Associated Papers
Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy.
Bodenbender JP et al.
International Journal of Molecular Sciences, 2023
36769033 (PubMed )
Supplement: ijms-24-02709-s001.zip › Supplementary_Table_S1.pdf
The genetics of rod-cone dystrophy in Arab countries: a systematic review.
Jaffal L et al.
European Journal of Human Genetics : Ejhg, 2021
A novel homozygous missense mutation p.P388S in TULP1 causes protein instability and retinitis pigmentosa.
Woodard DR et al.
Molecular Vision, 2021
TULP1 and TUB Are Required for Specific Localization of PRCD to Photoreceptor Outer Segments.
Remez L et al.
International Journal of Molecular Sciences, 2020
Distinct mutations with different inheritance mode caused similar retinal dystrophies in one family: a demonstration of the importance of genetic annotations in complicated pedigrees.
Chen X et al.
Journal of Translational Medicine, 2018
Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases.
Ullah I et al.
Molecular Vision, 2016
Homozygosity mapping in autosomal recessive retinitis pigmentosa families detects novel mutations.
Bocquet B et al.
Molecular Vision, 2013
Identification of recurrent and novel mutations in TULP1 in Pakistani families with early-onset retinitis pigmentosa.
Ajmal M et al.
Molecular Vision, 2012
Combining gene mapping and phenotype assessment for fast mutation finding in non-consanguineous autosomal recessive retinitis pigmentosa families.
Hebrard M et al.
European Journal of Human Genetics : Ejhg, 2011
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