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ORPHANET JOURNAL OF RARE DISEASES, ISSN 1750-1172, 08/2019, Volume 14, Issue 1, pp. 187 - 187
BackgroundTo evaluate and compare the progression of ciliopathy and non-ciliopathy autosomal recessive Retinitis Pigmentosa patients (arRP) by measuring the... 
MEDICINE, RESEARCH & EXPERIMENTAL | Retinitis pigmentosa | FUNDUS AUTOFLUORESCENCE | Disease progression | AXONEMES | CILIA | RPGR | Ciliopathy | HYPERAUTOFLUORESCENT RING | Autosomal recessive | GENE | DISEASE | GENETICS & HEREDITY | Development and progression | Comparative analysis | Structure | Cilia and ciliary motion | Index Medicus
Journal Article
Clinical Genetics, ISSN 0009-9163, 10/2019, Volume 96, Issue 4, pp. 354 - 358
TTI2 (MIM 614126) has been described as responsible for autosomal recessive intellectual disability (ID; MRT39, MIM: 615541 ) in only two inbred families.... 
premature ovarian failure | triple T complex | TTI2 | recessive intellectual disability | TOR protein | Cell proliferation | Hsp90 protein | Phenotypes | Microencephaly | Scoliosis | Intellectual disabilities | Ataxia | Inbreeding | Genomes | Rapamycin | Kinases
Journal Article
08/2019
Book Review
Gene, ISSN 0378-1119, 08/2019, Volume 709, pp. 65 - 74
Journal Article
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, ISSN 0146-0404, 07/2019, Volume 60, Issue 8, pp. 2875 - 2887
PURPOSE. We previously found a dominant mutation, Rwhs, causing white spots on the retina accompanied by retinal folds. Here we identify the mutant gene to be... 
mouse models | genetic diseases | CRB1 | BESTROPHIN | FRIZZLED-RELATED PROTEIN | DEGENERATION | POSTERIOR MICROPHTHALMOS | MFRP | retina | CRUMBS HOMOLOG-1 | OPHTHALMOLOGY | GENOME-WIDE | RECESSIVE SYNDROME | RETINITIS-PIGMENTOSA | nanophthalmos
Journal Article
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, ISSN 0146-0404, 07/2019, Volume 60, Issue 8, pp. 2822 - 2835
PURPOSE. To compare phenotype variability in retinitis pigmentosa patients with recessive and dominant mutations in the SNRNP200 gene. METHODS. In a... 
genotype phenotype correlation | MISSENSE SUBSTITUTIONS | ISCEV STANDARD | MOLECULAR DIAGNOSIS | DYSTROPHY | FAMILIES | GENES | retinitis pigmentosa | OPHTHALMOLOGY | MUTATIONS | SNRNP200 | autosomal dominant | PROBANDS | autosomal recessive
Journal Article
GENES, ISSN 2073-4425, 06/2019, Volume 10, Issue 6, p. 453
Photoreceptor physiology and pathophysiology is intricately linked to guanosine-3',5'-cyclic monophosphate (cGMP)-signaling. Here, we discuss the importance of... 
CALCIUM-CHANNEL BLOCKER | RETINAL DEGENERATION | drug delivery systems | translational medicine | CANCER CELLS | PROTEIN-KINASE-G | cyclic GMP | RECESSIVE RETINITIS-PIGMENTOSA | apoptosis | D-CIS-DILTIAZEM | CELL-DEATH | CYCLIC-GMP | retina | necrosis | GENETICS & HEREDITY | NITRIC-OXIDE | GENE-THERAPY
Journal Article
Ophthalmic Genetics, ISSN 1381-6810, 05/2019, Volume 40, Issue 3, pp. 259 - 266
Purpose: Cone-rod dystrophy (CRD) is an inherited retinal dystrophy that is transmitted via different modes of inheritance. Mutations in more than 30 genes... 
incomplete penetrance | autosomal recessive inheritance pattern | Cone-rod dystrophy | CRX gene | GENETICS & HEREDITY | OPHTHALMOLOGY | MUTATIONS | HOMEOBOX GENE | ABCA4 GENE
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 06/2019, Volume 29, Issue 6, pp. 448 - 455
Recessive mutations in the gene, encoding for a mitochondrial distribution and morphology regulator, have been recently described in a very limited number of... 
Cerebellar atrophy | Ataxia | MSTO1 | Muscular dystrophy | Progressive cerebellar involvement | PROTEIN | MITOCHONDRIAL | RECESSIVE MUTATIONS | MYOPATHY | NEUROSCIENCES | CLINICAL NEUROLOGY
Journal Article
Ophthalmic Genetics, ISSN 1381-6810, 05/2019, Volume 40, Issue 3, pp. 288 - 292
Background: To characterize the phenotype and genotype of a rare syndrome associating posterior microphthalmos (PM), retinitis pigmentosa (RP), and... 
foveoschisis | optic nerve drusen | retinitis pigmentosa | Posterior microphthalmos | membrane frizzled-related protein | NANOPHTHALMOS | CRB1 | GENETICS & HEREDITY | OPHTHALMOLOGY | RECESSIVE SYNDROME
Journal Article
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, ISSN 0146-0404, 05/2019, Volume 60, Issue 6, pp. 2049 - 2063
PURPOSE. To assess the phenotypic variability and natural course of inherited retinal diseases (IRDs) caused by EYS mutations. METHODS. Multiethnic cohort... 
ORTHOLOG | RECESSIVE RETINITIS-PIGMENTOSA | macular dystrophy | IDENTIFICATION | inherited retinal disease | GENE | retinitis pigmentosa | OPHTHALMOLOGY | cone-rod dystrophy | MUTATIONS | JAPANESE PATIENTS | EYS | PROGRESSION
Journal Article
Neurología, ISSN 0213-4853, 2016, Volume 34, Issue 4, pp. 248 - 258
Resumen Introducción Las ataxias espinocerebelosas de herencia recesiva constituyen un amplio grupo de enfermedades del cerebelo y/o de sus conexiones; en... 
Neurology | Ataxia-telangiectasia | Wilson disease | Recessive ataxia | Ataxia de Friedreich | Ataxia telangiectasia | Ataxias recesivas | Enfermedad de Wilson | Enfermedad de Niemann-Pick-tipo C | Friedreich ataxia | Niemann-Pick disease type C | Refsum disease | Enfermedad de Refsum
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 2018, Volume 56, Issue 5, pp. 325 - 331
Background L eber congenital amaurosis (LCA) is the earliest and most severe form of inherited retinal dystrophies. In approximately 56% of Chinese probands,... 
Leber congenital amaurosis | mutations | autosomal recessive | USP45 | DISEASE | GENETICS & HEREDITY | Immunohistochemistry | CRISPR | Enzymes | Phenotypes | Immunoglobulins | Congenital diseases | Transcription | Genes | Retina | Genomes | Population genetics | Gene frequency | Blindness | Alleles | Eye diseases | Photoreceptors | Mutation
Journal Article
Neurología (English Edition), ISSN 2173-5808, 05/2019, Volume 34, Issue 4, pp. 248 - 258
Autosomal recessive spinocerebellar ataxia refers to a large group of diseases affecting the cerebellum and/or its connections, although they may also involve... 
Ataxia-telangiectasia | Wilson disease | Recessive ataxia | Ataxia de Friedreich | Ataxia telangiectasia | Friedreich ataxia | Ataxias recesivas | Enfermedad de Wilson | Enfermedad de Niemann-Pick-tipo C | Niemann-Pick disease type C | Refsum disease | Enfermedad de Refsum
Journal Article