K. Nikopoulos

Discipline

Psychologie (1) Economies et finances (1) Anthropologie biologique (1)

Type de document

Articles (9)

Co-auteur

Date

Source

Mot-clé

gène (8) Retinal (Visual pigment) (8) maladie (6) Patients (6) Families (6) Patients (6) maladie (6) Retinitis pigmentosa (5) mutation (4) analyse (4) Genes (4) Dystrophy (4) Blindness (4) Analysis (4) Mutation (4) cartographie (cartes) (3) famille (3) ADN (3) abords (agglomération) (3) Identification (3) Phenotype (3) Retinal degeneration (3) Retina (3) Identification (3) DNA (3) Addition (3) Disabilities (3) Identification (3) Family (3) roman (3)

Documents écrit par K. Nikopoulos (9) | parle de K. Nikopoulos (0)

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
D.M. Panneman et al. (2023)
A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy.
K. Nikopoulos et al. (28 juin 2019)
Macular Dystrophy and Cone-Rod Dystrophy Caused by Mutations in the RP1 Gene: Extending the RP1 Disease Spectrum.
S.K. Verbakel et al. (2019)
Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility.
N. Bedoni et al. (15 oct. 2016)
Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects.
K. Nikopoulos et al. (1 sept. 2016)
Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination.
F. Coppieters et al. (4 août 2016)
Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies.
M.A. Saqib et al. (2015)
Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy.
K. Nikopoulos et al. (2015)
Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis.
M. Corton et al. (2013)