Combined pituitary hormone deficiency (CPHD) due to a complete PROP1 deletion.

scientific article

Combined pituitary hormone deficiency (CPHD) due to a complete PROP1 deletion. is …
instance of (P31):
review articleQ7318358
scholarly articleQ13442814

External links are
P356DOI10.1111/J.1365-2265.2006.02592.X
P698PubMed publication ID16918947

P50authorBerenice Bilharinho MendonçaQ42957618
Angela S BarbosaQ45738269
Luciani Renata CarvalhoQ45750114
Mirian Yumie NishiQ45750123
P2093author name stringBillerbeck AE
Arnhold IJ
Martin RM
Abrão MG
Leite MV
P2860cites workMutations in PROP1 cause familial combined pituitary hormone deficiencyQ24308762
Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4.Q24536132
Longitudinal hormonal and pituitary imaging changes in two females with combined pituitary hormone deficiency due to deletion of A301,G302 in the PROP1 geneQ28139138
Adrenocorticotropin deficiency in combined pituitary hormone deficiency patients homozygous for a novel PROP1 deletionQ28141280
"Hot spot" in the PROP1 gene responsible for combined pituitary hormone deficiencyQ28143870
Combined pituitary hormone deficiency caused by a novel mutation of a highly conserved residue (F88S) in the homeodomain of PROP-1Q28143971
Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiencyQ28145571
PROP1 gene screening in patients with multiple pituitary hormone deficiency reveals two sites of hypermutability and a high incidence of corticotroph deficiencyQ28215854
Pseudotumor of the pituitary due to PROP-1 deletionQ28217112
Compound heterozygous deletion of the PROP-1 gene in children with combined pituitary hormone deficiencyQ28276267
The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiencyQ28283073
Clinical and biochemical phenotype of familial anterior hypopituitarism from mutation of the PROP1 geneQ28295261
Phenotypic Variability in Familial Combined Pituitary Hormone Deficiency Caused by a PROP1 Gene Mutation Resulting in the Substitution of Arg->Cys at Codon 120 (R120C)Q29398239
Alu repeats and human genomic diversityQ29618341
MR imaging of the pituitary stalk: size, shape, and enhancement patternQ31022720
Pituitary development: regulatory codes in mammalian organogenesisQ34120136
Impaired adrenocorticotropin-adrenal axis in combined pituitary hormone deficiency caused by a two-base pair deletion (301-302delAG) in the prophet of Pit-1 geneQ41714031
Central hypocortisolism as part of combined pituitary hormone deficiency due to mutations of PROP-1 geneQ42494231
Longitudinal imaging reveals pituitary enlargement preceding hypoplasia in two brothers with combined pituitary hormone deficiency attributable to PROP1 mutationQ43732452
Familial combined pituitary hormone deficiency due to a novel mutation R99Q in the hot spot region of Prophet of Pit-1 presenting as constitutional growth delayQ44273233
Pituitary lineage determination by the Prophet of Pit-1 homeodomain factor defective in Ames dwarfismQ44505357
Prolonged jaundice and hypothyroidism as the presenting symptoms in a neonate with a novel Prop1 gene mutation (Q83X).Q44793979
PROP1 mutations cause progressive deterioration of anterior pituitary function including adrenal insufficiency: a longitudinal analysisQ45096678
Absent or delayed adrenarche in Pit-1/POU1F1 deficiencyQ46740444
Height of normal pituitary gland as a function of age evaluated by magnetic resonance imaging in childrenQ47436393
Pituitary magnetic resonance imaging in 15 patients with Prop1 gene mutations: pituitary enlargement may originate from the intermediate lobeQ47651090
Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD).Q48849523
Auxological and endocrine phenotype in a population-based cohort of patients with PROP1 gene defects.Q54646297
A novel PROP1 gene mutation (157delA) in Japanese siblings with combined anterior pituitary hormone deficiency.Q54694823
Human Prop-1: cloning, mapping, genomic structureQ56535712
P433issue3
P304page(s)294-300
P577publication date2006-09-01
P1433published inClinical EndocrinologyQ15762781
P1476titleCombined pituitary hormone deficiency (CPHD) due to a complete PROP1 deletion
P478volume65

Reverse relations

cites work (P2860)
Q64946519A Large PROP1 Gene Deletion in a Turkish Pedigree.
Q48935688Case seminar: a young female with acute hyponatremia and a sellar mass
Q38868271Combined pituitary hormone deficiency due to gross deletions in the POU1F1 (PIT-1) and PROP1 genes.
Q30848681Combined pituitary hormone deficiency: current and future status
Q64252302Identification of a Novel PROP1 Mutation in a Patient with Combined Pituitary Hormone Deficiency and Enlarged Pituitary
Q41698332Molecular analysis of PROP1, POU1F1, LHX3, and HESX1 in Turkish patients with combined pituitary hormone deficiency: a multicenter study.
Q48362570Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations
Q35473135PROP1 and CTNNB1 expression in adamantinomatous craniopharyngiomas with or without β-catenin mutations.
Q43536332Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly
Q35762302Repetitive sequence environment distinguishes housekeeping genes
Q92621572The evolving role of genetic tests in reproductive medicine
Q36793669The role of transcription factors implicated in anterior pituitary development in the aetiology of congenital hypopituitarism