Results 201 to 210 of about 306,770 (339)

Analysis of corneal wavefront aberrations and corneal densitometry in eyes with epithelial basement membrane dystrophy. [PDF]

Int Ophthalmol
Kaiser KP, Wend J, Böhm M, Kohnen T, Schmack I.   +4 more
europepmc   +1 more source

Stromal Curvature, Power and Corneal‐Stromal Curvature Ratios From a Hybrid AS‐OCT in Eyes With Keratoconus

Clinical &Experimental Ophthalmology, EarlyView.
ABSTRACT Background To characterise stromal curvature and curvature ratios in keratoconus (KCN) using anterior segment OCT, and to evaluate the implications of using single‐, two‐, and three‐surface refractive models for corneal power estimation in ectatic eyes. Methods Retrospective observational study.
Jascha A. Wendelstein, Annabella Ostermaier, Katrin Freller, Arianna Grendele, Giacomo Savini, Catarina Praefke Coutinho, Robert Herber, Nikolaus Luft, Stefan Kassumeh, Achim Langenbucher, Siegfried Priglinger   +10 more
wiley   +1 more source

Neonatal congenital myotonic dystrophy with DMPK gene expansion: clinical features and short-term outcomes. [PDF]

Front Pediatr
Zhao Q, Wang S, Wang Y, Ding S.
europepmc   +1 more source

Sympathetic dystrophy [PDF]

Annals of Emergency Medicine, 2001
openaire   +2 more sources

Retinal Pigment Epitheliopathy due to Sub‐Optimal Recycling of Vitamin A (RESORVA): A Novel RDH11‐Related Phenotype

Clinical Genetics, EarlyView.
RDH11 is a minor isoenzyme that catalyses the oxidation of 11‐cis‐retinol to 11‐cis‐retinal in the retinal pigment epithelium, alongside RDH5 and RDH10. Biallelic null variants in RDH11 lead to upregulation of RDH5 and RDH10 (transcriptional adaptation), maintaining 11‐cis‐retinal bioavailability, but still causing Retinal Pigment Epitheliopathy due to
Kirk A. J. Stephenson, Zhuo Shao, Anupreet Tumber, Erika Tavares, Kashif Ahmed, Edward J. Higginbotham, Christian R. Marshall, Jason T. Maynes, Ammaji Rajala, Raju V. S. Rajala, Elise Héon, Ajoy Vincent   +11 more
wiley   +1 more source

Limb‐girdle muscular dystrophy type 2D gene therapy restores α‐sarcoglycan and associated proteins

, 2009
Jerry R. Mendell, Louise R. Rodino‐Klapac, Xiomara Rosales-Quintero, Janaiah Kota, Brian D. Coley, Gloria Galloway, Josepha Craenen, Sarah Lewis, Vinod Malik, Christopher Shilling, Barry J. Byrne, Thomas J. Conlon, Katherine J. Campbell, William G. Bremer, Laurence Viollet, Christopher M. Walker, Zarife Sahenk, K. Reed Clark   +17 more
openalex   +2 more sources

Myotonic Dystrophy [PDF]

Proceedings of the Royal Society of Medicine, 1955
openaire   +2 more sources

PTRF Confers Melanoma‐Acquired Drug Resistance Through the Upregulation of EGFR

Cell Proliferation, EarlyView.
The upregulation of PTRF, a critical caveolar component, and the concomitant increase in caveolae number potentiate cellular proliferation and survival pathways, thereby contributing to melanoma drug resistance. ABSTRACT Melanoma is the most serious type of skin cancer. About half of all melanomas have activating BRAF mutations.
Miao Wang, Ying Cao, Chengcheng Ren, Ke Wang, Yaxiang Wang, Xiaoying Wu, Jian Mao, Qian Liang, Qian Zhang, Hezhe Lu, Xiaowei Xu, Yu‐Sheng Cong   +11 more
wiley   +1 more source

Nasal Retinal Degeneration Is a Feature of a Subset of <i>CRX</i>-Associated Retinopathies. [PDF]

Genes (Basel)
Massengill MT, Juvier Riesgo T, Davis JL, Mendoza-Santiesteban CE, Goldhagen BE, Lam BL, Gregori NZ.   +6 more
europepmc   +1 more source

Functional muscle impairment in facioscapulohumeral muscular dystrophy is correlated with oxidative stress and mitochondrial dysfunction

, 2012
Ahmed Turki, Maurice Hayot, Gilles Carnac, Fabien Pillard, Emilie Passerieux, Sébastien Bommart, Eric Raynaud de Mauverger, Gérald Hugon, Joël Pincemaïl, Sylvia Pietri, Karen Lambert, Alexandra Belayew, Yegor Vassetzky, Raúl Juntas Morales, Jacques Mercier, Dalila Laoudj‐Chenivesse   +15 more
openalex   +2 more sources