Pontocerebellar hypoplasia in association with de novo 19p13.11p13.12 microdeletion

TSEN54 mutations cause pontocerebellar hypoplasia type 5

(2011) Yasmin Namavar et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Pontocerebellar hypoplasia type 6: A British case with PEHO-like features

(2010) Julia Rankin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

(2010) Yasmin Namavar et al.   BRAIN

Genotype–phenotype relationship in three cases with overlapping 19p13.12 microdeletions

(2010) Maria C Bonaglia et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A boy with mental retardation, obesity and hypertrichosis caused by a microdeletion of 19p13.12

(2010) Nathalie Van der Aa et al.   European Journal of Medical Genetics

A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies

(2009) Daniel R. Jensen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genetic mutation in pontocerebellar hypoplasia

(2009) AJ Ajibola et al.   CLINICAL GENETICS

RNA helicase Ddx39 is expressed in the developing central nervous system, limb, otic vesicle, branchial arches and facial mesenchyme of Xenopus laevis

(2009) Jonathan M. Wilson et al.   GENE EXPRESSION PATTERNS

Cerebellar development and disease

(2008) Kathleen J Millen et al.   CURRENT OPINION IN NEUROBIOLOGY

High-affinity Na+/K+-dependent glutamate transporter EAAT4 is expressed throughout the rat fore- and midbrain

(2008) Ann Massie et al.   JOURNAL OF COMPARATIVE NEUROLOGY

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

(2008) Birgit S Budde et al.   NATURE GENETICS