Suchergebnisse - "TULP1"

PubPharm (88)

1

Phenotyping and genotyping inherited retinal diseases : Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromes

enthalten in: Progress in retinal and eye research | 2024

von Georgiou, M. | Robson, A. | Fujinami, K. | +8

2

Deciphering complexity : TULP1 variants linked to an atypical retinal dystrophy phenotype

enthalten in: Frontiers in genetics | 2024

von Esteve-Garcia, A. | Cobos, E. | Sau, C. | +6

3

Unravelling the genetic basis of retinal dystrophies in Pakistani consanguineous families

enthalten in: BMC ophthalmology | 2023

von Marwan, M. | Dawood, M. | Ullah, M. | +8

4

Natural history and biomarkers of retinal dystrophy caused by the biallelic TULP1 variant c.148delG

enthalten in: Acta ophthalmologica | 2023

von Majander, A. | Sankila, E. | Falck, A. | +6

5

Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy

enthalten in: International journal of molecular sciences | 2023

von Bodenbender, J. | Marino, V. | Bethge, L. | +7

6

Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy

in: International Journal of Molecular Sciences | 2023

von Jan-Philipp Bodenbender | Valerio Marino | Leon Bethge | +7

7

Tulp1 deficiency causes early-onset retinal degeneration through affecting ciliogenesis and activating ferroptosis in zebrafish

enthalten in: Cell death & disease | 2022

von Jia, D. | Gao, P. | Lv, Y. | +14

8

TULP1 related retinal dystrophy : report of rare and novel variants with a previously undescribed phenotype in two cases

enthalten in: Ophthalmic genetics | 2022

von Al-Hindi, H. | Chauhan, M. | Sanders, R. | +4

9

Anti-Programmed Death Ligand-1 Induced Acute Vision Loss in a Patient With Cancer-Associated Retinopathy

enthalten in: Cureus | 2022

von Chauhan, M. | Mansour, H. | Zafar, M. | +1

10

Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies

enthalten in: Scientific reports | 2021

von Rehman, A. | Sepahi, N. | Bedoni, N. | +13

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