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Marjolijn Renard

Showing results (21-30 of 37) with videos related to

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The Biochemical Journal|October 29, 2010
Identification of binding partners interacting with the α1-N-propeptide of type V collagenSofie Symoens, Marjolijn Renard, Christelle Bonod-Bidaud, et al.
Orphanet Journal of Rare Diseases|September 5, 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 elastogenesisMahesh Kappanayil, Sheela Nampoothiri, Rajesh Kannan, et al.
Human Mutation|February 11, 2011
New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutationsBert Callewaert, Marjolijn Renard, Vishwanathan Hucthagowder, et al.
Human Molecular Genetics|April 21, 2020
Slc2a10 knock-out mice deficient in ascorbic acid synthesis recapitulate aspects of arterial tortuosity syndrome and display mitochondrial respiration defectsAnnekatrien Boel, Joyce Burger, Marine Vanhomwegen, et al.
Scientific Reports|May 18, 2018
Expressed repetitive elements are broadly applicable reference targets for normalization of reverse transcription-qPCR data in miceMarjolijn Renard, Suzanne Vanhauwaert, Marine Vanhomwegen, et al.
Orphanet Journal of Rare Diseases|February 28, 2013
Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneitySmail Hadj-Rabia, Bert L Callewaert, Emmanuelle Bourrat, et al.
International Journal of Cardiology|September 23, 2011
Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAADMarjolijn Renard, Bert Callewaert, Machteld Baetens, et al.
Plos One|March 4, 2014
Absence of cardiovascular manifestations in a haploinsufficient Tgfbr1 mouse modelMarjolijn Renard, Bram Trachet, Christophe Casteleyn, et al.
Human Mutation|May 5, 2011
Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromesMachteld Baetens, Lut Van Laer, Kim De Leeneer, et al.
European Journal of Human Genetics : EJHG|April 15, 2010
Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiencyMarjolijn Renard, Tammy Holm, Regan Veith, et al.
Pageof 4

Showing results (21-30 of 37) with videos related to

Sort By:
Pageof 4
The Biochemical Journal|October 29, 2010
Identification of binding partners interacting with the α1-N-propeptide of type V collagenSofie Symoens, Marjolijn Renard, Christelle Bonod-Bidaud, et al.
Orphanet Journal of Rare Diseases|September 5, 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 elastogenesisMahesh Kappanayil, Sheela Nampoothiri, Rajesh Kannan, et al.
Human Mutation|February 11, 2011
New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutationsBert Callewaert, Marjolijn Renard, Vishwanathan Hucthagowder, et al.
Human Molecular Genetics|April 21, 2020
Slc2a10 knock-out mice deficient in ascorbic acid synthesis recapitulate aspects of arterial tortuosity syndrome and display mitochondrial respiration defectsAnnekatrien Boel, Joyce Burger, Marine Vanhomwegen, et al.
Scientific Reports|May 18, 2018
Expressed repetitive elements are broadly applicable reference targets for normalization of reverse transcription-qPCR data in miceMarjolijn Renard, Suzanne Vanhauwaert, Marine Vanhomwegen, et al.
Orphanet Journal of Rare Diseases|February 28, 2013
Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneitySmail Hadj-Rabia, Bert L Callewaert, Emmanuelle Bourrat, et al.
International Journal of Cardiology|September 23, 2011
Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAADMarjolijn Renard, Bert Callewaert, Machteld Baetens, et al.
Plos One|March 4, 2014
Absence of cardiovascular manifestations in a haploinsufficient Tgfbr1 mouse modelMarjolijn Renard, Bram Trachet, Christophe Casteleyn, et al.
Human Mutation|May 5, 2011
Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromesMachteld Baetens, Lut Van Laer, Kim De Leeneer, et al.
European Journal of Human Genetics : EJHG|April 15, 2010
Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiencyMarjolijn Renard, Tammy Holm, Regan Veith, et al.
Pageof 4