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Novel LOX Variants in Five Families with Aortic/Arterial Aneurysm and Dissection with Variable Connective Tissue Findings.
Published in:
International Journal of Molecular Sciences, 2021, v. 22, n. 13, p. 7111, doi. 10.3390/ijms22137111
By:
- Van Gucht, Ilse;
- Krebsova, Alice;
- Diness, Birgitte Rode;
- Laga, Steven;
- Adlam, Dave;
- Kempers, Marlies;
- Samani, Nilesh J.;
- Webb, Tom R.;
- Baranowska, Ania A.;
- Van Den Heuvel, Lotte;
- Perik, Melanie;
- Luyckx, Ilse;
- Peeters, Nils;
- Votypka, Pavel;
- Macek, Milan;
- Meester, Josephina;
- Van Laer, Lut;
- Verstraeten, Aline;
- Loeys, Bart L.
Publication type:
Article
Two novel presentations of KCNMA1‐related pathology––Expanding the clinical phenotype of a rare channelopathy.
Published in:
Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 10, p. 1, doi. 10.1002/mgg3.1797
By:
- Rodrigues Bento, Jotte;
- Feben, Candice;
- Kempers, Marlies;
- van Rij, Maartje;
- Woiski, Mallory;
- Devriendt, Koenraad;
- De Catte, Luc;
- Baldewijns, Marcella;
- Alaerts, Maaike;
- Meester, Josephina;
- Verstraeten, Aline;
- Hendson, Willy;
- Loeys, Bart
Publication type:
Article
Adams–Oliver syndrome caused by mutations of the EOGT gene.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 11, p. 2246, doi. 10.1002/ajmg.a.61313
By:
- Schröder, Kim C.;
- Duman, Duygu;
- Tekin, Mustafa;
- Schanze, Denny;
- Sukalo, Maja;
- Meester, Josephina;
- Wuyts, Wim;
- Zenker, Martin
Publication type:
Article
Functional Analysis of DNMT1 SNPs (rs2228611 and rs2114724) Associated with Schizophrenia.
Published in:
Genetics Research, 2021, p. 1, doi. 10.1155/2021/6698979
By:
- Saxena, Sonal;
- Maroju, Pranay Amruth;
- Choudhury, Sumana;
- Voina, Vidhya Chitta;
- Naik, Poonam;
- Gowdhaman, Kavitha;
- Kkani, Poornima;
- Chennoju, Kiranmai;
- Ganesh Kumar, S.;
- Ramasubramanian, C.;
- Prasad Rao, G.;
- Jamma, Trinath;
- Narayan, Kumar Pranav;
- Mohan, K. Naga;
- Meester, Josephina
Publication type:
Article
Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections.
Published in:
2017
By:
- Ogunjimi, Benson;
- Shen-Ying Zhang;
- Sørensen, Katrine B.;
- Skipper, Kristian A.;
- Carter-Timofte, Madalina;
- Kerner, Gaspard;
- Luecke, Stefanie;
- Prabakaran, Thaneas;
- Yujia Cai;
- Meester, Josephina;
- Bartholomeus, Esther;
- Bolar, Nikhita Ajit;
- Vandeweyer, Geert;
- Claes, Charlotte;
- Sillis, Yasmine;
- Lorenzo, Lazaro;
- Fiorenza, Raffaele A.;
- Boucherit, Soraya;
- Dielman, Charlotte;
- Heynderickx, Steven
Publication type:
journal article
Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing.
Published in:
Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-020-80755-7
By:
- Nayak, Shalini S.;
- Schneeberger, Pauline E.;
- Patil, Siddaramappa J.;
- Arun, Karegowda M.;
- Suresh, Pujar V.;
- Kiran, Viralam S.;
- Siddaiah, Sateesh;
- Maiya, Shreesha;
- Venkatachalagupta, Shrikanth K.;
- Kausthubham, Neethukrishna;
- Kortüm, Fanny;
- Rau, Isabella;
- Wey-Fabrizius, Alexandra;
- Van Den Heuvel, Lotte;
- Meester, Josephina;
- Van Laer, Lut;
- Shukla, Anju;
- Loeys, Bart;
- Girisha, Katta M.;
- Kutsche, Kerstin
Publication type:
Article
Isolated aneurysmal disease as an underestimated finding in individuals with JAG1 pathogenic variants.
Published in:
Human Mutation, 2022, v. 43, n. 12, p. 1824, doi. 10.1002/humu.24433
By:
- Rodrigues Bento, Jotte;
- Krebsová, Alice;
- Van Gucht, Ilse;
- Valdivia Callejon, Irene;
- Van Berendoncks, An;
- Votypka, Pavel;
- Luyckx, Ilse;
- Peldova, Petra;
- Laga, Steven;
- Havelka, Marek;
- Van Laer, Lut;
- Trunecka, Pavel;
- Boeckx, Nele;
- Verstraeten, Aline;
- Macek, Milan;
- Meester, Josephina A. N.;
- Loeys, Bart
Publication type:
Article
The fibrillinopathies: New insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2.
Published in:
Human Mutation, 2022, v. 43, n. 7, p. 815, doi. 10.1002/humu.24383
By:
- Peeters, Silke;
- De Kinderen, Pauline;
- Meester, Josephina A. N.;
- Verstraeten, Aline;
- Loeys, Bart L.
Publication type:
Article
Elucidating the genetic architecture of Adams–Oliver syndrome in a large European cohort.
Published in:
Human Mutation, 2018, v. 39, n. 9, p. 1246, doi. 10.1002/humu.23567
By:
- Meester, Josephina A. N.;
- Sukalo, Maja;
- Schröder, Kim C.;
- Schanze, Denny;
- Baynam, Gareth;
- Borck, Guntram;
- Bramswig, Nuria C.;
- Duman, Duygu;
- Gilbert‐Dussardier, Brigitte;
- Holder‐Espinasse, Muriel;
- Itin, Peter;
- Johnson, Diana S.;
- Joss, Shelagh;
- Koillinen, Hannele;
- McKenzie, Fiona;
- Morton, Jenny;
- Nelle, Heike;
- Reardon, Willie;
- Roll, Claudia;
- Salih, Mustafa A.
Publication type:
Article
A mutation update on the LDS‐associated genes <italic>TGFB2/3</italic> and <italic>SMAD2/3</italic>.
Published in:
Human Mutation, 2018, v. 39, n. 5, p. 621, doi. 10.1002/humu.23407
By:
- Schepers, Dorien;
- Tortora, Giada;
- Morisaki, Hiroko;
- MacCarrick, Gretchen;
- Lindsay, Mark;
- Liang, David;
- Mehta, Sarju G.;
- Hague, Jennifer;
- Verhagen, Judith;
- van de Laar, Ingrid;
- Wessels, Marja;
- Detisch, Yvonne;
- van Haelst, Mieke;
- Baas, Annette;
- Lichtenbelt, Klaske;
- Braun, Kees;
- van der Linde, Denise;
- Roos‐Hesselink, Jolien;
- McGillivray, George;
- Meester, Josephina
Publication type:
Article
Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes.
Published in:
Human Mutation, 2015, v. 36, n. 8, p. 808, doi. 10.1002/humu.22802
By:
- Proost, Dorien;
- Vandeweyer, Geert;
- Meester, Josephina A.N.;
- Salemink, Simone;
- Kempers, Marlies;
- Ingram, Christie;
- Peeters, Nils;
- Saenen, Johan;
- Vrints, Christiaan;
- Lacro, Ronald V.;
- Roden, Dan;
- Wuyts, Wim;
- Dietz, Harry C.;
- Mortier, Geert;
- Loeys, Bart L.;
- Laer, Lut
Publication type:
Article
Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome.
Published in:
NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00413-z
By:
- Meester, Josephina A. N.;
- Hebert, Anne;
- Bastiaansen, Maaike;
- Rabaut, Laura;
- Bastianen, Jarl;
- Boeckx, Nele;
- Ashcroft, Kathryn;
- Atwal, Paldeep S.;
- Benichou, Antoine;
- Billon, Clarisse;
- Blankensteijn, Jan D.;
- Brennan, Paul;
- Bucks, Stephanie A.;
- Campbell, Ian M.;
- Conrad, Solène;
- Curtis, Stephanie L.;
- Dasouki, Majed;
- Dent, Carolyn L.;
- Eden, James;
- Goel, Himanshu
Publication type:
Article
Variable clinical expression of a Belgian TGFB3 founder variant suggests the presence of a genetic modifier.
Published in:
Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1251675
By:
- Perik, Melanie H. A. M.;
- Govaerts, Emmanuela;
- Laga, Steven;
- Goovaerts, Inge;
- Saenen, Johan;
- Van Craenenbroeck, Emeline;
- Meester, Josephina A. N.;
- Luyckx, Ilse;
- Rodrigus, Inez;
- Verstraeten, Aline;
- Van Laer, Lut;
- Loeys, Bart L.
Publication type:
Article
Differentiation of Induced Pluripotent Stem Cells Into Chondrocytes: Methods and Applications for Disease Modeling and Drug Discovery.
Published in:
Journal of Bone & Mineral Research, 2022, v. 37, n. 3, p. 397, doi. 10.1002/jbmr.4524
By:
- De Kinderen, Pauline;
- Meester, Josephina;
- Loeys, Bart;
- Peeters, Silke;
- Gouze, Elvire;
- Woods, Steven;
- Mortier, Geert;
- Verstraeten, Aline
Publication type:
Article
Investigation of Strategies to Block Downstream Effectors of AT1R-Mediated Signalling to Prevent Aneurysm Formation in Marfan Syndrome.
Published in:
International Journal of Molecular Sciences, 2024, v. 25, n. 9, p. 5025, doi. 10.3390/ijms25095025
By:
- Valdivia Callejon, Irene;
- Buccioli, Lucia;
- Bastianen, Jarl;
- Schippers, Jolien;
- Verstraeten, Aline;
- Luyckx, Ilse;
- Peeters, Silke;
- Danser, A. H. Jan;
- Van Kimmenade, Roland R. J.;
- Meester, Josephina;
- Loeys, Bart
Publication type:
Article
Biglycan in the Skeleton.
Published in:
Journal of Histochemistry & Cytochemistry, 2020, v. 68, n. 11, p. 747, doi. 10.1369/0022155420937371
By:
- Kram, Vardit;
- Shainer, Reut;
- Jani, Priyam;
- Meester, Josephina A.N.;
- Loeys, Bart;
- Young, Marian F.
Publication type:
Article
Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor.
Published in:
Frontiers in Physiology, 2017, p. 1, doi. 10.3389/fphys.2017.00400
By:
- Gillis, Elisabeth;
- Kumar, Ajay A.;
- Luyckx, Ilse;
- Preuss, Christoph;
- Cannaerts, Elyssa;
- van de Beek, Gerarda;
- Wieschendorf, Björn;
- Alaerts, Maaike;
- Bolar, Nikhita;
- Vandeweyer, Geert;
- Meester, Josephina;
- Wünnemann, Florian;
- Gould, Russell A.;
- Zhurayev, Rustam;
- Zerbino, Dmytro;
- Mohamed, Salah A.;
- Mital, Seema;
- Mertens, Luc;
- Björck, Hanna M.;
- Franco-Cereceda, Anders
Publication type:
Article

Found: 17