Characterisation of retinoblastomas without RB1 mutations: genomic, gene expression, and clinical studies

Diane Rushlow, Berber M. Mol, Jennifer Y. Kennett, +22

The Lancet Oncology

<i>SMAD4</i> mutations found in unselected HHT patients

Carol J. Gallione, Jjais Richards, Tom G.W. Letteboer, +9

Journal of Medical Genetics

Detection of mosaic<i>RB1</i>mutations in families with retinoblastoma

Diane Rushlow, Beata Piovesan, Katherine Zhang, +4

Human Mutation

Hematological MalignancyRb1 MutationOncologySomatic VariantGenetic Disorder +13

Patterns of missplicing caused by<i>RB1</i>gene mutations in patients with retinoblastoma and association with phenotypic expression

Katherine Zhang, Inga Nowak, Diane Rushlow, +2

Human Mutation

Novel mutations and polymorphisms in genes causing hereditary hemorrhagic telangiectasia

S A Abdalla, Urszula Cymerman, Diane Rushlow, +4

Human Mutation

High performance DNA sequencing, and the detection of mutations and polymorphisms, on the Clipper sequencer

Thomas D. Yager, Laurent Baron, Ruby Batra, +16

Electrophoresis

GeneticsDna AnalysisMolecular BiologyNucleic Acid Amplification TestMolecular Genetics +22

Human retinoblastoma is not caused by known pRb‐inactivating human DNA tumor viruses

Maura L. Gillison, Renwei Chen, Eleni Goshu, +5

International Journal of Cancer

Tumor BiologyBiallelic InactivationOncogenic AgentHuman RetinoblastomaPathology +11

Using RB1 mutations to assess minimal residual disease in metastatic retinoblastoma

Helen Dimaras, Diane Rushlow, William Halliday, +7

Translational research

MedicineMelanomaRb1 MutationsPathologyCancer Genomics +8

Identification of clinically relevant mosaicism in type I hereditary haemorrhagic telangiectasia

N. P. Lee, Donco Matevski, D. Dumitru, +3

Journal of Medical Genetics

Needle core biopsies provide ample material for genomic and proteomic studies of kidney cancer: Observations on DNA, RNA, protein extractions and VHL mutation detection

Ghada Kurban, Brenda L. Gallie, Michael Leveridge, +6

Pathology - Research and Practice

UrologyMedicinePathologyVhl Mutation DetectionCancer Genomics +7