(Q34139361)

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A Hypomorphic Allele in the FGF8 Gene Contributes to Holoprosencephaly and Is Allelic to Gonadotropin-Releasing Hormone Deficiency in Humans

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scholarly article

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21045958%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

A Hypomorphic Allele in the FGF8 Gene Contributes to Holoprosencephaly and Is Allelic to Gonadotropin-Releasing Hormone Deficiency in Humans (English)

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21045958%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

holoprosencephaly

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based on heuristic

inferred from title

1

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15 January 2020

author name string

B D Solomon

2

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15 January 2020

D E Pineda-Alvarez

3

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15 January 2020

A L Gropman

4

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15 January 2020

J A Parsons

5

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15 January 2020

E Roessler

6

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15 January 2020

M Muenke

7

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15 January 2020

publication date

22 April 2010

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15 January 2020

Molecular syndromology

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15 January 2020

1

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15 January 2020

2

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15 January 2020

59-66

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15 January 2020

Analysis of genotype-phenotype correlations in human holoprosencephaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941840

5 July 2018

The molecular genetics of holoprosencephaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941840

5 July 2018

The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941840

5 July 2018

Molecular pathology of the fibroblast growth factor family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941840

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941840

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941840

5 July 2018

FGF signaling is strictly required to maintain early telencephalic precursor cell survival

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941840

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941840

5 July 2018

Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941840

5 July 2018

Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941840

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941840

5 July 2018

The morphogen signaling network in forebrain development and holoprosencephaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941840

5 July 2018

Impaired FGF signaling contributes to cleft lip and palate

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941840

5 July 2018

Holoprosencephaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941840

5 July 2018

Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941840

5 July 2018

Holoprosencephaly: clinical, anatomic, and molecular dimensions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941840

5 July 2018

Dose-dependent functions of Fgf8 in regulating telencephalic patterning centers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941840

5 July 2018

Mechanisms of ventral patterning in the vertebrate nervous system

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941840

5 July 2018

Structural basis by which alternative splicing modulates the organizer activity of FGF8 in the brain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941840

5 July 2018

Multicolour FISH and quantitative PCR can detect submicroscopic deletions in holoprosencephaly patients with a normal karyotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941840

5 July 2018

Molecular regionalization of the neocortex is disrupted in Fgf8 hypomorphic mutants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941840

5 July 2018

Multiple hits during early embryonic development: digenic diseases and holoprosencephaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941840

5 July 2018

Genetics of ventral forebrain development and holoprosencephaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941840

5 July 2018

Hippocampus development and generation of dentate gyrus granule cells is regulated by LEF1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941840

5 July 2018

Differences in left-right axis pathways in mouse and chick: functions of FGF8 and SHH

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941840

5 July 2018

Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941840

5 July 2018

Comparison of the expression of three highly related genes, Fgf8, Fgf17 and Fgf18, in the mouse embryo

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941840

5 July 2018

The hem of the embryonic cerebral cortex is defined by the expression of multiple Wnt genes and is compromised in Gli3-deficient mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941840

5 July 2018

Regionalization of the prosencephalic neural plate.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941840

5 July 2018

An Fgf8 mutant allelic series generated by Cre- and Flp-mediated recombination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941840

5 July 2018

Genomic structure, sequence, and mapping of human FGF8 with no evidence for its role in craniosynostosis/limb defect syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941840

5 July 2018

Molecular models for vertebrate limb development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941840

5 July 2018

Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941840

5 July 2018

The human FGF-8 gene localizes on chromosome 10q24 and is subjected to induction by androgen in breast cancer cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941840

5 July 2018

Structure and sequence of human FGF8

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941840

5 July 2018

Assignment of FGF8 to human chromosome 10q25-q26: mutations in FGF8 may be responsible for some types of acrocephalosyndactyly linked to this region

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941840

5 July 2018

Longitudinal organization of the anterior neural plate and neural tube.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941840

5 July 2018

Involvement of androgen-induced growth factor (FGF-8) gene in mouse embryogenesis and morphogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941840

5 July 2018

The mouse Fgf8 gene encodes a family of polypeptides and is expressed in regions that direct outgrowth and patterning in the developing embryo

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941840

5 July 2018

Expression cloning, developmental expression and chromosomal localization of fibroblast growth factor-8.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941840

5 July 2018

Winged helix transcription factor BF-1 is essential for the development of the cerebral hemispheres

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941840

5 July 2018

Cis-regulation and chromosomal rearrangement of the fgf8 locus after the teleost/tetrapod split.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941840

28 October 2018

Fgf8 morphogen gradient forms by a source-sink mechanism with freely diffusing molecules.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941840

28 October 2018

A novel SIX3 mutation segregates with holoprosencephaly in a large family.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941840

28 October 2018

Fgf signalling through MAPK cascade is required for development of the subpallial telencephalon in zebrafish embryos.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941840

28 October 2018

Identifiers

10.1159/000302285

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Europe PubMed Central

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15 January 2020

PMC publication ID

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15 January 2020

PubMed publication ID

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Europe PubMed Central

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15 January 2020

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