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1

Ehlers-Danlos syndromes and Marfan syndrome

Bert Callewaert, Fransiska Malfait, Bart Loeys, Anne De Paepe

Journal:

Best Practice & Research Clinical Rheumatology

Year:

2008

Language:

english

File:

PDF, 681 KB

english, 2008

2

Recent progress towards a molecular understanding of Marfan syndrome

Harry C. Dietz, Bart Loeys, Luca Carta, Francesco Ramirez

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2005

Language:

english

File:

PDF, 112 KB

english, 2005

3

Left ventricular non-compaction with Ebstein anomaly attributed to a TPM1 mutation

Nijak, Aleksandra, Alaerts, Maaike, Kuiperi, Cuno, Corveleyn, Anniek, Suys, Bert, Paelinck, Bernard, Saenen, Johan, Van Craenenbroeck, Emeline, Van Laer, Lut, Loeys, Bart, Verstraeten, Aline

Journal:

European Journal of Medical Genetics

Year:

2017

Language:

english

File:

PDF, 799 KB

english, 2017

4

Loeys-Dietz syndrome: A possible solution for Akhenaten’s and his family’s mystery syndrome

Eshraghian, Ahad, Loeys, Bart

Journal:

South African Medical Journal

Year:

2012

Language:

english

File:

PDF, 1.55 MB

english, 2012

5

Bruck syndrome: neonatal presentation and natural course in three patients

J. G. Leroy, Lieve Nuytinck, Anne De Paepe, Magda De Rammelaere, Yves Gillerot, Alain Verloes, Bart Loeys, William De Groote

Journal:

Pediatric Radiology

Year:

1998

Language:

english

File:

PDF, 1.23 MB

english, 1998

6

Pectin characterisation in vegetable waste streams: A starting point for waste valorisation in the food industry

Christiaens, Stefanie, Uwibambe, Denyse, Uyttebroek, Maarten, Van Droogenbroeck, Bart, Van Loey, Ann M., Hendrickx, Marc E.

Journal:

Lebensmittel-Wissenschaft und-Technologie / Food Science and Technology

Year:

2015

Language:

english

File:

PDF, 881 KB

english, 2015

7

The Impact of Simplified Boundary Conditions and Aortic Arch Inclusion on CFD Simulations in the Mouse Aorta: A Comparison With Mouse-specific Reference Data

Trachet, Bram, Bols, Joris, De Santis, Gianluca, Vandenberghe, Stefaan, Loeys, Bart, Segers, Patrick

Journal:

Journal of Biomechanical Engineering

Year:

2011

Language:

english

File:

PDF, 10.44 MB

english, 2011

8

Osteogenesis Imperfecta || Transforming Growth Factor Beta and Bone

Year:

2014

Language:

english

File:

PDF, 548 KB

english, 2014

9

Aetiology and management of hereditary aortopathy

Verstraeten, Aline, Luyckx, Ilse, Loeys, Bart

Journal:

Nature Reviews Cardiology (formerly Nature Clinical Practice Cardiovascular Medicine)

Year:

2017

Language:

english

File:

PDF, 812 KB

english, 2017

10

Aortic aneurysm: An underestimated serious finding in the EP300 mutation phenotypical spectrum

Luyckx, Ilse, Bolar, Nikhita, Diness, Birgitte Rode, Hove, Hanne B., Verstraeten, Aline, Loeys, Bart L.

Journal:

European Journal of Medical Genetics

Year:

2018

Language:

english

File:

PDF, 130 KB

english, 2018

11

Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome

Meester, Josephina A. N., Verstraeten, Aline, Schepers, Dorien, Alaerts, Maaike, Van Laer, Lut, Loeys, Bart L.

Journal:

Annals of cardiothoracic surgery

Year:

2017

Language:

english

File:

PDF, 267 KB

english, 2017

12

Comparing the impact of high pressure, pulsed electric field and thermal pasteurization on quality attributes of cloudy apple juice using targeted and untargeted analyses

Wibowo, Scheling, Essel, Esther Aba, de Man, Sofie, Bernaert, Nathalie, Van Droogenbroeck, Bart, Grauwet, Tara, Van Loey, Ann, Hendrickx, Marc

Journal:

Innovative Food Science & Emerging Technologies

Year:

2019

Language:

english

File:

PDF, 5.14 MB

english, 2019

13

The Meier-Gorlin syndrome, or ear-patella-short stature syndrome, in sibs

Loeys, Bart L., Lemmerling, Marc M., Van Mol, Christine E., Leroy, Jules G.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 480 KB

english, 1999

14

DUP25 remains unconfirmed

Stefan J. Vermeulen, Björn Menten, Sylvia De Bie, Paul Coucke, Bart Loeys, Fransiska Malfait, Julie De Backer, Frank Speleman, Anne De Paepe

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 70 KB

english, 2004

15

The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): Report of eight cases including a living child and further evidence for autosomal recessive inheritance

David Chitayat, Hana Sroka, Sarah Keating, Randall S. Colby, Greg Ryan, Ants Toi, Susan Blaser, Sandra Viero, Louise Devisme, Odile Boute-Bénéjean, Sylvie Manouvrier-Hanu, Geert Mortier, Bart Loeys, A

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 554 KB

english, 2007

16

Familial thoracic aortic dilation and bicommissural aortic valve: A prospective analysis of natural history and inheritance

Melissa L. Loscalzo, Denise LM Goh, Bart Loeys, Kathleen C. Kent, Philip J. Spevak, Harry C. Dietz

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 126 KB

english, 2007

17

The 8th international research symposium on the Marfan Syndrome and related conditions

Reed E. Pyeritz, Bart Loeys

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 127 KB

english, 2012

18

The molecular basis of classic Ehlers-Danlos syndrome: A comprehensive study of biochemical and molecular findings in 48 unrelated patients

Fransiska Malfait, Paul Coucke, Sofie Symoens, Bart Loeys, Lieve Nuytinck, Anne De Paepe

Journal:

Year:

2005

Language:

english

File:

PDF, 198 KB

english, 2005

19

Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: Report of 14 novel mutations and review of the literature

Bert L. Callewaert, Bart L. Loeys, Anna Ficcadenti, Sascha Vermeer, Magnus Landgren, Hester Y. Kroes, Yuval Yaron, Michael Pope, Nicola Foulds, Odile Boute, Francisco Galán, Helen Kingston, Nathalie V

Journal:

Year:

2009

Language:

english

File:

PDF, 205 KB

english, 2009

20

Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1

Wenke Seifert, Muriel Holder-Espinasse, Jirko Kühnisch, Kimia Kahrizi, Andreas Tzschach, Masoud Garshasbi, Hossein Najmabadi, Andreas Walter Kuss, Wolfram Kress, Geneviève Laureys, Bart Loeys, Eva Bri

Journal:

Year:

2009

Language:

english

File:

PDF, 1.09 MB

english, 2009

21

COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome

Sofie Symoens, Fransiska Malfait, Marjolijn Renard, Josette André, Ingrid Hausser, Bart Loeys, Paul Coucke, Anne De Paepe

Journal:

Year:

2009

Language:

english

File:

PDF, 420 KB

english, 2009

22

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

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

Journal:

Year:

2011

Language:

english

File:

PDF, 498 KB

english, 2011

23

Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart

Olivier M. Vanakker, Bart P. Leroy, Paul Coucke, Lionel G. Bercovitch, Jouni Uitto, Dennis Viljoen, Sharon F. Terry, Petra Van Acker, Dirk Matthys, Bart Loeys, Anne De Paepe

Journal:

Year:

2008

Language:

english

File:

PDF, 200 KB

english, 2008

24

Identification of copy number variants associated with BPES-like phenotypes

Antoinet C. J. Gijsbers, Barbara D’haene, Yvonne Hilhorst-Hofstee, Marcel Mannens, Beate Albrecht, Joerg Seidel, David R. Witt, Melissa K. Maisenbacher, Bart Loeys, Ton van Essen, Egbert Bakker, Raoul

Journal:

Year:

2008

Language:

english

File:

PDF, 605 KB

english, 2008

25

An Integrated Framework to Quantitatively Link Mouse-Specific Hemodynamics to Aneurysm Formation in Angiotensin II-infused ApoE −/− mice

Bram Trachet, Marjolijn Renard, Gianluca De Santis, Steven Staelens, Julie De Backer, Luca Antiga, Bart Loeys, Patrick Segers

Journal:

Annals of Biomedical Engineering

Year:

2011

Language:

english

File:

PDF, 952 KB

english, 2011

26

Replacing Vascular Corrosion Casting byIn VivoMicro-CT Imaging for Building 3D Cardiovascular Models in Mice

Bert Vandeghinste, Bram Trachet, Marjolijn Renard, Christophe Casteleyn, Steven Staelens, Bart Loeys, Patrick Segers, Stefaan Vandenberghe

Journal:

Molecular Imaging and Biology

Year:

2011

Language:

english

File:

PDF, 440 KB

english, 2011

27

The diagnostic value of the facial features of Marfan syndrome

Beverlie L. Ting, Deepti Mathur, Bart L. Loeys, Harry C. Dietz, Paul D. Sponseller

Journal:

Journal of Children's Orthopaedics

Year:

2010

Language:

english

File:

PDF, 160 KB

english, 2010

28

New insights into the pathogenesis and treatment of arterial aneurysms and dissections

Bert L. Callewaert, Anne M. De Paepe, Bart L. Loeys

Journal:

Current Cardiovascular Risk Reports

Year:

2007

Language:

english

File:

PDF, 1.20 MB

english, 2007

29

Preventing the aortic complications of Marfan syndrome: a case-example of translational genomic medicine

Alain Li-Wan-Po, Bart Loeys, Peter Farndon, David Latham, Caroline Bradley

Journal:

British Journal of Clinical Pharmacology

Year:

2011

Language:

english

File:

PDF, 1.05 MB

english, 2011

30

Telomeric refinement of the MCKD1 locuson chromosome 1q211

WOLF, MATTHIAS T F, VAN VLEM, BRUNO, HENNIES, HANS C, ZALEWSKI, ISABELLA, KARLE, STEPHANIE M, PUETZ, MARKUS, PANTHER, FRANZISKA, OTTO, EDGAR, FUCHSHUBER, ARNO, LAMEIRE, NORBERT, LOEYS, BART, HILDEBRAN

Journal:

Kidney International

Year:

2004

Language:

english

File:

PDF, 124 KB

english, 2004

31

Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [FBN1]

Arslan-Kirchner, Mine, Arbustini, Eloisa, Boileau, Catherine, Child, Anne, Collod-Beroud, Gwenaelle, De Paepe, Anne, Epplen, Jörg, Jondeau, Guillaume, Loeys, Bart, Faivre, Laurence

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 207 KB

english, 2010

32

New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish

Morris-Rosendahl, Deborah J, Segel, Reeval, Born, A Peter, Conrad, Christoph, Loeys, Bart, Brooks, Susan Sklower, Müller, Laura, Zeschnigk, Christine, Botti, Christina, Rabinowitz, Ron

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 740 KB

english, 2010

33

Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes

Arslan-Kirchner, Mine, Epplen, Jörg T, Faivre, Laurence, Jondeau, Guillaume, Schmidtke, Jörg, De Paepe, Anne, Loeys, Bart

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 198 KB

english, 2011

34

Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions

Vergult, Sarah, Krgovic, Danijela, Loeys, Bart, Lyonnet, Stanislas, Liedén, Agne, Anderlid, Britt-Marie, Sharkey, Freddie, Joss, Shelagh, Mortier, Geert, Menten, Björn

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 350 KB

english, 2011

35

Mutation of TBCE causes hypoparathyroidism–retardation–dysmorphism and autosomal recessive Kenny–Caffey syndrome

Parvari, Ruti, Hershkovitz, Eli, Grossman, Nili, Gorodischer, Rafael, Loeys, Bart, Zecic, Alexandra, Mortier, Geert, Gregory, Simon, Sharony, Reuven, Kambouris, Marios

Journal:

Nature Genetics

Year:

2002

Language:

english

File:

PDF, 758 KB

english, 2002

36

A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2

Loeys, Bart L, Chen, Junji, Neptune, Enid R, Judge, Daniel P, Podowski, Megan, Holm, Tammy, Meyers, Jennifer, Leitch, Carmen C, Katsanis, Nicholas, Sharifi, Neda

Journal:

Nature Genetics

Year:

2005

Language:

english

File:

PDF, 819 KB

english, 2005

37

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

Otto, Edgar A, Loeys, Bart, Khanna, Hemant, Hellemans, Jan, Sudbrak, Ralf, Fan, Shuling, Muerb, Ulla, O'Toole, John F, Helou, Juliana, Attanasio, Massimo

Journal:

Nature Genetics

Year:

2005

Language:

english

File:

PDF, 461 KB

english, 2005

38

Corrigendum: Angiotensin II type 1 receptor blockade attenuates TGF-β–induced failure of muscle regeneration in multiple myopathic states

Cohn, Ronald D, van Erp, Christel, Habashi, Jennifer P, Soleimani, Arshia A, Klein, Erin C, Lisi, Matthew T, Gamradt, Matthew, ap Rhys, Colette M, Holm, Tammy M, Loeys, Bart L

Journal:

Nature Medicine

Year:

2007

Language:

english

File:

PDF, 258 KB

english, 2007

39

Angiotensin II type 1 receptor blockade attenuates TGF-β–induced failure of muscle regeneration in multiple myopathic states

Cohn, Ronald D, van Erp, Christel, Habashi, Jennifer P, Soleimani, Arshia A, Klein, Erin C, Lisi, Matthew T, Gamradt, Matthew, ap Rhys, Colette M, Holm, Tammy M, Loeys, Bart L

Journal:

Nature Medicine

Year:

2007

Language:

english

File:

PDF, 729 KB

english, 2007

40

Homozygous Missense Mutation in Fibulin-5 in an Iranian Autosomal Recessive Cutis Laxa Pedigree and Associated Haplotype

Elahi, Elahe, Kalhor, Reza, Banihosseini, Setareh S, Torabi, Noorossadat, Pour-Jafari, Hamid, Houshmand, Massoud, Amini, Seyed S H, Ramezani, Ahmad, Loeys, Bart

Journal:

The Journal of Investigative Dermatology

Year:

2006

Language:

english

File:

PDF, 84 KB

english, 2006

41

Pseudoxanthoma Elasticum-Like Phenotype with Cutis Laxa and Multiple Coagulation Factor Deficiency Represents a Separate Genetic Entity

Vanakker, Olivier M, Martin, Ludovic, Gheduzzi, Dealba, Leroy, Bart P, Loeys, Bart L, Guerci, Veronica I, Matthys, Dirk, Terry, Sharon F, Coucke, Paul J, Pasquali-Ronchetti, Ivonne

Journal:

The Journal of Investigative Dermatology

Year:

2006

Language:

english

File:

PDF, 223 KB

english, 2006

42

Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy

Pia Ostergaard, Michael A. Simpson, Antonella Mendola, Pradeep Vasudevan, Fiona C. Connell, Andreas van Impel, Anthony T. Moore, Bart L. Loeys, Arash Ghalamkarpour, Alexandros Onoufriadis, Ines Martin

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 362 KB

english, 2012

43

Aortic dissection in a young man with Loeys–Dietz syndrome

Vojtech Melenovsky, Marek Adamira, Dana Kautznerova, Ludek Voska, Jiri Weichet, Bart Loeys, Jan Pirk

Journal:

The Journal of Thoracic and Cardiovascular Surgery

Year:

2008

Language:

english

File:

PDF, 426 KB

english, 2008

44

Educational paper

Laer, Lut, Proost, Dorien, Loeys, Bart L.

Journal:

European Journal of Pediatrics

Year:

2013

Language:

english

File:

PDF, 277 KB

english, 2013

45

Challenges for CNV interpretation in clinical molecular karyotyping: Lessons learned from a 1001 sample experience

Karen Buysse, Barbara Delle Chiaie, Rudy Van Coster, Bart Loeys, Anne De Paepe, Geert Mortier, Frank Speleman, Björn Menten

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 379 KB

english, 2009

46

Early Surgical Experience With Loeys-Dietz: A New Syndrome of Aggressive Thoracic Aortic Aneurysm Disease

Jason A. Williams, Bart L. Loeys, Lois U. Nwakanma, Harry C. Dietz, Philip J. Spevak, Nishant D. Patel, Katrien François, Julie DeBacker, Vincent L. Gott, Luca A. Vricella, Duke E. Cameron

Journal:

The Annals of Thoracic Surgery

Year:

2007

Language:

english

File:

PDF, 315 KB

english, 2007

47

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

Karen Buysse, Francesca Antonacci, Bert Callewaert, Bart Loeys, Ulrike Fränkel, Victoria Siu, Geert Mortier, Frank Speleman, Björn Menten

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 450 KB

english, 2009

48

Expanding the phenotype of sudden cardiac death—An unusual presentation of a family with a Lamin A/C mutation

Julie De Backer, Katarina Van Beeumen, Bart Loeys, Mattias Duytschaever

Journal:

International Journal of Cardiology

Year:

2010

Language:

english

File:

PDF, 154 KB

english, 2010

49

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

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

Journal:

International Journal of Cardiology

Year:

2012

Language:

english

File:

PDF, 253 KB

english, 2012

50

Overall intelligibility, language, articulation, voice and resonance characteristics in a child with Shprintzen–Goldberg syndrome

Kristiane M. Van Lierde, Geert Mortier, Bart Loeys, Nele Baudonck, Sofia De Ley, Luc A. Marks, John Van Borsel

Journal:

International Journal of Pediatric Otorhinolaryngology

Year:

2007

Language:

english

File:

PDF, 266 KB

english, 2007