A Hypomorphic Allele in the FGF8 Gene Contributes to Holoprosencephaly and Is Allelic to Gonadotropin-Releasing Hormone Deficiency in Humans
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Novel FGF8 mutations associated with recessive holoprosencephaly, craniofacial defects, and hypothalamo-pituitary dysfunctionHoloprosencephaly: signaling interactions between the brain and the face, the environment and the genes, and the phenotypic variability in animal models and humansISL1 directly regulates FGF10 transcription during human cardiac outflow formation.Lhx2 regulates the development of the forebrain hem system.Holoprosencephaly and craniosynostosis: A report of two siblings and review of the literatureHoloprosencephaly: recommendations for diagnosis and managementMorphological changes of gonadotropin-releasing hormone neurons in the rat preoptic area across pubertyThe Fibroblast Growth Factor signaling pathwayMinimal evidence for a direct involvement of twisted gastrulation homolog 1 (TWSG1) gene in human holoprosencephaly.Role of fibroblast growth factor (FGF) signaling in the neuroendocrine control of human reproduction.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 interactionsNOTCH, a new signaling pathway implicated in holoprosencephaly.Genetic Overlap between Holoprosencephaly and Kallmann Syndrome.High Intellectual Function in Individuals with Mutation-Positive Microform HoloprosencephalyNODAL and SHH dose-dependent double inhibition promotes an HPE-like phenotype in chick embryos.Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome.The best-laid plans go oft awry: synaptogenic growth factor signaling in neuropsychiatric disease.Molecular analysis of holoprosencephaly in South America.Heterozygous FGF8 mutations in patients presenting cryptorchidism and multiple VATER/VACTERL features without limb anomalies.Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway.Holoprosencephaly and ZIC2 microdeletions: novel clinical and epidemiological specificities delineated.Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing.A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum.Three new cases of terminal deletion of the long arm of chromosome 7 and literature review to correlate genotype and phenotype manifestations.
P2860
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P2860
A Hypomorphic Allele in the FGF8 Gene Contributes to Holoprosencephaly and Is Allelic to Gonadotropin-Releasing Hormone Deficiency in Humans
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2010 nî lūn-bûn
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2010 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2010年の論文
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2010年論文
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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
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name
A Hypomorphic Allele in the FG ...... g Hormone Deficiency in Humans
@ast
A Hypomorphic Allele in the FG ...... g Hormone Deficiency in Humans
@en
A Hypomorphic Allele in the FG ...... g Hormone Deficiency in Humans
@nl
type
label
A Hypomorphic Allele in the FG ...... g Hormone Deficiency in Humans
@ast
A Hypomorphic Allele in the FG ...... g Hormone Deficiency in Humans
@en
A Hypomorphic Allele in the FG ...... g Hormone Deficiency in Humans
@nl
prefLabel
A Hypomorphic Allele in the FG ...... g Hormone Deficiency in Humans
@ast
A Hypomorphic Allele in the FG ...... g Hormone Deficiency in Humans
@en
A Hypomorphic Allele in the FG ...... g Hormone Deficiency in Humans
@nl
P2093
P2860
P356
P1476
A Hypomorphic Allele in the FG ...... g Hormone Deficiency in Humans
@en
P2093
A L Gropman
B D Solomon
D E Pineda-Alvarez
E Roessler
J A Parsons
P2860
P356
10.1159/000302285
P50
P577
2010-04-22T00:00:00Z