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A. De Paepe
Researcher at Ghent University Hospital
Publications - 95
Citations - 9246
A. De Paepe is an academic researcher from Ghent University Hospital. The author has contributed to research in topics: Ehlers–Danlos syndrome & Marfan syndrome. The author has an hindex of 39, co-authored 94 publications receiving 8833 citations. Previous affiliations of A. De Paepe include Case Western Reserve University.
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Journal ArticleDOI
LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye Development
Yaoqin Gong,R. B. Slee,Naomi Fukai,Georges Rawadi,Sergio Roman-Roman,Anthony M. Reginato,H. W. Wang,Tim Cundy,Francis H. Glorieux,Dorit Lev,M. Zacharin,Konrad Oexle,Jose Marcelino,Wafaa M. Suwairi,Shauna Heeger,G. Sabatakos,Suneel S. Apte,W. N. Adkins,J. Allgrove,M. Arslan-Kirchner,J. A. Batch,Peter Beighton,Graeme C.M. Black,R. G. Boles,L. M. Boon,C. Borrone,Han G. Brunner,G. F. Carle,Bruno Dallapiccola,A. De Paepe,B. Floege,M. L. Halfhide,Barbara Hall,Raoul C.M. Hennekam,Tatsuo Hirose,A. Jans,Harald Jüppner,Chong Ae Kim,K. Keppler-Noreuil,A. Kohlschuetter,Didier Lacombe,M. Lambert,E. Lemyre,T. Letteboer,Leena Peltonen,Rajkumar Ramesar,M. Romanengo,H. Somer,E. Steichen-Gersdorf,Beat Steinmann,Beth A. Sullivan,Andrea Superti-Furga,W. Swoboda,M. J. van den Boogaard,W. Van Hul,Miikka Vikkula,Marcela Votruba,Bernhard Zabel,Teresa Garcia,Roland Baron,Bjorn R. Olsen,Matthew L. Warman +61 more
TL;DR: It is reported that LRP5, encoding the low-density lipoprotein receptor-related protein 5, affects bone mass accrual during growth and is important for the establishment of peak bone mass.
Journal ArticleDOI
Revised diagnostic criteria for the Marfan syndrome.
TL;DR: More stringent requirements for diagnosis of the Marfan syndrome in relatives of an unequivocally affected individual; skeletal involvement as a major criterion if at least 4 of 8 typical skeletal manifestations are present; and potential contribution of molecular analysis to the diagnosis of Marfan Syndrome are proposed.
Journal ArticleDOI
International Nosology of Heritable Disorders of Connective Tissue, Berlin, 1986.
Peter Beighton,A. De Paepe,David M. Danks,G. Finidori,T. Gedde-Dahl,R. M. Goodman,Judith G. Hall,David W. Hollister,William A. Horton,Victor A. McKusick,John M. Opitz,F. M. Pope,Reed E. Pyeritz,David L. Rimoin,David Sillence,J. Spranger,Elizabeth Thompson,Petros Tsipouras,Denis Viljoen,Ingrid Winship,I. D. Young,James F. Reynolds +21 more
TL;DR: A group of experts participated in a Workshop held during the 7th International Congress of Human Genetics, Berlin, in September, 1986 as discussed by the authors, where overviews were given of the uses and limitations of nosology, diagnostic criteria (Pyeritz), and practical issues in biochemical and molecular diagnosis.
Journal ArticleDOI
Effect of mutation type and location on clinical outcome in 1,013 probands with marfan syndrome or related phenotypes and FBN1 mutations : An international study
Laurence Faivre,Gwenaëlle Collod-Béroud,Gwenaëlle Collod-Béroud,Bart Loeys,Anne H. Child,Christine Binquet,Elodie Gautier,Bert Callewaert,Eloisa Arbustini,Kenneth H. Mayer,Mine Arslan-Kirchner,A Kiotsekoglou,P Comeglio,Nicola Marziliano,Hal Dietz,Dorothy Halliday,Christophe Béroud,Christophe Béroud,Claire Bonithon-Kopp,Mireille Claustres,Christine Muti,H. Plauchu,Peter N. Robinson,Lesley C. Adès,Andrew Biggin,B. Benetts,Maggie Brett,Katherine Holman,J. De Backer,Paul Coucke,Uta Francke,A. De Paepe,Guillaume Jondeau,Catherine Boileau +33 more
TL;DR: In this paper, the authors investigated the correlation between the fibrillin-1 (FBN1) genotype and the nature and severity of the clinical phenotype, including skeletal, cardiovascular, ophthalmologic, skin, pulmonary, and dural.
Journal ArticleDOI
Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports
Björn Menten,N Maas,Bernard Thienpont,Karen Buysse,Jo Vandesompele,C Melotte,T. De Ravel,S Van Vooren,Irina Balikova,L. Backx,Sophie Janssens,A. De Paepe,B. De Moor,Yves Moreau,Peter Marynen,J. P. Fryns,Geert Mortier,K Devriendt,Franki Speleman,Joris Vermeesch +19 more
TL;DR: Array CGH should be considered an essential aspect of the genetic analysis of patients with MCA/MR, and in the present study three patients were mosaic for a structural chromosome rearrangement, showing that array CGH allows detection of low grade mosaicisims.