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Human Genetics, ISSN 0340-6717, 03/2015, Volume 134, Issue 4, pp. 451 - 453
Stickler syndrome (SS) is a collagenopathy characterized by arthropathy and vitreoretinopathy with high myopia and cleft palate as common features. In a family... 
GENETICS & HEREDITY | Amino Acid Sequence | Humans | Molecular Sequence Data | Male | Arthritis | Collagen Diseases - genetics | Mutation, Missense | Hearing Loss, Sensorineural | Genes, Recessive | Amino Acid Oxidoreductases - genetics | Connective Tissue Diseases | Retinal Detachment | Pedigree | Base Sequence | Adolescent | Family | Female | Consanguinity | Child | Oxidases | Collagen
Journal Article
Nature Cell Biology, ISSN 1465-7392, 2015, Volume 17, Issue 8, pp. 1074 - 1087
Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic disorders. We describe a whole-genome siRNA-based reverse genetics... 
JOUBERT-SYNDROME | RPGRIP1 | TRANSPORT | CENTRIOLE BIOGENESIS | PROTEIN | C-ELEGANS | MUTATIONS | PHOTORECEPTOR CELLS | MASTER REGULATOR | PRIMARY CILIA | CELL BIOLOGY | Humans | Pregnancy Proteins - genetics | Databases, Genetic | Suppressor Factors, Immunologic - genetics | Photoreceptor Cells - ultrastructure | Pregnancy Proteins - metabolism | Ellis-Van Creveld Syndrome - genetics | Cerebellum - abnormalities | Genetic Testing - methods | Suppressor Factors, Immunologic - metabolism | Membrane Proteins - deficiency | Transfection | RNA Interference | HEK293 Cells | Kidney Diseases, Cystic - genetics | Genomics - methods | Genetic Predisposition to Disease | Genome-Wide Association Study | Reproducibility of Results | Caenorhabditis elegans - metabolism | Cilia - pathology | Caenorhabditis elegans - genetics | Membrane Proteins - genetics | Mice, Inbred C57BL | Abnormalities, Multiple | Genetic Markers | Eye Abnormalities - genetics | Cilia - metabolism | Zebrafish - genetics | Cilia - genetics | Mice, Knockout | Proteins - genetics | Caenorhabditis elegans - ultrastructure | Phenotype | Animals | Cerebellar Diseases - genetics | Ciliary Motility Disorders - pathology | Proteins - metabolism | Photoreceptor Cells - metabolism | Zebrafish - metabolism | Retina - abnormalities | High-Throughput Nucleotide Sequencing | Ciliary Motility Disorders - metabolism | Mutation | Ciliary Motility Disorders - genetics | RNA | Cilia and ciliary motion | Genetic research | Biosynthesis | Genetic aspects | Research | Gene expression | Properties | reverse genetics | cilia | ciliopathies | Joubert syndrome | whole-genome siRNA screen | Jeune syndrome
Journal Article
American Journal of Case Reports, ISSN 1941-5923, 04/2018, Volume 19, pp. 500 - 504
BACKGROUND Aicardi-Goutières syndrome (AGS) is a rare autosomal recessive encephalopathy of early onset. AGS visual dysfunction range from nystagmus and optic... 
Saudi Arabia | Aicardi syndrome | Aniridia | Tertiary care centers
Journal Article
International Journal of Pediatric Otorhinolaryngology, ISSN 0165-5876, 05/2018, Volume 108, pp. 17 - 21
Journal Article
The American journal of case reports, ISSN 1941-5923, 09/2019, Volume 20, pp. 1308 - 1313
BACKGROUND Infantile nephropathic cystinosis is the most common and severe variant of cystinosis, which is a rare autosomal recessive condition related to a... 
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 03/2013, Volume 92, Issue 3, pp. 387 - 391
Microphthalmia is an important developmental eye disorder. Although mutations in several genes have been linked to this condition, they only account for a... 
Brain | Missense mutation | Eye disorders | Corpus callosum | Heterozygosity | Microphthalmia | Seizures
Journal Article
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