Bert Callewaert

Bert Callewaert

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Bert Callewaert

Bert Callewaert

Publications by authors named "Bert Callewaert"

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Disproportion and dysmorphism in an adult Belgian population with Turner syndrome: risk factors for chronic diseases?

Acta Clin Belg 2019 Apr 26:1-9. Epub 2019 Apr 26.

b UZ Gent Turner Clinic, Department of endocrinology , University hospital Ghent , Ghent , Belgium.

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http://dx.doi.org/10.1080/17843286.2019.1606761DOI Listing
April 2019

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.

Genet Med 2018 09 4;20(9):965-975. Epub 2018 Jan 4.

Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.

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http://www.nature.com/articles/gim2017221
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http://dx.doi.org/10.1038/gim.2017.221DOI Listing
September 2018

Diagnosis of multiple endocrine neoplasia type 2B and management of its ocular features.

Ophthalmic Genet 2018 04 28;39(2):268-270. Epub 2017 Nov 28.

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

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http://dx.doi.org/10.1080/13816810.2017.1408849DOI Listing
April 2018

Ophthalmic findings in patients with arterial tortuosity syndrome and carriers: A case series.

Ophthalmic Genet 2018 Jan-Feb;39(1):29-34. Epub 2017 Jul 20.

a Jones Eye Institute, University of Arkansas for Medical Sciences , Little Rock , Arkansas , USA.

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http://dx.doi.org/10.1080/13816810.2017.1335332DOI Listing
March 2018

Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability.

Am J Med Genet A 2017 Nov 8;173(11):3104-3108. Epub 2017 Sep 8.

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

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http://dx.doi.org/10.1002/ajmg.a.38407DOI Listing
November 2017

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

Authors:
Daniela A Braun Jia Rao Geraldine Mollet David Schapiro Marie-Claire Daugeron Weizhen Tan Olivier Gribouval Olivia Boyer Patrick Revy Tilman Jobst-Schwan Johanna Magdalena Schmidt Jennifer A Lawson Denny Schanze Shazia Ashraf Jeremy F P Ullmann Charlotte A Hoogstraten Nathalie Boddaert Bruno Collinet Gaëlle Martin Dominique Liger Svjetlana Lovric Monica Furlano I Chiara Guerrera Oraly Sanchez-Ferras Jennifer F Hu Anne-Claire Boschat Sylvia Sanquer Björn Menten Sarah Vergult Nina De Rocker Merlin Airik Tobias Hermle Shirlee Shril Eugen Widmeier Heon Yung Gee Won-Il Choi Carolin E Sadowski Werner L Pabst Jillian K Warejko Ankana Daga Tamara Basta Verena Matejas Karin Scharmann Sandra D Kienast Babak Behnam Brendan Beeson Amber Begtrup Malcolm Bruce Gaik-Siew Ch'ng Shuan-Pei Lin Jui-Hsing Chang Chao-Huei Chen Megan T Cho Patrick M Gaffney Patrick E Gipson Chyong-Hsin Hsu Jameela A Kari Yu-Yuan Ke Cathy Kiraly-Borri Wai-Ming Lai Emmanuelle Lemyre Rebecca Okashah Littlejohn Amira Masri Mastaneh Moghtaderi Kazuyuki Nakamura Fatih Ozaltin Marleen Praet Chitra Prasad Agnieszka Prytula Elizabeth R Roeder Patrick Rump Rhonda E Schnur Takashi Shiihara Manish D Sinha Neveen A Soliman Kenza Soulami David A Sweetser Wen-Hui Tsai Jeng-Daw Tsai Rezan Topaloglu Udo Vester David H Viskochil Nithiwat Vatanavicharn Jessica L Waxler Klaas J Wierenga Matthias T F Wolf Sik-Nin Wong Sebastian A Leidel Gessica Truglio Peter C Dedon Annapurna Poduri Shrikant Mane Richard P Lifton Maxime Bouchard Peter Kannu David Chitayat Daniella Magen Bert Callewaert Herman van Tilbeurgh Martin Zenker Corinne Antignac Friedhelm Hildebrandt

Nat Genet 2017 Oct 14;49(10):1529-1538. Epub 2017 Aug 14.

Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

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http://www.nature.com/doifinder/10.1038/ng.3933
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http://dx.doi.org/10.1038/ng.3933DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5819591PMC
October 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

Fibromuscular dysplasia - results of a multicentre study in Flanders.

Vasa 2017 May 3;46(3):211-218. Epub 2017 Feb 3.

9 Department of Cardiac and Vascular Diseases, Ghent University Hospital, UZ Ghent, Ghent, Belgium.

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http://dx.doi.org/10.1024/0301-1526/a000613DOI Listing
May 2017

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

Authors:
Claire Redin Harrison Brand Ryan L Collins Tammy Kammin Elyse Mitchell Jennelle C Hodge Carrie Hanscom Vamsee Pillalamarri Catarina M Seabra Mary-Alice Abbott Omar A Abdul-Rahman Erika Aberg Rhett Adley Sofia L Alcaraz-Estrada Fowzan S Alkuraya Yu An Mary-Anne Anderson Caroline Antolik Kwame Anyane-Yeboa Joan F Atkin Tina Bartell Jonathan A Bernstein Elizabeth Beyer Ian Blumenthal Ernie M H F Bongers Eva H Brilstra Chester W Brown Hennie T Brüggenwirth Bert Callewaert Colby Chiang Ken Corning Helen Cox Edwin Cuppen Benjamin B Currall Tom Cushing Dezso David Matthew A Deardorff Annelies Dheedene Marc D'Hooghe Bert B A de Vries Dawn L Earl Heather L Ferguson Heather Fisher David R FitzPatrick Pamela Gerrol Daniela Giachino Joseph T Glessner Troy Gliem Margo Grady Brett H Graham Cristin Griffis Karen W Gripp Andrea L Gropman Andrea Hanson-Kahn David J Harris Mark A Hayden Rosamund Hill Ron Hochstenbach Jodi D Hoffman Robert J Hopkin Monika W Hubshman A Micheil Innes Mira Irons Melita Irving Jessie C Jacobsen Sandra Janssens Tamison Jewett John P Johnson Marjolijn C Jongmans Stephen G Kahler David A Koolen Jerome Korzelius Peter M Kroisel Yves Lacassie William Lawless Emmanuelle Lemyre Kathleen Leppig Alex V Levin Haibo Li Hong Li Eric C Liao Cynthia Lim Edward J Lose Diane Lucente Michael J Macera Poornima Manavalan Giorgia Mandrile Carlo L Marcelis Lauren Margolin Tamara Mason Diane Masser-Frye Michael W McClellan Cinthya J Zepeda Mendoza Björn Menten Sjors Middelkamp Liya R Mikami Emily Moe Shehla Mohammed Tarja Mononen Megan E Mortenson Graciela Moya Aggie W Nieuwint Zehra Ordulu Sandhya Parkash Susan P Pauker Shahrin Pereira Danielle Perrin Katy Phelan Raul E Piña Aguilar Pino J Poddighe Giulia Pregno Salmo Raskin Linda Reis William Rhead Debra Rita Ivo Renkens Filip Roelens Jayla Ruliera Patrick Rump Samantha L P Schilit Ranad Shaheen Rebecca Sparkes Erica Spiegel Blair Stevens Matthew R Stone Julia Tagoe Joseph V Thakuria Bregje W van Bon Jiddeke van de Kamp Ineke van Der Burgt Ton van Essen Conny M van Ravenswaaij-Arts Markus J van Roosmalen Sarah Vergult Catharina M L Volker-Touw Dorothy P Warburton Matthew J Waterman Susan Wiley Anna Wilson Maria de la Concepcion A Yerena-de Vega Roberto T Zori Brynn Levy Han G Brunner Nicole de Leeuw Wigard P Kloosterman Erik C Thorland Cynthia C Morton James F Gusella Michael E Talkowski

Nat Genet 2017 01 14;49(1):36-45. Epub 2016 Nov 14.

Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/ng.3720DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5307971PMC
January 2017

RIN2 syndrome: Expanding the clinical phenotype.

Am J Med Genet A 2016 09 8;170(9):2408-15. Epub 2016 Jun 8.

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

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http://doi.wiley.com/10.1002/ajmg.a.37789
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.37789DOI Listing
September 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

The Genetics of Soft Connective Tissue Disorders.

Annu Rev Genomics Hum Genet 2015 18;16:229-55. Epub 2015 May 18.

Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium; email:

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http://www.annualreviews.org/doi/10.1146/annurev-genom-09031
Publisher Site
http://dx.doi.org/10.1146/annurev-genom-090314-050039DOI Listing
May 2016

Extensive clinical, hormonal and genetic screening in a large consecutive series of 46,XY neonates and infants with atypical sexual development.

Orphanet J Rare Dis 2014 Dec 14;9:209. Epub 2014 Dec 14.

Department of Pediatric Endocrinology, Ghent University Hospital and Ghent University, Building 3K12D, De Pintelaan 185, 9000, Ghent, Belgium.

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http://dx.doi.org/10.1186/s13023-014-0209-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4271496PMC
December 2014

Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1.

Mol Genet Metab 2014 Aug 21;112(4):310-6. Epub 2014 May 21.

Institut fuer Medizinische Genetik und Humangenetik, Charité-Universitaetsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany; Max-Planck-Institut fuer Molekulare Genetik, FG Development & Disease, Ihnestr. 63-73, 14195 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies, Charité-Universitaetsmedizin Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2014.05.003DOI Listing
August 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

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

Unusual 8p inverted duplication deletion with telomere capture from 8q.

Eur J Med Genet 2009 Jan-Feb;52(1):31-6. Epub 2008 Nov 17.

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

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http://dx.doi.org/10.1016/j.ejmg.2008.10.007DOI Listing
April 2009

Ehlers-Danlos syndromes and Marfan syndrome.

Best Pract Res Clin Rheumatol 2008 Mar;22(1):165-89

Ghent University Hospital, Centre for Medical Genetics, De Pintelaan 185, B-9000 Ghent, Belgium.

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http://dx.doi.org/10.1016/j.berh.2007.12.005DOI Listing
March 2008

Proteinase inhibitors TPCK and TLCK prevent Entamoeba histolytica induced disturbance of tight junctions and microvilli in enteric cell layers in vitro.

Int J Parasitol 2004 Jun;34(7):785-94

Laboratory of Experimental Cancerology, Ghent University Hospital, De Pintelaan 185, B-9000 Ghent, Belgium.

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http://dx.doi.org/10.1016/j.ijpara.2004.03.007DOI Listing
June 2004

Proteolysis of enteric cell villin by Entamoeba histolytica cysteine proteinases.

J Biol Chem 2003 Jun 10;278(25):22650-6. Epub 2003 Apr 10.

Laboratory of Experimental Cancerology, Ghent University Hospital, De Pintelaan 185, B-9000 Ghent, Belgium.

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http://dx.doi.org/10.1074/jbc.M300142200DOI Listing
June 2003