1 |
High prevalence of PROP1 defects in Lithuania: phenotypic findings in an ethnically homogenous cohort of patients with multiple pituitary hormone deficiency.
24
|
Navardauskaite R...Lebl J
|
24178788 |
2014 |
2 |
Detection of genetic hypopituitarism in an adult population of idiopathic pituitary insufficiency patients with growth hormone deficiency.
24
|
Nystrom HF...Brue T
|
21132537 |
2011 |
3 |
A novel HESX1 splice mutation causes isolated GH deficiency by interfering with mRNA processing.
24
|
Vivenza D...Bona G
|
21325470 |
2011 |
4 |
Pituitary transcription factors in the aetiology of combined pituitary hormone deficiency.
24
|
Pfaffle R...Klammt J
|
21396574 |
2011 |
5 |
Pituitary stalk dysgenesis-induced hypopituitarism in adult patients: prevalence, evolution of hormone dysfunction and genetic analysis.
24
|
Fernandez-Rodriguez E...Bernabeu I
|
21304225 |
2011 |
6 |
Mutation and gene copy number analyses of six pituitary transcription factor genes in 71 patients with combined pituitary hormone deficiency: identification of a single patient with LHX4 deletion.
24
|
Dateki S...Ogata T
|
20534763 |
2010 |
7 |
A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency.
24
|
Ashkenazi-Hoffnung L...Gat-Yablonski G
|
20396904 |
2010 |
8 |
A large deletion of PROP1 gene in patients with combined pituitary hormone deficiency from two unrelated Chinese pedigrees.
24
|
Zhang H...Shi D
|
20395664 |
2010 |
9 |
PROP1, HESX1, POU1F1, LHX3 and LHX4 mutation and deletion screening and GH1 P89L and IVS3+1/+2 mutation screening in a Dutch nationwide cohort of patients with combined pituitary hormone deficiency.
24
|
de Graaff LC...Hokken-Koelega AC
|
20389107 |
2010 |
10 |
Molecular analysis of novel PROP1 mutations associated with combined pituitary hormone deficiency (CPHD).
24
|
Kelberman D...Dattani MT
|
19128366 |
2009 |
11 |
A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency.
24
|
Diaczok D...Radovick S
|
18728160 |
2008 |
12 |
Consensus guidelines for the diagnosis and treatment of adults with GH deficiency II: a statement of the GH Research Society in association with the European Society for Pediatric Endocrinology, Lawson Wilkins Society, European Society of Endocrinology, Japan Endocrine Society, and Endocrine Society of Australia.
24
|
Ho KK...2007 GH Deficiency Consensus Workshop Participants
|
18057375 |
2007 |
13 |
Molecular analysis of PROP1, PIT1, HESX1, LHX3, and LHX4 shows high frequency of PROP1 mutations in patients with familial forms of combined pituitary hormone deficiency.
24
|
Vieira TC...Abucham J
|
18157385 |
2007 |
14 |
Hypothalamic and pituitary development: novel insights into the aetiology.
24
|
Kelberman D...Dattani MT
|
17785694 |
2007 |
15 |
MRI findings and genotype analysis in patients with childhood onset growth hormone deficiency--correlation with severity of hypopituitarism.
24
|
Zimmermann A...Bettendorf M
|
17642419 |
2007 |
16 |
Prediction of adult height in growth-hormone-treated children with growth hormone deficiency.
24
|
de Ridder MA...Hokken-Koelega AC
|
17179199 |
2007 |
17 |
HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism.
24
|
McNay DE...Dattani MT
|
17148560 |
2007 |
18 |
High prevalence of PROP1 gene mutations in Hungarian patients with childhood-onset combined anterior pituitary hormone deficiency.
24
|
Halasz Z...Racz K
|
17526936 |
2006 |
19 |
PROP1 gene analysis in Portuguese patients with combined pituitary hormone deficiency.
24
|
Lemos MC...Carvalheiro M
|
16984240 |
2006 |
20 |
Combined pituitary hormone deficiency (CPHD) due to a complete PROP1 deletion.
24
|
Abrao MG...Mendonca BB
|
16918947 |
2006 |
21 |
Genetic screening of combined pituitary hormone deficiency: experience in 195 patients.
24
|
Reynaud R...Barlier A
|
16735499 |
2006 |
22 |
Congenital combined pituitary hormone deficiency attributable to a novel PROP1 mutation (467insT).
24
|
Nose O...Amino N
|
16759034 |
2006 |
23 |
Auxological and endocrine phenotype in a population-based cohort of patients with PROP1 gene defects.
24
|
Lebl J...Blum WF
|
16131601 |
2005 |
24 |
An uncommon phenotype with familial central hypogonadism caused by a novel PROP1 gene mutant truncated in the transactivation domain.
24
|
Reynaud R...Brue T
|
15941866 |
2005 |
25 |
Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD).
24
|
Turton JP...Dattani MT
|
15963055 |
2005 |
26 |
Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism.
24
|
Woods KS...Dattani MT
|
15800844 |
2005 |
27 |
Mutation analysis of POUF-1, PROP-1 and HESX-1 show low frequency of mutations in children with sporadic forms of combined pituitary hormone deficiency and septo-optic dysplasia.
24
|
Rainbow LA...Kirk JM
|
15670191 |
2005 |
28 |
A novel PROP1 gene mutation (157delA) in Japanese siblings with combined anterior pituitary hormone deficiency.
24
|
Tatsumi KI...Amino N
|
15521968 |
2004 |
29 |
A familial form of congenital hypopituitarism due to a PROP1 mutation in a large kindred: phenotypic and in vitro functional studies.
24
|
Reynaud R...Brue T
|
15531542 |
2004 |
30 |
PROP1 mutations cause progressive deterioration of anterior pituitary function including adrenal insufficiency: a longitudinal analysis.
24
|
Bottner A...Pfaffle RW
|
15472232 |
2004 |
31 |
Array comparative genomic hybridisation analysis of boys with X linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3.
24
|
Solomon NM...Thomas PQ
|
15342697 |
2004 |
32 |
Ovulation induction and successful pregnancy outcome in two patients with Prop1 gene mutations.
24
|
Voutetakis A...Messinis IE
|
15302300 |
2004 |
33 |
Conserved amino acid sequences confer nuclear localization upon the Prophet of Pit-1 pituitary transcription factor protein.
24
|
Guy JC...Rhodes SJ
|
15246537 |
2004 |
34 |
Pituitary magnetic resonance imaging in 15 patients with Prop1 gene mutations: pituitary enlargement may originate from the intermediate lobe.
24
|
Voutetakis A...Dacou-Voutetakis C
|
15126542 |
2004 |
35 |
Prolonged jaundice and hypothyroidism as the presenting symptoms in a neonate with a novel Prop1 gene mutation (Q83X).
24
|
Voutetakis A...Sertedaki A
|
15012608 |
2004 |
36 |
Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features.
24
|
Roessler E...Muenke M
|
14581620 |
2003 |
37 |
Enhanced repression by HESX1 as a cause of hypopituitarism and septooptic dysplasia.
24
|
Cohen RN...Radovick S
|
14557462 |
2003 |
38 |
Two new PROP1 gene mutations responsible for compound pituitary hormone deficiency.
24
|
Paracchini R...Bona G
|
12859410 |
2003 |
39 |
Combined pituitary hormone deficiency in Australian children: clinical and genetic correlates.
24
|
McLennan K...Choong C
|
12780757 |
2003 |
40 |
Clinical characteristics and molecular analysis of PIT1, PROP1,LHX3, and HESX1 in combined pituitary hormone deficiency patients with abnormal pituitary MR imaging.
24
|
Kim SS...Yoo HW
|
14646405 |
2003 |
41 |
Pituitary magnetic resonance imaging and function in patients with growth hormone deficiency with and without mutations in GHRH-R, GH-1, or PROP-1 genes.
24
|
Osorio MG...Arnhold IJ
|
12414875 |
2002 |
42 |
Longitudinal imaging reveals pituitary enlargement preceding hypoplasia in two brothers with combined pituitary hormone deficiency attributable to PROP1 mutation.
24
|
Riepe FG...Sippell WG
|
11549674 |
2001 |
43 |
PROP1 gene screening in patients with multiple pituitary hormone deficiency reveals two sites of hypermutability and a high incidence of corticotroph deficiency.
24
|
Vallette-Kasic S...Brue T
|
11549703 |
2001 |
44 |
Consensus guidelines for the diagnosis and treatment of growth hormone (GH) deficiency in childhood and adolescence: summary statement of the GH Research Society. GH Research Society.
24
|
Growth Hormone Research Society
|
11095419 |
2000 |
45 |
Impaired adrenocorticotropin-adrenal axis in combined pituitary hormone deficiency caused by a two-base pair deletion (301-302delAG) in the prophet of Pit-1 gene.
24
|
Pernasetti F...Mellon PL
|
10634415 |
2000 |
46 |
"Hot spot" in the PROP1 gene responsible for combined pituitary hormone deficiency.
24
|
Deladoey J...Mullis PE
|
10323394 |
1999 |
47 |
Longitudinal hormonal and pituitary imaging changes in two females with combined pituitary hormone deficiency due to deletion of A301,G302 in the PROP1 gene.
24
|
Mendonca BB...Arnhold IJ
|
10084575 |
1999 |
48 |
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).
24
|
Fluck C...Mullis PE
|
9768691 |
1998 |
49 |
Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse.
24
|
Dattani MT...Robinson IC
|
9620767 |
1998 |
50 |
A mutational hot spot in the Prop-1 gene in Russian children with combined pituitary hormone deficiency.
24
|
Fofanova OV...Yamashita S
|
11081182 |
1998 |