Publications by authors named "Anne De Paepe"

97Publications

VEGFA variants as prognostic markers for the retinopathy in pseudoxanthoma elasticum.

Clin Genet 2020 Jul 10;98(1):74-79. Epub 2020 May 10.

Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.

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http://dx.doi.org/10.1111/cge.13751DOI Listing
July 2020

Bi-allelic AEBP1 mutations in two patients with Ehlers-Danlos syndrome.

Hum Mol Genet 2019 06;28(11):1853-1864

Center for Medical Genetics, Department of Biomolecular Medicine, Ghent University Hospital, Ghent, Belgium.

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http://dx.doi.org/10.1093/hmg/ddz024DOI Listing
June 2019

A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfecta.

Hum Mol Genet 2019 06;28(11):1801-1809

Center for Medical Genetics Ghent, Ghent University Hospital, Department of Biomolecular Medicine, Ghent, Belgium.

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http://dx.doi.org/10.1093/hmg/ddz017DOI Listing
June 2019

Osteogenesis imperfecta.

Nat Rev Dis Primers 2017 Aug 18;3:17052. Epub 2017 Aug 18.

Children's Hospital, University of Cologne, Cologne, Germany.

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http://dx.doi.org/10.1038/nrdp.2017.52DOI Listing
August 2017

Pre- and post-testing counseling considerations for the provision of expanded carrier screening: exploration of European geneticists' views.

BMC Med Ethics 2017 Aug 1;18(1):46. Epub 2017 Aug 1.

Centre for Biomedical Ethics and Law, Department of Public Health and Primary Care, KU Leuven - University of Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1186/s12910-017-0206-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5539885PMC
August 2017

A novel case of autosomal dominant cutis laxa in a consanguineous family: report and literature review.

Clin Dysmorphol 2017 Jul;26(3):142-147

aDepartment of Medical Genetics, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey bCenter for Medical Genetics, Ghent University Hospital, Ghent, Belgium.

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http://dx.doi.org/10.1097/MCD.0000000000000179DOI Listing
July 2017

Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome.

Am J Med Genet A 2017 Apr 6;173(4):1047-1050. Epub 2017 Mar 6.

Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.38135DOI Listing
April 2017

Attitudes of European Geneticists Regarding Expanded Carrier Screening.

J Obstet Gynecol Neonatal Nurs 2017 Jan - Feb;46(1):63-71. Epub 2016 Nov 19.

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http://dx.doi.org/10.1016/j.jogn.2016.08.012DOI Listing
February 2018

7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephaly.

Eur J Med Genet 2016 Oct 12;59(10):502-6. Epub 2016 Sep 12.

Tokyo Women's Medical University Institute for Integrated Medical Sciences, Tokyo, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2016.09.008DOI Listing
October 2016

Orthostatic intolerance and fatigue in the hypermobility type of Ehlers-Danlos Syndrome.

Rheumatology (Oxford) 2016 08 18;55(8):1412-20. Epub 2016 Apr 18.

Centre for Medical Genetics, Ghent University Hospital.

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http://dx.doi.org/10.1093/rheumatology/kew032DOI Listing
August 2016

Ehlers-Danlos Syndrome, Hypermobility Type, Is Linked to Chromosome 8p22-8p21.1 in an Extended Belgian Family.

Dis Markers 2015 4;2015:828970. Epub 2015 Oct 4.

Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium.

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http://dx.doi.org/10.1155/2015/828970DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4609397PMC
July 2016

Marfan Syndrome and Related Heritable Thoracic Aortic Aneurysms and Dissections.

Curr Pharm Des 2015 ;21(28):4061-75

Department of Cardiology and Medical Genetics, University Hospital Ghent, Belgium, De Pintelaan 185, 9000 Ghent, Belgium.

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http://dx.doi.org/10.2174/1381612821666150826093152DOI Listing
July 2016

Attitudes of cystic fibrosis patients and parents toward carrier screening and related reproductive issues.

Eur J Hum Genet 2016 Apr 29;24(4):506-12. Epub 2015 Jul 29.

Center for Biomedical Ethics and Law, Department of Public Health and Primary Care, KU Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1038/ejhg.2015.160DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4929879PMC
April 2016

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.

Authors:
Timothy R Rebbeck Nandita Mitra Fei Wan Olga M Sinilnikova Sue Healey Lesley McGuffog Sylvie Mazoyer Georgia Chenevix-Trench Douglas F Easton Antonis C Antoniou Katherine L Nathanson Yael Laitman Anya Kushnir Shani Paluch-Shimon Raanan Berger Jamal Zidan Eitan Friedman Hans Ehrencrona Marie Stenmark-Askmalm Zakaria Einbeigi Niklas Loman Katja Harbst Johanna Rantala Beatrice Melin Dezheng Huo Olufunmilayo I Olopade Joyce Seldon Patricia A Ganz Robert L Nussbaum Salina B Chan Kunle Odunsi Simon A Gayther Susan M Domchek Banu K Arun Karen H Lu Gillian Mitchell Beth Y Karlan Christine Walsh Jenny Lester Andrew K Godwin Harsh Pathak Eric Ross Mary B Daly Alice S Whittemore Esther M John Alexander Miron Mary Beth Terry Wendy K Chung David E Goldgar Saundra S Buys Ramunas Janavicius Laima Tihomirova Nadine Tung Cecilia M Dorfling Elizabeth J van Rensburg Linda Steele Susan L Neuhausen Yuan Chun Ding Bent Ejlertsen Anne-Marie Gerdes Thomas v O Hansen Teresa Ramón y Cajal Ana Osorio Javier Benitez Javier Godino Maria-Isabel Tejada Mercedes Duran Jeffrey N Weitzel Kristie A Bobolis Sharon R Sand Annette Fontaine Antonella Savarese Barbara Pasini Bernard Peissel Bernardo Bonanni Daniela Zaffaroni Francesca Vignolo-Lutati Giulietta Scuvera Giuseppe Giannini Loris Bernard Maurizio Genuardi Paolo Radice Riccardo Dolcetti Siranoush Manoukian Valeria Pensotti Viviana Gismondi Drakoulis Yannoukakos Florentia Fostira Judy Garber Diana Torres Muhammad Usman Rashid Ute Hamann Susan Peock Debra Frost Radka Platte D Gareth Evans Rosalind Eeles Rosemarie Davidson Diana Eccles Trevor Cole Jackie Cook Carole Brewer Shirley Hodgson Patrick J Morrison Lisa Walker Mary E Porteous M John Kennedy Louise Izatt Julian Adlard Alan Donaldson Steve Ellis Priyanka Sharma Rita Katharina Schmutzler Barbara Wappenschmidt Alexandra Becker Kerstin Rhiem Eric Hahnen Christoph Engel Alfons Meindl Stefanie Engert Nina Ditsch Norbert Arnold Hans Jörg Plendl Christoph Mundhenke Dieter Niederacher Markus Fleisch Christian Sutter C R Bartram Nicola Dikow Shan Wang-Gohrke Dorothea Gadzicki Doris Steinemann Karin Kast Marit Beer Raymonda Varon-Mateeva Andrea Gehrig Bernhard H Weber Dominique Stoppa-Lyonnet Olga M Sinilnikova Sylvie Mazoyer Claude Houdayer Muriel Belotti Marion Gauthier-Villars Francesca Damiola Nadia Boutry-Kryza Christine Lasset Hagay Sobol Jean-Philippe Peyrat Danièle Muller Jean-Pierre Fricker Marie-Agnès Collonge-Rame Isabelle Mortemousque Catherine Nogues Etienne Rouleau Claudine Isaacs Anne De Paepe Bruce Poppe Kathleen Claes Kim De Leeneer Marion Piedmonte Gustavo Rodriguez Katie Wakely John Boggess Stephanie V Blank Jack Basil Masoud Azodi Kelly-Anne Phillips Trinidad Caldes Miguel de la Hoya Atocha Romero Heli Nevanlinna Kristiina Aittomäki Annemarie H van der Hout Frans B L Hogervorst Senno Verhoef J Margriet Collée Caroline Seynaeve Jan C Oosterwijk Johannes J P Gille Juul T Wijnen Encarna B Gómez Garcia Carolien M Kets Margreet G E M Ausems Cora M Aalfs Peter Devilee Arjen R Mensenkamp Ava Kwong Edith Olah Janos Papp Orland Diez Conxi Lazaro Esther Darder Ignacio Blanco Mónica Salinas Anna Jakubowska Jan Lubinski Jacek Gronwald Katarzyna Jaworska-Bieniek Katarzyna Durda Grzegorz Sukiennicki Tomasz Huzarski Tomasz Byrski Cezary Cybulski Aleksandra Toloczko-Grabarek Elżbieta Złowocka-Perłowska Janusz Menkiszak Adalgeir Arason Rosa B Barkardottir Jacques Simard Rachel Laframboise Marco Montagna Simona Agata Elisa Alducci Ana Peixoto Manuel R Teixeira Amanda B Spurdle Min Hyuk Lee Sue K Park Sung-Won Kim Tara M Friebel Fergus J Couch Noralane M Lindor Vernon S Pankratz Lucia Guidugli Xianshu Wang Marc Tischkowitz Lenka Foretova Joseph Vijai Kenneth Offit Mark Robson Rohini Rau-Murthy Noah Kauff Anneliese Fink-Retter Christian F Singer Christine Rappaport Daphne Gschwantler-Kaulich Georg Pfeiler Muy-Kheng Tea Andreas Berger Mark H Greene Phuong L Mai Evgeny N Imyanitov Amanda Ewart Toland Leigha Senter Anders Bojesen Inge Sokilde Pedersen Anne-Bine Skytte Lone Sunde Mads Thomassen Sanne Traasdahl Moeller Torben A Kruse Uffe Birk Jensen Maria Adelaide Caligo Paolo Aretini Soo-Hwang Teo Christina G Selkirk Peter J Hulick Irene Andrulis

JAMA 2015 Apr;313(13):1347-61

Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital and University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1001/jama.2014.5985DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4537700PMC
April 2015

RNF216 mutations as a novel cause of autosomal recessive Huntington-like disorder.

Neurology 2015 Apr 3;84(17):1760-6. Epub 2015 Apr 3.

From the Department of Neurology (P.S., B.D.) and the Center for Medical Genetics (T.V.D., W.S., A.W., A.D.P., P.J.C., B.D.), Ghent University Hospital, Belgium; and Inserm U1172, Centre de Recherches J-P Aubert (B.S.), and Inserm U1167, Institut Pasteur de Lille (B.D.), Université de Lille, France.

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http://www.neurology.org/content/84/17/1760.full.pdf
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000152
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http://dx.doi.org/10.1212/WNL.0000000000001521DOI Listing
April 2015

Attitudes of cystic fibrosis patients and their parents towards direct-to-consumer genetic testing for carrier status.

Per Med 2015 Mar;12(2):99-107

Centre for Biomedical Ethics & Law, Department of Public Health and Primary Care, University of Leuven, Kapucijnenvoer 35 BOX 7001 3000 Leuven, Belgium.

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http://dx.doi.org/10.2217/pme.14.75DOI Listing
March 2015

Efficiency of exome sequencing for the molecular diagnosis of pseudoxanthoma elasticum.

J Invest Dermatol 2015 Apr 29;135(4):992-998. Epub 2014 Sep 29.

Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium. Electronic address:

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http://dx.doi.org/10.1038/jid.2014.421DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4378258PMC
April 2015

Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing.

Mol Genet Metab 2014 Nov 8;113(3):230-5. Epub 2014 Sep 8.

Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B-9000 Ghent, Belgium. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10967192140027
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http://dx.doi.org/10.1016/j.ymgme.2014.09.001DOI Listing
November 2014

Type I procollagen C-propeptide defects: study of genotype-phenotype correlation and predictive role of crystal structure.

Hum Mutat 2014 Nov 18;35(11):1330-41. Epub 2014 Oct 18.

Center for Medical Genetics, Ghent University Hospital, 9000, Ghent, Belgium.

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http://dx.doi.org/10.1002/humu.22677DOI Listing
November 2014

Low tendon stiffness and abnormal ultrastructure distinguish classic Ehlers-Danlos syndrome from benign joint hypermobility syndrome in patients.

FASEB J 2014 Nov 13;28(11):4668-76. Epub 2014 Aug 13.

Institute of Sports Medicine, Department of Orthopaedic Surgery, and Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark;

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http://www.fasebj.org/doi/10.1096/fj.14-249656
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http://dx.doi.org/10.1096/fj.14-249656DOI Listing
November 2014

Reference values for echocardiographic assessment of the diameter of the aortic root and ascending aorta spanning all age categories.

Am J Cardiol 2014 Sep 3;114(6):914-20. Epub 2014 Jul 3.

Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium; Department of Cardiology, Ghent University Hospital, Ghent, Belgium.

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https://linkinghub.elsevier.com/retrieve/pii/S00029149140137
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http://dx.doi.org/10.1016/j.amjcard.2014.06.024DOI Listing
September 2014

An Exploratory Case-Control Study on the Impact of IL-1 Gene Polymorphisms on Early Implant Failure.

Clin Implant Dent Relat Res 2016 Apr 26;18(2):234-40. Epub 2014 Jul 26.

Periodontology and Oral Implantology, Dental School, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium.

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http://dx.doi.org/10.1111/cid.12237DOI Listing
April 2016

Autonomic symptom burden in the hypermobility type of Ehlers-Danlos syndrome: a comparative study with two other EDS types, fibromyalgia, and healthy controls.

Semin Arthritis Rheum 2014 Dec 14;44(3):353-61. Epub 2014 May 14.

Department of Family Medicine and Primary Health Care, Ghent University, Ghent, Belgium.

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http://dx.doi.org/10.1016/j.semarthrit.2014.05.013DOI Listing
December 2014

Imaging findings in a distinct lethal inherited arteriopathy syndrome associated with a novel mutation in the FBLN4 gene.

Eur Radiol 2014 Aug 17;24(8):1742-8. Epub 2014 May 17.

Department of Radiology, Amrita Institute of Medical Sciences, AIMS (PO), Ernakulam, India, 682041,

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http://dx.doi.org/10.1007/s00330-014-3205-yDOI Listing
August 2014

Perturbation of specific pro-mineralizing signalling pathways in human and murine pseudoxanthoma elasticum.

Orphanet J Rare Dis 2014 Apr 29;9:66. Epub 2014 Apr 29.

Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.

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http://dx.doi.org/10.1186/1750-1172-9-66DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4022264PMC
April 2014

Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene.

Eur J Med Genet 2014 Apr 6;57(5):230-4. Epub 2014 Mar 6.

Department of Medical Genetics, CHU and University of Liège, Liège, Belgium; Pediatric Department, Clinique de l'Espérance, Liège, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.02.012DOI Listing
April 2014

Dysautonomia and its underlying mechanisms in the hypermobility type of Ehlers-Danlos syndrome.

Semin Arthritis Rheum 2014 Aug 30;44(1):93-100. Epub 2013 Dec 30.

Department of Rehabilitation Sciences and Physiotherapy, Ghent University, Artevelde University College, De Pintelaan 185, 1B3, 9000 Ghent, Belgium.

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http://dx.doi.org/10.1016/j.semarthrit.2013.12.006DOI Listing
August 2014

The Ehlers-Danlos syndrome.

Adv Exp Med Biol 2014 ;802:129-43

Center for Medical Genetics, Ghent University Hospital, Ghent University, Ghent, Belgium.

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http://dx.doi.org/10.1007/978-94-007-7893-1_9DOI Listing
May 2014

Pharmacologic activation of wild-type p53 by nutlin therapy in childhood cancer.

Cancer Lett 2014 Mar 18;344(2):157-65. Epub 2013 Nov 18.

Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.

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http://dx.doi.org/10.1016/j.canlet.2013.11.002DOI Listing
March 2014

Ehlers-Danlos Syndrome Type VIII: A Rare Cause of Leg Ulcers in Young Patients.

Case Rep Dermatol Med 2013 3;2013:469505. Epub 2013 Oct 3.

Department of Dermatology, Pontchaillou University Hospital, 2 Rue Henri Le Guilloux, 35033 Rennes, France.

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http://downloads.hindawi.com/journals/cridm/2013/469505.pdf
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http://www.hindawi.com/journals/cridm/2013/469505/
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http://dx.doi.org/10.1155/2013/469505DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3809367PMC
November 2013

The ABCC6 transporter: what lessons can be learnt from other ATP-binding cassette transporters?

Front Genet 2013 16;4:203. Epub 2013 Oct 16.

Center for Medical Genetics, Ghent University Hospital Ghent, Belgium.

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http://dx.doi.org/10.3389/fgene.2013.00203DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3797522PMC
October 2013

Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon.

Eur J Hum Genet 2014 Apr 4;22(4):517-21. Epub 2013 Sep 4.

Applied Human Molecular Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Gl. Landevej 7, Glostrup, Denmark.

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http://dx.doi.org/10.1038/ejhg.2013.191DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3953917PMC
April 2014

Genes in thoracic aortic aneurysms/dissections - do they matter?

Ann Cardiothorac Surg 2013 Jan;2(1):73-82

Centre for Medical Genetics, University Hospital Ghent, Belgium; ; Department of Cardiology, University Hospital Ghent, Belgium.

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http://dx.doi.org/10.3978/j.issn.2225-319X.2012.12.01DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3741818PMC
January 2013

Characterization of cardiovascular involvement in pseudoxanthoma elasticum families.

Arterioscler Thromb Vasc Biol 2013 Nov 22;33(11):2646-52. Epub 2013 Aug 22.

From the Center for Medical Genetics (L.C., O.M.V., B.P.L., A.D.P., J.D.B.), Department of Cardiology (T.D.B., J.D.B.), Department of Ophthalmology (B.P.L., J.D.Z.), and Department of Internal Medicine (D.V.), Ghent University Hospital, Ghent, Belgium; and Institute of Biomedical Technology, Ghent University, Ghent, Belgium (B.T., P.S.).

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http://dx.doi.org/10.1161/ATVBAHA.113.301901DOI Listing
November 2013

Second family with the Boston-type craniosynostosis syndrome: novel mutation and expansion of the clinical spectrum.

Am J Med Genet A 2013 Sep 5;161A(9):2352-7. Epub 2013 Aug 5.

Department of Neurosurgery, Ghent University Hospital, Ghent, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.36077DOI Listing
September 2013

Compound heterozygous mutations of the TNXB gene cause primary myopathy.

Neuromuscul Disord 2013 Aug 12;23(8):664-9. Epub 2013 Jun 12.

Centre de référence des Maladies Neuromusculaires, Département de Neurologie, Centre Hospitalier Universitaire d'Angers, France.

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http://dx.doi.org/10.1016/j.nmd.2013.04.009DOI Listing
August 2013

Zebrafish models for ectopic mineralization disorders: practical issues from morpholino design to post-injection observations.

Front Genet 2013 8;4:74. Epub 2013 May 8.

Center for Medical Genetics, Ghent University Hospital Ghent, Belgium ; Department of Genetic Engineering and Biotechnology, Shahjalal University of Science and Technology Sylhet, Bangladesh.

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http://dx.doi.org/10.3389/fgene.2013.00074DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3669896PMC
June 2013

Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity.

Orphanet J Rare Dis 2013 Feb 25;8:36. Epub 2013 Feb 25.

Service de Dermatologie - Centre de référence national des Maladies Génétiques à Expression Cutanée MAGEC, INSERM U781, Hôpital Necker - Enfants Malades, Université Paris V-Descartes, 149, rue de Sèvres 75743 Paris Cedex 15, Paris, France.

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http://dx.doi.org/10.1186/1750-1172-8-36DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3599008PMC
February 2013

Clinical heterogeneity in patients with the hypermobility type of Ehlers-Danlos syndrome.

Res Dev Disabil 2013 Mar 2;34(3):873-81. Epub 2013 Jan 2.

Department of Rehabilitation Sciences and Physiotherapy, Ghent University, Artevelde University College, Ghent, Belgium.

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http://dx.doi.org/10.1016/j.ridd.2012.11.018DOI Listing
March 2013

Multiple aneurysms in a patient with aneurysms-osteoarthritis syndrome.

Ann Thorac Surg 2013 Jan 25;95(1):332-5. Epub 2012 Dec 25.

Department of Thoracic and Vascular Surgery, University Hospital Gent, Gent, Belgium.

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http://dx.doi.org/10.1016/j.athoracsur.2012.05.085DOI Listing
January 2013

Muscle mass, muscle strength, functional performance, and physical impairment in women with the hypermobility type of Ehlers-Danlos syndrome.

Arthritis Care Res (Hoboken) 2012 Oct;64(10):1584-92

Ghent University and Artevelde University College, Ghent, Belgium.

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http://dx.doi.org/10.1002/acr.21726DOI Listing
October 2012

Muscle-tendon tissue properties in the hypermobility type of Ehlers-Danlos syndrome.

Arthritis Care Res (Hoboken) 2012 May;64(5):766-72

Department of Rehabilitation Sciences andPhysiotherapy, Ghent University and Artevelde University College, De Pintelaan 185, Ghent, Belgium.

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http://dx.doi.org/10.1002/acr.21592DOI Listing
May 2012

Histopathology of pseudoxanthoma elasticum and related disorders: histological hallmarks and diagnostic clues.

Scientifica (Cairo) 2012 25;2012:598262. Epub 2012 Jul 25.

Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, 9000 Ghent, Belgium ; Department of Genetic Engineering and Biotechnology, Shahjalal University of Science and Technology, Sylhet 3114, Bangladesh.

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http://dx.doi.org/10.6064/2012/598262DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3820553PMC
November 2013

The genetics of familial adenomatous polyposis (FAP) and MutYH-associated polyposis (MAP).

Acta Gastroenterol Belg 2011 Sep;74(3):421-6

Belgian Polyposis Project, Familial Adenomatous Polyposis Association (FAPA), Brussels.

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September 2011

Atypical presentation of pseudoxanthoma elasticum with abdominal cutis laxa: evidence for a spectrum of ectopic calcification disorders?

Am J Med Genet A 2011 Nov 30;155A(11):2855-9. Epub 2011 Sep 30.

Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.

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http://doi.wiley.com/10.1002/ajmg.a.34264
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http://dx.doi.org/10.1002/ajmg.a.34264DOI Listing
November 2011