A unique case of combined pituitary hormone deficiency caused by a PROP1 gene mutation (R120C) associated with normal height and absent puberty.
about
Significant quantitative and qualitative transition in pituitary stem / progenitor cells occurs during the postnatal development of the rat anterior pituitaryCombined pituitary hormone deficiency: current and future status.Magnetic resonance imaging of the hypothalamus-pituitary unit in childrensuspected of hypopituitarism: who, how and when toinvestigate.Hypopituitarism oddities: congenital causes.Genetic regulation of pituitary gland development in human and mouseNovel insights into the aetiology and pathogenesis of hypopituitarism.Circulating microRNA profiles and the identification of miR-593 and miR-511 which directly target the PROP1 gene in children with combined pituitary hormone deficiency.Growth hormone deficiency and combined pituitary hormone deficiency: does the genotype matter?The role of transcription factors implicated in anterior pituitary development in the aetiology of congenital hypopituitarism.Clinical manifestations of impaired GnRH neuron development and function.Two coexisting heterozygous frameshift mutations in PROP1 are responsible for a different phenotype of combined pituitary hormone deficiencyIsolated central hypothyroidism in young siblings as a manifestation of PROP1 deficiency: clinical impact of whole exome sequencingExpression studies of neuronatin in prenatal and postnatal rat pituitary.Combined pituitary hormone deficiency due to gross deletions in the POU1F1 (PIT-1) and PROP1 genes.Growth without growth hormone in combined pituitary hormone deficiency caused by pituitary stalk interruption syndrome.Three-dimensional studies of Prop1-expressing cells in the rat pituitary primordium of Rathke's pouch.Pituitary size fluctuation in long-term MR studies of PROP1 deficient patients: A persistent pathophysiological mechanism?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.Detection of genetic hypopituitarism in an adult population of idiopathic pituitary insufficiency patients with growth 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.Analysis of the PROP1 gene in a large cohort of patients with idiopathic hypogonadotropic hypogonadism.A novel PROP1 gene mutation (157delA) in Japanese siblings with combined anterior pituitary hormone deficiency.The Human Obesity Gene Map: The 2004 UpdateGenética molecular do eixo hipotálamo-hipófise-gonadal
P2860
Q28583850-B44F1DF0-0C03-4BE4-B884-2EC007C3C855Q30848681-F4882C14-B791-406C-9175-B135FA920F01Q30947967-2EDD5BC7-0568-48EB-BDB7-81C2BCDECC2EQ31141847-61E72CAF-E5F5-46F6-B68F-0B4676384DA6Q33590141-89E6A676-646A-46F3-B8FB-745DDB50746CQ34367104-AD46CCC8-4ED5-4365-A9B4-5B963EE0D97BQ34936445-BE7109B0-4F26-4148-A2CA-A042A4169A87Q36214845-A81EA756-AE03-4FF1-A99D-28B192C5170AQ36793669-83FC3B32-47A3-44FE-A552-191AA7C3F4C8Q37078042-660A9064-8070-4926-BEFA-B95D62972EA3Q37131895-9BF8B128-2AFA-441F-9A0F-64E7DB11B21CQ37211277-4B45D497-BD73-4247-A379-00B811629B54Q38816164-DF6D2142-7C37-4230-9EF6-BF1A55F36CA1Q38868271-97D7C986-3622-4385-AC18-65FAFF0FA330Q42095909-1BB567A5-0551-4675-980F-FD9204D28F4EQ44914372-9CC2819B-0E36-440D-ABBC-07A02366D68AQ47332580-D7C047BA-087C-4F9E-A4C0-813F4728929FQ48849523-AA4EE109-5125-4829-84D9-C77D2850468CQ48935688-4EF376A6-F275-4FD4-80CA-76D9EE787EAFQ51627755-51FC9D00-F23D-4717-80F7-E0D9A0F83F72Q51968780-59D96C30-4C50-4B3B-8563-2056F71EA2BDQ53646105-DA2EA8B2-7F71-436F-B917-71DA10FDD796Q54694823-A93F148D-FE75-4B0E-8ECF-28CF21DFAC04Q57316399-9E8722DD-35E8-4D03-BECF-72CEAE6CC2A7Q57632723-5B165FD2-1235-40F3-9ED8-22C6D21CC445
P2860
A unique case of combined pituitary hormone deficiency caused by a PROP1 gene mutation (R120C) associated with normal height and absent puberty.
description
2002 nî lūn-bûn
@nan
2002 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
A unique case of combined pitu ...... mal height and absent puberty.
@ast
A unique case of combined pitu ...... mal height and absent puberty.
@en
A unique case of combined pituitary hormone deficiency caused by a PROP1 gene mutation
@nl
type
label
A unique case of combined pitu ...... mal height and absent puberty.
@ast
A unique case of combined pitu ...... mal height and absent puberty.
@en
A unique case of combined pituitary hormone deficiency caused by a PROP1 gene mutation
@nl
prefLabel
A unique case of combined pitu ...... mal height and absent puberty.
@ast
A unique case of combined pitu ...... mal height and absent puberty.
@en
A unique case of combined pituitary hormone deficiency caused by a PROP1 gene mutation
@nl
P2093
P2860
P1476
A unique case of combined pitu ...... mal height and absent puberty.
@en
P2093
Armando Arroyo
Flavia Pernasetti
Pamela L Mellon
Paula Amato
Samuel S C Yen
Vyacheslav V Vasilyev
P2860
P304
P356
10.1046/J.1365-2265.2002.01550.X
P577
2002-08-01T00:00:00Z