Analysis of ProP1 Gene in a Cohort of Tunisian Patients with Congenital Combined Pituitary Hormone Deficiency
M Moalla, M Mnif-Feki, W Safi, N Charfi… - Journal of Clinical …, 2022 - mdpi.com
Background: Non-syndromic combined pituitary hormone deficiency (CPHD) occurs due to
defects in transcription factors that govern early pituitary development and the specification …
defects in transcription factors that govern early pituitary development and the specification …
Molecular analysis of novel PROP1 mutations associated with combined pituitary hormone deficiency (CPHD)
D Kelberman, JPG Turton, KS Woods… - Clinical …, 2009 - Wiley Online Library
Objective Homozygous mutations in the gene encoding the pituitary transcription factor
PROP1 are associated with combined pituitary hormone deficiency (CPHD) in both mice …
PROP1 are associated with combined pituitary hormone deficiency (CPHD) in both mice …
Association of Homozygous PROP1 Mutation in a Saudi Family with Combined Pituitary Hormone Deficiency
AM Almatrafi, AM Hibshi, S Basit - Medicina, 2023 - mdpi.com
Background and Objectives: Combined pituitary hormone deficiency (CPHD) is a rare
heterogeneous disease. It is characterized by the deficiency of growth hormone (GH) and …
heterogeneous disease. It is characterized by the deficiency of growth hormone (GH) and …
PROP1 gene analysis in Portuguese patients with combined pituitary hormone deficiency
MC Lemos, L Gomes, M Bastos, V Leite… - Clinical …, 2006 - Wiley Online Library
Objective Mutations of the PROP1 gene lead to combined pituitary hormone deficiency
(CPHD), which is characterized by a deficiency of GH, TSH, LH/FSH, PRL and, less …
(CPHD), which is characterized by a deficiency of GH, TSH, LH/FSH, PRL and, less …
[PDF][PDF] Mutations within the transcription factor PROP1 in a cohort of Turkish patients with combined pituitary hormone deficiency
Objective: Mutations of the genes encoding transcription factors which play important roles
in pituitary morphogenesis, differentiation and maturation may lead to combined pituitary …
in pituitary morphogenesis, differentiation and maturation may lead to combined pituitary …
Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD)
JPG Turton, A Mehta, J Raza, KS Woods… - Clinical …, 2005 - Wiley Online Library
Objective Mutations within the pituitary‐specific paired‐like homeobox gene PROP1 have
been described in 50–100% of patients with familial combined pituitary hormone deficiency …
been described in 50–100% of patients with familial combined pituitary hormone deficiency …
Combined pituitary hormone deficiency (CPHD) due to a complete PROP1 deletion
MG Abrão, MV Leite, LR Carvalho… - Clinical …, 2006 - Wiley Online Library
Objective PROP1 mutations are the most common cause of genetic combined pituitary
hormone deficiency (CPHD). The aim of this study was to investigate the PROP1 gene in two …
hormone deficiency (CPHD). The aim of this study was to investigate the PROP1 gene in two …
The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency
JD Cogan, W Wu, JA Phillips III… - The Journal of …, 1998 - academic.oup.com
Combined pituitary hormone deficiency (CPHD) has an incidence of approximately 1 in
8000 births. Although the proportion of familial CPHD cases is unknown, about 10% have an …
8000 births. Although the proportion of familial CPHD cases is unknown, about 10% have an …
Comparison of clinical characteristics of a pediatric cohort with combined pituitary hormone deficiency caused by mutation of the PROP1 gene or of other origins
A Zygmunt-Górska, M Wójcik, A Starmach… - Hormones, 2024 - Springer
The most commonly identified genetic cause of combined pituitary hormone deficiency
(CPHD) is PROP1 gene mutations. The aim of the study was to compare selected clinical …
(CPHD) is PROP1 gene mutations. The aim of the study was to compare selected clinical …
A mutational hot spot in the Prop-1 gene in Russian children with combined pituitary hormone deficiency
OV Fofanova, N Takamura, E Kinoshita, JS Parks… - Pituitary, 1998 - Springer
Combined pituitary hormone deficiency (CPHD), including growth hormone (GH), prolactin
(Prl) and thyroid-stimulating hormone (TSH) in children is now considered a heterogeneous …
(Prl) and thyroid-stimulating hormone (TSH) in children is now considered a heterogeneous …
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