About: Auxological and endocrine phenotype in a population-based cohort of patients with PROP1 gene defects     Goto   Sponge   NotDistinct   Permalink

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Description
  • Kombinovaný deficit hormonů hypofýzy (MPHD) může vznikat jako důsledek defektů v transkripčních faktorech, které regulují vývoj hypofýzy. Zaměřili jsme se na zjištění prevalence genových defektů vgenech HESX1, PROP1 a POU1F1 ve skupině českých pacientů sMPHD a na analýzu fenotypu postižených jedinců. (cs)
  • PROP1 gene mutations cause multiple pituitary hormone deficiency (including GH, TSH, prolactin, FSH/LH and ACTH) and changes in pituitary morphology, both hypo- and hyperplasia. Morphological findings among 17 Czech patients with PROP1 mutation and their distribution according to age at first examination support the hypothesis on pituitary hyperplasia within the first years of life, followed by a spontaneous regression. Multiple pituitary hormone deficiency (MPHD) may result from defects of transcription factors that govern early pituitary development. We aimed to establish the prevalence of HESX1, PROP1, and POU1F1 gene defects in a population-based cohort of patients with MPHD and to analyse the phenotype of affected individuals
  • PROP1 gene mutations cause multiple pituitary hormone deficiency (including GH, TSH, prolactin, FSH/LH and ACTH) and changes in pituitary morphology, both hypo- and hyperplasia. Morphological findings among 17 Czech patients with PROP1 mutation and their distribution according to age at first examination support the hypothesis on pituitary hyperplasia within the first years of life, followed by a spontaneous regression. Multiple pituitary hormone deficiency (MPHD) may result from defects of transcription factors that govern early pituitary development. We aimed to establish the prevalence of HESX1, PROP1, and POU1F1 gene defects in a population-based cohort of patients with MPHD and to analyse the phenotype of affected individuals (en)
Title
  • Auxological and endocrine phenotype in a population-based cohort of patients with PROP1 gene defects
  • Auxological and endocrine phenotype in a population-based cohort of patients with PROP1 gene defects (en)
  • Auxologický a růstový fenotyp u kohorty českých pacientů s PROP1 genovým defektem (cs)
skos:prefLabel
  • Auxological and endocrine phenotype in a population-based cohort of patients with PROP1 gene defects
  • Auxological and endocrine phenotype in a population-based cohort of patients with PROP1 gene defects (en)
  • Auxologický a růstový fenotyp u kohorty českých pacientů s PROP1 genovým defektem (cs)
skos:notation
  • RIV/00843989:_____/05:00100060!RIV09-MSM-00843989
http://linked.open...avai/riv/aktivita
http://linked.open...avai/riv/aktivity
  • V, Z(MSM0021620814)
http://linked.open...iv/cisloPeriodika
  • No.3
http://linked.open...vai/riv/dodaniDat
http://linked.open...aciTvurceVysledku
http://linked.open.../riv/druhVysledku
http://linked.open...iv/duvernostUdaju
http://linked.open...titaPredkladatele
http://linked.open...dnocenehoVysledku
  • 513438
http://linked.open...ai/riv/idVysledku
  • RIV/00843989:_____/05:00100060
http://linked.open...riv/jazykVysledku
http://linked.open.../riv/klicovaSlova
  • auxological; endocrine; phenotype; population-based; cohort; patients; PROP1; defects (en)
http://linked.open.../riv/klicoveSlovo
http://linked.open...odStatuVydavatele
  • GB - Spojené království Velké Británie a Severního Irska
http://linked.open...ontrolniKodProRIV
  • [FB4D863D425B]
http://linked.open...i/riv/nazevZdroje
  • European Journal of Endocrinology
http://linked.open...in/vavai/riv/obor
http://linked.open...ichTvurcuVysledku
http://linked.open...cetTvurcuVysledku
http://linked.open...UplatneniVysledku
http://linked.open...v/svazekPeriodika
  • Vol.153
http://linked.open...iv/tvurceVysledku
  • Černá, Jana
  • Lebl, J.
http://linked.open...ain/vavai/riv/wos
  • 000232228400006
http://linked.open...n/vavai/riv/zamer
issn
  • 0804-4643
number of pages
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