Bert Callewaert
Bert Callewaert
Unknown affiliation
Verified email at ugent.be
Title
Cited by
Cited by
Year
The revised Ghent nosology for the Marfan syndrome
BL Loeys, HC Dietz, AC Braverman, BL Callewaert, J De Backer, ...
Journal of medical genetics 47 (7), 476-485, 2010
15302010
Aneurysm syndromes caused by mutations in the TGF-β receptor
BL Loeys, U Schwarze, T Holm, BL Callewaert, GH Thomas, H Pannu, ...
New England Journal of Medicine 355 (8), 788-798, 2006
14112006
Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study
L Faivre, G Collod-Beroud, BL Loeys, A Child, C Binquet, E Gautier, ...
The American Journal of Human Genetics 81 (3), 454-466, 2007
4372007
Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome
PJ Coucke, A Willaert, MW Wessels, B Callewaert, N Zoppi, J De Backer, ...
Nature genetics 38 (4), 452-457, 2006
3322006
Ehlers-Danlos syndromes and Marfan syndrome
B Callewaert, F Malfait, B Loeys, A De Paepe
Best practice & research Clinical rheumatology 22 (1), 165-189, 2008
2502008
Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families
BL Callewaert, A Willaert, WS Kerstjens‐Frederikse, J De Backer, ...
Human mutation 29 (1), 150-158, 2008
1622008
Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations
L Faivre, A Masurel-Paulet, G Collod-Béroud, BL Callewaert, AH Child, ...
Pediatrics 123 (1), 391-398, 2009
1562009
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
C Redin, H Brand, RL Collins, T Kammin, E Mitchell, JC Hodge, ...
Nature genetics 49 (1), 36-45, 2017
1442017
Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD
M Renard, B Callewaert, M Baetens, L Campens, K MacDermot, JP Fryns, ...
International journal of cardiology 165 (2), 314-321, 2013
1422013
Altered TGF β signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency
M Renard, T Holm, R Veith, BL Callewaert, LC Adès, O Baspinar, ...
European Journal of Human Genetics 18 (8), 895-901, 2010
1332010
Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands
L Faivre, G Collod-Beroud, A Child, B Callewaert, BL Loeys, C Binquet, ...
Journal of medical genetics 45 (6), 384-390, 2008
1292008
Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria
S Symoens, D Syx, F Malfait, B Callewaert, J De Backer, O Vanakker, ...
Human mutation 33 (10), 1485-1493, 2012
1182012
The new Ghent criteria for Marfan syndrome: what do they change?
L Faivre, G Collod‐Beroud, L Adès, E Arbustini, A Child, BL Callewaert, ...
Clinical genetics 81 (5), 433-442, 2012
1142012
New insights into the pathogenesis of autosomal‐dominant cutis laxa with report of five ELN mutations
B Callewaert, M Renard, V Hucthagowder, B Albrecht, I Hausser, E Blair, ...
Human mutation 32 (4), 445-455, 2011
1062011
Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans
S Symoens, F Malfait, S D’hondt, B Callewaert, A Dheedene, W Steyaert, ...
Orphanet journal of rare diseases 8 (1), 154, 2013
982013
In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome
V Carmignac, J Thevenon, L Adès, B Callewaert, S Julia, ...
The American Journal of Human Genetics 91 (5), 950-957, 2012
902012
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly
DA Braun, J Rao, G Mollet, D Schapiro, MC Daugeron, W Tan, ...
Nature genetics 49 (10), 1529, 2017
742017
Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature
BL Callewaert, BL Loeys, A Ficcadenti, S Vermeer, M Landgren, ...
Human mutation 30 (3), 334-341, 2009
722009
Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa
B Callewaert, CT Su, T Van Damme, P Vlummens, F Malfait, O Vanakker, ...
Human mutation 34 (1), 111-121, 2013
692013
Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24–32 mutation
L Faivre, G Collod-Beroud, B Callewaert, A Child, C Binquet, E Gautier, ...
European Journal of Human Genetics 17 (4), 491-501, 2009
652009
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