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Dobyns, William
One or more keywords matched the following items that are connected to Dobyns, William
Item TypeName
Concept Eye Movements
Concept Eye Diseases
Concept Eye Proteins
Concept Eye Neoplasms
Concept Eye Abnormalities
Concept Eye Diseases, Hereditary
Concept Eye
Academic Article Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function.
Academic Article POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.
Academic Article Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.
Academic Article Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.
Academic Article Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype.
Academic Article Cerebello-oculo-renal syndromes including Arima, Senior-Löken and COACH syndromes: more than just variants of Joubert syndrome.
Academic Article Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.
Academic Article Familial cavernous malformations of the central nervous system and retina.
Academic Article Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome.
Academic Article Epidermal nevus syndrome: a neurologic variant with hemimegalencephaly, gyral malformation, mental retardation, seizures, and facial hemihypertrophy.
Academic Article Cobblestone lissencephaly with normal eyes and muscle.
Academic Article Enzymatic diagnostic test for Muscle-Eye-Brain type congenital muscular dystrophy using commercially available reagents.
Academic Article Autosomal dominant torsion dystonia with onset in infancy.
Academic Article Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease.
Academic Article Brain anomalies in encephalocraniocutaneous lipomatosis.
Academic Article Carriers and patients with muscle-eye-brain disease can be rapidly diagnosed by enzymatic analysis of fibroblasts and lymphoblasts.
Academic Article COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans.
Academic Article A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype.
Academic Article Copy number variation analysis in 98 individuals with PHACE syndrome.
Academic Article Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset.
Academic Article Microcephaly, jejunal atresia, aberrant right bronchus, ocular anomalies, and XY sex reversal.
Academic Article Diagnostic criteria for Walker-Warburg syndrome.
Academic Article Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.
Academic Article Classification of the cerebro-oculo-muscular syndrome(s). Commentary to Kimura's paper (pp. 182-91)
Academic Article Syndromes with lissencephaly. II: Walker-Warburg and cerebro-oculo-muscular syndromes and a new syndrome with type II lissencephaly.
Academic Article A novel SIX3 mutation segregates with holoprosencephaly in a large family.
Academic Article Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.
Academic Article Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.
Academic Article Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.
Academic Article Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.
Academic Article Structural malformations of the brain, eye, and pituitary gland in PHACE syndrome.
Academic Article An update on oculocerebrocutaneous (Delleman-Oorthuys) syndrome.
Academic Article De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies.
Academic Article Immune Evasion Strategies Used by Zika Virus to Infect the Fetal Eye and Brain.
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