Paul Coucke

Paul Coucke

UNVERIFIED PROFILE

Are you Paul Coucke?   Register this Author

Register author
Paul Coucke

Paul Coucke

Publications by authors named "Paul Coucke"

Are you Paul Coucke?   Register this Author

99Publications

3103Reads

23Profile Views

A clinical scoring system for congenital contractural arachnodactyly.

Authors:
Ilse Meerschaut Shana De Coninck Wouter Steyaert Angela Barnicoat Allan Bayat Francesco Benedicenti Siren Berland Edward M Blair Jeroen Breckpot Anna de Burca Anne Destrée Sixto García-Miñaúr Andrew J Green Bernadette C Hanna Kathelijn Keymolen Marije Koopmans Damien Lederer Melissa Lees Cheryl Longman Sally Ann Lynch Alison M Male Fiona McKenzie Isabelle Migeotte Ercan Mihci Banu Nur Florence Petit Juliette Piard Frank S Plasschaert Anita Rauch Pascale Ribaï Iratxe Salcedo Pacheco Franco Stanzial Irene Stolte-Dijkstra Irene Valenzuela Vinod Varghese Pradeep C Vasudevan Emma Wakeling Carina Wallgren-Pettersson Paul Coucke Anne De Paepe Daniël De Wolf Sofie Symoens Bert Callewaert

Genet Med 2020 01 18;22(1):124-131. Epub 2019 Jul 18.

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

View Article

Download full-text PDF

 Source
http://www.nature.com/articles/s41436-019-0609-8
Publisher Site
http://dx.doi.org/10.1038/s41436-019-0609-8DOI Listing
January 2020

Nucleic acids enrichment of fungal pathogens to study host-pathogen interactions.

Authors:
Antonio Rodríguez Brecht Guillemyn Paul Coucke Mario Vaneechoutte

Sci Rep 2019 Dec 2;9(1):18037. Epub 2019 Dec 2.

Laboratory Bacteriology Research, Department of Diagnostic Sciences, Faculty of Medicine and Health Sciences, Ghent University, Ghent, 9000, Belgium.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1038/s41598-019-54608-xDOI Listing
December 2019

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 2019 Dec 17. Epub 2019 Dec 17.

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

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1016/j.matbio.2019.12.002DOI Listing
December 2019

Vascular Ehlers-Danlos syndrome in 2 Polish patients: identification of 2 novel COL3A1 gene mutations.

Authors:
Małgorzata Konieczyńska Ewa Wypasek Marek Karpiński Monika Komar Sofie Symoens Paul J Coucke Anetta Undas

Kardiol Pol 2019 Nov 1;77(11):1070-1073. Epub 2019 Oct 1.

Department of Cardiac Surgery, Anesthesiology and Experimental Cardiology, Institute of Cardiology, Jagiellonian University Medical College, Kraków, Poland

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.33963/KP.15005DOI Listing
November 2019

Arterial Tortuosity Syndrome: An Ascorbate Compartmentalization Disorder?

Authors:
Annekatrien Boel Krisztina Veszelyi Csilla E Németh Aude Beyens Andy Willaert Paul Coucke Bert Callewaert Éva Margittai

Antioxid Redox Signal 2019 Nov 14. Epub 2019 Nov 14.

Institute of Clinical Experimental Research, Molecular Biology, and Pathobiochemistry, Semmelweis University, Budapest, Hungary.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1089/ars.2019.7843DOI Listing
November 2019

A novel fibrillin-1 mutation in an egyptian marfan family: A proband showing nephrotic syndrome due to focal segmental glomerulosclerosis.

Authors:
Mohammad Al-Haggar Ashraf Bakr Yahya Wahba Paul J Coucke Fatma El-Hussini Mona Hafez Riham Eid Abdel-Rahman Eid Amr Sarhan Ali Shaltout Ayman Hammad Sohier Yahia Ahmad El-Rifaie Dina Abdel-Hadi

Saudi J Kidney Dis Transpl 2017 Jan-Feb;28(1):141-148

Department of Pediatrics, Genetics Unit, Faculty of Medicine, Mansoura University, Mansoura, Egypt.

View Article

Download full-text PDF

 Source
http://www.sjkdt.org/text.asp?2017/28/1/141/198166
Publisher Site
http://dx.doi.org/10.4103/1319-2442.198166DOI Listing
August 2019

Correction: Arterial tortuosity syndrome: 40 new families and literature review.

Authors:
Aude Beyens Juliette Albuisson Annekatrien Boel Mazen Al-Essa Waheed Al-Manea Damien Bonnet Ozlem Bostan Odile Boute Tiffany Busa Nathalie Canham Ergun Cil Paul J Coucke Margot A Cousin Majed Dasouki Julie De Backer Anne De Paepe Sofie De Schepper Deepthi De Silva Koenraad Devriendt Inge De Wandele David R Deyle Harry Dietz Sophie Dupuis-Girod Eudice Fontenot Björn Fischer-Zirnsak Alper Gezdirici Jamal Ghoumid Fabienne Giuliano Neus Baena Mohammed Z Haider Joshua S Hardin Xavier Jeunemaitre Eric W Klee Uwe Kornak Manuel F Landecho Anne Legrand Bart Loeys Stanislas Lyonnet Helen Michael Pamela Moceri Shehla Mohammed Laura Muiño-Mosquera Sheela Nampoothiri Karin Pichler Katrina Prescott Anna Rajeb Maria Ramos-Arroyo Massimiliano Rossi Mustafa Salih Mohammed Z Seidahmed Elise Schaefer Elisabeth Steichen-Gersdorf Sehime Temel Fahrettin Uysal Marine Vanhomwegen Lut Van Laer Lionel Van Maldergem David Warner Andy Willaert Tom R Collins Ii Andrea Taylor Elaine C Davis Yuri Zarate Bert Callewaert

Genet Med 2019 Aug;21(8):1894-1895

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

View Article

Download full-text PDF

 Source
http://www.nature.com/articles/s41436-018-0035-3
Publisher Site
http://dx.doi.org/10.1038/s41436-018-0035-3DOI Listing
August 2019

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

Authors:
Brecht Guillemyn Hülya Kayserili Lynn Demuynck Patrick Sips Anne De Paepe Delfien Syx Paul J Coucke Fransiska Malfait Sofie Symoens

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

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

View Article

Download full-text PDF

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

BATCH-GE: Analysis of NGS Data for Genome Editing Assessment.

Authors:
Wouter Steyaert Annekatrien Boel Paul Coucke Andy Willaert

Methods Mol Biol 2018 ;1865:83-90

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

View Article

Download full-text PDF

 Source
http://link.springer.com/10.1007/978-1-4939-8784-9_6
Publisher Site
http://dx.doi.org/10.1007/978-1-4939-8784-9_6DOI Listing
May 2019

Decreased Nuclear Ascorbate Accumulation Accompanied with Altered Genomic Methylation Pattern in Fibroblasts from Arterial Tortuosity Syndrome Patients.

Authors:
Csilla E Németh Zsófia Nemoda Péter Lőw Pál Szabó Erzsébet Z Horváth Andy Willaert Annekatrien Boel Bert L Callewaert Paul J Coucke Marina Colombi Gábor Bánhegyi Éva Margittai

Oxid Med Cell Longev 2019 13;2019:8156592. Epub 2019 Jan 13.

Institute of Clinical Experimental Research, Semmelweis University, Budapest 1094, Hungary.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1155/2019/8156592DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6360052PMC
March 2019

Pathogenic variants in the ABCC6 gene are associated with an increased risk for ischemic stroke.

Authors:
Eva Y G De Vilder Stefanie Cardoen Mohammad J Hosen Olivier Le Saux Julie De Zaeytijd Bart P Leroy Jacques De Reuck Paul J Coucke Anne De Paepe Dimitri Hemelsoet Olivier M Vanakker

Brain Pathol 2018 11;28(6):822-831

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

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1111/bpa.12620DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6581194PMC
November 2018

Arterial tortuosity syndrome: 40 new families and literature review.

Authors:
Aude Beyens Juliette Albuisson Annekatrien Boel Mazen Al-Essa Waheed Al-Manea Damien Bonnet Ozlem Bostan Odile Boute Tiffany Busa Nathalie Canham Ergun Cil Paul J Coucke Margot A Cousin Majed Dasouki Julie De Backer Anne De Paepe Sofie De Schepper Deepthi De Silva Koenraad Devriendt Inge De Wandele David R Deyle Harry Dietz Sophie Dupuis-Girod Eudice Fontenot Björn Fischer-Zirnsak Alper Gezdirici Jamal Ghoumid Fabienne Giuliano Neus Baena Diéz Mohammed Z Haider Joshua S Hardin Xavier Jeunemaitre Eric W Klee Uwe Kornak Manuel F Landecho Anne Legrand Bart Loeys Stanislas Lyonnet Helen Michael Pamela Moceri Shehla Mohammed Laura Muiño-Mosquera Sheela Nampoothiri Karin Pichler Katrina Prescott Anna Rajeb Maria Ramos-Arroyo Massimiliano Rossi Mustafa Salih Mohammed Z Seidahmed Elise Schaefer Elisabeth Steichen-Gersdorf Sehime Temel Fahrettin Uysal Marine Vanhomwegen Lut Van Laer Lionel Van Maldergem David Warner Andy Willaert Tom R Collins Andrea Taylor Elaine C Davis Yuri Zarate Bert Callewaert

Genet Med 2018 10 11;20(10):1236-1245. Epub 2018 Jan 11.

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

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1038/gim.2017.253DOI Listing
October 2018

CRISPR/Cas9-mediated homology-directed repair by ssODNs in zebrafish induces complex mutational patterns resulting from genomic integration of repair-template fragments.

Authors:
Annekatrien Boel Hanna De Saffel Wouter Steyaert Bert Callewaert Anne De Paepe Paul J Coucke Andy Willaert

Dis Model Mech 2018 10 18;11(10). Epub 2018 Oct 18.

Center for Medical Genetics, Department of Biomolecular Medicine, Ghent University, Corneel Heymanslaan 10, 9000 Ghent, Belgium

View Article

Download full-text PDF

 Source
http://dmm.biologists.org/lookup/doi/10.1242/dmm.035352
Publisher Site
http://dx.doi.org/10.1242/dmm.035352DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6215429PMC
October 2018

Publisher Correction: BATCH-GE: Batch analysis of Next-Generation Sequencing data for genome editing assessment.

Authors:
Annekatrien Boel Wouter Steyaert Nina De Rocker Björn Menten Bert Callewaert Anne De Paepe Paul Coucke Andy Willaert

Sci Rep 2018 Oct 29;8(1):15845. Epub 2018 Oct 29.

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

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1038/s41598-018-33869-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6206066PMC
October 2018

Homozygosity for CREB3L1 premature stop codon in first case of recessive osteogenesis imperfecta associated with OASIS-deficiency to survive infancy.

Authors:
Katarina Lindahl Eva Åström Anca Dragomir Sofie Symoens Paul Coucke Sune Larsson Eleftherios Paschalis Paul Roschger Sonja Gamsjaeger Klaus Klaushofer Nadja Fratzl-Zelman Andreas Kindmark

Bone 2018 09 22;114:268-277. Epub 2018 Jun 22.

Dept. of Medical Sciences, Uppsala University Hospital, Uppsala, Sweden.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1016/j.bone.2018.06.019DOI Listing
September 2018

Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies.

Authors:
Charlotte Gistelinck Ronald Y Kwon Fransiska Malfait Sofie Symoens Matthew P Harris Katrin Henke Michael B Hawkins Shannon Fisher Patrick Sips Brecht Guillemyn Jan Willem Bek Petra Vermassen Hanna De Saffel Paul Eckhard Witten MaryAnn Weis Anne De Paepe David R Eyre Andy Willaert Paul J Coucke

Proc Natl Acad Sci U S A 2018 08 6;115(34):E8037-E8046. Epub 2018 Aug 6.

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

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1073/pnas.1722200115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6112716PMC
August 2018

Tailoring the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Guidelines for the Interpretation of Sequenced Variants in the Gene for Marfan Syndrome: Proposal for a Disease- and Gene-Specific Guideline.

Authors:
Laura Muiño-Mosquera Felke Steijns Tjorven Audenaert Ilse Meerschaut Anne De Paepe Wouter Steyaert Sofie Symoens Paul Coucke Bert Callewaert Marjolijn Renard Julie De Backer

Circ Genom Precis Med 2018 06;11(6):e002039

Center for Medical Genetics (L.M.-M., F.S., I.M., A.D.P., W.S., S.S., P.C., B.C., M.R., J.D.B.).

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1161/CIRCGEN.117.002039DOI Listing
June 2018

A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3.

Authors:
Dorien Schepers Giada Tortora Hiroko Morisaki Gretchen MacCarrick Mark Lindsay David Liang Sarju G Mehta Jennifer Hague Judith Verhagen Ingrid van de Laar Marja Wessels Yvonne Detisch Mieke van Haelst Annette Baas Klaske Lichtenbelt Kees Braun Denise van der Linde Jolien Roos-Hesselink George McGillivray Josephina Meester Isabelle Maystadt Paul Coucke Elie El-Khoury Sandhya Parkash Birgitte Diness Lotte Risom Ingrid Scurr Yvonne Hilhorst-Hofstee Takayuki Morisaki Julie Richer Julie Désir Marlies Kempers Andrea L Rideout Gabrielle Horne Chris Bennett Elisa Rahikkala Geert Vandeweyer Maaike Alaerts Aline Verstraeten Hal Dietz Lut Van Laer Bart Loeys

Hum Mutat 2018 05 6;39(5):621-634. Epub 2018 Mar 6.

Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1002/humu.23407DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5947146PMC
May 2018

Genetic study of non-syndromic tooth agenesis through the screening of paired box 9, msh homeobox 1, axin 2, and Wnt family member 10A genes: a case-series.

Authors:
Marwa Haddaji Mastouri Peter De Coster Aicha Zaghabani Frej Jammali Nabiha Raouahi Amina Ben Salem Ali Saad Paul Coucke Dorra H'mida Ben Brahim

Eur J Oral Sci 2018 02 8;126(1):24-32. Epub 2017 Nov 8.

Department of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1111/eos.12391DOI Listing
February 2018

MicroCT-Based Phenomics in the Zebrafish Skeleton Reveals Virtues of Deep Phenotyping in a Distributed Organ System.

Authors:
Matthew Hur Charlotte A Gistelinck Philippe Huber Jane Lee Marjorie H Thompson Adrian T Monstad-Rios Claire J Watson Sarah K McMenamin Andy Willaert David M Parichy Paul Coucke Ronald Y Kwon

Zebrafish 2018 02 27;15(1):77-78. Epub 2017 Nov 27.

1 Department of Orthopaedics and Sports Medicine, University of Washington , Seattle, Washington.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1089/zeb.2017.1540DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5792239PMC
February 2018

Future perspectives of genome-scale sequencing.

Authors:
Wouter Steyaert Steven Callens Paul Coucke Bart Dermaut Dimitri Hemelsoet Wim Terryn Bruce Poppe

Acta Clin Belg 2018 Feb;73(1):7-10

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

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1080/17843286.2017.1413809DOI Listing
February 2018

Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of 49 affected families.

Authors:
Osama Essawi Sofie Symoens Maha Fannana Mohammad Darwish Mohammad Farraj Andy Willaert Tamer Essawi Bert Callewaert Anne De Paepe Fransiska Malfait Paul J Coucke

Mol Genet Genomic Med 2018 01 18;6(1):15-26. Epub 2017 Nov 18.

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

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1002/mgg3.331DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5823677PMC
January 2018

Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families.

Authors:
Khadim Shah Sabba Mehmood Abid Jan Izoduwa Abbe Raja Hussain Ali Anwar Khan Muhammad S Chishti Kwanghyuk Lee Farooq Ahmad Muhammad Ansar Shaheen Shahzad Deborah A Nickerson Michael J Bamshad Paul J Coucke Regie L P Santos-Cortez Richard A Spritz Suzanne M Leal Wasim Ahmad

Int J Dermatol 2017 Dec;56(12):1406-1413

Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1111/ijd.13778DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6094939PMC
December 2017

Accurate quantification of homologous recombination in zebrafish: brca2 deficiency as a paradigm.

Authors:
Jeroen Vierstraete Andy Willaert Petra Vermassen Paul J Coucke Anne Vral Kathleen B M Claes

Sci Rep 2017 11 28;7(1):16518. Epub 2017 Nov 28.

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

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1038/s41598-017-16725-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5705637PMC
November 2017

MicroCT-based phenomics in the zebrafish skeleton reveals virtues of deep phenotyping in a distributed organ system.

Authors:
Matthew Hur Charlotte A Gistelinck Philippe Huber Jane Lee Marjorie H Thompson Adrian T Monstad-Rios Claire J Watson Sarah K McMenamin Andy Willaert David M Parichy Paul Coucke Ronald Y Kwon

Elife 2017 09 8;6. Epub 2017 Sep 8.

Department of Orthopaedics and Sports Medicine, University of Washington, Seattle, United States.

View Article

Download full-text PDF

 Source
https://elifesciences.org/articles/26014
Publisher Site
http://dx.doi.org/10.7554/eLife.26014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5606849PMC
September 2017

GLUT10-Lacking in Arterial Tortuosity Syndrome-Is Localized to the Endoplasmic Reticulum of Human Fibroblasts.

Authors:
Alessandra Gamberucci Paola Marcolongo Csilla E Németh Nicoletta Zoppi András Szarka Nicola Chiarelli Tamás Hegedűs Marco Ritelli Giulia Carini Andy Willaert Bert L Callewaert Paul J Coucke Angiolo Benedetti Éva Margittai Rosella Fulceri Gábor Bánhegyi Marina Colombi

Int J Mol Sci 2017 Aug 22;18(8). Epub 2017 Aug 22.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.3390/ijms18081820DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5578206PMC
August 2017

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

Authors:
Mehmet B Duz Emre Kirat Paul J Coucke Erkan Koparir Alper Gezdirici Anne De Paepe Bert Callewaert Mehmet Seven

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.

View Article

Download full-text PDF

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

A mild form of Stickler syndrome type II caused by mosaicism of COL11A1.

Authors:
Kathrine F Lauritsen Dorte L Lildballe Paul J Coucke Rikke Monrad Dorte A Larsen Pernille A Gregersen

Eur J Med Genet 2017 May 14;60(5):275-278. Epub 2017 Mar 14.

Department of Clinical Genetics, Aarhus University Hospital, Denmark; Centre for Rare Disorders, Department of Paediatrics, Aarhus University Hospital, Denmark. Electronic address:

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1016/j.ejmg.2017.03.005DOI Listing
May 2017

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

Authors:
Sofie Symoens Wouter Steyaert Lynn Demuynck Anne De Paepe Karin E M Diderich Fransiska Malfait Paul J Coucke

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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1016/j.ajhg.2016.12.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294668PMC
February 2017

Characterization of a novel mutation in PAX9 gene in a family with non-syndromic dental agenesis.

Authors:
Marwa Haddaji Mastouri Peter De Coster Aicha Zaghabani Saoussen Trabelsi Yosra May Ali Saad Paul Coucke Dorra H'mida Ben Brahim

Arch Oral Biol 2016 Nov 28;71:110-116. Epub 2016 Jul 28.

Department of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Ibn Aljazzar street, 4031, Sousse, Tunisia. Electronic address:

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1016/j.archoralbio.2016.07.009DOI Listing
November 2016

Loss of Type I Collagen Telopeptide Lysyl Hydroxylation Causes Musculoskeletal Abnormalities in a Zebrafish Model of Bruck Syndrome.

Authors:
Charlotte Gistelinck Paul Eckhard Witten Ann Huysseune Sofie Symoens Fransiska Malfait Daria Larionova Pascal Simoens Manuel Dierick Luc Van Hoorebeke Anne De Paepe Ronald Y Kwon MaryAnn Weis David R Eyre Andy Willaert Paul J Coucke

J Bone Miner Res 2016 11 24;31(11):1930-1942. Epub 2016 Oct 24.

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

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1002/jbmr.2977DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5364950PMC
November 2016

DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System.

Authors:
Manou Sommen Isabelle Schrauwen Geert Vandeweyer Nele Boeckx Jason J Corneveaux Jenneke van den Ende An Boudewyns Els De Leenheer Sandra Janssens Kathleen Claes Margriet Verstreken Nicola Strenzke Friederike Predöhl Wim Wuyts Geert Mortier Maria Bitner-Glindzicz Tobias Moser Paul Coucke Matthew J Huentelman Guy Van Camp

Hum Mutat 2016 08 6;37(8):812-9. Epub 2016 May 6.

Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1002/humu.22999DOI Listing
August 2016

Marfan Syndrome and Related Heritable Thoracic Aortic Aneurysms and Dissections.

Authors:
Julie De Backer Marjolijn Renard Laurence Campens Laura Muino Mosquera Anne De Paepe Paul Coucke Bert Callewaert Yskert von Kodolitsch

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

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

View Article

Download full-text PDF

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

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

Authors:
Delfien Syx Sofie Symoens Wouter Steyaert Anne De Paepe Paul J Coucke Fransiska Malfait

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

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

View Article

Download full-text PDF

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

BATCH-GE: Batch analysis of Next-Generation Sequencing data for genome editing assessment.

Authors:
Annekatrien Boel Woutert Steyaert Nina De Rocker Björn Menten Bert Callewaert Anne De Paepe Paul Coucke Andy Willaert

Sci Rep 2016 07 27;6:30330. Epub 2016 Jul 27.

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

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1038/srep30330DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4962088PMC
July 2016

Glucose transporter type 10-lacking in arterial tortuosity syndrome-facilitates dehydroascorbic acid transport.

Authors:
Csilla E Németh Paola Marcolongo Alessandra Gamberucci Rosella Fulceri Angiolo Benedetti Nicoletta Zoppi Marco Ritelli Nicola Chiarelli Marina Colombi Andy Willaert Bert L Callewaert Paul J Coucke Pál Gróf Szilvia K Nagy Tamás Mészáros Gábor Bánhegyi Éva Margittai

FEBS Lett 2016 Jun 27;590(11):1630-40. Epub 2016 May 27.

Institute of Clinical Experimental Research, Semmelweis University, Budapest, Hungary.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1002/1873-3468.12204DOI Listing
June 2016

The Genetics of Soft Connective Tissue Disorders.

Authors:
Olivier Vanakker Bert Callewaert Fransiska Malfait Paul Coucke

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:

View Article

Download full-text PDF

 Source
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

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

Authors:
Jan Cosyn Véronique Christiaens Vincent Koningsveld Paul J Coucke Peter De Coster Anne De Paepe Hugo De Bruyn

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.

View Article

Download full-text PDF

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

Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP.

Authors:
Khadim Shah Raja Hussain Ali Muhammad Ansar Kwanghyuk Lee Muhammad Salman Chishti Izoduwa Abbe Biao Li Joshua D Smith Deborah A Nickerson Jay Shendure Paul J Coucke Wouter Steyaert Michael J Bamshad Regie Lyn P Santos-Cortez Suzanne M Leal Wasim Ahmad

BMC Med Genet 2016 Feb 16;17:13. Epub 2016 Feb 16.

Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, 45320, Pakistan.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1186/s12881-016-0275-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4754937PMC
February 2016

Comparison of methods for in-house screening of HLA-B*57:01 to prevent abacavir hypersensitivity in HIV-1 care.

Authors:
Ward De Spiegelaere Jan Philippé Karen Vervisch Chris Verhofstede Eva Malatinkova Maja Kiselinova Wim Trypsteen Pawel Bonczkowski Dirk Vogelaers Steven Callens Jean Ruelle Kabamba Kabeya Stephane De Wit Petra Van Acker Vicky Van Sandt Marie-Paule Emonds Paul Coucke Erica Sermijn Linos Vandekerckhove

PLoS One 2015 15;10(4):e0123525. Epub 2015 Apr 15.

Ghent University, Department of Internal Medicine, Ghent, Belgium.

View Article

Download full-text PDF

 Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0123525PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4398410PMC
January 2016

Association between Kniest dysplasia and chondrosarcoma in a child.

Authors:
Audrey Hochart Anne Dieux Paul Coucke Damien Fron Pierre Fayoux Pierre Labalette Nathalie Boutry Fabienne Escande Sébastien Aubert Florence Renaud Nathalie Rocourt Matthieu Vinchon Pierre Leblond

Am J Med Genet A 2015 Dec 8;167A(12):3204-8. Epub 2015 Sep 8.

Pediatric Oncology Unit, Oscar Lambret Center, Lille, France.

View Article

Download full-text PDF

 Source
http://doi.wiley.com/10.1002/ajmg.a.37361
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.37361DOI Listing
December 2015

New insights into the molecular diagnosis and management of heritable thoracic aortic aneurysms and dissections.

Authors:
Laurence Campens Marjolijn Renard Bert Callewaert Paul Coucke Julie De Backer Anne De Paepe

Pol Arch Med Wewn 2013 16;123(12):693-700. Epub 2013 Dec 16.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.20452/pamw.2015DOI Listing
November 2015

Altered cytoskeletal organization characterized lethal but not surviving Brtl+/- mice: insight on phenotypic variability in osteogenesis imperfecta.

Authors:
Laura Bianchi Assunta Gagliardi Silvia Maruelli Roberta Besio Claudia Landi Roberta Gioia Kenneth M Kozloff Basma M Khoury Paul J Coucke Sofie Symoens Joan C Marini Antonio Rossi Luca Bini Antonella Forlino

Hum Mol Genet 2015 Nov 11;24(21):6118-33. Epub 2015 Aug 11.

Department of Molecular Medicine, Biochemistry Unit, University of Pavia, Pavia, Italy,

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1093/hmg/ddv328DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4607742PMC
November 2015

First report of the genetic background of Marfan syndrome in Polish patients.

Authors:
Ewa Wypasek Daniel P Potaczek Renata Stąpor Paul J Coucke Julie De Backer Anne M De Paepe Anetta Undas

Pol Arch Med Wewn 2013 ;123(11):646-7

View Article

Download full-text PDF

 Source
October 2015

Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia.

Authors:
Sofie Symoens Aileen M Barnes Charlotte Gistelinck Fransiska Malfait Brecht Guillemyn Wouter Steyaert Delfien Syx Sanne D'hondt Martine Biervliet Julie De Backer Eckhard P Witten Sergey Leikin Elena Makareeva Gabriele Gillessen-Kaesbach Ann Huysseune Kris Vleminckx Andy Willaert Anne De Paepe Joan C Marini Paul J Coucke

Am J Hum Genet 2015 Oct 10;97(4):521-34. Epub 2015 Sep 10.

Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium. Electronic address:

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1016/j.ajhg.2015.08.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4596895PMC
October 2015

Defective Proteolytic Processing of Fibrillar Procollagens and Prodecorin Due to Biallelic BMP1 Mutations Results in a Severe, Progressive Form of Osteogenesis Imperfecta.

Authors:
Delfien Syx Brecht Guillemyn Sofie Symoens Ana Berta Sousa Ana Medeira Margo Whiteford Trinh Hermanns-Lê Paul J Coucke Anne De Paepe Fransiska Malfait

J Bone Miner Res 2015 Aug 21;30(8):1445-56. Epub 2015 May 21.

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

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1002/jbmr.2473DOI Listing
August 2015

Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity.

Authors:
Nina De Rocker Sarah Vergult David Koolen Eva Jacobs Alexander Hoischen Susan Zeesman Birgitte Bang Frédérique Béna Nele Bockaert Ernie M Bongers Thomy de Ravel Koenraad Devriendt Sabrina Giglio Laurence Faivre Shelagh Joss Saskia Maas Nathalie Marle Francesca Novara Malgorzata J M Nowaczyk Hilde Peeters Abeltje Polstra Filip Roelens Carla Rosenberg Julien Thevenon Zeynep Tümer Suzanne Vanhauwaert Konstantinos Varvagiannis Andy Willaert Marjolein Willemsen Marjolaine Willems Orsetta Zuffardi Paul Coucke Frank Speleman Evan E Eichler Tjitske Kleefstra Björn Menten

Genet Med 2015 Jun 18;17(6):460-6. Epub 2014 Sep 18.

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

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1038/gim.2014.124DOI Listing
June 2015

Expressed repeat elements improve RT-qPCR normalization across a wide range of zebrafish gene expression studies.

Authors:
Suzanne Vanhauwaert Gert Van Peer Ali Rihani Els Janssens Pieter Rondou Steve Lefever Anne De Paepe Paul J Coucke Frank Speleman Jo Vandesompele Andy Willaert

PLoS One 2014 13;9(10):e109091. Epub 2014 Oct 13.

Center of Medical Genetics, Ghent University, Ghent, Belgium.

View Article

Download full-text PDF

 Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0109091PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4195698PMC
June 2015

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

Authors:
Mohammad J Hosen Filip Van Nieuwerburgh Wouter Steyaert Dieter Deforce Ludovic Martin Georges Leftheriotis Anne De Paepe Paul J Coucke Olivier M Vanakker

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:

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

Flexible, scalable, and efficient targeted resequencing on a benchtop sequencer for variant detection in clinical practice.

Authors:
Kim De Leeneer Jan Hellemans Wouter Steyaert Steve Lefever Inge Vereecke Eveline Debals Brecht Crombez Machteld Baetens Mattias Van Heetvelde Frauke Coppieters Jo Vandesompele Annelies De Jaegher Elfride De Baere Paul Coucke Kathleen Claes

Hum Mutat 2015 Mar;36(3):379-87

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

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1002/humu.22739DOI Listing
March 2015

A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype.

Authors:
Paulien A Terhal Rutger Jan A J Nievelstein Eva J J Verver Vedat Topsakal Paula van Dommelen Kristien Hoornaert Martine Le Merrer Andreas Zankl Marleen E H Simon Sarah F Smithson Carlo Marcelis Bronwyn Kerr Jill Clayton-Smith Esther Kinning Sahar Mansour Frances Elmslie Linda Goodwin Annemarie H van der Hout Hermine E Veenstra-Knol Johanna C Herkert Allan M Lund Raoul C M Hennekam André Mégarbané Melissa M Lees Louise C Wilson Alison Male Jane Hurst Yasemin Alanay Göran Annerén Regina C Betz Ernie M H F Bongers Valerie Cormier-Daire Anne Dieux Albert David Mariet W Elting Jenneke van den Ende Andrew Green Johanna M van Hagen Niels Thomas Hertel Muriel Holder-Espinasse Nicolette den Hollander Tessa Homfray Hanne D Hove Susan Price Annick Raas-Rothschild Marianne Rohrbach Barbara Schroeter Mohnish Suri Elizabeth M Thompson Edward S Tobias Annick Toutain Maaike Vreeburg Emma Wakeling Nine V Knoers Paul Coucke Geert R Mortier

Am J Med Genet A 2015 Mar 21;167A(3):461-75. Epub 2015 Jan 21.

Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1002/ajmg.a.36922DOI Listing
March 2015

Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients.

Authors:
Laurence Campens Bert Callewaert Laura Muiño Mosquera Marjolijn Renard Sofie Symoens Anne De Paepe Paul Coucke Julie De Backer

Orphanet J Rare Dis 2015 Feb 3;10. Epub 2015 Feb 3.

Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185 - 0 K5, 9000, Ghent, Belgium.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1186/s13023-014-0221-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4326194PMC
February 2015

The soft tissue immunologic response to hydroxyapatite-coated transmucosal implant surfaces: a study in humans.

Authors:
Elisabeth A W J De Wilde Ryo Jimbo Ann Wennerberg Yoshihito Naito Paul Coucke Matthew S Bryington Stefan Vandeweghe Hugo De Bruyn

Clin Implant Dent Relat Res 2015 Jan 5;17 Suppl 1:e65-74. Epub 2013 Aug 5.

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

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1111/cid.12128DOI Listing
January 2015

Absence of cardiovascular manifestations in a haploinsufficient Tgfbr1 mouse model.

Authors:
Marjolijn Renard Bram Trachet Christophe Casteleyn Laurence Campens Pieter Cornillie Bert Callewaert Steven Deleye Bert Vandeghinste Paula M van Heijningen Harry Dietz Filip De Vos Jeroen Essers Steven Staelens Patrick Segers Bart Loeys Paul Coucke Anne De Paepe Julie De Backer

PLoS One 2014 24;9(2):e89749. Epub 2014 Feb 24.

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

View Article

Download full-text PDF

 Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0089749PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3933654PMC
January 2015

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

Authors:
Sofie Symoens David J S Hulmes Jean-Marie Bourhis Paul J Coucke Anne De Paepe Fransiska Malfait

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

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

View Article

Download full-text PDF

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

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

Authors:
Frederic R Acke Fransiska Malfait Olivier M Vanakker Wouter Steyaert Kim De Leeneer Geert Mortier Ingeborg Dhooge Anne De Paepe Els M R De Leenheer Paul J Coucke

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:

View Article

Download full-text PDF

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

Congenital contractural arachnodactyly due to a novel splice site mutation in the FBN2 gene.

Authors:
Virendra Mehar Dinesh Yadav Ravindra Kumar Summi Yadav Kuldeep Singh Bert Callewaert Shahnawaz Pathan Anne De Paepe Paul J Coucke

J Pediatr Genet 2014 Sep;3(3):163-6

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

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.3233/PGE-14093DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5020994PMC
September 2014

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

Authors:
Björn Fischer Bert Callewaert Phillipe Schröter Paul J Coucke Claire Schlack Claus-Eric Ott Manrico Morroni Wolfgang Homann Stefan Mundlos Eva Morava Anna Ficcadenti Uwe Kornak

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:

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1016/j.ymgme.2014.05.003DOI Listing
August 2014

Illumina sequencing of 15 deafness genes using fragmented amplicons.

Authors:
Filip Van Nieuwerburgh Sarah De Keulenaer Joachim De Schrijver Jo Vandesompele Wim Van Criekinge Paul J Coucke Dieter Deforce

BMC Res Notes 2014 Aug 9;7:509. Epub 2014 Aug 9.

Laboratory for Pharmaceutical Biotechnology, Ghent University, Ottergemsesteenweg 460, Ghent 9000, Belgium.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1186/1756-0500-7-509DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4266979PMC
August 2014

Congenital fixed dilated pupils due to ACTA2- multisystemic smooth muscle dysfunction syndrome.

Authors:
Françoise M J Roulez Fran Faes Patricia Delbeke Patrick Van Bogaert Georges Rodesch Julie De Zaeytijd Fanny Depasse Paul J Coucke Francoise M Meire

J Neuroophthalmol 2014 Jun;34(2):137-43

Department of Pediatric Ophthalmology (FMJR, FMM), HUDERF, ULB, Brussels, Belgium; Departments of Neuropediatrics (FF) and Ophthalmology (PD, JDZ), Ghent University, Belgium; Department of Neuropediatrics (PVB), Erasme, ULB, Brussels, Belgium; Department of Neuroradiology (GR), Foch Hospital, Paris, France; Department of Ophthalmology (FD), Erasme, ULB, Brussels, Belgium; Department of Medical Genetics (PJC), Ghent University, Ghent, Belgium; and Vista Alpina (FMJR), Sierre, Switzerland.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1097/WNO.0000000000000090DOI Listing
June 2014

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

Authors:
Adeline Jacquinet Alain Verloes Bert Callewaert Christine Coremans Paul Coucke Anne de Paepe Uwe Kornak Frederic Lebrun Jacques Lombet Gérald E Piérard Peter N Robinson Sofie Symoens Lionel Van Maldergem François-Guillaume Debray

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:

View Article

Download full-text PDF

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

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

Authors:
Mohammad J Hosen Paul J Coucke Olivier Le Saux Anne De Paepe Olivier M Vanakker

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

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

View Article

Download full-text PDF

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

Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome.

Authors:
Aideen M McInerney-Leo Mhairi S Marshall Brooke Gardiner Paul J Coucke Lut Van Laer Bart L Loeys Kim M Summers Sofie Symoens Jennifer A West Malcolm J West B Paul Wordsworth Andreas Zankl Paul J Leo Matthew A Brown Emma L Duncan

Bonekey Rep 2013 4;2:456. Epub 2013 Dec 4.

The University of Queensland Diamantina Institute, Translational Research Institute, Princess Alexandra Hospital , Brisbane, Queensland, Australia ; Department of Endocrinology, Royal Brisbane and Women's Hospital , Herston, Queensland, Australia.

View Article

Download full-text PDF

 Source
http://pubmedcentralcanada.ca/pmcc/articles/PMC3909233/pdf/b
Web Search
http://www.nature.com/doifinder/10.1038/bonekey.2013.190
Publisher Site
http://dx.doi.org/10.1038/bonekey.2013.190DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3909233PMC
February 2014

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

Authors:
Alexander Janssen Mohammad J Hosen Philippe Jeannin Paul J Coucke Anne De Paepe Olivier M Vanakker

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

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

View Article

Download full-text PDF

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

Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans.

Authors:
Sofie Symoens Fransiska Malfait Sanne D'hondt Bert Callewaert Annelies Dheedene Wouter Steyaert Hans Peter Bächinger Anne De Paepe Hulya Kayserili Paul J Coucke

Orphanet J Rare Dis 2013 Sep 30;8:154. Epub 2013 Sep 30.

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

View Article

Download full-text PDF

 Source
http://ojrd.biomedcentral.com/articles/10.1186/1750-1172-8-1
Publisher Site
http://dx.doi.org/10.1186/1750-1172-8-154DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3850743PMC
September 2013

Genes in Thoracic Aortic Aneurysms and Dissections - Do they Matter?: Translation and Integration of Research and Modern Genetic Techniques into Daily Clinical Practice.

Authors:
Julie De Backer Marjolijn Renard Laurence Campens Katrien François Bert Callewaert Paul Coucke Anne De Paepe

Aorta (Stamford) 2013 Jul 1;1(2):135-45. Epub 2013 Jul 1.

Centre for Medical Genetics, University Hospital Ghent, Ghent, Belgium;

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.12945/j.aorta.2013.13-024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4682714PMC
July 2013

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

Authors:
Mohammad Jakir Hosen Olivier M Vanakker Andy Willaert Ann Huysseune Paul Coucke Anne De Paepe

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.

View Article

Download full-text PDF

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

Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD.

Authors:
Marjolijn Renard Bert Callewaert Machteld Baetens Laurence Campens Kay MacDermot Jean-Pierre Fryns Maryse Bonduelle Harry C Dietz Isabel Mendes Gaspar Diogo Cavaco Eva-Lena Stattin Constance Schrander-Stumpel Paul Coucke Bart Loeys Anne De Paepe Julie De Backer

Int J Cardiol 2013 May 19;165(2):314-21. Epub 2011 Sep 19.

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

View Article

Download full-text PDF

 Source
http://linkinghub.elsevier.com/retrieve/pii/S016752731100920
Publisher Site
http://dx.doi.org/10.1016/j.ijcard.2011.08.079DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3253210PMC
May 2013

Thoracic aortic-aneurysm and dissection in association with significant mitral valve disease caused by mutations in TGFB2.

Authors:
Marjolijn Renard Bert Callewaert Fransiska Malfait Laurence Campens Saba Sharif Miguel del Campo Irene Valenzuela Catherine Mcwilliam Paul Coucke Anne De Paepe Julie De Backer

Int J Cardiol 2013 May 25;165(3):584-7. Epub 2012 Oct 25.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1016/j.ijcard.2012.09.029DOI Listing
May 2013

Dermatosparaxis (Ehlers-Danlos type VIIC): prenatal diagnosis following a previous pregnancy with unexpected skull fractures at delivery.

Authors:
Joyce Solomons Paul Coucke Sofie Symoens Marta C Cohen F Michael Pope Bart E Wagner Glenda Sobey Rebecca Black Deirdre Cilliers

Am J Med Genet A 2013 May 13;161A(5):1122-5. Epub 2013 Mar 13.

Department of Clinical Genetics, Oxford University Hospitals, Oxford, UK.

View Article

Download full-text PDF

 Source
http://doi.wiley.com/10.1002/ajmg.a.35802
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.35802DOI Listing
May 2013

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

Authors:
Smail Hadj-Rabia Bert L Callewaert Emmanuelle Bourrat Marlies Kempers Astrid S Plomp Valerie Layet Deborah Bartholdi Marjolijn Renard Julie De Backer Fransiska Malfait Olivier M Vanakker Paul J Coucke Anne M De Paepe Christine Bodemer

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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1002/humu.22165DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4105850PMC
January 2013

A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing.

Authors:
Isabelle Schrauwen Manou Sommen Jason J Corneveaux Rebecca A Reiman Nicole J Hackett Charlotte Claes Kathleen Claes Maria Bitner-Glindzicz Paul Coucke Guy Van Camp Matthew J Huentelman

Am J Med Genet A 2013 Jan 3;161A(1):145-52. Epub 2012 Dec 3.

Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1002/ajmg.a.35737DOI Listing
January 2013

Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria.

Authors:
Sofie Symoens Delfien Syx Fransiska Malfait Bert Callewaert Julie De Backer Olivier Vanakker Paul Coucke Anne De Paepe

Hum Mutat 2012 Oct 5;33(10):1485-93. Epub 2012 Jul 5.

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

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1002/humu.22137DOI Listing
October 2012

A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment.

Authors:
Isabelle Schrauwen Sarah Helfmann Akira Inagaki Friederike Predoehl Mohammad Amin Tabatabaiefar Maria Magdalena Picher Manou Sommen Celia Zazo Seco Jaap Oostrik Hannie Kremer Annelies Dheedene Charlotte Claes Erik Fransen Morteza Hashemzadeh Chaleshtori Paul Coucke Amy Lee Tobias Moser Guy Van Camp

Am J Hum Genet 2012 10 13;91(4):636-45. Epub 2012 Sep 13.

Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerp, Belgium.

View Article

Download full-text PDF

 Source
https://linkinghub.elsevier.com/retrieve/pii/S00029297120043
Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2012.08.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3484643PMC
October 2012

Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical determinant of human vascular elastogenesis.

Authors:
Mahesh Kappanayil Sheela Nampoothiri Rajesh Kannan Marjolijn Renard Paul Coucke Fransiska Malfait Swapna Menon Hiran K Ravindran Renu Kurup Muhammad Faiyaz-Ul-Haque Krishna Kumar Anne De Paepe

Orphanet J Rare Dis 2012 Sep 3;7:61. Epub 2012 Sep 3.

Departments of Pediatric Cardiology, Amrita Institute of Medical Sciences and Research Centre, Kochi, India.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1186/1750-1172-7-61DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3598868PMC
September 2012

Stapes surgery in osteogenesis imperfecta: retrospective analysis of 34 operated ears.

Authors:
Freya K R Swinnen Els M R De Leenheer Paul J Coucke Cor W R J Cremers Ingeborg J M Dhooge

Audiol Neurootol 2012 7;17(3):198-206. Epub 2012 Mar 7.

Department of Otorhinolaryngology, Ghent University Hospital, Belgium. Freya.Swinnen @ UGent.be

View Article

Download full-text PDF

 Source
https://www.karger.com/Article/FullText/336211
Publisher Site
http://dx.doi.org/10.1159/000336211DOI Listing
August 2012

Spondyloperipheral dysplasia as the mosaic form of platyspondylic lethal skeletal dyplasia torrance type in mother and fetus with the same COL2A1 mutation.

Authors:
Julie Désir Marie Cassart Catherine Donner Paul Coucke Marc Abramowicz Geert Mortier

Am J Med Genet A 2012 Aug 11;158A(8):1948-52. Epub 2012 Apr 11.

Medical Genetics Department, Hôpital Erasme-ULB, Brussels, Belgium.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1002/ajmg.a.35301DOI Listing
August 2012

Mutation-based growth charts for SEDC and other COL2A1 related dysplasias.

Authors:
Paulien A Terhal Paula van Dommelen Martine Le Merrer Andreas Zankl Marleen E H Simon Sarah F Smithson Carlo Marcelis Bronwyn Kerr Esther Kinning Sahar Mansour Raoul C M Hennekam Annemarie H van der Hout Valerie Cormier-Daire Allan M Lund Linda Goodwin André Mégarbané Melissa Lees Regina C Betz Edward S Tobias Paul Coucke Geert R Mortier

Am J Med Genet C Semin Med Genet 2012 Aug 12;160C(3):205-16. Epub 2012 Jul 12.

Department of Biomedical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1002/ajmg.c.31332DOI Listing
August 2012

Aggressive cardiovascular phenotype of aneurysms-osteoarthritis syndrome caused by pathogenic SMAD3 variants.

Authors:
Denise van der Linde Ingrid M B H van de Laar Aida M Bertoli-Avella Rogier A Oldenburg Jos A Bekkers Francesco U S Mattace-Raso Anton H van den Meiracker Adriaan Moelker Fop van Kooten Ingrid M E Frohn-Mulder Janneke Timmermans Els Moltzer Jan M Cobben Lut van Laer Bart Loeys Julie De Backer Paul J Coucke Anne De Paepe Yvonne Hilhorst-Hofstee Marja W Wessels Jolien W Roos-Hesselink

J Am Coll Cardiol 2012 Jul 23;60(5):397-403. Epub 2012 May 23.

Department of Cardiology, Erasmus Medical Center, Rotterdam, the Netherlands.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1016/j.jacc.2011.12.052DOI Listing
July 2012

The Ghent Marfan Trial--a randomized, double-blind placebo controlled trial with losartan in Marfan patients treated with β-blockers.

Authors:
Katarina Möberg Sylvia De Nobele Dan Devos Els Goetghebeur Patrick Segers Bram Trachet Chris Vervaet Marjolijn Renard Paul Coucke Bart Loeys Anne De Paepe Julie De Backer

Int J Cardiol 2012 Jun 15;157(3):354-8. Epub 2011 Jan 15.

Center for Medical Genetics, University Hospital Ghent, Belgium.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1016/j.ijcard.2010.12.070DOI Listing
June 2012

Molecular diagnostics for congenital hearing loss including 15 deafness genes using a next generation sequencing platform.

Authors:
Sarah De Keulenaer Jan Hellemans Steve Lefever Jean-Pierre Renard Joachim De Schrijver Hendrik Van de Voorde Mohammad Amin Tabatabaiefar Filip Van Nieuwerburgh Daisy Flamez Filip Pattyn Bieke Scharlaken Dieter Deforce Sofie Bekaert Wim Van Criekinge Jo Vandesompele Guy Van Camp Paul Coucke

BMC Med Genomics 2012 May 18;5:17. Epub 2012 May 18.

NXTGNT, Ghent University, Ghent, Belgium.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1186/1755-8794-5-17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3443074PMC
May 2012

GLUT10 is required for the development of the cardiovascular system and the notochord and connects mitochondrial function to TGFβ signaling.

Authors:
Andy Willaert Sandeep Khatri Bert L Callewaert Paul J Coucke Seth D Crosby Joseph G H Lee Elaine C Davis Sruti Shiva Michael Tsang Anne De Paepe Zsolt Urban

Hum Mol Genet 2012 Mar 24;21(6):1248-59. Epub 2011 Nov 24.

Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1093/hmg/ddr555DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3284116PMC
March 2012

Audiologic phenotype of osteogenesis imperfecta: use in clinical differentiation.

Authors:
Freya K R Swinnen Ingeborg J M Dhooge Paul J Coucke Patrizia D'Eufemia Francesco Zardo Ton J T M Garretsen Cor W R J Cremers Els M R De Leenheer

Otol Neurotol 2012 Feb;33(2):115-22

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

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1097/MAO.0b013e31823e28e9DOI Listing
February 2012

Association between bone mineral density and hearing loss in osteogenesis imperfecta.

Authors:
Freya K R Swinnen Els M R De Leenheer Stefan Goemaere Cor W R J Cremers Paul J Coucke Ingeborg J M Dhooge

Laryngoscope 2012 Feb 17;122(2):401-8. Epub 2012 Jan 17.

Department of Otorhinolaryngology, Unit for Osteoporosis, Ghent University Hospital, Ghent, Belgium.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1002/lary.22408DOI Listing
February 2012

Practical tools to implement massive parallel pyrosequencing of PCR products in next generation molecular diagnostics.

Authors:
Kim De Leeneer Joachim De Schrijver Lieven Clement Machteld Baetens Steve Lefever Sarah De Keulenaer Wim Van Criekinge Dieter Deforce Filip Van Nieuwerburgh Sofie Bekaert Filip Pattyn Bram De Wilde Paul Coucke Jo Vandesompele Kathleen Claes Jan Hellemans

PLoS One 2011 30;6(9):e25531. Epub 2011 Sep 30.

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

View Article

Download full-text PDF

 Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0025531PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3184136PMC
January 2012

Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome.

Authors:
Ingrid M B H van de Laar Denise van der Linde Edwin H G Oei Pieter K Bos Johannes H Bessems Sita M Bierma-Zeinstra Belle L van Meer Gerard Pals Rogier A Oldenburg Jos A Bekkers Adriaan Moelker Bianca M de Graaf Gabor Matyas Ingrid M E Frohn-Mulder Janneke Timmermans Yvonne Hilhorst-Hofstee Jan M Cobben Hennie T Bruggenwirth Lut van Laer Bart Loeys Julie De Backer Paul J Coucke Harry C Dietz Patrick J Willems Ben A Oostra Anne De Paepe Jolien W Roos-Hesselink Aida M Bertoli-Avella Marja W Wessels

J Med Genet 2012 Jan;49(1):47-57

Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1136/jmedgenet-2011-100382DOI Listing
January 2012

Osteogenesis Imperfecta: the audiological phenotype lacks correlation with the genotype.

Authors:
Freya K R Swinnen Paul J Coucke Anne M De Paepe Sofie Symoens Fransiska Malfait Filomena V Gentile Luca Sangiorgi Patrizia D'Eufemia Mauro Celli Ton J T M Garretsen Cor W R J Cremers Ingeborg J M Dhooge Els M R De Leenheer

Orphanet J Rare Dis 2011 Dec 29;6:88. Epub 2011 Dec 29.

Department of Otorhinolaryngology, Ghent University Hospital, De Pintelaan 185, B-9000 Ghent, Belgium.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1186/1750-1172-6-88DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3267664PMC
December 2011

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

Authors:
Olivier M Vanakker Bart P Leroy Leon J Schurgers Cees Vermeer Paul J Coucke Anne De Paepe

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.

View Article

Download full-text PDF

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

Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes.

Authors:
Machteld Baetens Lut Van Laer Kim De Leeneer Jan Hellemans Joachim De Schrijver Hendrik Van De Voorde Marjolijn Renard Hal Dietz Ronald V Lacro Björn Menten Wim Van Criekinge Julie De Backer Anne De Paepe Bart Loeys Paul J Coucke

Hum Mutat 2011 Sep 20;32(9):1053-62. Epub 2011 Jul 20.

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

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1002/humu.21525DOI Listing
September 2011

Functional polymorphism in gamma-glutamylcarboxylase is a risk factor for severe neonatal hemorrhage.

Authors:
Olivier M Vanakker Kris De Coen Laura Costrop Paul J Coucke Piet Vanhaesebrouck Anne De Paepe

J Pediatr 2011 Aug 24;159(2):347-9. Epub 2011 Jun 24.

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

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1016/j.jpeds.2011.04.044DOI Listing
August 2011

New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations.

Authors:
Bert Callewaert Marjolijn Renard Vishwanathan Hucthagowder Beate Albrecht Ingrid Hausser Edward Blair Cristina Dias Alice Albino Hiroshi Wachi Fumiaki Sato Robert P Mecham Bart Loeys Paul J Coucke Anne De Paepe Zsolt Urban

Hum Mutat 2011 Apr 1;32(4):445-55. Epub 2011 Mar 1.

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

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1002/humu.21462DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3383654PMC
April 2011

Massive parallel amplicon sequencing of the breast cancer genes BRCA1 and BRCA2: opportunities, challenges, and limitations.

Authors:
Kim De Leeneer Jan Hellemans Joachim De Schrijver Machteld Baetens Bruce Poppe Wim Van Criekinge Anne De Paepe Paul Coucke Kathleen Claes

Hum Mutat 2011 Mar 8;32(3):335-44. Epub 2011 Feb 8.

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

View Article

Download full-text PDF

 Source
http://doi.wiley.com/10.1002/humu.21428
Publisher Site
http://dx.doi.org/10.1002/humu.21428DOI Listing
March 2011

Identification of binding partners interacting with the α1-N-propeptide of type V collagen.

Authors:
Sofie Symoens Marjolijn Renard Christelle Bonod-Bidaud Delfien Syx Elisabeth Vaganay Fransiska Malfait Sylvie Ricard-Blum Efrat Kessler Lut Van Laer Paul Coucke Florence Ruggiero Anne De Paepe

Biochem J 2011 Jan;433(2):371-81

Center for Medical Genetics, Ghent University Hospital, Belgium.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1042/BJ20101061DOI Listing
January 2011

Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes.

Authors:
Frauke Coppieters Ingele Casteels Françoise Meire Sarah De Jaegere Sally Hooghe Nicole van Regemorter Hilde Van Esch Ausra Matuleviciene Luis Nunes Valérie Meersschaut Sophie Walraedt Lieve Standaert Paul Coucke Heidi Hoeben Hester Y Kroes Johan Vande Walle Thomy de Ravel Bart P Leroy Elfride De Baere

Hum Mutat 2010 Oct;31(10):E1709-66

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

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1002/humu.21336DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3048164PMC
October 2010

Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency.

Authors:
Marjolijn Renard Tammy Holm Regan Veith Bert L Callewaert Lesley C Adès Osman Baspinar Angela Pickart Majed Dasouki Juliane Hoyer Anita Rauch Pamela Trapane Michael G Earing Paul J Coucke Lynn Y Sakai Harry C Dietz Anne M De Paepe Bart L Loeys

Eur J Hum Genet 2010 Aug 14;18(8):895-901. Epub 2010 Apr 14.

Center for Medical Genetics, University Hospital Ghent, De Pintelaan 185, Ghent, Belgium.

View Article

Download full-text PDF

 Source
http://www.nature.com/articles/ejhg201045
Publisher Site
http://dx.doi.org/10.1038/ejhg.2010.45DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987390PMC
August 2010

Analysing 454 amplicon resequencing experiments using the modular and database oriented Variant Identification Pipeline.

Authors:
Joachim M De Schrijver Kim De Leeneer Steve Lefever Nick Sabbe Filip Pattyn Filip Van Nieuwerburgh Paul Coucke Dieter Deforce Jo Vandesompele Sofie Bekaert Jan Hellemans Wim Van Criekinge

BMC Bioinformatics 2010 May 20;11:269. Epub 2010 May 20.

Laboratory for Bioinformatics and Computational Genomics, Department of Molecular Biotechnology, Ghent University, 9000 Ghent, Belgium.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1186/1471-2105-11-269DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2880033PMC
May 2010