Associated Papers
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Karali M et al.
Scientific Reports, 2022
36460718 (PubMed )
Supplement: 41598_2022_24636_MOESM2_ESM.xlsx › Supplementary_Table_S1
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_9
MERTK mutation update in inherited retinal diseases.
Audo I et al.
Human Mutation, 2018
A Comprehensive Review of Mutations in the MERTK Proto-Oncogene.
Parinot C et al.
Advances in Experimental Medicine and Biology, 2016
A novel start codon mutation of the MERTK gene in a patient with retinitis pigmentosa.
Jinda W et al.
Molecular Vision, 2016
Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa.
Wang J et al.
Investigative Ophthalmology & Visual Science, 2014
Nonsense mutation in MERTK causes autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family.
Shahzadi A et al.
The British Journal of Ophthalmology, 2010
Novel mutations in MERTK associated with childhood onset rod-cone dystrophy.
Mackay DS et al.
Molecular Vision, 2010
Novel splice donor site mutation in MERTK gene associated with retinitis pigmentosa.
Brea-Fernández AJ et al.
The British Journal of Ophthalmology, 2008
MERTK polymorphisms associated with risk of haematological disorders among Korean SLE patients.
Cheong HS et al.
Rheumatology (oxford, England), 2007
Clinical characterisation of a family with retinal dystrophy caused by mutation in the Mertk gene.
Tschernutter M et al.
The British Journal of Ophthalmology, 2006
MERTK arginine-844-cysteine in a patient with severe rod-cone dystrophy: loss of mutant protein function in transfected cells.
McHenry CL et al.
Investigative Ophthalmology & Visual Science, 2004
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