Recent advances in understanding inheritance of holoprosencephaly

GENETICS IN ENDOCRINOLOGY: Genetic counseling for congenital hypogonadotropic hypogonadism and Kallmann syndrome: new challenges in the era of oligogenism and next-generation sequencing

(2018) Luigi Maione et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Loss-of-function mutations in FGF8 can be independent risk factors for holoprosencephaly

(2018) Sungkook Hong et al.   HUMAN MOLECULAR GENETICS

From a dominant to an oligogenic model of inheritance with environmental modifiers in acute intermittent porphyria

(2018) Hugo Lenglet et al.   HUMAN MOLECULAR GENETICS

ALS Genes in the Genomic Era and their Implications for FTD

(2018) Hung Phuoc Nguyen et al.   TRENDS IN GENETICS

BOC is a modifier gene in holoprosencephaly

(2017) Mingi Hong et al.   HUMAN MUTATION

Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes

(2017) Ange-Line Bruel et al.   JOURNAL OF MEDICAL GENETICS

Genes and molecular pathways underpinning ciliopathies

(2017) Jeremy F. Reiter et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

SIX3 deletions and incomplete penetrance in families affected by holoprosencephaly

(2017) Bethany Stokes et al.   CONGENITAL ANOMALIES

Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario

(2017) Muhammad Umar Ali et al.   3 Biotech

Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario

(2017) Muhammad Umar Ali et al.   3 Biotech

Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis

(2016) James T. Bennett et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing

(2016) C. Mouden et al.   CLINICAL GENETICS

Hedgehog receptor function during craniofacial development

(2016) Guilherme M. Xavier et al.   DEVELOPMENTAL BIOLOGY

Dominant-negative kinase domain mutations inFGFR1can explain the clinical severity of Hartsfield syndrome

(2016) Sungkook Hong et al.   HUMAN MOLECULAR GENETICS

Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway

(2016) Christèle Dubourg et al.   HUMAN MUTATION

Autism genetics - an overview

(2016) Jiani Yin et al.   PRENATAL DIAGNOSIS

22q11.21 Deletion Syndromes: A Review of Proximal, Central, and Distal Deletions and Their Associated Features

(2015) Rachel D. Burnside   CYTOGENETIC AND GENOME RESEARCH

Expanding the Phenotypic Expression of Sonic Hedgehog Mutations Beyond Holoprosencephaly

(2015) Paul Kruszka et al.   JOURNAL OF CRANIOFACIAL SURGERY

Evidence of digenic inheritance in Alport syndrome

(2015) Maria Antonietta Mencarelli et al.   JOURNAL OF MEDICAL GENETICS

Homozygous STIL Mutation Causes Holoprosencephaly and Microcephaly in Two Siblings

(2015) Charlotte Mouden et al.   PLoS One

Novel de novo heterozygousFGFR1mutation in two siblings with Hartsfield syndrome: A case of gonadal mosaicism

(2014) Radhika Dhamija et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Characterization of the human oncogene SCL/TAL1 interrupting locus (Stil) mediated Sonic hedgehog (Shh) signaling transduction in proliferating mammalian dopaminergic neurons

(2014) Lei Sun et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Lack of centrioles and primary cilia inSTIL−/−mouse embryos

(2014) Ahuvit David et al.   CELL CYCLE

STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly

(2014) Naseebullah Kakar et al.   HUMAN GENETICS

Hidden Mutations in Cornelia de Lange Syndrome Limitations of Sanger Sequencing in Molecular Diagnostics

(2014) Diana Braunholz et al.   HUMAN MUTATION

Pathogenic mutations inGLI2cause a specific phenotype that is distinct from holoprosencephaly

(2014) Kelly A Bear et al.   JOURNAL OF MEDICAL GENETICS

Notch signaling and proneural genes work together to control the neural building blocks for the initial scaffold in the hypothalamus

(2014) Michelle Ware et al.   Frontiers in Neuroanatomy

Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis

(2013) O. M'hamdi et al.   CLINICAL GENETICS

FGFR1mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly

(2013) Nicolas Simonis et al.   JOURNAL OF MEDICAL GENETICS

Novel genes upregulated when NOTCH signalling is disrupted during hypothalamic development

(2013) Leslie Ratié et al.   Neural Development

NODAL and SHH dose-dependent double inhibition promotes an HPE-like phenotype in chick embryos

(2012) S. Mercier et al.   Disease Models & Mechanisms

Genotypic and phenotypic analysis of 396 individuals with mutations inSonic Hedgehog

(2012) Benjamin D Solomon et al.   JOURNAL OF MEDICAL GENETICS

Utilizing prospective sequence analysis of SHH, ZIC2, SIX3 and TGIF in holoprosencephaly probands to describe the parameters limiting the observed frequency of mutant gene×gene interactions

(2012) Erich Roessler et al.   MOLECULAR GENETICS AND METABOLISM

Mutations in CDON, Encoding a Hedgehog Receptor, Result in Holoprosencephaly and Defective Interactions with Other Hedgehog Receptors

(2011) Gyu-Un Bae et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Essential Role of Centrosomal NDE1 in Human Cerebral Cortex Neurogenesis

(2011) Mehmet Bakircioglu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2011) Daniel E. Pineda-Alvarez et al.   HUMAN GENETICS

NOTCH, a new signaling pathway implicated in holoprosencephaly

(2011) V. Dupe et al.   HUMAN MOLECULAR GENETICS

NovelFGF8Mutations Associated with Recessive Holoprosencephaly, Craniofacial Defects, and Hypothalamo-Pituitary Dysfunction

(2011) Mark J. McCabe et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases

(2011) S. Mercier et al.   JOURNAL OF MEDICAL GENETICS

Exome sequencing as a tool for Mendelian disease gene discovery

(2011) Michael J. Bamshad et al.   NATURE REVIEWS GENETICS

Holoprosencephaly: An update on cytogenetic abnormalities

(2010) Claude Bendavid 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

Septopreoptic Holoprosencephaly: A Mild Subtype Associated with Midline Craniofacial Anomalies

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

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

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

(2009) Erich Roessler et al.   HUMAN GENETICS

The mutational spectrum of holoprosencephaly-associated changes within theSHHgene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis

(2009) Erich Roessler et al.   HUMAN MUTATION

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

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

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

Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder

(2009) B. A. Fernandez 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

Reduced NODAL Signaling Strength via Mutation of Several Pathway Members Including FOXH1 Is Linked to Human Heart Defects and Holoprosencephaly

(2008) Erich Roessler et al.   AMERICAN JOURNAL OF HUMAN GENETICS