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 …
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 …
“Hot spot” in the PROP1 gene responsible for combined pituitary hormone deficiency
J Deladoëy, C Flück… - The Journal of …, 1999 - academic.oup.com
As pituitary function depends on the integrity of the hypothalamic-pituitary axis, any defect in
the development and organogenesis of this gland may account for a form of combined …
the development and organogenesis of this gland may account for a form of combined …
PROP1 Gene Screening in Patients with Multiple Pituitary Hormone Deficiency Reveals Two Sites of Hypermutability and a High Incidence of Corticotroph Deficiency
S Vallette-Kasic, A Barlier, C Teinturier… - The Journal of …, 2001 - academic.oup.com
Alterations of the gene encoding the pituitary transcription factor PROP1 were associated
with congenital forms of multiple pituitary hormone deficiencies in several families. Among …
with congenital forms of multiple pituitary hormone deficiencies in several families. Among …
Phenotypic variability in familial combined pituitary hormone deficiency caused by a PROP1 gene mutation resulting in the substitution of Arg→ Cys at codon 120 …
C Flück, J Deladoey, K Rutishauser… - The Journal of …, 1998 - academic.oup.com
As pituitary function depends on the integrity of the hypothalamic-pituitary axis, any defect in
the development and organogenesis of this gland may account for a form of combined …
the development and organogenesis of this gland may account for a form of combined …
Adrenocorticotropin deficiency in combined pituitary hormone deficiency patients homozygous for a novel PROP1 deletion
G Agarwal, V Bhatia, S Cook… - The Journal of Clinical …, 2000 - academic.oup.com
Incomplete differentiation of the anterior pituitary (AP) hormone-secreting cells can result in
combined pituitary hormone deficiency (CPHD), in which patients display deficiencies in GH …
combined pituitary hormone deficiency (CPHD), in which patients display deficiencies in GH …
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 …
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 …
Compound Heterozygous Deletion of the PROP-1 Gene in Children with Combined Pituitary Hormone Deficiency
Q Fofanova, N Takamura, E Kinoshita… - The Journal of …, 1998 - academic.oup.com
Mutations in the prophet of Pit-1 gene (PROP1) have been shown to be responsible for
combined pituitary hormone deficiency (CPHD) with deficiencies of growth hormone (GH) …
combined pituitary hormone deficiency (CPHD) with deficiencies of growth hormone (GH) …
Longitudinal hormonal and pituitary imaging changes in two females with combined pituitary hormone deficiency due to deletion of A301, G302 in the PROP1 gene
BB Mendonca, MGF Osorio… - The Journal of …, 1999 - academic.oup.com
Genomic DNA from 18 patients with combined pituitary hormone deficiency was screened
for 2-bp deletion (A301, G302) in PROP1 gene by Bcg I restriction endonuclease analysis of …
for 2-bp deletion (A301, G302) in PROP1 gene by Bcg I restriction endonuclease analysis of …
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