Mutations in the Pit-1 gene in children with combined pituitary hormone deficiency
about
Functional characterization of a human POU1F1 mutation associated with isolated growth hormone deficiency: a novel etiology for IGHDMagnetic resonance imaging of the hypothalamus-pituitary unit in childrensuspected of hypopituitarism: who, how and when toinvestigate.Genetic regulation of pituitary gland development in human and mouseGenetic aspects of central hypothyroidism.The molecular basis for developmental disorders of the pituitary gland in man.Aged PROP1 deficient dwarf mice maintain ACTH production.Missense mutations of human homeoboxes: A review.Cocaine-and Amphetamine Regulated Transcript (CART) Peptide Is Expressed in Precursor Cells and Somatotropes of the Mouse Pituitary GlandSubnuclear compartmentalization of sequence-specific transcription factors and regulation of eukaryotic gene expression.The role of transcription factors implicated in anterior pituitary development in the aetiology of congenital hypopituitarism.Vertical transmission of hypopituitarism: critical importance of appropriate interpretation of thyroid function tests and levothyroxine therapy during pregnancy.A circulating, biologically inactive thyrotropin caused by a mutation in the beta subunit gene.The role of homeodomain transcription factors in heritable pituitary disease.Transcription factors in normal and neoplastic pituitary tissues.Multiple pituitary hormone deficiency caused by pit-I mutation and the challenges of management in a developing country.Novel function of the transactivation domain of a pituitary-specific transcription factor, Pit-1.A novel mutation in PIT-1: phenotypic variability in familial combined pituitary hormone deficiencies.The de novo Q167K mutation in the POU1F1 gene leads to combined pituitary hormone deficiency in an Italian patient.Rarity of PIT1 involvement in children from Russia with combined pituitary hormone deficiency.MRI findings and genotype analysis in patients with childhood onset growth hormone deficiency--correlation with severity of hypopituitarism.Congenital adenohypophysis aplasia: clinical features and analysis of the transcriptional factors for embryonic pituitary development.Mutation analysis of POUF-1, PROP-1 and HESX-1 show low frequency of mutations in children with sporadic forms of combined pituitary hormone deficiency and septo-optic dysplasia.Two novel mutations in the POU1F1 gene generate null alleles through different mechanisms leading to combined pituitary hormone deficiency.Molecular analysis of PROP1, PIT1, HESX1, LHX3, and LHX4 shows high frequency of PROP1 mutations in patients with familial forms of combined pituitary hormone deficiency.Bases Genéticas dos Distúrbios de CrescimentoScreening a large pediatric cohort with GH deficiency for mutations in genes regulating pituitary development and GH secretion: Frequencies, phenotypes and growth outcomes
P2860
Q28118827-86F50FD0-7F67-40F1-883D-DE4B7AE080EAQ30947967-6D297F33-899B-4B5C-BFBE-3BE2D7E91918Q33590141-7EA2A241-1895-497F-8374-C7334F691A58Q33912502-3E0E8031-EA1B-4D2D-A5C4-B34CE18F7750Q33942188-5F919E0E-1EE9-40A5-97C9-9617BE8EFD8EQ34092471-FE2D3904-D3C6-4F09-8906-1DF1544C4ED7Q34415477-F9EB72BA-B720-467C-A031-7495D0014A8DQ36148728-DBF451AF-97CB-4A88-A633-11B40899C374Q36226184-69271A3C-64CF-4B2E-8584-DCAF06C3E867Q36793669-D05D3859-2D59-4338-AEFF-491BF344EAB6Q36991102-98964D5D-B24D-416B-B30A-89AAE89C1B1BQ37352572-6213A9E5-6EE4-4A82-A354-159E68F67C91Q37905532-DE7CE675-98C2-479F-A634-B0FA87D33362Q41636025-4CBE7F16-A052-4F5D-8DD3-EC963DA58048Q42134965-7B2C32BE-E385-4063-97A0-5DE849D42EECQ42525289-7DAAF9F6-F801-4F7D-AAA8-1EFA20828611Q43941053-1EB979FA-2A2B-4CCB-A795-D0EA05C20921Q47707976-ACB48C41-2130-475E-9E93-F0303EADD234Q47956819-F20BCC84-CB2F-4206-B1FB-90704CDFE9C4Q48099793-1BCBE14C-0E1D-413C-801D-ADF836E3AF03Q48549891-2B3706EA-39E8-43AB-86FC-B2016E3BEC84Q49115420-FE59076D-28C6-4429-B5A1-267F59598E31Q51850327-CC7AE3D2-62D2-4275-9C75-ADE611FA5591Q51968780-15B2CB69-0165-461E-9DB1-57A9E77FA595Q57632741-231319FD-9FDA-4929-939D-2BACF5078703Q58697169-7F38596D-6238-4154-97AA-919B724A699A
P2860
Mutations in the Pit-1 gene in children with combined pituitary hormone deficiency
description
1992 nî lūn-bûn
@nan
1992 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
name
Mutations in the Pit-1 gene in children with combined pituitary hormone deficiency
@ast
Mutations in the Pit-1 gene in children with combined pituitary hormone deficiency
@en
Mutations in the Pit-1 gene in children with combined pituitary hormone deficiency
@nl
type
label
Mutations in the Pit-1 gene in children with combined pituitary hormone deficiency
@ast
Mutations in the Pit-1 gene in children with combined pituitary hormone deficiency
@en
Mutations in the Pit-1 gene in children with combined pituitary hormone deficiency
@nl
prefLabel
Mutations in the Pit-1 gene in children with combined pituitary hormone deficiency
@ast
Mutations in the Pit-1 gene in children with combined pituitary hormone deficiency
@en
Mutations in the Pit-1 gene in children with combined pituitary hormone deficiency
@nl
P2093
P3181
P1476
Mutations in the Pit-1 gene in children with combined pituitary hormone deficiency
@en
P2093
H Mitsubuchi
S Fujimoto
Y Nobukuni
P3181
P356
10.1016/0006-291X(92)92281-2
P407
P577
1992-12-15T00:00:00Z