about
Holoprosencephaly: signaling interactions between the brain and the face, the environment and the genes, and the phenotypic variability in animal models and humansUnique alterations of an ultraconserved non-coding element in the 3'UTR of ZIC2 in holoprosencephalyCdon mutation and fetal ethanol exposure synergize to produce midline signaling defects and holoprosencephaly spectrum disorders in miceEthanol itself is a holoprosencephaly-inducing teratogen.Holoprosencephaly and craniosynostosis: A report of two siblings and review of the literatureAbnormal sterol metabolism in holoprosencephalyHoloprosencephaly: a guide to diagnosis and clinical managementHoloprosencephaly: recommendations for diagnosis and managementBoc modifies the spectrum of holoprosencephaly in the absence of Gas1 functionA Hypomorphic Allele in the FGF8 Gene Contributes to Holoprosencephaly and Is Allelic to Gonadotropin-Releasing Hormone Deficiency in HumansMutations in CDON, encoding a hedgehog receptor, result in holoprosencephaly and defective interactions with other hedgehog receptorsThe ubiquitin E3 ligase NOSIP modulates protein phosphatase 2A activity in craniofacial development.Minimal evidence for a direct involvement of twisted gastrulation homolog 1 (TWSG1) gene in human holoprosencephaly.The visual system of zebrafish and its use to model human ocular diseases.TGIF Mutations in Human Holoprosencephaly: Correlation between Genotype and PhenotypeOverweight in mice and enhanced adipogenesis in vitro are associated with lack of the hedgehog coreceptor boc.Cyclopia: an epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research.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 interactionsMolecular analysis of the Noggin (NOG) gene in holoprosencephaly patients.New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases.NOTCH, a new signaling pathway implicated in holoprosencephaly.High Intellectual Function in Individuals with Mutation-Positive Microform HoloprosencephalyComparison of mutation findings in ZIC2 between microform and classical holoprosencephaly in a Brazilian cohortProNodal acts via FGFR3 to govern duration of Shh expression in the prechordal mesodermFunctional characterization of a heterozygous GLI2 missense mutation in patients with multiple pituitary hormone deficiency.NODAL and SHH dose-dependent double inhibition promotes an HPE-like phenotype in chick embryos.Missense substitutions in the GAS1 protein present in holoprosencephaly patients reduce the affinity for its ligand, SHH.Rescue of holoprosencephaly in fetal alcohol-exposed Cdon mutant mice by reduced gene dosage of Ptch1.Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome.Gli2 gene-environment interactions contribute to the etiological complexity of holoprosencephaly: evidence from a mouse model.Holoprosencephaly and holoprosencephaly-like phenotypes: Review of facial and molecular findings in patients from a craniofacial hospital in Brazil.Recent advances in the genetic etiology of brain malformations.Gene-ethanol interactions underlying fetal alcohol spectrum disorders.Hedgehog: Multiple Paths for Multiple Roles in Shaping the Brain and Spinal Cord.Zebrafish zic2 controls formation of periocular neural crest and choroid fissure morphogenesis.LRP2, an auxiliary receptor that controls sonic hedgehog signaling in development and disease.Array comparative genomic hybridization and genomic sequencing in the diagnostics of the causes of congenital anomalies.Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.Fishing for Fetal Alcohol Spectrum Disorders: Zebrafish as a Model for Ethanol Teratogenesis.Cyclopia syndrome.
P2860
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P2860
description
2010 nî lūn-bûn
@nan
2010 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
The molecular genetics of holoprosencephaly.
@ast
The molecular genetics of holoprosencephaly.
@en
type
label
The molecular genetics of holoprosencephaly.
@ast
The molecular genetics of holoprosencephaly.
@en
prefLabel
The molecular genetics of holoprosencephaly.
@ast
The molecular genetics of holoprosencephaly.
@en
P2860
P356
P1476
The molecular genetics of holoprosencephaly.
@en
P2093
Erich Roessler
P2860
P356
10.1002/AJMG.C.30236
P577
2010-02-01T00:00:00Z