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Yvonne Hilhorst-Hofstee
Researcher at Leiden University Medical Center
Publications - 59
Citations - 5028
Yvonne Hilhorst-Hofstee is an academic researcher from Leiden University Medical Center. The author has contributed to research in topics: Marfan syndrome & Aortic dissection. The author has an hindex of 24, co-authored 55 publications receiving 4321 citations. Previous affiliations of Yvonne Hilhorst-Hofstee include Leiden University.
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Journal ArticleDOI
The revised Ghent nosology for the Marfan syndrome
Bart Loeys,Harry C. Dietz,Alan C. Braverman,Bert Callewaert,Julie De Backer,Richard B. Devereux,Yvonne Hilhorst-Hofstee,Guillaume Jondeau,Laurence Faivre,Dianna M. Milewicz,Reed E. Pyeritz,Paul D. Sponseller,Paul Wordsworth,Anne De Paepe +13 more
TL;DR: A revised Ghent nosology is established, which puts more weight on the cardiovascular manifestations and in which aortic root aneurysm and ectopia lentis are the cardinal clinical features and may delay a definitive diagnosis of MFS but will decrease the risk of premature or misdiagnosis.
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Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis
Ingrid M.B.H. van de Laar,Rogier A. Oldenburg,Gerard Pals,Jolien W. Roos-Hesselink,Bianca M. de Graaf,Judith M.A. Verhagen,Yvonne M. Hoedemaekers,Rob Willemsen,Lies-Anne Severijnen,Hanka Venselaar,Gert Vriend,Peter M. T. Pattynama,Margriet Collée,Danielle Majoor-Krakauer,Don Poldermans,Ingrid M.E. Frohn-Mulder,Dimitra Micha,Janneke Timmermans,Yvonne Hilhorst-Hofstee,Sita M A Bierma-Zeinstra,Patrick Willems,Johan M. Kros,Edwin H.G. Oei,Ben A. Oostra,Marja W. Wessels,Aida M. Bertoli-Avella +25 more
TL;DR: The TGF-β pathway is endorsed as the primary pharmacological target for the development of new treatments for aortic aneurysms and osteoarthritis.
Journal ArticleDOI
Homozygous and heterozygous expression of a novel insulin-like growth factor-I mutation
M.J.E. Walenkamp,Marcel Karperien,Alberto M. Pereira,Yvonne Hilhorst-Hofstee,J. van Doorn,Jian-Wen Chen,Subburaman Mohan,Adam Denley,Briony E. Forbes,H.A. van Duyvenvoorde,S. W. van Thiel,C. A. Sluimers,Jeroen J. Bax,J. A. P. M. de Laat,M. B Breuning,Johannes A. Romijn,Jan M. Wit +16 more
TL;DR: The phenotype of a 55-yr-old male, the first child of consanguineous parents, presenting with severe intrauterine and postnatal growth retardation, microcephaly, and sensorineural deafness, reflects the GH-independent secretion of IGF-I in utero, in agreement with the hypothesis that IGF- I secretion in childhood is mainly GH dependent.
Journal ArticleDOI
SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype
Chantal Stoepker,Karolina Hain,Beatrice Schuster,Yvonne Hilhorst-Hofstee,Martin A. Rooimans,Jurgen Steltenpool,Anneke B. Oostra,Katharina Eirich,E. T. Korthof,A. W. M. Nieuwint,Nicolaas G. J. Jaspers,Thomas Bettecken,H Joenje,Detlev Schindler,John Rouse,J.P. de Winter +15 more
TL;DR: These individuals, who were previously diagnosed as having Fanconi anemia, add SLX4 as an essential component to the FA-BRCA genome maintenance pathway.
Journal ArticleDOI
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome
Gijs W. E. Santen,Emmelien Aten,Yu Sun,Rowida Almomani,Christian Gilissen,Maartje Nielsen,Sarina G. Kant,Irina N. Snoeck,Els A. J. Peeters,Yvonne Hilhorst-Hofstee,Marja W. Wessels,Nicolette S. den Hollander,Claudia A. L. Ruivenkamp,Gert-Jan B. van Ommen,Martijn H. Breuning,Johan T. den Dunnen,Arie van Haeringen,Arie van Haeringen,Marjolein Kriek +18 more
TL;DR: Results indicate that haploinsufficiency of the ARID1B gene, which encodes an epigenetic modifier of chromatin structure, is an important cause of CSS and is potentially a common cause of intellectual disability and speech impairment.