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The American Journal of Human Genetics, ISSN 0002-9297, 12/2016, Volume 99, Issue 6, pp. 1305 - 1315
Journal Article
Journal Article
Cell Stem Cell, ISSN 1934-5909, 06/2016, Volume 18, Issue 6, pp. 769 - 781
Leber congenital amaurosis (LCA) is an inherited retinal dystrophy that causes childhood blindness. Photoreceptors are especially sensitive to an intronic... 
RETINAL DEGENERATION | JOUBERT-SYNDROME | CELLS | LEBER CONGENITAL AMAUROSIS | TRANSITION ZONE | MUTATION | GENES | LINKED RETINITIS-PIGMENTOSA | CEP290 | CENTROSOMAL PROTEIN | CELL & TISSUE ENGINEERING | CELL BIOLOGY | Leber Congenital Amaurosis - pathology | Optic Disk - cytology | Retinal Pigment Epithelium - metabolism | Humans | Blindness - pathology | Male | Organogenesis - drug effects | Neoplasm Proteins - metabolism | RNA, Messenger - metabolism | Retinal Pigment Epithelium - pathology | Retinal Pigment Epithelium - ultrastructure | RNA Splicing - genetics | Antigens, Neoplasm - metabolism | Cilia - drug effects | Inheritance Patterns - genetics | Blindness - therapy | Induced Pluripotent Stem Cells - cytology | Neoplasm Proteins - genetics | Fibroblasts - metabolism | Induced Pluripotent Stem Cells - metabolism | Retinal Pigment Epithelium - drug effects | rab GTP-Binding Proteins - metabolism | Antigens, Neoplasm - genetics | RNA Splicing - drug effects | Photoreceptor Cells, Vertebrate - ultrastructure | Induced Pluripotent Stem Cells - drug effects | RNA, Messenger - genetics | Exons - genetics | Fibroblasts - pathology | Cilia - metabolism | Eye Proteins - metabolism | Cell Differentiation - drug effects | Fibroblasts - drug effects | Morpholinos - pharmacology | Opsins - metabolism | Photoreceptor Cells, Vertebrate - metabolism | Photoreceptor Cells, Vertebrate - pathology | Index Medicus
Journal Article
PLoS ONE, ISSN 1932-6203, 09/2012, Volume 7, Issue 9, pp. e45495 - e45495
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 12/2016, Volume 99, Issue 6, pp. 1338 - 1352
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2013, Volume 93, Issue 2, pp. 321 - 329
Journal Article
PLoS ONE, ISSN 1932-6203, 08/2014, Volume 9, Issue 8, pp. e104163 - e104163
We describe novel CHRDL1 mutations in ten families with X-linked megalocornea (MGC1). Our mutation-positive cohort enabled us to establish ultrasonography as a... 
CHROMOSOME | POPULATION | MENTAL-RETARDATION SYNDROME | MULTIDISCIPLINARY SCIENCES | BUPHTHALMOS | LTBP2 | DIFFERENTIATION | HYPOGONADISM | PRIMARY CONGENITAL GLAUCOMA | GENOME-WIDE ASSOCIATION | CUL4B GENE | Corneal Diseases - diagnostic imaging | Megalencephaly - diagnostic imaging | Humans | Middle Aged | Child, Preschool | Intellectual Disability - complications | Male | Intellectual Disability - genetics | Young Adult | Corneal Diseases - genetics | Genes, X-Linked | Ultrasonography | Adult | Epilepsy - genetics | Female | Genetic Diseases, X-Linked - diagnostic imaging | Genetic Diseases, X-Linked - genetics | Eye Proteins - genetics | Cerebral Palsy - diagnostic imaging | Megalencephaly - genetics | Muscle Hypotonia - complications | Genetic Predisposition to Disease | Eye Diseases, Hereditary - diagnostic imaging | Muscle Hypotonia - genetics | Genetic Association Studies | Intellectual Disability - diagnostic imaging | Mutation - genetics | Glaucoma - congenital | Nerve Tissue Proteins - genetics | Epilepsy - complications | Eye Diseases, Hereditary - genetics | Exome - genetics | Phenotype | Pedigree | Adolescent | Family | Glaucoma - genetics | Cerebral Palsy - genetics | Corneal Pachymetry | Glaucoma | Phenotypes | Cornea | Intellectual disabilities | Health risks | Genomes | Single-nucleotide polymorphism | Epidemiology | Loci | Eye | Proteins | Missense mutation | Etiology | Diagnostic software | Genetics | Diagnostic systems | Mutation | Bioinformatics | Chromosomes | Polymorphism | Index Medicus
Journal Article
Journal Article
Journal Article