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PUBMED FOR HANDHELDS

Journal Abstract Search


315 related items for PubMed ID: 22466334

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  • 5. Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome.
    Karaca E, Buyukkaya R, Pehlivan D, Charng WL, Yaykasli KO, Bayram Y, Gambin T, Withers M, Atik MM, Arslanoglu I, Bolu S, Erdin S, Buyukkaya A, Yaykasli E, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR.
    J Clin Endocrinol Metab; 2015 Jan; 100(1):E140-7. PubMed ID: 25322266
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  • 6. Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum.
    Cole LW, Sidis Y, Zhang C, Quinton R, Plummer L, Pignatelli D, Hughes VA, Dwyer AA, Raivio T, Hayes FJ, Seminara SB, Huot C, Alos N, Speiser P, Takeshita A, Van Vliet G, Pearce S, Crowley WF, Zhou QY, Pitteloud N.
    J Clin Endocrinol Metab; 2008 Sep; 93(9):3551-9. PubMed ID: 18559922
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  • 10. A comparative phenotypic study of kallmann syndrome patients carrying monoallelic and biallelic mutations in the prokineticin 2 or prokineticin receptor 2 genes.
    Sarfati J, Guiochon-Mantel A, Rondard P, Arnulf I, Garcia-Piñero A, Wolczynski S, Brailly-Tabard S, Bidet M, Ramos-Arroyo M, Mathieu M, Lienhardt-Roussie A, Morgan G, Turki Z, Bremont C, Lespinasse J, Du Boullay H, Chabbert-Buffet N, Jacquemont S, Reach G, De Talence N, Tonella P, Conrad B, Despert F, Delobel B, Brue T, Bouvattier C, Cabrol S, Pugeat M, Murat A, Bouchard P, Hardelin JP, Dodé C, Young J.
    J Clin Endocrinol Metab; 2010 Feb; 95(2):659-69. PubMed ID: 20022991
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  • 11. 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
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  • 13. Germline prokineticin receptor 2 (PROKR2) variants associated with central hypogonadism cause differental modulation of distinct intracellular pathways.
    Libri DV, Kleinau G, Vezzoli V, Busnelli M, Guizzardi F, Sinisi AA, Pincelli AI, Mancini A, Russo G, Beck-Peccoz P, Loche S, Crivellaro C, Maghnie M, Krausz C, Persani L, Bonomi M, Italian Study Group on Idiopathic Central Hypogonadism (ICH).
    J Clin Endocrinol Metab; 2014 Mar; 99(3):E458-63. PubMed ID: 24276467
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  • 14. Correlation between Pituitary Stalk Interruption Syndrome and Prokineticin Receptor 2 and Prokineticin 2 Mutations.
    Han BY, Li LL, Wang CZ, Guo QH, Lv ZH, Mu YM, Dou JT.
    Zhongguo Yi Xue Ke Xue Yuan Xue Bao; 2016 Feb; 38(1):37-41. PubMed ID: 26956854
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  • 17. Pituitary stalk interruption syndrome in 83 patients: novel HESX1 mutation and severe hormonal prognosis in malformative forms.
    Reynaud R, Albarel F, Saveanu A, Kaffel N, Castinetti F, Lecomte P, Brauner R, Simonin G, Gaudart J, Carmona E, Enjalbert A, Barlier A, Brue T.
    Eur J Endocrinol; 2011 Apr; 164(4):457-65. PubMed ID: 21270112
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  • 19. Classical and non-classical causes of GH deficiency in the paediatric age.
    Di Iorgi N, Morana G, Allegri AE, Napoli F, Gastaldi R, Calcagno A, Patti G, Loche S, Maghnie M.
    Best Pract Res Clin Endocrinol Metab; 2016 Dec; 30(6):705-736. PubMed ID: 27974186
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