Mechanistic Insight into the Pathology of Polyalanine Expansion Disorders Revealed by a Mouse Model for X Linked Hypopituitarism

Sox3 Functions in a Cell-Autonomous Manner to Regulate Spermatogonial Differentiation in Mice

(2011) Monica M. Laronda et al.   ENDOCRINOLOGY

Limb skeletal malformations – What the HOX is going on?

(2011) Nathalie Brison et al.   European Journal of Medical Genetics

Increased Transactivation Associated withSOX3 Polyalanine Tract Deletion in a Patient with Hypopituitarism

(2011) Kyriaki S. Alatzoglou et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

ARX spectrum disorders: making inroads into the molecular pathology

(2010) Cheryl Shoubridge et al.   HUMAN MUTATION

Repeat expansion disease: progress and puzzles in disease pathogenesis

(2010) Albert R. La Spada et al.   NATURE REVIEWS GENETICS

X-linked isolated growth hormone deficiency: expanding the phenotypic spectrum of SOX3 polyalanine tract expansions

(2009) Emma M.M. Burkitt Wright et al.   CLINICAL DYSMORPHOLOGY

Three human ARX mutations cause the lissencephaly-like and mental retardation with epilepsy-like pleiotropic phenotypes in mice

(2009) Kunio Kitamura et al.   HUMAN MOLECULAR GENETICS

The full spectrum of holoprosencephaly-associated mutations within theZIC2gene in humans predicts loss-of-function as the predominant disease mechanism

(2009) Erich Roessler et al.   HUMAN MUTATION

A Triplet Repeat Expansion Genetic Mouse Model of Infantile Spasms Syndrome, Arx(GCG)10+7, with Interneuronopathy, Spasms in Infancy, Persistent Seizures, and Adult Cognitive and Behavioral Impairment

(2009) M. G. Price et al.   JOURNAL OF NEUROSCIENCE

A human mutation in Phox2b causes lack of CO2 chemosensitivity, fatal central apnea, and specific loss of parafacial neurons

(2008) V. Dubreuil et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Minimization of exogenous signals in ES cell culture induces rostral hypothalamic differentiation

(2008) T. Wataya et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA