Longitudinal hormonal and pituitary imaging changes in two females with combined pituitary hormone deficiency due to deletion of A301,G302 in the PROP1 gene
about
A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interactionPseudotumor of the pituitary due to PROP-1 deletionCombined pituitary hormone deficiency (CPHD) due to a complete PROP1 deletion.Hypopituitarism oddities: congenital causes.Genetic regulation of pituitary gland development in human and mouseAged PROP1 deficient dwarf mice maintain ACTH production.A unique case of combined pituitary hormone deficiency caused by a PROP1 gene mutation (R120C) associated with normal height and absent puberty.Novel insights into the aetiology and pathogenesis of hypopituitarism.Gradual loss of ACTH due to a novel mutation in LHX4: comprehensive mutation screening in Japanese patients with congenital hypopituitarismGenetics of isolated growth hormone deficiency.PROP1 and CTNNB1 expression in adamantinomatous craniopharyngiomas with or without β-catenin mutations.Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populationsInherited adrenal hypoplasia: not just for kids!The adrenal.Comparative genomics reveals functional transcriptional control sequences in the Prop1 gene.Growth hormone deficiency and combined pituitary hormone deficiency: does the genotype matter?A comprehensive review of genetics and genetic testing in azoospermia.PROP1 overexpression in corticotrophinomas: evidence for the role of PROP1 in the maintenance of cells committed to corticotrophic differentiation.The role of homeodomain transcription factors in heritable pituitary disease.Combined pituitary hormone deficiency due to gross deletions in the POU1F1 (PIT-1) and PROP1 genes.GH deficiency might be associated with normal height in PROP1 deficiency.The de novo Q167K mutation in the POU1F1 gene leads to combined pituitary hormone deficiency in an Italian patient.Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD).Case seminar: a young female with acute hyponatremia and a sellar mass.Endocrine phenotype of 6q16.1-q21 deletion involving SIM1 and Prader-Willi syndrome-like features.A novel PROP1 gene mutation (157delA) in Japanese siblings with combined anterior pituitary hormone deficiency.
P2860
Q24681401-40CB345D-7CF6-41C3-BBAC-202BEB5D6495Q28217112-3FA1D029-BC1D-4715-97B0-19D497513963Q31055358-E123EB86-2C64-41E7-BF69-2D2BDAB07B5BQ31141847-BD267B41-8670-4B89-A16F-F70A92369DC9Q33590141-6EC7E71B-9F6A-48A1-8EB2-2349BC3F8032Q34092471-4A82845E-880A-4099-A54C-646CDC25F889Q34099955-5FBF28F5-3BF7-4E6A-9DBF-368258BC3199Q34367104-35789012-A117-49DE-AF60-F7ACF982706FQ34430600-96BAA06B-DDEE-416D-ADD5-9AEE3C43CFE9Q34460108-703CD441-6278-4EA9-9263-D2A548C40004Q35473135-0EC85501-C710-4480-AB11-E5127B0DEE13Q35659075-89147066-A0D5-4C2E-A2E1-28489EBCD382Q35754297-4BB2EC29-A3E1-4CB5-A127-5D92FC25B74AQ35946579-07FC6497-F577-4A3F-A6AE-42A2433A6226Q36021378-5DFAA4DB-5984-427B-B2FA-0456ADAECA9CQ36214845-2AABD7B3-5813-4F4B-A1D6-C301C38D903EQ36641203-91C74D02-8BA1-491A-AAF7-8F499FF92551Q36906964-11E46EFA-9377-492D-A200-14FD68E87613Q37905532-D5F4A939-8448-4756-B1F4-D31972F770E0Q38868271-3910577E-E911-4CD4-BBA7-D2A5A1EB826BQ47180530-50665420-DC41-42B3-B12B-BECAC2D76AEDQ47707976-D62209EB-ADD3-4059-9438-BC629D7C6C9AQ48849523-C875E204-2BC2-42D6-A0A8-AF88590B9A08Q48935688-0B327E4F-EC30-442B-BF07-B6C7254DDA2EQ53090084-851A9D10-5A07-4F54-AD44-705E3D39EA0BQ54694823-A01F49D7-7788-43C9-A68A-EF165480891A
P2860
Longitudinal hormonal and pituitary imaging changes in two females with combined pituitary hormone deficiency due to deletion of A301,G302 in the PROP1 gene
description
1999 nî lūn-bûn
@nan
1999 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի մարտին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Longitudinal hormonal and pitu ...... of A301,G302 in the PROP1 gene
@ast
Longitudinal hormonal and pitu ...... of A301,G302 in the PROP1 gene
@en
Longitudinal hormonal and pitu ...... of A301,G302 in the PROP1 gene
@nl
type
label
Longitudinal hormonal and pitu ...... of A301,G302 in the PROP1 gene
@ast
Longitudinal hormonal and pitu ...... of A301,G302 in the PROP1 gene
@en
Longitudinal hormonal and pitu ...... of A301,G302 in the PROP1 gene
@nl
prefLabel
Longitudinal hormonal and pitu ...... of A301,G302 in the PROP1 gene
@ast
Longitudinal hormonal and pitu ...... of A301,G302 in the PROP1 gene
@en
Longitudinal hormonal and pitu ...... of A301,G302 in the PROP1 gene
@nl
P2093
P356
P1476
Longitudinal hormonal and pitu ...... of A301,G302 in the PROP1 gene
@en
P2093
A C Latronico
B B Mendonca
I J Arnhold
M G Osorio
P356
10.1210/JC.84.3.942
P407
P577
1999-03-01T00:00:00Z