445 results on '"Hamel, Christian P"'
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102. Exploring Molecular Mechanisms That Underlie Cellular Response to Laser Stimulation in Retinal Ganglion Cells
103. Neuroradiological findings expand the phenotype of OPA1-related mitochondrial dysfunction
104. Frequency and Clinical Pattern of Vitelliform Macular Dystrophy Caused by Mutations of Interphotoreceptor Matrix IMPG1 and IMPG2 Genes
105. Novel splice-site mutation in TTLL5 causes cone dystrophy in a consanguineous family.
106. Different Mutations in RPE65 Are Associated with Variability in the Severity of Retinal Dystrophy
107. A Truncated Form of Rod Photoreceptor PDE6 β-Subunit Causes Autosomal Dominant Congenital Stationary Night Blindness by Interfering with the Inhibitory Activity of the γ-Subunit
108. A missense mutation in the splicing factor geneDHX38is associated with early-onset retinitis pigmentosa with macular coloboma
109. Gene discovery and prevalence in inherited retinal dystrophies
110. Proof of concept for AAV2/5-mediated gene therapy in iPSC-derived retinal pigment epithelium of a choroideremia patient
111. Gene structure and chromosomal localization of mouse Opa1 : its exclusion from the Bst locus
112. Impairment of visual function and retinal ER stress activation in Wfs1-deficient mice
113. Mutations in IMPG1 Cause Vitelliform Macular Dystrophies
114. Relative Frequencies of Inherited Retinal Dystrophies and Optic Neuropathies in Southern France: Assessment of 21-year Data Management
115. Les dystrophies rétiniennes héréditaires : apports de la génétique moléculaire
116. Whole-Exome Sequencing Identifies LRIT3 Mutations as a Cause of Autosomal-Recessive Complete Congenital Stationary Night Blindness
117. Fatp1 Deficiency Affects Retinal Light Response and Dark Adaptation, and Induces Age-Related Alterations
118. Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness
119. Cataract as a Phenotypic Marker for a Mutation in WFS1, the Wolfram Syndrome Gene
120. Homozygous Mutation in MERTK Causes Severe Autosomal Recessive Retinitis Pigmentosa
121. Systematic Screening of BEST1 and PRPH2 in Juvenile and Adult Vitelliform Macular Dystrophies: A Rationale for Molecular Analysis
122. A novel locus (CORD12) for autosomal dominant cone-rod dystrophy on chromosome 2q24.2-2q33.1
123. Clinical utility gene card for: achromatopsia
124. Clinical utility gene card for: blue cone monochromatism
125. Bardet-Biedl Syndrome
126. Screening for a Canine Model of Choroideremia Exclusively Identifies Nonpathogenic CHM Variants
127. Screening genes of the visual cycleRGR,RBP1andRBP3identifies rare sequence variations
128. Simple and Efficient: Validation of a Cotton Wick Electrode for Animal Electroretinography
129. OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution
130. Spectrum of Rhodopsin Mutations in French Autosomal Dominant Rod–Cone Dystrophy Patients
131. FATP1 Inhibits 11-cis Retinol Formation via Interaction with the Visual Cycle Retinoid Isomerase RPE65 and Lecithin:Retinol Acyltransferase*
132. High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome
133. Genotyping Microarray for CSNB-Associated Genes
134. TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness
135. Reply
136. Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novelOPA1mutations
137. Mutations in TOPORS Cause Autosomal Dominant Retinitis Pigmentosa with Perivascular Retinal Pigment Epithelium Atrophy
138. RRH, Encoding the RPE-Expressed Opsin-Like Peropsin, Is Not Mutated in Retinitis Pigmentosa and Allied Diseases
139. Homozygous Deletion Related to Alu Repeats inRLBP1Causes Retinitis Punctata Albescens
140. Expression of the Opa1 Mitochondrial Protein in Retinal Ganglion Cells: Its Downregulation Causes Aggregation of the Mitochondrial Network
141. Novel Mutations inMYO7AandUSH2Ain Usher Syndrome
142. Deafness and Cochlear Fibrocyte Alterations in Mice Deficient for the Inner Ear Protein Otospiralin
143. Lack of fundus autofluorescence to 488 nanometers from childhood on in patients with early-onset severe retinal dystrophy associated with mutations in RPE65
144. A novel CACNA1F mutation in a french family with the incomplete type of X-linked congenital stationary night blindness
145. The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies
146. Identification of Preferentially Expressed mRNAs in Retina and Cochlea
147. The human dynamin‐related protein OPA1 is anchored to the mitochondrial inner membrane facing the inter‐membrane space
148. Downregulation of Otospiralin, a Novel Inner Ear Protein, Causes Hair Cell Degeneration and Deafness
149. OPA1 (Kjer Type) Dominant Optic Atrophy: A Novel Mitochondrial Disease
150. What similarity between human and fission yeast proteins is required for orthology?
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