Caroline Andrews

Evidence for a dual mechanism for IL-10 suppression of TNF-alpha production that does not involve inhibition of p38 mitogen-activated protein kinase or NF-kappa B in primary human macrophages.

Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family.

Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).

Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis.

Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3).

Autosomal dominant hereditary hemochromatosis associated with a novel ferroportin mutation and unique clinical features.

Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development.

A novel KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Marcus Gunn jaw-winking phenomenon.

HOXA1 mutations are not a common cause of Duane anomaly.

Two pedigrees segregating Duane's retraction syndrome as a dominant trait map to the DURS2 genetic locus.

Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1.

Magnetic resonance imaging of the endophenotype of a novel familial Möbius-like syndrome.

Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome.

CHN1 mutations are not a common cause of sporadic Duane's retraction syndrome.

Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance.

HOXA1 mutations are not a common cause of Möbius syndrome.

Which patients with dystonia benefit from deep brain stimulation? A metaregression of individual patient outcomes.

KIF21A mutations in two Chinese families with congenital fibrosis of the extraocular muscles (CFEOM).

Structural grading of foveal hypoplasia using spectral-domain optical coherence tomography a predictor of visual acuity?

Two novel CHN1 mutations in 2 families with Duane retraction syndrome.

Expansion of the CHN1 strabismus phenotype.

The response to rapid infusion of fentanyl in the human brain measured using pulsed arterial spin labelling.

Crystalline cataract caused by a heterozygous missense mutation in γD-crystallin (CRYGD).

HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- mice.

An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation.

A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3.

Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation.

RYR1 mutations as a cause of ophthalmoplegia, facial weakness, and malignant hyperthermia.

Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome.

Pathology in practice. Compound odontoma in a horse.

Pontine malformation, undecussated pyramidal tracts, and regional polymicrogyria: a new syndrome.

Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome.

Expanding the phenotypic spectrum and variability of endocrine abnormalities associated with TUBB3 E410K syndrome.

Generation of a de novo transcriptome from equine lamellar tissue.

Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development.

Interleukin-27 as a Novel Therapy for Inflammatory Bowel Disease: A Critical Review of the Literature.