Lut Van Laer

Mutation of the iron-sulfur cluster assembly IBA57 gene causes lethal myopathy and encephalopathy

N Ajit Bolar, Arnaud Vanlander (UGent) , C Wilbrecht, Nathalie Van der Aa, Joél Smet (UGent) , Boel De Paepe (UGent) , G Vandeweyer, F Kooy, François Eyskens, Elien De Latter (UGent) , et al.

(2013) EUROPEAN JOURNAL OF HUMAN GENETICS. 21(suppl. 2). p.30-30

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A homozygous mutation in IBA57 involved in intramitochondrial iron-sulfur cluster synthesis causes severe encephalopathy and mypathy in two neonates

Arnaud Vanlander (UGent) , Claudia Willbrecht, Nikhita Ajit Bolar, Joél Smet (UGent) , Boel De Paepe (UGent) , Elien De Latter (UGent) , Lut Van Laer (UGent) , Bart Loeys (UGent) , Roland Lill and Rudy Van Coster (UGent)

(2013) EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY. 17(suppl. 1). p.S5-S6

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Familial aggregation of pure tone hearing thresholds in an aging European population

Jan-Jaap Hendrickx, Jeroen R Huyghe, Vedat Topsakal, Kelly Demeester, Thomas R Wienker, Lut Van Laer (UGent) , Els Van Eyken, Erik Fransen, Elina Mäki-Torkko, Samuli Hannula, et al.

(2013) OTOLOGY & NEUROTOLOGY. 34(5). p.838-844

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Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy

Nikhita Ajit Bolar, Arnaud Vanlander (UGent) , Claudia Wilbrecht, Nathalie Van der Aa, Joél Smet (UGent) , Boel De Paepe (UGent) , Geert Vandeweyer, Frank Kooy, François Eyskens, Elien De Latter (UGent) , et al.

(2013) HUMAN MOLECULAR GENETICS. 22(13). p.2590-2602

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

Denise van der Linde, Ingrid MBH van de Laar, Aida M Bertoli-Avella, Rogier A Oldenburg, Jos A Bekkers, Francesco US Mattace-Raso, Anton H van den Meiracker, Adriaan Moelker, Fop van Kooten, Ingrid ME Frohn-Mulder, et al.

(2012) JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY. 60(5). p.397-403

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

Machteld Baetens (UGent) , Lut Van Laer (UGent) , Kim De Leeneer (UGent) , Jan Hellemans, Joachim De Schrijver (UGent) , Hendrik Van de Voorde (UGent) , Marjolijn Renard (UGent) , Hal Dietz, Ronald V Lacro, Björn Menten (UGent) , et al.

(2011) HUMAN MUTATION. 32(9). p.1053-1062

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Journal Article
A1
open access

Vitamin K does not prevent soft tissue mineralization in a mouse model of pseudoxanthoma elasticum

Christopher Brampton, Yukiko Yamaguchi, Olivier Vanakker (UGent) , Lut Van Laer (UGent) , Li-Hsieh Chen, Manoj Thakore, Anne De Paepe (UGent) , Viola Pomozi, Pal T Szabo, Ludovic Martin, et al.

(2011) CELL CYCLE. 10(11). p.1810-1820

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Het Marfansyndroom : een paradigma voor de studie van aorta-aneurysma's

Julie De Backer (UGent) , Marjolijn Renard (UGent) , Paul Coucke (UGent) , Lut Van Laer (UGent) , Anne De Paepe (UGent) and Bart Loeys (UGent)

(2010) TIJDSCHRIFT VOOR GENEESKUNDE. 66(21). p.1024-1028

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Musculocontractural ehlers-danlos syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene

Fransiska Malfait (UGent) , Delfien Syx (UGent) , Philip Vlummens (UGent) , Sofie Symoens (UGent) , Sheela Nampoothiri, Trinh Hermanns-Le, Lut Van Laer (UGent) and Anne De Paepe (UGent)

(2010) HUMAN MUTATION. 31(11). p.1233-1239

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Journal Article
A1
open access

Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region

Laura Costrop (UGent) , Olivier Vanakker (UGent) , Lut Van Laer (UGent) , Olivier Le Saux (UGent) , L Martin, N Chassaing, D Guerra, I Pasquali-Ronchetti, Paul Coucke (UGent) and Anne De Paepe (UGent)

(2010) JOURNAL OF HUMAN GENETICS. 55(2). p.112-117

Academic Bibliography

Lut Van Laer

Mutation of the iron-sulfur cluster assembly IBA57 gene causes lethal myopathy and encephalopathy

A homozygous mutation in IBA57 involved in intramitochondrial iron-sulfur cluster synthesis causes severe encephalopathy and mypathy in two neonates

Familial aggregation of pure tone hearing thresholds in an aging European population

Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy

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

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

Vitamin K does not prevent soft tissue mineralization in a mouse model of pseudoxanthoma elasticum

Het Marfansyndroom : een paradigma voor de studie van aorta-aneurysma's

Musculocontractural ehlers-danlos syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene

Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region

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