H
Hans Kristian Ploos van Amstel
Researcher at Utrecht University
Publications - 38
Citations - 4060
Hans Kristian Ploos van Amstel is an academic researcher from Utrecht University. The author has contributed to research in topics: Germline mutation & Gene. The author has an hindex of 22, co-authored 37 publications receiving 3782 citations. Previous affiliations of Hans Kristian Ploos van Amstel include University Medical Center Utrecht.
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Journal ArticleDOI
A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma
Robert M. W. Hofstra,R.M. Landsvater,Isabella Ceccherini,Rein P. Stulp,T. Stelwagen,Yin Luo,Barbara Pasini,Jo W.M. Höppener,Hans Kristian Ploos van Amstel,Giovanni Romeo,Cornells J. M. Lips,Charles H.C.M. Buys +11 more
TL;DR: It is shown that MEN 2B is also associated with mutation of the RET proto-oncogene, and a mutation in codon 664, causing the substitution of a threonine for a methionine in the tyrosine kinase domain of the protein, was found in all nine unrelated men 2B patients studied.
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The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis.
Charis Eng,Charis Eng,David Clayton,I Schuffenecker,Gilbert M. Lenoir,Gilbert J. Cote,Robert F. Gagel,Hans Kristian Ploos van Amstel,Cornelis J.M. Lips,Isamu Nishisho,Shin ichiro Takai,Deborah J. Marsh,Deborah J. Marsh,Bruce G. Robinson,Karin Frank-Raue,Friedhelm Raue,Feiyu Xue,Walter W. Noll,Cristina Romei,Furio Pacini,Monika Fink,Bruno Niederle,Jan Zedenius,Magnus Nordenskjöld,Paul Komminoth,Geoffrey N. Hendy,Hossein Gharib,Stephen N. Thibodeau,André Lacroix,Andrea Frilling,Bruce A.J. Ponder,Bruce A.J. Ponder,Lois M. Mulligan +32 more
TL;DR: It is suggested that genotype-phenotype correlations do exist and, if made reliably absolute, could prove useful in the future in clinical management with respect to screening, surveillance, and prophylaxis, as well as provide insight into the genetic effects of particular mutations.
Journal ArticleDOI
Targeted sequencing by proximity ligation for comprehensive variant detection and local haplotyping
Paula J P de Vree,Elzo de Wit,Mehmet Yilmaz,Monique van de Heijning,Petra Klous,Marjon J.A.M. Verstegen,Yi Wan,Hans Teunissen,Peter H.L. Krijger,Geert Geeven,Paul P. Eijk,Daoud Sie,Bauke Ylstra,Lorette O M Hulsman,Marieke F. van Dooren,Laura J. C. M. van Zutven,Ans M.W. van den Ouweland,Sjef Verbeek,Ko Willems van Dijk,Marion Cornelissen,Atze T. Das,Ben Berkhout,Birgit Sikkema-Raddatz,Eva van den Berg,Pieter van der Vlies,Desiree Weening,Johan T. den Dunnen,Magdalena Matusiak,Mohamed Lamkanfi,Marjolijn J. L. Ligtenberg,Petra ter Brugge,Jos Jonkers,John A. Foekens,John W. M. Martens,Rob B. van der Luijt,Hans Kristian Ploos van Amstel,Max van Min,Erik Splinter,Wouter de Laat +38 more
TL;DR: Target locus amplification (TLA) is presented, a strategy to selectively amplify and sequence entire genes on the basis of the crosslinking of physically proximal sequences that enables robust detection of single nucleotide variants, structural variants and gene fusions in clinically relevant genes, and enables haplotyping.
Journal ArticleDOI
Mutations in WNT10A are present in more than half of isolated hypodontia cases
Marie-José H. van den Boogaard,Marijn Créton,Yvon Bronkhorst,Annemieke van der Hout,Eric A. M. Hennekam,Dick Lindhout,Marco S. Cune,Hans Kristian Ploos van Amstel +7 more
TL;DR: By including WNT10A in the DNA diagnostics of isolated tooth agenesis, the yield of molecular testing in this condition was significantly increased from 15% to 71%.
Journal ArticleDOI
Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes.
Ebun Aganna,L. J. Hammond,Philip N. Hawkins,Anna Aldea,Shane McKee,Hans Kristian Ploos van Amstel,Claudia Mischung,Koichi Kusuhara,Frank T. Saulsbury,Helen J. Lachmann,Alison Bybee,Elizabeth M. McDermott,Micaela La Regina,Juan I. Aróstegui,Josep M. Campistol,Sharron Worthington,Kevin P. High,Michael G. Molloy,Nicholas Baker,Jeff L. Bidwell,José L. Castañer,Margo Whiteford,P. L. Janssens-Korpola,Raffaele Manna,Richard J. Powell,Patricia Woo,Pilar Solis,Kirsten Minden,Joost Frenkel,Jordi Yagüe,R. Mirakian,Graham A. Hitman,Michael F. McDermott +32 more
TL;DR: The presence of TNFRSF1A shedding defects and low sTNFRSf1A levels in 3 families without a TNFRN1A mutation indicates that the genetic basis among patients with "TRAPS-like" features is heterogeneous.