Novel FGF8 mutations associated with recessive holoprosencephaly, craniofacial defects, and hypothalamo-pituitary dysfunction
about
Recent advances in central congenital hypothyroidismMolecular mechanisms of fibroblast growth factor signaling in physiology and pathologyISL1 directly regulates FGF10 transcription during human cardiac outflow formation.Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes.Pituitary gland development and disease: from stem cell to hormone productionThe Fibroblast Growth Factor signaling pathwayFGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficienciesGenetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia.Persistent expression of activated notch in the developing hypothalamus affects survival of pituitary progenitors and alters pituitary structure.Genetic Overlap between Holoprosencephaly and Kallmann Syndrome.Fibroblast growth factor 8 regulates postnatal development of paraventricular nucleus neuroendocrine cells.Novel application of luciferase assay for the in vitro functional assessment of KAL1 variants in three females with septo-optic dysplasia (SOD).Responsiveness to a physiological regimen of GnRH therapy and relation to genotype in women with isolated hypogonadotropic hypogonadism.Variations in PROKR2, but not PROK2, are associated with hypopituitarism and septo-optic dysplasia.Ontogenesis of gonadotropin-releasing hormone neurons: a model for hypothalamic neuroendocrine cell development.Implication of fibroblast growth factors in epileptogenesis-associated circuit rearrangements.Digenic inheritance in medical geneticsDominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome.Astroglial-Mediated Remodeling of the Interhemispheric Midline Is Required for the Formation of the Corpus CallosumGenetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.The role of the sonic hedgehog signalling pathway in patients with midline defects and congenital hypopituitarism.Heterozygous FGF8 mutations in patients presenting cryptorchidism and multiple VATER/VACTERL features without limb anomalies.Six3 dosage mediates the pathogenesis of holoprosencephaly.The origins of the circumventricular organs.Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway.Midbrain-hindbrain involvement in septo-optic dysplasia.A heterozygous microdeletion of 20p12.2-3 encompassing PROKR2 and BMP2 in a patient with congenital hypopituitarism and growth hormone deficiency.Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing.
P2860
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P2860
Novel FGF8 mutations associated with recessive holoprosencephaly, craniofacial defects, and hypothalamo-pituitary dysfunction
description
2011 nî lūn-bûn
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2011 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի հոտեմբերին հրատարակված գիտական հոդված
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2011年の論文
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2011年学术文章
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2011年学术文章
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2011年学术文章
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2011年学术文章
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2011年学术文章
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2011年學術文章
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Novel FGF8 mutations associate ...... othalamo-pituitary dysfunction
@ast
Novel FGF8 mutations associate ...... othalamo-pituitary dysfunction
@en
Novel FGF8 mutations associate ...... othalamo-pituitary dysfunction
@nl
type
label
Novel FGF8 mutations associate ...... othalamo-pituitary dysfunction
@ast
Novel FGF8 mutations associate ...... othalamo-pituitary dysfunction
@en
Novel FGF8 mutations associate ...... othalamo-pituitary dysfunction
@nl
prefLabel
Novel FGF8 mutations associate ...... othalamo-pituitary dysfunction
@ast
Novel FGF8 mutations associate ...... othalamo-pituitary dysfunction
@en
Novel FGF8 mutations associate ...... othalamo-pituitary dysfunction
@nl
P2093
P2860
P50
P356
P1476
Novel FGF8 mutations associate ...... othalamo-pituitary dysfunction
@en
P2093
Carles Gaston-Massuet
Dianne Gerrelli
Jamal Raza
Joanna Walker
Kyriaki S Alatzoglou
Louise C Gregory
Mark J McCabe
Massimo Signore
Mehul T Dattani
Scott I Kavanaugh
P2860
P304
P356
10.1210/JC.2011-0454
P407
P577
2011-08-10T00:00:00Z