Holoprosencephaly: signaling interactions between the brain and the face, the environment and the genes, and the phenotypic variability in animal models and humans

Embryonic bauplans and the developmental origins of facial diversity and constraint

(2014) N. M. Young et al.   DEVELOPMENT

The Teratogenic Effects of Prenatal Ethanol Exposure Are Exacerbated by Sonic Hedgehog or Gli2 Haploinsufficiency in the Mouse

(2014) Henry W. Kietzman et al.   PLoS One

Setting appropriate boundaries: Fate, patterning and competence at the neural plate border

(2013) Andrew K. Groves et al.   DEVELOPMENTAL BIOLOGY

Maternal Diet Supplementation with Methyl Donors and Increased Parity Affect the Incidence of Craniofacial Defects in the Offspring of Twisted gastrulation Mutant Mice

(2013) Charles J. Billington et al.   JOURNAL OF NUTRITION

Dorsal-ventral patterning of the neural tube: A tale of three signals

(2012) Gwenvael Le Dréau et al.   Developmental Neurobiology

Mutations in Hedgehog Acyltransferase (Hhat) Perturb Hedgehog Signaling, Resulting in Severe Acrania-Holoprosencephaly-Agnathia Craniofacial Defects

(2012) Jennifer F. Dennis et al.   PLoS Genetics

Loss of Tgif Function Causes Holoprosencephaly by Disrupting the Shh Signaling Pathway

(2012) Kenichiro Taniguchi et al.   PLoS Genetics

Mechanisms that underlie co-variation of the brain and face

(2011) Ralph S. Marcucio et al.   GENESIS

Noggin null allele mice exhibit a microform of holoprosencephaly

(2011) Eva Lana-Elola et al.   HUMAN MOLECULAR GENETICS

Genesis of teratogen-induced holoprosencephaly in mice

(2010) Robert J. Lipinski et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Holoprosencephaly and agnathia spectrum: Presentation of two new patients and review of the literature

(2010) Emily F. Kauvar et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Management of children with holoprosencephaly

(2010) Eric B. Levey et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

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

Risk factors for non-syndromic holoprosencephaly in the National Birth Defects Prevention Study

(2010) Eric A. Miller et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Holoprosencephaly due to numeric chromosome abnormalities

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

Genetic counseling and “molecular” prenatal diagnosis of holoprosencephaly (HPE)

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

Non-genetic risk factors for holoprosencephaly

(2010) Candice Y. Johnson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Early pathogenesis of holoprosencephaly

(2010) Kohei Shiota 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

Epidemiology of holoprosencephaly: Prevalence and risk factors

(2010) Iêda M. Orioli et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Cyclopia (synophthalmia) in Smith-Lemli-Opitz syndrome: First reported case and consideration of mechanism

(2010) David D. Weaver 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

Neuropathology of holoprosencephaly

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

Septopreoptic Holoprosencephaly: A Mild Subtype Associated with Midline Craniofacial Anomalies

(2010) J.S. Hahn et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

The relationship between sonic Hedgehog signaling, cilia, and neural tube defects

(2010) Jennifer N. Murdoch et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

Prenatal Ultrasound Diagnosis in 51 Cases of Holoprosencephaly: Craniofacial Anatomy, Associated Malformations, and Genetics

(2010) M. Wenghoefer et al.   CLEFT PALATE-CRANIOFACIAL JOURNAL

Holoprosencephaly: recommendations for diagnosis and management

(2010) Emily F Kauvar et al.   CURRENT OPINION IN PEDIATRICS

Quantitative analyses link modulation of sonic hedgehog signaling to continuous variation in facial growth and shape

(2010) N. M. Young et al.   DEVELOPMENT

Boc modifies the holoprosencephaly spectrum of Cdo mutant mice

(2010) W. Zhang et al.   Disease Models & Mechanisms

Minimal evidence for a direct involvement of twisted gastrulation homolog 1 (TWSG1) gene in human holoprosencephaly☆

(2010) Emily F. Kauvar et al.   MOLECULAR GENETICS AND METABOLISM

Hedgehog signalling: Emerging evidence for non-canonical pathways

(2009) Dagan Jenkins   CELLULAR SIGNALLING

Selective Depletion of Molecularly Defined Cortical Interneurons in Human Holoprosencephaly with Severe Striatal Hypoplasia

(2009) Sofia Fertuzinhos et al.   CEREBRAL CORTEX

The ups and downs of holoprosencephaly: dorsal versus ventral patterning forces

(2009) M Fernandes et al.   CLINICAL GENETICS

Expression of WNT signalling pathway genes during chicken craniofacial development

(2009) Poongodi Geetha-Loganathan et al.   DEVELOPMENTAL DYNAMICS

Deciphering the Palimpsest: Studying the Relationship Between Morphological Integration and Phenotypic Covariation

(2009) Benedikt Hallgrímsson et al.   Evolutionary Biology

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

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

Pathogenesis of holoprosencephaly

(2009) Xin Geng et al.   JOURNAL OF CLINICAL INVESTIGATION

Stochastic epigenetic variation as a driving force of development, evolutionary adaptation, and disease

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

Genes and signaling events that establish regional patterning of the mammalian forebrain

(2009) Renée V. Hoch et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

The clinical atlas of Greig cephalopolysyndactyly syndrome

(2008) Katherine Balk et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Diabetes mellitus and birth defects

(2008) Adolfo Correa et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

Fetal ethanol exposure activates protein kinase a and impairsShh expression in prechordal mesendoderm cells in the pathogenesis of holoprosencephaly

(2008) Kazushi Aoto et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

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

(2008) D. Hu et al.   DEVELOPMENT

Unique organization of the frontonasal ectodermal zone in birds and mammals

(2008) Diane Hu et al.   DEVELOPMENTAL BIOLOGY

Short-faced mice and developmental interactions between the brain and the face

(2008) Julia C. Boughner et al.   JOURNAL OF ANATOMY

Hhat Is a Palmitoylacyltransferase with Specificity forN-Palmitoylation of Sonic Hedgehog

(2008) John A. Buglino et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Ongoing sonic hedgehog signaling is required for dorsal midline formation in the developing forebrain

(2007) Monica Hayhurst et al.   Developmental Neurobiology