BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

188 related articles for article (PubMed ID: 22897141)

  • 1. Single-nucleotide variants in two Hedgehog genes, SHH and HHIP, as genetic cause of combined pituitary hormone deficiency.
    Gorbenko del Blanco D; de Graaff LC; Visser TJ; Hokken-Koelega AC
    Clin Endocrinol (Oxf); 2013 Mar; 78(3):415-23. PubMed ID: 22897141
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Transcriptional silencing of hedgehog-interacting protein by CpG hypermethylation and chromatic structure in human gastrointestinal cancer.
    Taniguchi H; Yamamoto H; Akutsu N; Nosho K; Adachi Y; Imai K; Shinomura Y
    J Pathol; 2007 Oct; 213(2):131-9. PubMed ID: 17724792
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [Genetic aspects of growth hormone deficiency].
    Reynaud R; Castinetti F; Galon-Faure N; Albarel-Loy F; Saveanu A; Quentien MH; Jullien N; Khammar A; Enjalbert A; Barlier A; Brue T
    Arch Pediatr; 2011 Jun; 18(6):696-706. PubMed ID: 21497494
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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. PubMed ID: 15963055
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Novel Mutations in HESX1 and PROP1 Genes in Combined Pituitary Hormone Deficiency.
    Avbelj Stefanija M; Kotnik P; Bratanič N; Žerjav Tanšek M; Bertok S; Bratina N; Battelino T; Trebušak Podkrajšek K
    Horm Res Paediatr; 2015; 84(3):153-8. PubMed ID: 26111865
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A novel OTX2 mutation in a patient with combined pituitary hormone deficiency, pituitary malformation, and an underdeveloped left optic nerve.
    Gorbenko Del Blanco D; Romero CJ; Diaczok D; de Graaff LC; Radovick S; Hokken-Koelega AC
    Eur J Endocrinol; 2012 Sep; 167(3):441-52. PubMed ID: 22715480
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Sonic Hedgehog mutations are not a common cause of congenital hypopituitarism in the absence of complex midline cerebral defects.
    Paulo SS; Fernandes-Rosa FL; Turatti W; Coeli-Lacchini FB; Martinelli CE; Nakiri GS; Moreira AC; Santos AC; de Castro M; Antonini SR
    Clin Endocrinol (Oxf); 2015 Apr; 82(4):562-9. PubMed ID: 25056824
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly.
    França MM; Jorge AA; Carvalho LR; Costalonga EF; Otto AP; Correa FA; Mendonca BB; Arnhold IJ
    Clin Endocrinol (Oxf); 2013 Apr; 78(4):551-7. PubMed ID: 22967285
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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.
    Dateki S; Fukami M; Uematsu A; Kaji M; Iso M; Ono M; Mizota M; Yokoya S; Motomura K; Kinoshita E; Moriuchi H; Ogata T
    J Clin Endocrinol Metab; 2010 Aug; 95(8):4043-7. PubMed ID: 20534763
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations.
    Madeira JL; Nishi MY; Nakaguma M; Benedetti AF; Biscotto IP; Fernandes T; Pequeno T; Figueiredo T; Franca MM; Correa FA; Otto AP; Abrão M; Miras MB; Santos S; Jorge AA; Costalonga EF; Mendonca BB; Arnhold IJ; Carvalho LR
    Clin Endocrinol (Oxf); 2017 Dec; 87(6):725-732. PubMed ID: 28734020
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Genetic screening of regulatory regions of pituitary transcription factors in patients with idiopathic pituitary hormone deficiencies.
    Elizabeth M; Hokken-Koelega ACS; Schuilwerve J; Peeters RP; Visser TJ; de Graaff LCG
    Pituitary; 2018 Feb; 21(1):76-83. PubMed ID: 29255988
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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.
    Vieira TC; Boldarine VT; Abucham J
    Arq Bras Endocrinol Metabol; 2007 Oct; 51(7):1097-103. PubMed ID: 18157385
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Hormonal, pituitary magnetic resonance, LHX4 and HESX1 evaluation in patients with hypopituitarism and ectopic posterior pituitary lobe.
    Melo ME; Marui S; Carvalho LR; Arnhold IJ; Leite CC; Mendonça BB; Knoepfelmacher M
    Clin Endocrinol (Oxf); 2007 Jan; 66(1):95-102. PubMed ID: 17201807
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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. PubMed ID: 16984240
    [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. Novel GLI2 mutations identified in patients with Combined Pituitary Hormone Deficiency (CPHD): Evidence for a pathogenic effect by functional characterization.
    Babu D; Fanelli A; Mellone S; Muniswamy R; Wasniewska M; Prodam F; Petri A; Bellone S; Salerno MC; Giordano M
    Clin Endocrinol (Oxf); 2019 Mar; 90(3):449-456. PubMed ID: 30548673
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Hedgehog-Interacting Protein is a multimodal antagonist of Hedgehog signalling.
    Griffiths SC; Schwab RA; El Omari K; Bishop B; Iverson EJ; Malinauskas T; Dubey R; Qian M; Covey DF; Gilbert RJC; Rohatgi R; Siebold C
    Nat Commun; 2021 Dec; 12(1):7171. PubMed ID: 34887403
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.