| 1 |
High prevalence of PROP1 defects in Lithuania: phenotypic findings in an ethnically homogenous cohort of patients with multiple pituitary hormone deficiency.
4
|
Navardauskaite R...Lebl J
|
24178788
|
2014 |
| 2 |
Detection of genetic hypopituitarism in an adult population of idiopathic pituitary insufficiency patients with growth hormone deficiency.
4
|
Nystrom HF...Brue T
|
21132537
|
2011 |
| 3 |
A novel HESX1 splice mutation causes isolated GH deficiency by interfering with mRNA processing.
4
|
Vivenza D...Bona G
|
21325470
|
2011 |
| 4 |
Pituitary transcription factors in the aetiology of combined pituitary hormone deficiency.
4
|
Pfaffle R...Klammt J
|
21396574
|
2011 |
| 5 |
Pituitary stalk dysgenesis-induced hypopituitarism in adult patients: prevalence, evolution of hormone dysfunction and genetic analysis.
4
|
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.
4
|
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.
4
|
Ashkenazi-Hoffnung L...Gat-Yablonski G
|
20396904
|
2010 |
| 8 |
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.
4
|
de Graaff LC...Hokken-Koelega AC
|
20389107
|
2010 |
| 9 |
A large deletion of PROP1 gene in patients with combined pituitary hormone deficiency from two unrelated Chinese pedigrees.
4
|
Zhang H...Shi D
|
20395664
|
2010 |
| 10 |
Molecular analysis of novel PROP1 mutations associated with combined pituitary hormone deficiency (CPHD).
4
|
Kelberman D...Dattani MT
|
19128366
|
2009 |
| 11 |
A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency.
4
|
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.
4
|
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.
4
|
Vieira TC...Abucham J
|
18157385
|
2007 |
| 14 |
Hypothalamic and pituitary development: novel insights into the aetiology.
4
|
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.
4
|
Zimmermann A...Bettendorf M
|
17642419
|
2007 |
| 16 |
Prediction of adult height in growth-hormone-treated children with growth hormone deficiency.
4
|
de Ridder MA...Hokken-Koelega AC
|
17179199
|
2007 |
| 17 |
HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism.
4
|
McNay DE...Dattani MT
|
17148560
|
2007 |
| 18 |
High prevalence of PROP1 gene mutations in Hungarian patients with childhood-onset combined anterior pituitary hormone deficiency.
4
|
Halasz Z...Racz K
|
17526936
|
2006 |
| 19 |
PROP1 gene analysis in Portuguese patients with combined pituitary hormone deficiency.
4
|
Lemos MC...Carvalheiro M
|
16984240
|
2006 |
| 20 |
Genetic screening of combined pituitary hormone deficiency: experience in 195 patients.
4
|
Reynaud R...Barlier A
|
16735499
|
2006 |
| 21 |
Combined pituitary hormone deficiency (CPHD) due to a complete PROP1 deletion.
4
|
Abrao MG...Mendonca BB
|
16918947
|
2006 |
| 22 |
Congenital combined pituitary hormone deficiency attributable to a novel PROP1 mutation (467insT).
4
|
Nose O...Amino N
|
16759034
|
2006 |
| 23 |
Auxological and endocrine phenotype in a population-based cohort of patients with PROP1 gene defects.
4
|
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.
4
|
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).
4
|
Turton JP...Dattani MT
|
15963055
|
2005 |
| 26 |
Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism.
4
|
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.
4
|
Rainbow LA...Kirk JM
|
15670191
|
2005 |
| 28 |
A novel PROP1 gene mutation (157delA) in Japanese siblings with combined anterior pituitary hormone deficiency.
4
|
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.
4
|
Reynaud R...Brue T
|
15531542
|
2004 |
| 30 |
PROP1 mutations cause progressive deterioration of anterior pituitary function including adrenal insufficiency: a longitudinal analysis.
4
|
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.
4
|
Solomon NM...Thomas PQ
|
15342697
|
2004 |
| 32 |
Ovulation induction and successful pregnancy outcome in two patients with Prop1 gene mutations.
4
|
Voutetakis A...Messinis IE
|
15302300
|
2004 |
| 33 |
Conserved amino acid sequences confer nuclear localization upon the Prophet of Pit-1 pituitary transcription factor protein.
4
|
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.
4
|
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).
4
|
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.
4
|
Roessler E...Muenke M
|
14581620
|
2003 |
| 37 |
Enhanced repression by HESX1 as a cause of hypopituitarism and septooptic dysplasia.
4
|
Cohen RN...Radovick S
|
14557462
|
2003 |
| 38 |
Two new PROP1 gene mutations responsible for compound pituitary hormone deficiency.
4
|
Paracchini R...Bona G
|
12859410
|
2003 |
| 39 |
Combined pituitary hormone deficiency in Australian children: clinical and genetic correlates.
4
|
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.
4
|
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.
4
|
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.
4
|
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.
4
|
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.
4
|
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.
4
|
Pernasetti F...Mellon PL
|
10634415
|
2000 |
| 46 |
"Hot spot" in the PROP1 gene responsible for combined pituitary hormone deficiency.
4
|
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.
4
|
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).
4
|
Fluck C...Mullis PE
|
9768691
|
1998 |
| 49 |
Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse.
4
|
Dattani MT...Robinson IC
|
9620767
|
1998 |
| 50 |
A mutational hot spot in the Prop-1 gene in Russian children with combined pituitary hormone deficiency.
4
|
Fofanova OV...Yamashita S
|
11081182
|
1998 |
