Auxological and endocrine phenotype in a population-based cohort of patients with PROP1 gene defects
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11120%2F05%3A00009546" target="_blank" >RIV/00216208:11120/05:00009546 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11110/05:00009428 RIV/00064165:_____/05:00001198 RIV/00843989:_____/05:00100060
Result on the web
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DOI - Digital Object Identifier
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Alternative languages
Result language
angličtina
Original language name
Auxological and endocrine phenotype in a population-based cohort of patients with PROP1 gene defects
Original language description
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 theirdistribution 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
Czech name
Auxologický a růstový fenotyp u kohorty českých pacientů s PROP1 genovým defektem
Czech 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.
Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FG - Paediatrics
OECD FORD branch
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Result continuities
Project
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Continuities
Z - Vyzkumny zamer (s odkazem do CEZ)
Others
Publication year
2005
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
European Journal of Endocrinology
ISSN
0804-4643
e-ISSN
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Volume of the periodical
153
Issue of the periodical within the volume
3
Country of publishing house
GB - UNITED KINGDOM
Number of pages
8
Pages from-to
389-396
UT code for WoS article
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EID of the result in the Scopus database
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