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Pathogenesis of holoprosencephaly
scientific article published on June 2009
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PMCID
2689134
retrieved
20 August 2017
review article
1 reference
stated in
Europe PubMed Central
title
Pathogenesis of holoprosencephaly
(English)
1 reference
stated in
Europe PubMed Central
PMCID
2689134
retrieved
20 August 2017
main subject
pathogenesis
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holoprosencephaly
1 reference
based on heuristic
inferred from title
author name string
Xin Geng
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMCID
2689134
retrieved
20 August 2017
Guillermo Oliver
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMCID
2689134
retrieved
20 August 2017
language of work or name
English
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publication date
1 June 2009
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stated in
Europe PubMed Central
PMCID
2689134
retrieved
20 August 2017
published in
Journal of Clinical Investigation
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stated in
Europe PubMed Central
PMCID
2689134
retrieved
20 August 2017
volume
119
1 reference
stated in
Europe PubMed Central
PMCID
2689134
retrieved
20 August 2017
page(s)
1403-1413
1 reference
stated in
Europe PubMed Central
PMCID
2689134
retrieved
20 August 2017
issue
6
1 reference
stated in
Europe PubMed Central
PMCID
2689134
retrieved
20 August 2017
cites work
The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism
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23 August 2017
Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein
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23 August 2017
Mutations in the human SIX3 gene in holoprosencephaly are loss of function
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PubMed Central
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23 August 2017
Haploinsufficiency of Six3 fails to activate Sonic hedgehog expression in the ventral forebrain and causes holoprosencephaly
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PubMed Central
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23 August 2017
Zic2-associated holoprosencephaly is caused by a transient defect in the organizer region during gastrulation
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PubMed Central
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23 August 2017
Six3 inactivation causes progressive caudalization and aberrant patterning of the mammalian diencephalon
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23 August 2017
Holoprosencephaly: new models, new insights
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23 August 2017
The morphogen signaling network in forebrain development and holoprosencephaly
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PubMed Central
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23 August 2017
Proposal of a model of mammalian neural induction
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23 August 2017
Gas1 is a modifier for holoprosencephaly and genetically interacts with sonic hedgehog
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PubMed Central
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23 August 2017
The Hedgehog-binding proteins Gas1 and Cdo cooperate to positively regulate Shh signaling during mouse development
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PubMed Central
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23 August 2017
Gene function in mouse embryogenesis: get set for gastrulation
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23 August 2017
Nodal signaling: developmental roles and regulation.
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23 August 2017
Holoprosencephaly
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PubMed Central
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23 August 2017
Intragenic deletion of Tgif causes defectsin brain development
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23 August 2017
Cdc42 deficiency causes Sonic hedgehog-independent holoprosencephaly
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PubMed Central
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23 August 2017
Orchestrating ontogenesis: variations on a theme by sonic hedgehog
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PubMed Central
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23 August 2017
Holoprosencephaly: clinical, anatomic, and molecular dimensions
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PubMed Central
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23 August 2017
Central roles of the roof plate in telencephalic development and holoprosencephaly
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PubMed Central
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23 August 2017
Epithelial trafficking of Sonic hedgehog by megalin
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PubMed Central
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23 August 2017
Cdo functions at multiple points in the Sonic Hedgehog pathway, and Cdo-deficient mice accurately model human holoprosencephaly
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689134
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23 August 2017
Dose-dependent functions of Fgf8 in regulating telencephalic patterning centers
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PubMed Central
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23 August 2017
Synergistic interaction between Gdf1 and Nodal during anterior axis development
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PubMed Central
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23 August 2017
Patterning and plasticity of the cerebral cortex
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PubMed Central
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23 August 2017
Targeted disruption of Tgif, the mouse ortholog of a human holoprosencephaly gene, does not result in holoprosencephaly in mice
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PubMed Central
reference URL
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23 August 2017
New insights into craniofacial morphogenesis
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PubMed Central
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23 August 2017
LRP2/megalin is required for patterning of the ventral telencephalon
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PubMed Central
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23 August 2017
In vitro analysis of partial loss-of-function ZIC2 mutations in holoprosencephaly: alanine tract expansion modulates DNA binding and transactivation
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PubMed Central
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23 August 2017
Dorsal-ventral patterning and neural induction in Xenopus embryos
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23 August 2017
Gastrula organiser and embryonic patterning in the mouse
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23 August 2017
Hedgehog signaling in the neural crest cells regulates the patterning and growth of facial primordia
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23 August 2017
The mammalian twisted gastrulation gene functions in foregut and craniofacial development
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PubMed Central
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23 August 2017
Early steps in the development of the forebrain
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PubMed Central
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23 August 2017
Inactivation of mouse Twisted gastrulation reveals its role in promoting Bmp4 activity during forebrain development
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23 August 2017
The hedgehog signaling network
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689134
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23 August 2017
Mechanisms of TGF-beta signaling from cell membrane to the nucleus
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23 August 2017
Mouse models of holoprosencephaly
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23 August 2017
Microform holoprosencephaly in mice that lack the Ig superfamily member Cdon.
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23 August 2017
Dosage of Fgf8 determines whether cell survival is positively or negatively regulated in the developing forebrain
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Six3 repression of Wnt signaling in the anterior neuroectoderm is essential for vertebrate forebrain development
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23 August 2017
Inhibition of excess nodal signaling during mouse gastrulation by the transcriptional corepressor DRAP1
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23 August 2017
Parsing the prosencephalon
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23 August 2017
Chordin and noggin promote organizing centers of forebrain development in the mouse
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23 August 2017
Multiple hits during early embryonic development: digenic diseases and holoprosencephaly
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Hedgehog-mediated patterning of the mammalian embryo requires transporter-like function of dispatched
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23 August 2017
Teratogenesis of holoprosencephaly
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23 August 2017
Mechanisms of cerebral cortical patterning in mice and humans
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Early eye development in vertebrates
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Smoothened mutants reveal redundant roles for Shh and Ihh signaling including regulation of L/R symmetry by the mouse node
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23 August 2017
FoxH1 (Fast) functions to specify the anterior primitive streak in the mouse
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23 August 2017
The transcription factor FoxH1 (FAST) mediates Nodal signaling during anterior-posterior patterning and node formation in the mouse
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23 August 2017
Genetic dissection of nodal function in patterning the mouse embryo
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23 August 2017
Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination
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23 August 2017
Physical and functional interactions between Zic and Gli proteins
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23 August 2017
Induction and dorsoventral patterning of the telencephalon
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23 August 2017
Genetic approaches to understanding brain development: holoprosencephaly as a model
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23 August 2017
Genetics of ventral forebrain development and holoprosencephaly
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23 August 2017
Mouse Gli1 mutants are viable but have defects in SHH signaling in combination with a Gli2 mutation
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23 August 2017
The organizer factors Chordin and Noggin are required for mouse forebrain development
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23 August 2017
Zic2 regulates the kinetics of neurulation
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23 August 2017
Dispatched, a novel sterol-sensing domain protein dedicated to the release of cholesterol-modified hedgehog from signaling cells
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23 August 2017
The role of sonic hedgehog in normal and abnormal craniofacial morphogenesis
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23 August 2017
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Loss of Nkx2.1 homeobox gene function results in a ventral to dorsal molecular respecification within the basal telencephalon: evidence for a transformation of the pallidum into the striatum
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23 August 2017
Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly
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23 August 2017
Cripto is required for correct orientation of the anterior-posterior axis in the mouse embryo
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cyclops encodes a nodal-related factor involved in midline signaling
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The Shh signalling pathway in tooth development: defects in Gli2 and Gli3 mutants
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Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function
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23 August 2017
Defective forebrain development in mice lacking gp330/megalin
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PubMed Central
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23 August 2017
Longitudinal organization of the anterior neural plate and neural tube.
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23 August 2017
Nodal is a novel TGF-beta-like gene expressed in the mouse node during gastrulation
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23 August 2017
HNF-3 beta is essential for node and notochord formation in mouse development
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Megalin functions as an endocytic sonic hedgehog receptor
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Smad2 role in mesoderm formation, left-right patterning and craniofacial development
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Patterning of the embryonic forebrain
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689134
retrieved
26 June 2018
Patterning of the chick forebrain anlage by the prechordal plate.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689134
retrieved
26 June 2018
Inductive interactions direct early regionalization of the mouse forebrain
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689134
retrieved
26 June 2018
A single morphogenetic field gives rise to two retina primordia under the influence of the prechordal plate
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689134
retrieved
26 June 2018
Inhibition of 7-dehydrocholesterol reductase by the teratogen AY9944: a rat model for Smith-Lemli-Opitz syndrome.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689134
retrieved
26 June 2018
Fetal ethanol exposure activates protein kinase A and impairs Shh expression in prechordal mesendoderm cells in the pathogenesis of holoprosencephaly
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689134
retrieved
2 September 2018
Ongoing sonic hedgehog signaling is required for dorsal midline formation in the developing forebrain
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689134
retrieved
2 September 2018
Mutations in the BMP pathway in mice support the existence of two molecular classes of holoprosencephaly.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689134
retrieved
2 September 2018
Ectopic sonic hedgehog signaling impairs telencephalic dorsal midline development: implication for human holoprosencephaly.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689134
retrieved
2 September 2018
Sequential developmental changes in holoprosencephalic mouse embryos exposed to ethanol during the gastrulation period.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689134
retrieved
2 September 2018
FGF signalling generates ventral telencephalic cells independently of SHH.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689134
retrieved
2 September 2018
A functional screen for sonic hedgehog regulatory elements across a 1 Mb interval identifies long-range ventral forebrain enhancers.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689134
retrieved
2 September 2018
Maternal Xenopus Zic2 negatively regulates Nodal-related gene expression during anteroposterior patterning.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689134
retrieved
2 September 2018
Molecular interactions coordinating the development of the forebrain and face.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689134
retrieved
2 September 2018
Craniofacial anomalies of the cultured mouse embryo induced by inhibition of sonic hedgehog signaling: an animal model of holoprosencephaly
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689134
retrieved
2 September 2018
Zic2 is required for neural crest formation and hindbrain patterning during mouse development.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689134
retrieved
2 September 2018
Semilobar holoprosencephaly with midline 'seam': a topologic and morphogenetic model based upon MRI analysis.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689134
retrieved
2 September 2018
Middle interhemispheric variant of holoprosencephaly: a distinct cliniconeuroradiologic subtype.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689134
retrieved
2 September 2018
Dorsoventral patterning is established in the telencephalon of mutants lacking both Gli3 and Hedgehog signaling.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689134
retrieved
2 September 2018
Coordinate regulation and synergistic actions of BMP4, SHH and FGF8 in the rostral prosencephalon regulate morphogenesis of the telencephalic and optic vesicles
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689134
retrieved
2 September 2018
The middle interhemispheric variant of holoprosencephaly
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689134
retrieved
2 September 2018
Coordinate expression of Fgf8, Otx2, Bmp4, and Shh in the rostral prosencephalon during development of the telencephalic and optic vesicles.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689134
retrieved
2 September 2018
Otx2 and HNF3beta genetically interact in anterior patterning.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689134
retrieved
2 September 2018
Absence of ventral cell populations in the developing brain in a rat model of the Smith-Lemli-Opitz syndrome.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689134
retrieved
2 September 2018
The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689134
retrieved
2 September 2018
Head induction in the chick by primitive endoderm of mammalian, but not avian origin.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689134
retrieved
2 September 2018
Molecular characterization of breakpoints in patients with holoprosencephaly and definition of the HPE2 critical region 2p21.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689134
retrieved
2 September 2018
Six3, a murine homologue of the sine oculis gene, demarcates the most anterior border of the developing neural plate and is expressed during eye development.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689134
retrieved
2 September 2018
Mouse Otx2 functions in the formation and patterning of rostral head.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689134
retrieved
2 September 2018
Non-cell-autonomous role for Cripto in axial midline formation during vertebrate embryogenesis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2689134
retrieved
3 December 2018
SIX3 mutations with holoprosencephaly
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/19487816
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
The EGF-CFC protein one-eyed pinhead is essential for nodal signaling
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/19487816
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1172/JCI38937
1 reference
stated in
Europe PubMed Central
PMCID
2689134
retrieved
20 August 2017
PMCID
2689134
1 reference
stated in
Europe PubMed Central
PMCID
2689134
retrieved
20 August 2017
PubMed ID
19487816
1 reference
stated in
Europe PubMed Central
PMCID
2689134
retrieved
20 August 2017
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