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Human molecular genetics, ISSN 0964-6906, 12/2015, Volume 24, Issue 23, pp. 6603 - 6613
Journal Article
Graefe's Archive for Clinical and Experimental Ophthalmology, ISSN 0721-832X, 10/2016, Volume 254, Issue 10, pp. 1951 - 1956
To describe congenital stationary night blindness (CSNB) with negative electroretinogram, hypoplastic discs, nystagmus and thinning of the inner nuclear layer... 
Optic disc hypoplasia | Full-field electroretinography | Congenital stationary night blindness | Ophthalmology | Medicine & Public Health | Optical coherence tomography | GENOTYPE | PHENOTYPE | OPHTHALMOLOGY | NYCTALOPIN | UPDATE | RICH | MUTATIONS | Retinal Bipolar Cells - pathology | Retinal Diseases - genetics | Diseases in Twins - genetics | Eye Abnormalities - diagnostic imaging | Frameshift Mutation | Humans | Nystagmus, Pathologic - genetics | Male | Retinal Diseases - diagnostic imaging | Dark Adaptation | Young Adult | Myopia - diagnosis | Polymerase Chain Reaction | Genetic Diseases, X-Linked - diagnostic imaging | Genetic Diseases, X-Linked - genetics | Retrospective Studies | Night Blindness - genetics | Visual Acuity - physiology | Genetic Diseases, X-Linked - physiopathology | Electroretinography | Myopia - diagnostic imaging | Eye Diseases, Hereditary - diagnostic imaging | Eye Diseases, Hereditary - physiopathology | Optic Disk - abnormalities | Tomography, Optical Coherence | Genotype | Nystagmus, Pathologic - physiopathology | Eye Abnormalities - genetics | Night Blindness - diagnostic imaging | Eye Diseases, Hereditary - genetics | Myopia - genetics | Myopia - physiopathology | Nystagmus, Pathologic - diagnosis | Pedigree | Night Blindness - physiopathology | TRPM Cation Channels - genetics | Eye Abnormalities - physiopathology | Consanguinity | Retinal Diseases - physiopathology | Genetic disorders | Index Medicus | Clinical Medicine | Medical and Health Sciences | Medicin och hälsovetenskap | Oftalmologi | Klinisk medicin
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 07/2013, Volume 21, Issue 7, pp. 736 - 742
Journal Article
BMC Genomics, ISSN 1471-2164, 05/2011, Volume 12, Issue 1, pp. 258 - 258
Background: Trapped Neutrophil Syndrome (TNS) is a common autosomal recessive neutropenia in Border collie dogs. Results: We used a candidate gene approach and... 
Trapped neutrophil syndrome | Expression | Vesicle protein sorting 13 b | VPS13B | Dog | Cohen syndrome | Vesicle transport | Neutropenia | expression | PROTEIN | MUTATIONAL SPECTRUM | vesicle protein sorting 13 B | neutropenia | vesicle transport | NATURAL-HISTORY | FEATURES | HETEROGENEITY | Cohen Syndrome | BORDER COLLIES | GENE | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | Trapped Neutrophil Syndrome | GENETICS & HEREDITY | LINKAGE ANALYSIS | dog | Microcephaly - genetics | Neutropenia - veterinary | Humans | Molecular Sequence Data | Developmental Disabilities - genetics | Fingers - physiopathology | Obesity - genetics | Intellectual Disability - genetics | Dog Diseases - physiopathology | Base Sequence | Microcephaly - physiopathology | Fingers - abnormalities | Neutropenia - genetics | Disease Models, Animal | Genetic Linkage | Amino Acid Sequence | Developmental Disabilities - physiopathology | Muscle Hypotonia - genetics | Vesicular Transport Proteins - genetics | Dog Diseases - genetics | Exons - genetics | Genotype | Obesity - physiopathology | Vesicular Transport Proteins - chemistry | Syndrome | Intellectual Disability - physiopathology | Myopia - genetics | Animals | Muscle Hypotonia - physiopathology | Myopia - physiopathology | Dogs | Mice | Sequence Analysis | Neutropenia - physiopathology | Gene mutations | Neutrophilia | Genetic aspects | Research | Health aspects | Risk factors | Index Medicus
Journal Article
British Journal of Ophthalmology, ISSN 0007-1161, 04/2016, Volume 100, Issue 4, pp. 495 - 500
BackgroundThe GNAT1 gene encodes the α subunit of the rod transducin protein, a key element in the rod phototransduction cascade. Variants in GNAT1 have been... 
Genetics | Retina | Degeneration | CGMP-PHOSPHODIESTERASE | NOUGARET FORM | DATABASE | TRANSDUCIN ALPHA-SUBUNIT | ROD TRANSDUCIN | RECESSIVE RETINITIS-PIGMENTOSA | OPHTHALMOLOGY | UPDATE | GENOME | STATIONARY NIGHT BLINDNESS | Humans | Middle Aged | Molecular Sequence Data | Eye Diseases, Hereditary - diagnosis | Male | Heterotrimeric GTP-Binding Proteins - genetics | Base Sequence | Myopia - diagnosis | Aged, 80 and over | Adult | Female | Genetic Diseases, X-Linked - genetics | Eye Proteins - genetics | Night Blindness - genetics | Retinitis Pigmentosa - physiopathology | Genetic Diseases, X-Linked - physiopathology | Siblings | Electroretinography | Amino Acid Sequence | Eye Diseases, Hereditary - physiopathology | Tomography, Optical Coherence | Night Blindness - diagnosis | Retina - physiopathology | Retinitis Pigmentosa - genetics | Codon, Nonsense | Genetic Diseases, X-Linked - diagnosis | Eye Diseases, Hereditary - genetics | Retinitis Pigmentosa - diagnosis | Myopia - genetics | DNA - isolation & purification | Myopia - physiopathology | Night Blindness - physiopathology | Aged | High-Throughput Nucleotide Sequencing | Genetically modified mice | Retinal degeneration | Care and treatment | Research | Gene mutations | Risk factors | Proteins | Diabetic retinopathy | Genes | Tomography | Photoreceptors | Mutation | Patients | Age | Deoxyribonucleic acid--DNA | Index Medicus | Clinical Science | 1506
Journal Article
Pediatric Nephrology, ISSN 0931-041X, 6/2015, Volume 30, Issue 6, pp. 1027 - 1031
The megalin/cubilin/amnionless complex is essential for albumin and low molecular weight (LMW) protein reabsorption by renal proximal tubules (PT). Mutations... 
Low-molecular-weight proteins | Pediatrics | Nephrology | Facio-oculo-acoustico-renal syndrome | Medicine & Public Health | Receptor-mediated endocytosis | Cubilin | Type 3 carbonic anhydrase | Megalin | Urology | CLC-5 | UROLOGY & NEPHROLOGY | PROTEINURIA | PEDIATRICS | MICE | CHLORIDE CHANNEL | Agenesis of Corpus Callosum - diagnosis | Immunohistochemistry | Predictive Value of Tests | Prognosis | Humans | Hearing Loss, Sensorineural - urine | Child, Preschool | Renal Tubular Transport, Inborn Errors - genetics | Carbonic Anhydrase III - urine | Endocytosis | Hearing Loss, Sensorineural - diagnosis | DNA Mutational Analysis | Agenesis of Corpus Callosum - genetics | Myopia - diagnosis | Proteinuria - urine | Renal Tubular Transport, Inborn Errors - urine | Hernias, Diaphragmatic, Congenital - urine | Female | Low Density Lipoprotein Receptor-Related Protein-2 - genetics | Proteinuria - diagnosis | Renal Tubular Transport, Inborn Errors - diagnosis | Renal Tubular Transport, Inborn Errors - physiopathology | Kidney Tubules, Proximal - ultrastructure | Kidney Tubules, Proximal - physiopathology | Genetic Predisposition to Disease | Receptors, Cell Surface - metabolism | Agenesis of Corpus Callosum - physiopathology | Hearing Loss, Sensorineural - genetics | Hernias, Diaphragmatic, Congenital - diagnosis | Proteinuria - genetics | Microscopy, Electron | Proteinuria - physiopathology | Myopia - genetics | Myopia - urine | Hernias, Diaphragmatic, Congenital - genetics | Phenotype | Myopia - physiopathology | Biopsy | Kidney Tubules, Proximal - metabolism | Mutation | Hernias, Diaphragmatic, Congenital - physiopathology | Agenesis of Corpus Callosum - urine | Hearing Loss, Sensorineural - physiopathology | Genetic disorders | Research | Analysis | Risk factors | Index Medicus
Journal Article
Journal Article
Cornea, ISSN 0277-3740, 05/2019, Volume 38, Issue 5, pp. 617 - 623
Journal Article