim Van Hul, Patrick Willems, Suvimol Hill, Wendy Balemans, Cristiane Freire Alves, Frederik G. Dikkers, Constantine A. Stratakis, Filip Vanhoenacker, Jenneke van den Ende, AF Paes-Alves, Neli de Almeida-Melo
Publikováno v:
American Journal of Human Genetics, 64(6), 1661-1669. CELL PRESS
The American journal of human genetics
Repositório Institucional da UFBA
Universidade Federal da Bahia (UFBA)
instacron:UFBA
The American journal of human genetics
Repositório Institucional da UFBA
Universidade Federal da Bahia (UFBA)
instacron:UFBA
Texto completo. Acesso restrito. p. 1661–1669 Submitted by Santiago Fabio (fabio.ssantiago@hotmail.com) on 2013-07-31T18:06:01Z No. of bitstreams: 1 111111111a.pdf: 683501 bytes, checksum: 978acc94ebde8e6074df25c384a75ff8 (MD5) Approved for entry i
Autor:
Frank N T Monsour, Wim Van Hul, Gary Walton, Anthony Lynham, Martin D. Batstone, Wendy Balemans
Publikováno v:
Journal of oral and maxillofacial surgery
a c d D enetic disorders of bone homeostasis are uncomon; however, knowledge of their clinical features nd management are important for the maxillofacial urgeon. A variety of genetic abnormalities may give ise to excessive bone. The pathogenic mechan
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
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