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Bert Callewaert
Bert Callewaert
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Dirección de correo verificada de ugent.be
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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
23772010
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
18482006
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
5952007
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
4302006
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
3082008
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
3042017
Clinical validity of genes for heritable thoracic aortic aneurysm and dissection
M Renard, C Francis, R Ghosh, AF Scott, PD Witmer, LC Adès, ...
Journal of the American College of Cardiology 72 (6), 605-615, 2018
2262018
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
2172008
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-Beroud, BL Callewaert, AH Child, ...
Pediatrics 123 (1), 391-398, 2009
2072009
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
1982013
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), 1529-1538, 2017
1922017
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
1772012
Altered TGFβ 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
1662010
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
1572012
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
1572011
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
1562008
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, 1-6, 2013
1382013
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
1272012
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
1142009
ACTB loss-of-function mutations result in a pleiotropic developmental disorder
S Cuvertino, HM Stuart, KE Chandler, NA Roberts, R Armstrong, ...
The American Journal of Human Genetics 101 (6), 1021-1033, 2017
1062017
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