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Items: 1 to 20 of 115

1.

High prevalence of PROP1 defects in Lithuania: phenotypic findings in an ethnically homogenous cohort of patients with multiple pituitary hormone deficiency.

Navardauskaite R, Dusatkova P, Obermannova B, Pfaeffle RW, Blum WF, Adukauskiene D, Smetanina N, Cinek O, Verkauskiene R, Lebl J.

J Clin Endocrinol Metab. 2014 Jan;99(1):299-306. doi: 10.1210/jc.2013-3090. Epub 2013 Dec 20.

PMID:
24178788
2.

Auxological and endocrine phenotype in a population-based cohort of patients with PROP1 gene defects.

Lebl J, Vosáhlo J, Pfaeffle RW, Stobbe H, Cerná J, Novotná D, Zapletalová J, Kalvachová B, Hána V, Weiss V, Blum WF.

Eur J Endocrinol. 2005 Sep;153(3):389-96.

3.

[Genetic background of inherited multiple pituitary hormone deficiency. Mutations of PROP1 gene in Hungary].

Halász Z.

Orv Hetil. 2011 Feb 6;152(6):221-32. doi: 10.1556/OH.2011.29032. Hungarian.

PMID:
21278027
4.

PROP1 gene analysis in Portuguese patients with combined pituitary hormone deficiency.

Lemos MC, Gomes L, Bastos M, Leite V, Limbert E, Carvalho D, Bacelar C, Monteiro M, Fonseca F, Agapito A, Castro JJ, Regateiro FJ, Carvalheiro M.

Clin Endocrinol (Oxf). 2006 Oct;65(4):479-85.

PMID:
16984240
5.

Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD).

Turton JP, Mehta A, Raza J, Woods KS, Tiulpakov A, Cassar J, Chong K, Thomas PQ, Eunice M, Ammini AC, Bouloux PM, Starzyk J, Hindmarsh PC, Dattani MT.

Clin Endocrinol (Oxf). 2005 Jul;63(1):10-8.

PMID:
15963055
6.

Mutations and pituitary morphology in a series of 82 patients with PROP1 gene defects.

Obermannova B, Pfaeffle R, Zygmunt-Gorska A, Starzyk J, Verkauskiene R, Smetanina N, Bezlepkina O, Peterkova V, Frisch H, Cinek O, Child CJ, Blum WF, Lebl J.

Horm Res Paediatr. 2011;76(5):348-54. doi: 10.1159/000332693. Epub 2011 Oct 18.

PMID:
22024773
7.

PROP1 gene screening in patients with multiple pituitary hormone deficiency reveals two sites of hypermutability and a high incidence of corticotroph deficiency.

Vallette-Kasic S, Barlier A, Teinturier C, Diaz A, Manavela M, Berthezène F, Bouchard P, Chaussain JL, Brauner R, Pellegrini-Bouiller I, Jaquet P, Enjalbert A, Brue T.

J Clin Endocrinol Metab. 2001 Sep;86(9):4529-35.

PMID:
11549703
8.

Molecular analysis of novel PROP1 mutations associated with combined pituitary hormone deficiency (CPHD).

Kelberman D, Turton JP, Woods KS, Mehta A, Al-Khawari M, Greening J, Swift PG, Otonkoski T, Rhodes SJ, Dattani MT.

Clin Endocrinol (Oxf). 2009 Jan;70(1):96-103. doi: 10.1111/j.1365-2265.2008.03326.x. Epub 2008 Jun 25.

PMID:
19128366
9.

Mutations in PROP1 cause familial combined pituitary hormone deficiency.

Wu W, Cogan JD, Pfäffle RW, Dasen JS, Frisch H, O'Connell SM, Flynn SE, Brown MR, Mullis PE, Parks JS, Phillips JA 3rd, Rosenfeld MG.

Nat Genet. 1998 Feb;18(2):147-9.

PMID:
9462743
10.

High prevalence of PROP1 gene mutations in Hungarian patients with childhood-onset combined anterior pituitary hormone deficiency.

Halász Z, Toke J, Patócs A, Bertalan R, Tömböl Z, Sallai A, Hosszú E, Muzsnai A, Kovács L, Sólyom J, Fekete G, Rácz K.

Endocrine. 2006 Dec;30(3):255-60.

PMID:
17526936
11.

Adrenocorticotropin deficiency in combined pituitary hormone deficiency patients homozygous for a novel PROP1 deletion.

Agarwal G, Bhatia V, Cook S, Thomas PQ.

J Clin Endocrinol Metab. 2000 Dec;85(12):4556-61.

PMID:
11134108
12.

The c.301_302delAG PROP1 gene mutation in Romanian patients with multiple pituitary hormone deficiency.

Lazea C, Grigorescu-Sido P, Popp R, Legendre M, Amselem S, Al-Khzouz C, Bucerzan S, Creţ V, Crişan M, Brad C.

J Pediatr Endocrinol Metab. 2015 Sep;28(9-10):993-8. doi: 10.1515/jpem-2014-0289.

PMID:
25581745
13.

Longitudinal imaging reveals pituitary enlargement preceding hypoplasia in two brothers with combined pituitary hormone deficiency attributable to PROP1 mutation.

Riepe FG, Partsch CJ, Blankenstein O, Mönig H, Pfäffle RW, Sippell WG.

J Clin Endocrinol Metab. 2001 Sep;86(9):4353-7.

PMID:
11549674
14.

Longitudinal hormonal and pituitary imaging changes in two females with combined pituitary hormone deficiency due to deletion of A301,G302 in the PROP1 gene.

Mendonca BB, Osorio MG, Latronico AC, Estefan V, Lo LS, Arnhold IJ.

J Clin Endocrinol Metab. 1999 Mar;84(3):942-5.

PMID:
10084575
15.

Functional characterization of a heterozygous GLI2 missense mutation in patients with multiple pituitary hormone deficiency.

Flemming GM, Klammt J, Ambler G, Bao Y, Blum WF, Cowell C, Donaghue K, Howard N, Kumar A, Sanchez J, Stobbe H, Pfäffle RW.

J Clin Endocrinol Metab. 2013 Mar;98(3):E567-75. doi: 10.1210/jc.2012-3224. Epub 2013 Feb 13.

16.
17.

The spectrum of hypopituitarism caused by PROP1 mutations.

Mody S, Brown MR, Parks JS.

Best Pract Res Clin Endocrinol Metab. 2002 Sep;16(3):421-31. Review.

PMID:
12464226
18.

Adult height in patients with permanent growth hormone deficiency with and without multiple pituitary hormone deficiencies.

Maghnie M, Ambrosini L, Cappa M, Pozzobon G, Ghizzoni L, Ubertini MG, di Iorgi N, Tinelli C, Pilia S, Chiumello G, Lorini R, Loche S.

J Clin Endocrinol Metab. 2006 Aug;91(8):2900-5. Epub 2006 May 9.

PMID:
16684828
19.

MRI findings and genotype analysis in patients with childhood onset growth hormone deficiency--correlation with severity of hypopituitarism.

Zimmermann A, Schenk JP, Grigorescu Sido P, Pfaffle R, Lazea C, Zimmermann T, Heinrich U, Weber MM, Bettendorf M.

J Pediatr Endocrinol Metab. 2007 May;20(5):587-96.

PMID:
17642419
20.

Combined pituitary hormone deficiency in Australian children: clinical and genetic correlates.

McLennan K, Jeske Y, Cotterill A, Cowley D, Penfold J, Jones T, Howard N, Thomsett M, Choong C.

Clin Endocrinol (Oxf). 2003 Jun;58(6):785-94.

PMID:
12780757
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