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Research | 29 March 2018 | Open
KIF11 microdeletion is associated with microcephaly, chorioretinopathy and intellectual disability
Human Genome Variation 5 , 1–3

Rights & permissionsfor article KIF11 microdeletion is associated with microcephaly, chorioretinopathy and intellectual disability . Opens in a new window.
Research | 22 April 2015
Collybistin binds and inhibits mTORC1 signaling: a potential novel mechanism contributing to intellectual disability and autism
European Journal of Human Genetics 24 , 59–65

Rights & permissionsfor article Collybistin binds and inhibits mTORC1 signaling: a potential novel mechanism contributing to intellectual disability and autism . Opens in a new window.
18 September 2014
Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity
- Nina De Rocker
- , Sarah Vergult
- , David Koolen
- , Eva Jacobs
- , Alexander Hoischen
- , Susan Zeesman
- , Birgitte Bang
- , Frédérique Béna
- , Nele Bockaert
- , Ernie M. Bongers
- , Thomy de Ravel
- , Koenraad Devriendt
- , Sabrina Giglio
- , Laurence Faivre
- , Shelagh Joss
- , Saskia Maas
- , Nathalie Marle
- , Francesca Novara
- , Malgorzata J.M. Nowaczyk
- , Hilde Peeters
- , Abeltje Polstra
- , Filip Roelens
- , Carla Rosenberg
- , Julien Thevenon
- , Zeynep Tümer
- , Suzanne Vanhauwaert
- , Konstantinos Varvagiannis
- , Andy Willaert
- , Marjolein Willemsen
- , Marjolaine Willems
- , Orsetta Zuffardi
- , Paul Coucke
- , Frank Speleman
- , Evan E. Eichler
- , Tjitske Kleefstra
- & Björn Menten
Genetics in Medicine 17 , 460–466

Rights & permissionsfor article Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity . Opens in a new window.
Research | 29 October 2015 | Open
A novel KCNQ4 mutation and a private IMMP2L-DOCK4 duplication segregating with nonsyndromic hearing loss in a Brazilian family
Human Genome Variation 2 , 1–6

Rights & permissionsfor article A novel KCNQ4 mutation and a private IMMP2L-DOCK4 duplication segregating with nonsyndromic hearing loss in a Brazilian family . Opens in a new window.
19 June 2013
Does germ-line deletion of the PIP gene constitute a widespread risk for cancer?
- Amanda G Silva
- , Ana CV Krepischi
- , Giovana T Torrezan
- , Leonardo P Capelli
- , Dirce M Carraro
- , Carla S D'Angelo
- , Celia P Koiffmann
- , Mayana Zatz
- , Michel S Naslavsky
- , Cibele Masotti
- , Paulo A Otto
- , Maria IW Achatz
- , Ryan E Mills
- , Charles Lee
- , Peter L Pearson
- & Carla Rosenberg
European Journal of Human Genetics 22 , 307–309

Rights & permissionsfor article Does germ-line deletion of the PIP gene constitute a widespread risk for cancer? . Opens in a new window.
Research | 7 March 2007
Ring chromosome formation as a novel escape mechanism in patients with inverted duplication and terminal deletion
European Journal of Human Genetics 15 , 548–555

Rights & permissionsfor article Ring chromosome formation as a novel escape mechanism in patients with inverted duplication and terminal deletion . Opens in a new window.
Comments and Opinion | 22 July 2004
Claes Lundsteen—in Memoriam
- Jim Graham
- , Elisabeth Blennow
- , M Guida Boavida
- , Nigel Carter
- , Christoph Cremer
- , Thomas Cremer
- , Olivier Delattre
- , Tommy Gerdes
- , Erik Granum
- , Anne Hagemeijer
- , Jesus Maria Hernandez Rivas
- , Olli Kallioniemi
- , Maria Kirchhoff
- , Steen Kølvraa
- , Peter Lichter
- , Peter Pearson
- , John Philip
- , Jim Piper
- , Mels van der Ploeg
- , Anton K Raap
- , Mariano Rocchi
- , Carla Rosenberg
- , Michael Speicher
- , Frank Speleman
- , Niels Tommerup
- , Nadine van Roy
- , Joris Veltman
- & Ted Young
European Journal of Human Genetics 12 , 603–603

Rights & permissionsfor article Claes Lundsteen—in Memoriam . Opens in a new window.
Research | 13 August 2006
Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability
- Charles Shaw-Smith
- , Alan M Pittman
- , Lionel Willatt
- , Howard Martin
- , Lisa Rickman
- , Susan Gribble
- , Rebecca Curley
- , Sally Cumming
- , Carolyn Dunn
- , Dimitrios Kalaitzopoulos
- , Keith Porter
- , Elena Prigmore
- , Ana C V Krepischi-Santos
- , Monica C Varela
- , Celia P Koiffmann
- , Andrew J Lees
- , Carla Rosenberg
- , Helen V Firth
- , Rohan de Silva
- & Nigel P Carter
Nature Genetics 38 , 1032–1037

Rights & permissionsfor article Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability . Opens in a new window.
1 September 2007
Structural variation in the human genome: the impact of copy number variants on clinical diagnosis
Genetics in Medicine 9 , 600–606

Rights & permissionsfor article Structural variation in the human genome: the impact of copy number variants on clinical diagnosis . Opens in a new window.
Research | 11 April 2001
A Rett syndrome patient with a ring X chromosome: further evidence for skewing of X inactivation and heterogeneity in the aetiology of the disease
- Carla Rosenberg
- , CokkieH Wouters
- , Karoly Szuhai
- , Rien Dorland
- , Peter Pearson
- , Bwee Tien Poll-The
- , RMax Colombijn
- , Martijn Breuning
- & Dick Lindhout
European Journal of Human Genetics 9 , 171–177

Rights & permissionsfor article A Rett syndrome patient with a ring X chromosome: further evidence for skewing of X inactivation and heterogeneity in the aetiology of the disease . Opens in a new window.
Research | 1 July 2000
Comparative Genomic and In Situ Hybridization of Germ Cell Tumors of the Infantile Testis
Laboratory Investigation 80 , 1055–1064

Rights & permissionsfor article Comparative Genomic and In Situ Hybridization of Germ Cell Tumors of the Infantile Testis . Opens in a new window.
Research | 30 January 2013
Molecular and clinical delineation of the 17q22 microdeletion phenotype
European Journal of Human Genetics 21 , 1085–1092

Rights & permissionsfor article Molecular and clinical delineation of the 17q22 microdeletion phenotype . Opens in a new window.
Research | 1 August 1995
High resolution DNA Fiber–fish on yeast artificial chromosomes: direct visualization of DNA replication
Nature Genetics 10 , 477–479

Rights & permissionsfor article High resolution DNA Fiber–fish on yeast artificial chromosomes: direct visualization of DNA replication . Opens in a new window.
Research | 22 March 2001
Mutations in the APC tumour suppressor gene cause chromosomal instability
- Riccardo Fodde
- , Jeroen Kuipers
- , Carla Rosenberg
- , Ron Smits
- , Menno Kielman
- , Claudia Gaspar
- , Johan H. van Es
- , Cor Breukel
- , Joop Wiegant
- , Rachel H. Giles
- & Hans Clevers
Nature Cell Biology 3 , 433–438

Rights & permissionsfor article Mutations in the APC tumour suppressor gene cause chromosomal instability . Opens in a new window.
Research | 19 October 2004
Primary synovial sarcoma of the heart: a cytogenetic and molecular genetic analysis combining RT-PCR and COBRA-FISH of a case with a complex karyotype
Modern Pathology 17 , 1434–1439

Rights & permissionsfor article Primary synovial sarcoma of the heart: a cytogenetic and molecular genetic analysis combining RT-PCR and COBRA-FISH of a case with a complex karyotype . Opens in a new window.
Research | 10 December 2018
Mechanistic insights revealed by a UBE2A mutation linked to intellectual disability
Nature Chemical Biology 15 , 62–70

Rights & permissionsfor article Mechanistic insights revealed by a UBE2A mutation linked to intellectual disability . Opens in a new window.
Research | 1 June 2000
Identification of Genetic Markers for Prostatic Cancer Progression
- Janneke C Alers
- , Jenneke Rochat
- , Pieter-Jaap Krijtenburg
- , Wim C J Hop
- , Ries Kranse
- , Carla Rosenberg
- , Hans J Tanke
- , Fritz H Schröder
- & Herman van Dekken
Laboratory Investigation 80 , 931–942

Rights & permissionsfor article Identification of Genetic Markers for Prostatic Cancer Progression . Opens in a new window.
2 June 1998
Identification of the critical region of 12p over-representation in testicular germ cell tumors of adolescents and adults
Oncogene 16 , 2617–2627

Rights & permissionsfor article Identification of the critical region of 12p over-representation in testicular germ cell tumors of adolescents and adults . Opens in a new window.

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KIF11 microdeletion is associated with microcephaly, chorioretinopathy and intellectual disability

Collybistin binds and inhibits mTORC1 signaling: a potential novel mechanism contributing to intellectual disability and autism

Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity

A novel KCNQ4 mutation and a private IMMP2L-DOCK4 duplication segregating with nonsyndromic hearing loss in a Brazilian family

Does germ-line deletion of the PIP gene constitute a widespread risk for cancer?

Ring chromosome formation as a novel escape mechanism in patients with inverted duplication and terminal deletion

Claes Lundsteen—in Memoriam

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

Structural variation in the human genome: the impact of copy number variants on clinical diagnosis

A Rett syndrome patient with a ring X chromosome: further evidence for skewing of X inactivation and heterogeneity in the aetiology of the disease

Comparative Genomic and In Situ Hybridization of Germ Cell Tumors of the Infantile Testis

Molecular and clinical delineation of the 17q22 microdeletion phenotype

High resolution DNA Fiber–fish on yeast artificial chromosomes: direct visualization of DNA replication

Mutations in the APC tumour suppressor gene cause chromosomal instability

Primary synovial sarcoma of the heart: a cytogenetic and molecular genetic analysis combining RT-PCR and COBRA-FISH of a case with a complex karyotype

Mechanistic insights revealed by a UBE2A mutation linked to intellectual disability

Identification of Genetic Markers for Prostatic Cancer Progression

Identification of the critical region of 12p over-representation in testicular germ cell tumors of adolescents and adults

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