Search for genes involved in Joubert syndrome: Evidence that one or more major loci are yet to be identified and exclusion of candidate genesEN1,EN2,FGF8, andBARHL1
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Reference23 articles.
1. Joubert Syndrome: Episodic Hyperpnea, Abnormal Eye Movements, Retardation and Ataxia, Associated with Dysplasia of the Cerebellar Vermis
2. Barhl1, a gene belonging to a new subfamily of mammalian homeobox genes, is expressed in migrating neurons of the CNS
3. Analysis of the DNA duplication 17p11.2 in Charcot-Marie-Tooth neuropathy type 1 pedigrees: Additional evidence for a third autosomal CMT1 locus
4. Clinical Nosologic and Genetic Aspects of Joubert and Related Syndromes
5. A comprehensive genetic map of the human genome based on 5,264 microsatellites
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1. Clinical Phenotypes Associated to Engrailed 2 Gene Alterations in a Series of Neuropediatric Patients;Frontiers in Neuroanatomy;2018-08-10
2. Neuro-Ophthalmologic Manifestations of Systemic and Intracranial Disease;Pediatric Neuro-Ophthalmology;2016
3. BMP/Smad signaling and embryonic cerebellum development: Stem cell specification and heterogeneity of anterior rhombic lip;Development, Growth & Differentiation;2015-02
4. Joubert syndrome: Clinical and radiological characteristics of nine patients;Annals of Indian Academy of Neurology;2013
5. Craniovertebral junction abnormality in a case of Joubert syndrome;Child's Nervous System;2012-01-10
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