These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

176 related articles for article (PubMed ID: 12904605)

  • 1. 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]  

  • 2. GH and TSH deficiency.
    Pfäffle RW; Martinez R; Kim C; Frisch H; Lebl J; Otten B; Heimann G
    Exp Clin Endocrinol Diabetes; 1997; 105 Suppl 4():1-5. PubMed ID: 9439906
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Pro239Ser: a novel recessive mutation of the Pit-1 gene in seven Middle Eastern children with growth hormone, prolactin, and thyrotropin deficiency.
    Pernasetti F; Milner RD; al Ashwal AA; de Zegher F; Chavez VM; Muller M; Martial JA
    J Clin Endocrinol Metab; 1998 Jun; 83(6):2079-83. PubMed ID: 9626142
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [Molecular pathology of congenital pituitary hypothyroidism--discovery of new clinical entities].
    Tatsumi K; Amino N; Miyai K
    Rinsho Byori; 1993 May; 41(5):533-40. PubMed ID: 8350517
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Cretinism with combined hormone deficiency caused by a mutation in the PIT1 gene.
    Tatsumi K; Miyai K; Notomi T; Kaibe K; Amino N; Mizuno Y; Kohno H
    Nat Genet; 1992 Apr; 1(1):56-8. PubMed ID: 1302000
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [Pituitary specific transcription factor Pit-1/GHF-1 and combined pituitary hormone deficiency].
    Tatsumi K
    Nihon Rinsho; 1994 Apr; 52(4):957-61. PubMed ID: 8196186
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. A "hot spot" in the Pit-1 gene responsible for combined pituitary hormone deficiency: clinical and molecular correlates.
    Cohen LE; Wondisford FE; Salvatoni A; Maghnie M; Brucker-Davis F; Weintraub BD; Radovick S
    J Clin Endocrinol Metab; 1995 Feb; 80(2):679-84. PubMed ID: 7852536
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. GH transcription factors.
    Pfaffle RW; Kim C; Blankenstein O; Kentrup H
    J Pediatr Endocrinol Metab; 1999 Apr; 12 Suppl 1():311-7. PubMed ID: 10698595
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A novel POU1F1 mutation (p.Thr168IlefsX7) associated with an early and severe form of combined pituitary hormone deficiency: functional analysis and follow-up from infancy to adulthood.
    Tenenbaum-Rakover Y; Sobrier ML; Amselem S
    Clin Endocrinol (Oxf); 2011 Aug; 75(2):214-9. PubMed ID: 21521297
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. [The pituitary specific transcription factor Pit-1/GHF-1 and PIT1 abnormality].
    Tatsumi K; Amino N
    Rinsho Byori; 1997 Jul; 45(7):656-9. PubMed ID: 9256012
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Functional characterization of a human POU1F1 mutation associated with isolated growth hormone deficiency: a novel etiology for IGHD.
    Sobrier ML; Tsai YC; Pérez C; Leheup B; Bouceba T; Duquesnoy P; Copin B; Sizova D; Penzo A; Stanger BZ; Cooke NE; Liebhaber SA; Amselem S
    Hum Mol Genet; 2016 Feb; 25(3):472-83. PubMed ID: 26612202
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [From gene to disease; POU1F1- and PROP1-mutations in pituitary hormone deficiency].
    Wit JM; Vulsma T; de Vijlder JJ
    Ned Tijdschr Geneeskd; 2001 Dec; 145(50):2425-7. PubMed ID: 11776668
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Truncation of PITX2 differentially affects its activity on physiological targets.
    Quentien MH; Vieira V; Menasche M; Dufier JL; Herman JP; Enjalbert A; Abitbol M; Brue T
    J Mol Endocrinol; 2011 Feb; 46(1):9-19. PubMed ID: 20978111
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Cellular determination in the anterior pituitary gland: PIT-1 and PROP-1 mutations as causes of human combined pituitary hormone deficiency.
    Rodriguez R; Andersen B
    Minerva Endocrinol; 2003 Jun; 28(2):123-33. PubMed ID: 12717343
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. A novel E250X mutation of the PIT1 gene in a patient with combined pituitary hormone deficiency.
    Irie Y; Tatsumi K; Ogawa M; Kamijo T; Preeyasombat C; Suprasongsin C; Amino N
    Endocr J; 1995 Jun; 42(3):351-4. PubMed ID: 7670563
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.