Connection | Profiles RNS

Search Result Details

Back to Search Results

This page shows the details of why an item matched the keywords from your search.

Search Results

Dobyns, William

One or more keywords matched the following items that are connected to Dobyns, William

Item Type	Name
Concept	Eye Abnormalities
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	Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome.
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	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	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	Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.
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.

Search Criteria

Eye Abnormalities