Publications by authors named "Tim Van Damme"

15Publications

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.

Authors:
Tim Van Damme Thatjana Gardeitchik Miski Mohamed Sergio Guerrero-Castillo Peter Freisinger Brecht Guillemyn Ariana Kariminejad Daisy Dalloyaux Sanne van Kraaij Dirk J Lefeber Delfien Syx Wouter Steyaert Riet De Rycke Alexander Hoischen Erik-Jan Kamsteeg Sunnie Y Wong Monique van Scherpenzeel Payman Jamali Ulrich Brandt Leo Nijtmans G Christoph Korenke Brian H Y Chung Christopher C Y Mak Ingrid Hausser Uwe Kornak Björn Fischer-Zirnsak Tim M Strom Thomas Meitinger Yasemin Alanay Gulen E Utine Kai Ching Peter Leung Siavash Ghaderi-Sohi Paul Coucke Sofie Symoens Anne De Paepe Christian Thiel Tobias B Haack Fransiska Malfait Eva Morava Bert Callewaert Ron A Wevers

Am J Hum Genet 2020 08;107(2):374

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August 2020

Hypomorphic zebrafish models mimic the musculoskeletal phenotype of β4GalT7-deficient Ehlers-Danlos syndrome.

Authors:
Sarah Delbaere Tim Van Damme Delfien Syx Sofie Symoens Paul Coucke Andy Willaert Fransiska Malfait

Matrix Biol 2020 07 17;89:59-75. Epub 2019 Dec 17.

Center for Medical Genetics, Department of Biomolecular Medicine, Ghent University and Ghent University Hospital, Ghent, Belgium. Electronic address:

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July 2020

The clinical and mutational spectrum of B3GAT3 linkeropathy: two case reports and literature review.

Authors:
Marlies Colman Tim Van Damme Elisabeth Steichen-Gersdorf Franco Laccone Sheela Nampoothiri Delfien Syx Brecht Guillemyn Sofie Symoens Fransiska Malfait

Orphanet J Rare Dis 2019 06 13;14(1):138. Epub 2019 Jun 13.

Center for Medical Genetics, Ghent University and Ghent University Hospital, 0K5, Corneel Heymanslaan 10, B-9000, Ghent, Belgium.

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June 2019

Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome.

Authors:
Tim Van Damme Xiaomeng Pang Brecht Guillemyn Sandrine Gulberti Delfien Syx Riet De Rycke Olivier Kaye Christine E M de Die-Smulders Rolph Pfundt Ariana Kariminejad Sheela Nampoothiri Geneviève Pierquin Saskia Bulk Austin A Larson Kathryn C Chatfield Marleen Simon Anne Legrand Marion Gerard Sofie Symoens Sylvie Fournel-Gigleux Fransiska Malfait

Hum Mol Genet 2018 10;27(20):3475-3487

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

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October 2018

Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review.

Authors:
Sanne D'hondt Tim Van Damme Fransiska Malfait

Genet Med 2018 06 5;20(6):562-573. Epub 2017 Oct 5.

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

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June 2018

The 2017 international classification of the Ehlers-Danlos syndromes.

Authors:
Fransiska Malfait Clair Francomano Peter Byers John Belmont Britta Berglund James Black Lara Bloom Jessica M Bowen Angela F Brady Nigel P Burrows Marco Castori Helen Cohen Marina Colombi Serwet Demirdas Julie De Backer Anne De Paepe Sylvie Fournel-Gigleux Michael Frank Neeti Ghali Cecilia Giunta Rodney Grahame Alan Hakim Xavier Jeunemaitre Diana Johnson Birgit Juul-Kristensen Ines Kapferer-Seebacher Hanadi Kazkaz Tomoki Kosho Mark E Lavallee Howard Levy Roberto Mendoza-Londono Melanie Pepin F Michael Pope Eyal Reinstein Leema Robert Marianne Rohrbach Lynn Sanders Glenda J Sobey Tim Van Damme Anthony Vandersteen Caroline van Mourik Nicol Voermans Nigel Wheeldon Johannes Zschocke Brad Tinkle

Am J Med Genet C Semin Med Genet 2017 03;175(1):8-26

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March 2017

The Ehlers-Danlos syndromes, rare types.

Authors:
Angela F Brady Serwet Demirdas Sylvie Fournel-Gigleux Neeti Ghali Cecilia Giunta Ines Kapferer-Seebacher Tomoki Kosho Roberto Mendoza-Londono Michael F Pope Marianne Rohrbach Tim Van Damme Anthony Vandersteen Caroline van Mourik Nicol Voermans Johannes Zschocke Fransiska Malfait

Am J Med Genet C Semin Med Genet 2017 03;175(1):70-115

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March 2017

Analysis of chromosomal radiosensitivity of healthy BRCA2 mutation carriers and non-carriers in BRCA families with the G2 micronucleus assay.

Authors:
Annelot Baert Julie Depuydt Tom Van Maerken Bruce Poppe Fransiska Malfait Tim Van Damme Sylvia De Nobele Gianpaolo Perletti Kim De Leeneer Kathleen B M Claes Anne Vral

Oncol Rep 2017 Mar 25;37(3):1379-1386. Epub 2017 Jan 25.

Department of Basic Medical Sciences, Ghent University, B-9000 Ghent, Belgium.

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March 2017

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.

Authors:
Tim Van Damme Thatjana Gardeitchik Miski Mohamed Sergio Guerrero-Castillo Peter Freisinger Brecht Guillemyn Ariana Kariminejad Daisy Dalloyaux Sanne van Kraaij Dirk J Lefeber Delfien Syx Wouter Steyaert Riet De Rycke Alexander Hoischen Erik-Jan Kamsteeg Sunnie Y Wong Monique van Scherpenzeel Payman Jamali Ulrich Brandt Leo Nijtmans G Christoph Korenke Brian H Y Chung Christopher C Y Mak Ingrid Hausser Uwe Kornak Björn Fischer-Zirnsak Tim M Strom Thomas Meitinger Yasemin Alanay Gulen E Utine Peter K C Leung Siavash Ghaderi-Sohi Paul Coucke Sofie Symoens Anne De Paepe Christian Thiel Tobias B Haack Fransiska Malfait Eva Morava Bert Callewaert Ron A Wevers

Am J Hum Genet 2017 02 5;100(2):216-227. Epub 2017 Jan 5.

Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands. Electronic address:

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February 2017

Increased chromosomal radiosensitivity in asymptomatic carriers of a heterozygous BRCA1 mutation.

Authors:
Annelot Baert Julie Depuydt Tom Van Maerken Bruce Poppe Fransiska Malfait Katrien Storm Jenneke van den Ende Tim Van Damme Sylvia De Nobele Gianpaolo Perletti Kim De Leeneer Kathleen B M Claes Anne Vral

Breast Cancer Res 2016 05 17;18(1):52. Epub 2016 May 17.

Department of Basic Medical Sciences, Ghent University, Ghent, Belgium.

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May 2016

Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type.

Authors:
Tim Van Damme Alain Colige Delfien Syx Cecilia Giunta Uschi Lindert Marianne Rohrbach Omid Aryani Yasemin Alanay Pelin Özlem Simsek-Kiper Hester Y Kroes Koen Devriendt Marc Thiry Sofie Symoens Anne De Paepe Fransiska Malfait

Genet Med 2016 09 14;18(9):882-91. Epub 2016 Jan 14.

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

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September 2016

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

Authors:
Patrick Santens Tim Van Damme Wouter Steyaert Andy Willaert Bernard Sablonnière Anne De Paepe Paul J Coucke Bart Dermaut

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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April 2015

Genetic heterogeneity and clinical variability in musculocontractural Ehlers-Danlos syndrome caused by impaired dermatan sulfate biosynthesis.

Authors:
Delfien Syx Tim Van Damme Sofie Symoens Merel C Maiburg Ingrid van de Laar Jenny Morton Mohnish Suri Miguel Del Campo Ingrid Hausser Trinh Hermanns-Lê Anne De Paepe Fransiska Malfait

Hum Mutat 2015 May 6;36(5):535-47. Epub 2015 Apr 6.

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

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May 2015

Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder.

Authors:
Fransiska Malfait Ariana Kariminejad Tim Van Damme Caroline Gauche Delfien Syx Faten Merhi-Soussi Sandrine Gulberti Sofie Symoens Suzanne Vanhauwaert Andy Willaert Bita Bozorgmehr Mohamad Hasan Kariminejad Nazanin Ebrahimiadib Ingrid Hausser Ann Huysseune Sylvie Fournel-Gigleux Anne De Paepe

Am J Hum Genet 2013 Jun 9;92(6):935-45. Epub 2013 May 9.

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

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June 2013

Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa.

Authors:
Bert Callewaert Chi-Ting Su Tim Van Damme Philip Vlummens Fransiska Malfait Olivier Vanakker Bianca Schulz Meghan Mac Neal Elaine C Davis Joseph G H Lee Aicha Salhi Sheila Unger Ketil Heimdal Salome De Almeida Uwe Kornak Harald Gaspar Jean-Luc Bresson Katrina Prescott Maria E Gosendi Sahar Mansour Gérald E Piérard Suneeta Madan-Khetarpal Frank C Sciurba Sofie Symoens Paul J Coucke Lionel Van Maldergem Zsolt Urban Anne De Paepe

Hum Mutat 2013 Jan 13;34(1):111-21. Epub 2012 Aug 13.

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

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January 2013