147 related articles for article (PubMed ID: 15844473)
1. Three novel mutations in POU1F1 in Israeli patients with combined pituitary hormone deficiency.
Gat-Yablonski G; Klar A; Hirsch D; Eliakim A; Lazar L; Hurvitz H; Phillip M
J Pediatr Endocrinol Metab; 2005 Apr; 18(4):385-93. PubMed ID: 15844473
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 12780757
[TBL] [Abstract][Full Text] [Related]
3. 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.
de Graaff LC; Argente J; Veenma DC; Drent ML; Uitterlinden AG; Hokken-Koelega AC
Horm Res Paediatr; 2010; 73(5):363-71. PubMed ID: 20389107
[TBL] [Abstract][Full Text] [Related]
4. Combined pituitary hormone deficiency caused by compound heterozygosity for two novel mutations in the POU domain of the Pit1/POU1F1 gene.
Hendriks-Stegeman BI; Augustijn KD; Bakker B; Holthuizen P; van der Vliet PC; Jansen M
J Clin Endocrinol Metab; 2001 Apr; 86(4):1545-50. PubMed ID: 11297581
[TBL] [Abstract][Full Text] [Related]
5. Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency.
Turton JP; Reynaud R; Mehta A; Torpiano J; Saveanu A; Woods KS; Tiulpakov A; Zdravkovic V; Hamilton J; Attard-Montalto S; Parascandalo R; Vella C; Clayton PE; Shalet S; Barton J; Brue T; Dattani MT
J Clin Endocrinol Metab; 2005 Aug; 90(8):4762-70. PubMed ID: 15928241
[TBL] [Abstract][Full Text] [Related]
6. Two novel mutations in the POU1F1 gene generate null alleles through different mechanisms leading to combined pituitary hormone deficiency.
Turton JP; Strom M; Langham S; Dattani MT; Le Tissier P
Clin Endocrinol (Oxf); 2012 Mar; 76(3):387-93. PubMed ID: 22010633
[TBL] [Abstract][Full Text] [Related]
7. New N-terminal located mutation (Q4ter) within the POU1F1-gene (PIT-1) causes recessive combined pituitary hormone deficiency and variable phenotype.
Salemi S; Besson A; Eblé A; Gallati S; Pfäffle RW; Mullis PE
Growth Horm IGF Res; 2003 Oct; 13(5):264-8. PubMed ID: 12932747
[TBL] [Abstract][Full Text] [Related]
8. Identification of a novel mutation in the exon 2 splice donor site of the POU1F1/PIT-1 gene in Japanese identical twins with mild combined pituitary hormone deficiency.
Inoue H; Mukai T; Sakamoto Y; Kimura C; Kangawa N; Itakura M; Ogata T; Ito Y; Fujieda K;
Clin Endocrinol (Oxf); 2012 Jan; 76(1):78-87. PubMed ID: 21722153
[TBL] [Abstract][Full Text] [Related]
9. A mutation in the POU-homeodomain of Pit-1 responsible for combined pituitary hormone deficiency.
Radovick S; Nations M; Du Y; Berg LA; Weintraub BD; Wondisford FE
Science; 1992 Aug; 257(5073):1115-8. PubMed ID: 1509262
[TBL] [Abstract][Full Text] [Related]
10. Identification and functional analysis of the novel S179R POU1F1 mutation associated with combined pituitary hormone deficiency.
Miyata I; Vallette-Kasic S; Saveanu A; Takeuchi M; Yoshikawa H; Tajima A; Tojo K; Reynaud R; Gueydan M; Enjalbert A; Tajima N; Eto Y; Brue T
J Clin Endocrinol Metab; 2006 Dec; 91(12):4981-7. PubMed ID: 16968807
[TBL] [Abstract][Full Text] [Related]
11. A novel mutation in PIT-1: phenotypic variability in familial combined pituitary hormone deficiencies.
Gat-Yablonski G; Lazar L; Pertzelan A; Phillip M
J Pediatr Endocrinol Metab; 2002 Mar; 15(3):325-30. PubMed ID: 11924936
[TBL] [Abstract][Full Text] [Related]
12. Combined pituitary hormone deficiency due to the F135C human Pit-1 (pituitary-specific factor 1) gene mutation: functional and structural correlates.
Vallette-Kasic S; Pellegrini-Bouiller I; Sampieri F; Gunz G; Diaz A; Radovick S; Enjalbert A; Brue T
Mol Endocrinol; 2001 Mar; 15(3):411-20. PubMed ID: 11222742
[TBL] [Abstract][Full Text] [Related]
13. A new mutation of the gene encoding the transcription factor Pit-1 is responsible for combined pituitary hormone deficiency.
Pellegrini-Bouiller I; Bélicar P; Barlier A; Gunz G; Charvet JP; Jaquet P; Brue T; Vialettes B; Enjalbert A
J Clin Endocrinol Metab; 1996 Aug; 81(8):2790-6. PubMed ID: 8768831
[TBL] [Abstract][Full Text] [Related]
14. A Novel Splice-Site Deletion in the
Hassan SS; Abdullah M; Trebusak Podkrajsek K; Musa S; Ibrahim A; Babiker O; Kovac J; Battelino T; Avbelj Stefanija M
Genes (Basel); 2022 Apr; 13(4):. PubMed ID: 35456463
[TBL] [Abstract][Full Text] [Related]
15. "Hot spot" in the PROP1 gene responsible for combined pituitary hormone deficiency.
Deladoëy J; Flück C; Büyükgebiz A; Kuhlmann BV; Eblé A; Hindmarsh PC; Wu W; Mullis PE
J Clin Endocrinol Metab; 1999 May; 84(5):1645-50. PubMed ID: 10323394
[TBL] [Abstract][Full Text] [Related]
16. 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.
Rainbow LA; Rees SA; Shaikh MG; Shaw NJ; Cole T; Barrett TG; Kirk JM
Clin Endocrinol (Oxf); 2005 Feb; 62(2):163-8. PubMed ID: 15670191
[TBL] [Abstract][Full Text] [Related]
17. Pituitary dwarfism in the R271W Pit-1 gene mutation.
Aarskog D; Eiken HG; Bjerknes R; Myking OL
Eur J Pediatr; 1997 Nov; 156(11):829-34. PubMed ID: 9392392
[TBL] [Abstract][Full Text] [Related]
18. Molecular analysis of PROP1, POU1F1, LHX3, and HESX1 in Turkish patients with combined pituitary hormone deficiency: a multicenter study.
Baş F; Uyguner ZO; Darendeliler F; Aycan Z; Çetinkaya E; Berberoğlu M; Şiklar Z; Öcal G; Darcan Ş; Gökşen D; Topaloğlu AK; Yüksel B; Özbek MN; Ercan O; Evliyaoğlu O; Çetinkaya S; Şen Y; Atabek E; Toksoy G; Aydin BK; Bundak R
Endocrine; 2015 Jun; 49(2):479-91. PubMed ID: 25500790
[TBL] [Abstract][Full Text] [Related]
19. 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; Rosenfeld MG
Nat Genet; 1998 Feb; 18(2):147-9. PubMed ID: 9462743
[TBL] [Abstract][Full Text] [Related]
20. The de novo Q167K mutation in the POU1F1 gene leads to combined pituitary hormone deficiency in an Italian patient.
Malvagia S; Poggi GM; Pasquini E; Donati MA; Pela I; Morrone A; Zammarchi E
Pediatr Res; 2003 Nov; 54(5):635-40. PubMed ID: 12904605
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]