Missense substitutions in the GAS1 protein present in holoprosencephaly patients reduce the affinity for its ligand, SHH

Holoprosencephaly and holoprosencephaly-like phenotype and GAS1 DNA sequence changes: Report of four Brazilian patients

(2010) Lucilene Arilho Ribeiro et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients

(2010) Daniel E. Pineda-Alvarez et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Analysis of genotype-phenotype correlations in human holoprosencephaly

(2010) Benjamin D. Solomon et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Neuroimaging advances in holoprosencephaly: Refining the spectrum of the midline malformation

(2010) Jin S. Hahn et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

The molecular genetics of holoprosencephaly

(2010) Erich Roessler et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Genetic and biochemical definition of the Hedgehog receptor

(2010) X. Zheng et al.   GENES & DEVELOPMENT

Interactions between Hedgehog proteins and their binding partners come into view

(2010) P. A. Beachy et al.   GENES & DEVELOPMENT

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

A novel SIX3 mutation segregates with holoprosencephaly in a large family

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

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

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

The Full-length Unprocessed Hedgehog Protein Is an Active Signaling Molecule

(2009) Robert Tokhunts et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function

(2009) F Lacbawan et al.   JOURNAL OF MEDICAL GENETICS

Mutations in ZIC2 in human holoprosencephaly: description of a Novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals

(2009) B. D. Solomon et al.   JOURNAL OF MEDICAL GENETICS

Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly

(2009) Erich Roessler et al.   MOLECULAR GENETICS AND METABOLISM

Mutations in the human SIX3 gene in holoprosencephaly are loss of function

(2008) Sabina Domené et al.   HUMAN MOLECULAR GENETICS