Showing 1–20 of 20 results
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Research | | Open
Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant carriers
- Robert Blatter
- , Benjamin Tschupp
- , Stefan Aretz
- , Inge Bernstein
- , Chrystelle Colas
- , D. Gareth Evans
- , Maurizio Genuardi
- , Frederik J. Hes
- , Robert Hüneburg
- , Heikki Järvinen
- , Fiona Lalloo
- , Gabriela Moeslein
- , Laura Renkonen-Sinisalo
- , Nicoletta Resta
- , Isabel Spier
- , Dora Varvara
- , Hans Vasen
- , Andrew R. Latchford
- & Karl Heinimann
Genetics in Medicine 22 , 1524–1532 -
Amendments and Corrections | | Open
Erratum: Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia
- Stephanie A Schubert
- , Dina Ruano
- , Fadwa A Elsayed
- , Arnoud Boot
- , Stijn Crobach
- , Arantza Farina Sarasqueta
- , Bruce Wolffenbuttel
- , Melanie M van der Klauw
- , Jan Oosting
- , Carli M Tops
- , Ronald van Eijk
- , Hans FA Vasen
- , Rolf HAM Vossen
- , Maartje Nielsen
- , Sergi Castellví-Bel
- , Clara Ruiz-Ponte
- , Ian Tomlinson
- , Malcolm G Dunlop
- , Pavel Vodicka
- , Juul T Wijnen
- , Frederik J Hes
- , Hans Morreau
- , Noel FCC de Miranda
- , Rolf H Sijmons
- & Tom van Wezel
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Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing
- Ingrid P Vogelaar
- , Rachel S van der Post
- , J Han JM van Krieken
- , Liesbeth Spruijt
- , Wendy AG van Zelst-Stams
- , C Marleen Kets
- , Jan Lubinski
- , Anna Jakubowska
- , Urszula Teodorczyk
- , Cora M Aalfs
- , Liselotte P van Hest
- , Hugo Pinheiro
- , Carla Oliveira
- , Shalini N Jhangiani
- , Donna M Muzny
- , Richard A Gibbs
- , James R Lupski
- , Joep de Ligt
- , Lisenka E L M Vissers
- , Alexander Hoischen
- , Christian Gilissen
- , Maartje van de Vorst
- , Jelle J Goeman
- , Hans K Schackert
- , Guglielmina N Ranzani
- , Valeria Molinaro
- , Encarna B Gómez García
- , Frederik J Hes
- , Elke Holinski-Feder
- , Maurizio Genuardi
- , Margreet G E M Ausems
- , Rolf H Sijmons
- , Anja Wagner
- , Lizet E van der Kolk
- , Inga Bjørnevoll
- , Hildegunn Høberg-Vetti
- , Ad Geurts van Kessel
- , Roland P Kuiper
- , Marjolijn J L Ligtenberg
- & Nicoline Hoogerbrugge
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The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers
- Manon Suerink
- , Heleen M. van der Klift
- , Sanne W. ten Broeke
- , Olaf M. Dekkers
- , Inge Bernstein
- , Gabriel Capellá Munar
- , Encarna Gomez Garcia
- , Nicoline Hoogerbrugge
- , Tom G. W. Letteboer
- , Fred H. Menko
- , Annika Lindblom
- , Arjen Mensenkamp
- , Pal Moller
- , Theo A. van Os
- , Nils Rahner
- , Bert J. W. Redeker
- , Maran Olderode
- , Liesbeth Spruijt
- , Yvonne J. Vos
- , Anja Wagner
- , Hans Morreau
- , Frederik J. Hes
- , Hans F. A. Vasen
- , Carli M. Tops
- , Juul T. Wijnen
- & Maartje Nielsen
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Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia
- Stephanie A Schubert
- , Dina Ruano
- , Fadwa A Elsayed
- , Arnoud Boot
- , Stijn Crobach
- , Arantza Farina Sarasqueta
- , Bruce Wolffenbuttel
- , Melanie M van der Klauw
- , Jan Oosting
- , Carli M Tops
- , Ronald van Eijk
- , Hans FA Vasen
- , Rolf HAM Vossen
- , Maartje Nielsen
- , Sergi Castellví-Bel
- , Clara Ruiz-Ponte
- , Ian Tomlinson
- , Malcolm G Dunlop
- , Pavel Vodicka
- , Juul T Wijnen
- , Frederik J Hes
- , Hans Morreau
- , Noel FCC de Miranda
- , Rolf H Sijmons
- & Tom van Wezel
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Research | | Open
Recurrent Coding Sequence Variation Explains Only A Small Fraction of the Genetic Architecture of Colorectal Cancer
- Maria N. Timofeeva
- , Ben Kinnersley
- , Susan M. Farrington
- , Nicola Whiffin
- , Claire Palles
- , Victoria Svinti
- , Amy Lloyd
- , Maggie Gorman
- , Li-Yin Ooi
- , Fay Hosking
- , Ella Barclay
- , Lina Zgaga
- , Sara Dobbins
- , Lynn Martin
- , Evropi Theodoratou
- , Peter Broderick
- , Albert Tenesa
- , Claire Smillie
- , Graeme Grimes
- , Caroline Hayward
- , Archie Campbell
- , David Porteous
- , Ian J. Deary
- , Sarah E. Harris
- , Emma L. Northwood
- , Jennifer H. Barrett
- , Gillian Smith
- , Roland Wolf
- , David Forman
- , Hans Morreau
- , Dina Ruano
- , Carli Tops
- , Juul Wijnen
- , Melanie Schrumpf
- , Arnoud Boot
- , Hans F A Vasen
- , Frederik J. Hes
- , Tom van Wezel
- , Andre Franke
- , Wolgang Lieb
- , Clemens Schafmayer
- , Jochen Hampe
- , Stephan Buch
- , Peter Propping
- , Kari Hemminki
- , Asta Försti
- , Helga Westers
- , Robert Hofstra
- , Manuela Pinheiro
- , Carla Pinto
- , Manuel Teixeira
- , Clara Ruiz-Ponte
- , Ceres Fernández-Rozadilla
- , Angel Carracedo
- , Antoni Castells
- , Sergi Castellví-Bel
- , Harry Campbell
- , D. Timothy Bishop
- , Ian P M Tomlinson
- , Malcolm G. Dunlop
- & Richard S. Houlston
