Clinical findings in patients with GLI2 mutations - phenotypic variability

Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE

(2010) Jill A. Rosenfeld et al.   HUMAN GENETICS

A novel SIX3 mutation segregates with holoprosencephaly in a large family

(2009) Benjamin D. Solomon et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Characterization of two ectrodactyly-associated translocation breakpoints separated by 2.5 Mb on chromosome 2q14.1–q14.2

(2009) Dezső David et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans

(2009) Erich Roessler et al.   HUMAN GENETICS

EYA4, deleted in a case with middle interhemispheric variant of holoprosencephaly, interacts withSIX3both physically and functionally

(2009) Yuichi Abe et al.   HUMAN MUTATION

Array-CGH analysis indicates a high prevalence of genomic rearrangements in holoprosencephaly: An updated map of candidate loci

(2009) Claude Bendavid et al.   HUMAN MUTATION

A Sonic Hedgehog Missense Mutation Associated with Holoprosencephaly Causes Defective Binding to GAS1

(2009) David C. Martinelli et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Temporomandibular joint formation requires two distinct hedgehog-dependent steps

(2009) P. Purcell et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Induction of mirror-image supernumerary jaws in chicken mandibular mesenchyme by Sonic Hedgehog-producing cells

(2008) J. M. Brito et al.   DEVELOPMENT

A SHH-responsive signaling center in the forebrain regulates craniofacial morphogenesis via the facial ectoderm

(2008) D. Hu et al.   DEVELOPMENT

Combined activity of the two Gli2 genes of zebrafish play a major role in Hedgehog signaling during zebrafish neurodevelopment

(2007) Zhiyuan Ke et al.   MOLECULAR AND CELLULAR NEUROSCIENCE