| scholarly article | Q13442814 |
| P50 | author | Maximilian Muenke | Q62503117 |
| Felicitas Lacbawan | Q71013815 | ||
| P2093 | author name string | Philip A Beachy | |
| Yong Ma | |||
| Christèle Dubourg | |||
| Claude Bendavid | |||
| Erich Roessler | |||
| Maia V Ouspenskaia | |||
| P2860 | cites work | A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and disease-associated human GLI2 | Q24306603 |
| Mutations in the human Sonic Hedgehog gene cause holoprosencephaly | Q28116314 | ||
| Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly | Q28213823 | ||
| Mouse dispatched mutants fail to distribute hedgehog proteins and are defective in hedgehog signaling | Q28505317 | ||
| Hedgehog-mediated patterning of the mammalian embryo requires transporter-like function of dispatched | Q28589361 | ||
| Dispatched, a novel sterol-sensing domain protein dedicated to the release of cholesterol-modified hedgehog from signaling cells | Q28609755 | ||
| Molecular mechanisms of Sonic hedgehog mutant effects in holoprosencephaly. | Q34129727 | ||
| Mouse Disp1 is required in sonic hedgehog-expressing cells for paracrine activity of the cholesterol-modified ligand | Q34372957 | ||
| Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes | Q34472245 | ||
| Multiple hits during early embryonic development: digenic diseases and holoprosencephaly | Q34978312 | ||
| Holoprosencephaly: clinical, anatomic, and molecular dimensions | Q36604059 | ||
| Multicolour FISH and quantitative PCR can detect submicroscopic deletions in holoprosencephaly patients with a normal karyotype | Q36930083 | ||
| The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome | Q36943643 | ||
| Holoprosencephaly: new models, new insights | Q36948731 | ||
| Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features | Q37089385 | ||
| Temporal perturbations in sonic hedgehog signaling elicit the spectrum of holoprosencephaly phenotypes. | Q37346093 | ||
| Functional characterization of sonic hedgehog mutations associated with holoprosencephaly | Q40528928 | ||
| Inactivation of dispatched 1 by the chameleon mutation disrupts Hedgehog signalling in the zebrafish embryo | Q44863919 | ||
| Holoprosencephaly in human embryos: Epidemiologic studies of 150 cases | Q45159232 | ||
| Mouse Dispatched homolog1 is required for long-range, but not juxtacrine, Hh signaling | Q48279054 | ||
| The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly. | Q52173272 | ||
| P433 | issue | 4 | |
| P921 | main subject | holoprosencephaly | Q1459821 |
| P304 | page(s) | 393-400 | |
| P577 | publication date | 2009-01-31 | |
| P1433 | published in | Human Genetics | Q5937167 |
| P1476 | title | Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans | |
| P478 | volume | 125 |
| Q34041361 | Abnormal sterol metabolism in holoprosencephaly |
| Q33625707 | Analysis of genotype-phenotype correlations in human holoprosencephaly |
| Q53061019 | Annals of morphology fields and prepatterns. Editorial Festschrift for John C. Carey, MD, MPH. |
| Q34048812 | Boc modifies the spectrum of holoprosencephaly in the absence of Gas1 function |
| Q24297817 | Characterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDH |
| Q51918192 | Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE. |
| Q35103234 | Clinical findings in patients with GLI2 mutations--phenotypic variability. |
| Q52889926 | Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing. |
| Q33624701 | Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients |
| Q57833355 | Derivation and characterization of putative craniofacial mesenchymal progenitor cells from human induced pluripotent stem cells |
| Q91995541 | Dosage analysis of the 7q11.23 Williams region identifies BAZ1B as a major human gene patterning the modern human face and underlying self-domestication |
| Q88674729 | Extracephalic manifestations of nonchromosomal, nonsyndromic holoprosencephaly |
| Q38641243 | Facial Morphogenesis: Physical and Molecular Interactions Between the Brain and the Face. |
| Q35581878 | Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia |
| Q38732773 | Hedgehog receptor function during craniofacial development |
| Q46954297 | In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics |
| Q37697812 | Molecular analysis of holoprosencephaly in South America |
| Q64980436 | Molecular testing in holoprosencephaly. |
| Q97078904 | Mood Stabilizing Antiepileptic Treatment Response in Bipolar Disorder: A Genome-Wide Association Study |
| Q36079207 | NOTCH, a new signaling pathway implicated in holoprosencephaly. |
| Q38236029 | Pharmacogenetics of antidepressant treatment in obsessive-compulsive disorder: an update and implications for clinicians |
| Q54414790 | Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizures. |
| Q63722685 | The hedgehog pathway and ocular developmental anomalies |
| Q33624762 | The molecular genetics of holoprosencephaly |
| Q37411003 | The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis |
| Q36792187 | The relationship between sonic Hedgehog signaling, cilia, and neural tube defects |
| Q34329523 | The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes |
| Q35842931 | 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 |
| Q30932086 | Zebrafish con/disp1 reveals multiple spatiotemporal requirements for Hedgehog-signaling in craniofacial development |
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