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1. Retinitis pigmentosa (Non-syndromic)
by Tsang, Stephen H and Sharma, Tarun
Advances in Experimental Medicine and Biology, ISSN 0065-2598, 2018, Volume 1085, pp. 125 - 130
Most of the genes causing autosomal recessive retinitis pigmentosa (AR-RP) are rare and cause 1% of all cases. Some of the genes, like PDE6 (PDE6A, PDE6B,... 
Retinitis pigmentosa | Autosomal recessive | MEDICINE, RESEARCH & EXPERIMENTAL | OPHTHALMOLOGY | GENETICS & HEREDITY | CELL BIOLOGY
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2. Full Text Retinitis Pigmentosa: Genes and Disease Mechanisms
by Francesco Parmeggiani and Francesco S. Sorrentino and Diego Ponzin and Vanessa Barbaro and Stefano Ferrari and Enzo Di Iorio
Current Genomics, ISSN 1389-2029, 06/2011, Volume 12, Issue 4, pp. 238 - 249
Retinitis pigmentosa (RP) is a group of inherited disorders affecting 1 in 3000-7000 people and characterized by abnormalities of the photoreceptors (rods and... 
Syndromic retinitis pigmentosa | Mutations | Non-syndromic retinitis pigmentosa | X-linked | Retina | Recessive | Dominant | RETINAL DEGENERATION | VISUAL CYCLE | dominant | BIOCHEMISTRY & MOLECULAR BIOLOGY | non-syndromic retinitis pigmentosa | RPE65 | mutations | THERAPY | MESSENGER-RNA | retina | GENETICS & HEREDITY | BARDET-BIEDL-SYNDROME | RHODOPSIN | LEBERS CONGENITAL AMAUROSIS | recessive | retinal degeneration | Retinitis pigmentosa | X chromosome | Data processing | Bardet-Biedl syndrome | Rods | Hereditary diseases | Eye | Reviews | Cones | Photoreceptors | Mutation | retinal pigment epithelium
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3. Full Text SLC7A14 linked to autosomal recessive retinitis pigmentosa
by Jin, Zi-Bing and Jin, Zi-Bing and Huang, Xiu-Feng and Lv, Ji-Neng and Xiang, Lue and Li, Dong-Qing and Chen, Jiangfei and Huang, Changjiang and Wu, Jinyu and Lu, Fan and Qu, Jia
Nature communications, ISSN 2041-1723, 2014, Volume 5, Issue 1, pp. 3517 - 3517
Retinitis pigmentosa (RP) is characterized by degeneration of the retinal photoreceptors and is the leading cause of inherited blindness worldwide. Although... 
LEBER CONGENITAL AMAUROSIS | MUTATIONS | AUTOMATIC SEGMENTATION | OPTICAL COHERENCE TOMOGRAPHY | MULTIDISCIPLINARY SCIENCES | RESOLUTION | Retina - metabolism | Genes, Recessive - genetics | Humans | Amino Acid Transport System y+ - genetics | Male | Retina - embryology | Gene Knockdown Techniques | DNA Mutational Analysis | Gene Expression Regulation, Developmental | Base Sequence | Female | Larva - genetics | Amino Acid Sequence | Genetic Predisposition to Disease - genetics | Organic Cation Transport Proteins - metabolism | Zebrafish Proteins - metabolism | Larva - metabolism | Mice, Inbred C57BL | Retinitis Pigmentosa - genetics | Retinitis Pigmentosa - metabolism | Reverse Transcriptase Polymerase Chain Reaction | Zebrafish - genetics | Mice, Knockout | Sequence Homology, Amino Acid | Exome - genetics | Animals | Pedigree | Zebrafish - metabolism | Mice | Mutation | Zebrafish Proteins - genetics | Organic Cation Transport Proteins - genetics | Index Medicus
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4. Full Text Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa
by Arno, Gavin and Agrawal, Smriti A and Eblimit, Aiden and Bellingham, James and Xu, Mingchu and Wang, Feng and Chakarova, Christina and Parfitt, David A and Lane, Amelia and Burgoyne, Thomas and Hull, Sarah and Carss, Keren J and Fiorentino, Alessia and Hayes, Matthew J and Munro, Peter M and Nicols, Ralph and Pontikos, Nikolas and Holder, Graham E and Black, Graeme and Hall, Georgina and Ingram, Stuart and Gillespie, Rachel and Manson, Forbes and Sergouniotis, Panagiotis and Inglehearn, Chris and Toomes, Carmel and Ali, Manir and McKibbin, Martin and Poulter, James and Khan, Kamron and Lord, Emma and Nemeth, Andrea and Downes, Susan and Yu, Jing and Lise, Stefano and Ponitkos, Nikos and Plagnol, Vincent and Michaelides, Michel and Hardcastle, Alison J and Hardcastle, Alison J and Cheetham, Michael E and Cheetham, Michael E and Webster, Andrew R and Webster, Andrew R and van Heyningen, Veronica and Asomugha, Chinwe and Raymond, F. Lucy and Moore, Anthony T and Li, Yumei and Cukras, Catherine and Chen, Rui and UKIRDC
The American Journal of Human Genetics, ISSN 0002-9297, 12/2016, Volume 99, Issue 6, pp. 1305 - 1315
Retinitis pigmentosa (RP) is the most frequent form of inherited retinal dystrophy. RP is genetically heterogeneous and the genes identified to date encode... 
GENOMICS | HEREDITARY SPASTIC PARAPLEGIA | OPTIC CUPS | DISEASE | GENES | GENETICS & HEREDITY | ENDOPLASMIC-RETICULUM | MECHANISMS | MEMBRANE-PROTEINS | IDENTIFICATION | EXPRESSION | Proteins | Cell culture | Genes | Rodents | Homeostasis | Retina | Mutation | Genes, Recessive - genetics | Humans | Child, Preschool | Eye Proteins - chemistry | Retinitis Pigmentosa - genetics | Male | Photoreceptor Cells, Vertebrate - cytology | Mutation - genetics | Mutation, Missense - genetics | Young Adult | Phenotype | Animals | Eye Proteins - metabolism | Membrane Transport Proteins - genetics | Adolescent | Alleles | Female | Mice | Eye Proteins - genetics | Photoreceptor Cells, Vertebrate - metabolism | Induced Pluripotent Stem Cells - cytology | Child | Causes of | Genetic aspects | Gene mutations | Retinitis pigmentosa | Health aspects | Index Medicus
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5. Full Text CLRN1 Mutations Cause Nonsyndromic Retinitis Pigmentosa
by Khan, Muhammad Imran, MSc, MS|Kersten, Ferry F.J., BSc|Azam, Maleeha, PhD|Collin, Rob W.J., PhD|Hussain, Alamdar, MSc|Shah, Syed Tahir-A., MSc|Keunen, Jan E.E., MD, PhD|Kremer, Hannie, PhD|Cremers, Frans P.M., PhD|Qamar, Raheel, PhD|den Hollander, Anneke I., PhD
Ophthalmology, ISSN 0161-6420, 2011, Volume 118, Issue 7, pp. 1444 - 1448
Objective To describe the mutations in the CLRN1 gene in patients from 2 consanguineous Pakistani families diagnosed with autosomal recessive retinitis... 
Ophthalmology | FORMS | LEBER CONGENITAL AMAUROSIS | USH2A GENE | USHER-SYNDROME | SYNDROME TYPE-III | OPHTHALMOLOGY | CLARIN-1 | PHOTORECEPTORS | Electroretinography | Membrane Proteins - genetics | Humans | Night Blindness - etiology | Proline | Retinitis Pigmentosa - genetics | Tryptophan | Leucine | Genes, Recessive | Mutation, Missense - genetics | Retinitis Pigmentosa - diagnosis | DNA - genetics | Tissue Distribution | Young Adult | Retinitis Pigmentosa - complications | Microarray Analysis | Intracellular Space - metabolism | Adult | Audiometry, Pure-Tone | Consanguinity | Polymorphism, Single Nucleotide | Fundus Oculi | Retinitis Pigmentosa - physiopathology | Genetic Linkage | Neurosciences | Retinitis pigmentosa | Genetic aspects | Universities and colleges | Health aspects | Financial disclosure | Index Medicus
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6. Full Text Quantifying fundus autofluorescence in patients with retinitis pigmentosa
by Schuerch, Kaspar and Woods, Russell L and Lee, Winston and Duncker, Tobias and Delori, François C and Allikmets, Rando and Tsang, Stephen H and Sparrow, Janet R
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 03/2017, Volume 58, Issue 3, pp. 1843 - 1855
PURPOSE. Using quantitative fundus autofluorescence (qAF), we analyzed short-wavelength autofluorescent (SW-AF) rings in RP. METHODS. Short-wavelength... 
Optical coherence tomography | Scanning laser ophthalmoscope | Retinitis pigmentosa | Photoreceptor cells | Quantitative fundus autofluorescence | Retinal pigment epithelium | photoreceptor cells | optical coherence tomography | scanning laser ophthalmoscope | FOLLOW-UP | NORMAL VISUAL-ACUITY | quantitative fundus autofluorescence | RECESSIVE STARGARDT DISEASE | HYPERAUTOFLUORESCENT RING | SHORT-WAVELENGTH AUTOFLUORESCENCE | FUNCTIONAL-CHANGES | retinitis pigmentosa | OPHTHALMOLOGY | AUTOSOMAL-DOMINANT | retinal pigment epithelium | BISRETINOIDS | PROGRESSION | Reproducibility of Results | Prospective Studies | Follow-Up Studies | Fluorescein Angiography - methods | Humans | Middle Aged | Male | Tomography, Optical Coherence - methods | Retinitis Pigmentosa - diagnosis | Young Adult | Retinal Pigment Epithelium - pathology | Time Factors | Adolescent | Adult | Female | Ophthalmoscopy - methods | Child | Fundus Oculi | Index Medicus
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7. Full Text Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa
by Xu, Mingchu and Yamada, Takeyuki and Sun, Zixi and Eblimit, Aiden and Lopez, Irma and Wang, Feng and Manya, Hiroshi and Xu, Shan and Zhao, Li and Li, Yumei and Kimchi, Adva and Sharon, Dror and Sui, Ruifang and Endo, Tamao and Koenekoop, Robert K and Chen, Rui
Human Molecular Genetics, ISSN 0964-6906, 04/2016, Volume 25, Issue 8, pp. 1479 - 1488
A growing number of human diseases have been linked to defects in protein glycosylation that affects a wide range of organs. Among them, O-mannosylation is an... 
ALPHA-DYSTROGLYCAN | PROTEIN | GENOTYPE-PHENOTYPE CORRELATIONS | DEFECTIVE GLYCOSYLATION | MEVALONATE KINASE | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | WALKER-WARBURG-SYNDROME | HYPERIMMUNOGLOBULINEMIA-D | MUSCULAR-DYSTROPHIES | EYE-BRAIN DISEASE | O-MANNOSYL GLYCANS | Immunohistochemistry | Brain | Cell survival | Retinitis pigmentosa | Muscles | Retina | Glycosylation | Basal bodies | Eye | Enzymatic activity | Nerves | Photoreceptors | Mutation | Genetic Predisposition to Disease | Humans | Middle Aged | Cells, Cultured | N-Acetylglucosaminyltransferases - genetics | Retinitis Pigmentosa - genetics | Male | Genes, Recessive | N-Acetylglucosaminyltransferases - metabolism | Exome | Animals | Pedigree | Adult | Female | Aged | Mice | Photoreceptor Cells, Vertebrate - metabolism | Retinitis Pigmentosa - pathology | Sequence Analysis, DNA - methods | Index Medicus
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8. Full Text Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements
by Wang, Feng and Wang, Hui and Tuan, Han-Fang and Nguyen, Duy H and Sun, Vincent and Keser, Vafa and Bowne, Sara J and Sullivan, Lori S and Luo, Hongrong and Zhao, Ling and Wang, Xia and Zaneveld, Jacques E and Salvo, Jason S and Siddiqui, Sorath and Mao, Louise and Wheaton, Dianna K and Birch, David G and Branham, Kari E and Heckenlively, John R and Wen, Cindy and Flagg, Ken and Ferreyra, Henry and Pei, Jacqueline and Khan, Ayesha and Ren, Huanan and Wang, Keqing and Lopez, Irma and Qamar, Raheel and Zenteno, Juan C and Ayala-Ramirez, Raul and Buentello-Volante, Beatriz and Fu, Qing and Simpson, David A and Li, Yumei and Sui, Ruifang and Silvestri, Giuliana and Daiger, Stephen P and Koenekoop, Robert K and Zhang, Kang and Chen, Rui
Human Genetics, ISSN 0340-6717, 3/2014, Volume 133, Issue 3, pp. 331 - 345
Retinitis pigmentosa (RP) is a devastating form of retinal degeneration, with significant social and professional consequences. Molecular genetic information... 
Human Genetics | Gene Function | Molecular Medicine | Biomedicine | Metabolic Diseases | HEARING-LOSS | LEBER CONGENITAL AMAUROSIS | TRANSPORTER GENE | FAMILIES | DISEASE | GENETICS & HEREDITY | DOMINANT | BARDET-BIEDL SYNDROME | MUTATIONS | SPECTRUM | CORNEO-RETINAL DYSTROPHY | Molecular Chaperones | Reproducibility of Results | Genetic Testing | Genetic Association Studies | Exons | Humans | Computational Biology | Genotype | Genes, Recessive | Sequence Analysis, DNA | Phenotype | Retinitis Pigmentosa | Pedigree | Alleles | High-Throughput Nucleotide Sequencing | Polymorphism, Single Nucleotide | Membrane Glycoproteins | Mutation | CLN3 protein, human | retinal degeneration | Prognosis | Retinitis pigmentosa | Retina | Dystrophy | Genetic screening | Genotypes | Molecular Chaperones - metabolism | Membrane Glycoproteins - metabolism | Molecular Chaperones - genetics | Retinitis Pigmentosa - genetics | Membrane Glycoproteins - genetics | Retinitis Pigmentosa - diagnosis | Genetic aspects | Index Medicus
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9. Full Text Unravelling the genetic basis of simplex Retinitis Pigmentosa cases
by Bravo-Gil, Nereida and González-Del Pozo, María and Martín-Sánchez, Marta and Méndez-Vidal, Cristina and Rodríguez-De La Rúa, Enrique and Borrego, Salud and Antiñolo, Guillermo
Scientific Reports, ISSN 2045-2322, 02/2017, Volume 7, Issue 1, pp. 41937 - 41937
Retinitis Pigmentosa (RP) is the most common form of inherited retinal dystrophy (IRD) characterized ultimately by photoreceptors degeneration. Exhibiting... 
MUTATION ANALYSIS | SPANISH PATIENTS | LONG ISOFORM | LEBER CONGENITAL AMAUROSIS | CONE-ROD DYSTROPHY | AUTOSOMAL RECESSIVE RETINITIS | MULTIDISCIPLINARY SCIENCES | PHENOTYPIC VARIABILITY | SYNDROME TYPE-II | GENOTYPING MICROARRAY | RETINAL DYSTROPHIES | Genetic Predisposition to Disease | Genome-Wide Association Study | Pedigree | Humans | Retinitis Pigmentosa - genetics | Female | Male | Genetic Loci | Retinitis pigmentosa | Retinal degeneration | Retina | Photoreceptors | Retinitis | Heredity | Dystrophy | Index Medicus
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10. Full Text Missense Mutations in a Retinal Pigment Epithelium Protein, Bestrophin-1, Cause Retinitis Pigmentosa
by Davidson, Alice E and Millar, Ian D and Urquhart, Jill E and Burgess-Mullan, Rosemary and Shweikh, Yusrah and Parry, Neil and O'Sullivan, James and Maher, Geoffrey J and McKibbin, Martin and Downes, Susan M and Lotery, Andrew J and Jacobson, Samuel G and Brown, Peter D and Black, Graeme C.M and Manson, Forbes D.C
The American Journal of Human Genetics, ISSN 0002-9297, 11/2009, Volume 85, Issue 5, pp. 581 - 592
Bestrophin-1 is preferentially expressed at the basolateral membrane of the retinal pigmented epithelium (RPE) of the retina. Mutations in the BEST1 gene cause... 
CONDUCTANCE REGULATOR CFTR | CHANNEL FUNCTION | CHLORIDE CHANNELS | OPTICAL COHERENCE TOMOGRAPHY | BEST-DISEASE | GENETICS & HEREDITY | VITELLIFORM MACULAR DYSTROPHY | CYSTIC-FIBROSIS | AUTOSOMAL-DOMINANT VITREORETINOCHOROIDOPATHY | CL-CHANNELS | LIGHT PEAK | retinal degeneration | Missense mutation | Chloride | Channel gating | Retinitis pigmentosa | Retina | retinal pigment epithelium | Epithelium | Cytoplasm | Proteins | Models | Genetic disorders | Mutation | Gene expression | Exons | Humans | Molecular Sequence Data | Nuclear Family | Male | Chloride Channels - genetics | Mutation, Missense | Lod Score | Retinal Pigment Epithelium - pathology | Protein Isoforms - metabolism | Bestrophins | Genes, Dominant | Conserved Sequence | Female | Eye Proteins - genetics | Retinitis Pigmentosa - etiology | Genetic Linkage | Amino Acid Sequence | Cell Line | Retinitis Pigmentosa - genetics | Kidney - cytology | Genes, Recessive | Sequence Homology, Amino Acid | Homozygote | Pedigree | Chromosomes, Human, Pair 11 | Polymorphism, Single Nucleotide | Protein Isoforms - genetics | Retinal degeneration | Genetic aspects | Gene mutations | Analysis | Retinal pigment epithelium | Index Medicus
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11. Full Text Nonsense Mutations in FAM161A Cause RP28-Associated Recessive Retinitis Pigmentosa
by Langmann, Thomas and Di Gioia, Silvio Alessandro and Rau, Isabella and Stöhr, Heidi and Maksimovic, Nela S and Corbo, Joseph C and Renner, Agnes B and Zrenner, Eberhart and Kumaramanickavel, Govindasamy and Karlstetter, Marcus and Arsenijevic, Yvan and Weber, Bernhard H.F and Gal, Andreas and Rivolta, Carlo
The American Journal of Human Genetics, ISSN 0002-9297, 09/2010, Volume 87, Issue 3, pp. 376 - 381
Retinitis pigmentosa (RP) is a degenerative disease of the retina leading to progressive loss of vision and, in many instances, to legal blindness at the end... 
INDIAN FAMILY | GENE | IDENTIFICATION | LOCUS | GENETICS & HEREDITY | Chromatin | Retina | Eye diseases | Genetics | Mutation | Ribonucleic acid--RNA | Chromosomes | Transcription factors | Immunoprecipitation | Nonsense mutation | Neurons | Retinitis pigmentosa | Data processing | Phylogeny | Pedigree | chromosome 2 | Vision | DNA | Blindness | Photoreceptors | genomics | Gene mapping | Age | DNA sequencing | Amino Acid Sequence | Genes, Recessive - genetics | Retinal Degeneration - genetics | Humans | RNA, Messenger - genetics | Genetic Loci - genetics | Eye Proteins - chemistry | Molecular Sequence Data | Retinitis Pigmentosa - genetics | RNA, Messenger - metabolism | Animals | Eye Proteins - metabolism | DNA Mutational Analysis | Gene Expression Regulation, Developmental | Base Sequence | Mice | Eye Proteins - genetics | Retinal Degeneration - pathology | Binding Sites | Retina - pathology | Codon, Nonsense - genetics | Genes, Reporter | Messenger RNA | Nucleotide sequence | Gene mutations | Analysis | Physiological aspects | Genetic aspects | Genetic transcription | Research | Population genetics | Index Medicus
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12. Full Text A large animal model for CNGB1 autosomal recessive retinitis pigmentosa
by Winkler, Paige A and Winkler, Paige A and Ekenstedt, Kari J and Ekenstedt, Kari J and Occelli, Laurence M and Occelli, Laurence M and Frattaroli, Anton V and Frattaroli, Anton V and Bartoe, Joshua T and Bartoe, Joshua T and Venta, Patrick J and Venta, Patrick J and Petersen-Jones, Simon M and Petersen-Jones, Simon M
PloS one, ISSN 1932-6203, 2013, Volume 8, Issue 8, pp. e72229 - e72229
Retinal dystrophies in dogs are invaluable models of human disease. Progressive retinal atrophy (PRA) is the canine equivalent of retinitis pigmentosa (RP).... 
THERAPY RESTORES VISION | ACID-RICH PROTEIN | CHILDHOOD BLINDNESS | ROD PHOTORECEPTORS | PROGRESSIVE RETINAL ATROPHY | MULTIDISCIPLINARY SCIENCES | CATION CHANNEL | NUCLEOTIDE-GATED CHANNELS | LEBERS CONGENITAL AMAUROSIS | NONSENSE MUTATION | BETA-SUBUNIT GENE | Immunohistochemistry | Haplotypes | Glutamic acid | Alternative splicing | Veterinary colleges | Animal models | Transcription | Nonsense mutation | Retinitis pigmentosa | Insertion | Retina | Segments | Population studies | Single-nucleotide polymorphism | Rod outer segment membranes | Gene deletion | Homozygosity | Atrophy | Proteins | Clonal deletion | Deletion | Immunohistochemistry techniques | Mammalian genomics | Deoxyribonucleic acid--DNA | East Lansing Michigan | Splicing | United States--US | Stop codon | Michigan | Mouse models | DNA | N-Terminus | Dogs | Retinal degeneration | Photoreceptors | Retinitis | Mutation | Pets and companion animals | Rod Cell Outer Segment - metabolism | Exons | Humans | Molecular Sequence Data | RNA, Messenger - metabolism | INDEL Mutation | Base Sequence | Rod Cell Outer Segment - pathology | Female | Dogs - genetics | Cyclic Nucleotide-Gated Cation Channels - metabolism | Disease Models, Animal | Protein Structure, Tertiary | Gene Expression | RNA, Messenger - genetics | Cyclic Nucleotide-Gated Cation Channels - genetics | Retinitis Pigmentosa - genetics | Retinitis Pigmentosa - metabolism | Dogs - metabolism | Genes, Recessive | Sequence Homology, Amino Acid | Animals | Mice | Databases, Nucleic Acid | Retinitis Pigmentosa - pathology | Codon | Analysis | Single nucleotide polymorphisms | Research | Chromosomes | Index Medicus | Deoxyribonucleic acid
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13. Full Text Comprehensive molecular diagnosis of a large cohort of Japanese retinitis pigmentosa and usher syndrome patients by next-generation sequencing
by Oishi, Maho and Oishi, Akio and Gotoh, Norimoto and Ogino, Ken and Higasa, Koichiro and Iida, Kei and Makiyama, Yukiko and Morooka, Satoshi and Matsuda, Fumihiko and Yoshimura, Nagahisa
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 10/2014, Volume 55, Issue 11, pp. 7369 - 7375
PURPOSE. Retinitis pigmentosa (RP), a major cause of blindness in developed countries, has multiple causative genes; its prevalence differs by ethnicity. Usher... 
Retinitis pigmentosa | Usher syndrome | Next-generation sequencing | MICROARRAY | VARIANTS | next-generation sequencing | PHENOTYPE | targeted resequencing | KEARNS-SAYRE SYNDROME | RP1L1 | EYS GENE | FAMILIES | retinitis pigmentosa | OPHTHALMOLOGY | MUTATIONS | OCCULT MACULAR DYSTROPHY | Japan - epidemiology | Prevalence | Follow-Up Studies | Exons | Introns | Extracellular Matrix Proteins - genetics | Humans | Retinitis Pigmentosa - epidemiology | Retinitis Pigmentosa - genetics | Retinitis Pigmentosa - metabolism | Male | Genes, Recessive | Genetic Variation | Usher Syndromes - genetics | DNA Mutational Analysis | Pedigree | Usher Syndromes - epidemiology | Female | Retrospective Studies | Mutation | Usher Syndromes - metabolism | Extracellular Matrix Proteins - metabolism | Index Medicus
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14. Full Text Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma
by Pierrache, Laurence H.M., MD, MSc|Kimchi, Adva, MSc|Ratnapriya, Rinki, PhD|Roberts, Lisa, MSc|Astuti, Galuh D.N., MD|Obolensky, Alexey, MD, PhD|Beryozkin, Avigail, MSc|Tjon-Fo-Sang, Martha J.H., MD|Schuil, Jose, MD|Klaver, Caroline C.W., MD, PhD|Bongers, Ernie M.H.F., MD, PhD|Haer-Wigman, Lonneke, PhD|Schalij, Nicoline, MD, PhD|Breuning, Martijn H., MD, PhD|Fischer, Gratia M., MD|Banin, Eyal, MD, PhD|Ramesar, Raj S., PhD, MSc|Swaroop, Anand, PhD|van den Born, L. Ingeborgh, MD, PhD|Sharon, Dror, PhD|Cremers, Frans P.M., PhD
Ophthalmology, ISSN 0161-6420, 2017, Volume 124, Issue 7, pp. 992 - 1003
Purpose To identify the genetic cause of and describe the phenotype in 4 families with autosomal recessive retinitis pigmentosa (arRP) that can be associated... 
Ophthalmology | NMNAT1 MUTATIONS | LEBER CONGENITAL AMAUROSIS | GENE | MOLECULAR DIAGNOSIS | DISEASE | MISSENSE MUTATION | OPHTHALMOLOGY | RETINAL-DEGENERATION | PREVALENCE | ASSOCIATION | DYSTROPHIES | Humans | Coloboma - genetics | Child, Preschool | Male | Exome | Young Adult | DNA Mutational Analysis | Visual Fields | Adult | Female | Eye Proteins - genetics | Child | Macula Lutea - pathology | Electroretinography | Genetic Association Studies | Coloboma - diagnosis | Tomography, Optical Coherence | Retinitis Pigmentosa - genetics | Retinitis Pigmentosa - metabolism | Visual Acuity | Genes, Recessive | Retinitis Pigmentosa - diagnosis | DNA - genetics | Homozygote | Phenotype | Eye Proteins - metabolism | Pedigree | Adolescent | Coloboma - metabolism | Mutation | Medical research | Retinitis pigmentosa | Blindness | Medical genetics | Medicine, Experimental | Jewish schools | Epidemiology | Neurophysiology | Analysis | Index Medicus
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