Associated Papers
Molecular and clinical profile of patients referred as Noonan or Noonan-like syndrome in Greece: a cohort of 86 patients.
Papadopoulos G et al.
European Journal of Pediatrics, 2022
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
26112015 (PubMed )
Supplement: 13059_2015_693_MOESM3_ESM.xls › Sheet1
SPRED1, a RAS MAPK pathway inhibitor that causes Legius syndrome, is a tumour suppressor downregulated in paediatric acute myeloblastic leukaemia.
Pasmant E et al.
Oncogene, 2015
Identification of SPRED1 deletions using RT-PCR, multiplex ligation-dependent probe amplification and quantitative PCR.
Spencer E et al.
American Journal of Medical Genetics. Part A, 2011
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