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Journal Abstract Search

238 related items for PubMed ID: 33184694

  • 41. Increased gene dosage at Xq26-q27 is associated with X-linked hypopituitarism.
    Solomon NM, Nouri S, Warne GL, Lagerström-Fermér M, Forrest SM, Thomas PQ.
    Genomics; 2002 Apr; 79(4):553-9. PubMed ID: 11944988
    [Abstract] [Full Text] [Related]

  • 42. Somatic mosaicism underlies X-linked acrogigantism syndrome in sporadic male subjects.
    Daly AF, Yuan B, Fina F, Caberg JH, Trivellin G, Rostomyan L, de Herder WW, Naves LA, Metzger D, Cuny T, Rabl W, Shah N, Jaffrain-Rea ML, Zatelli MC, Faucz FR, Castermans E, Nanni-Metellus I, Lodish M, Muhammad A, Palmeira L, Potorac I, Mantovani G, Neggers SJ, Klein M, Barlier A, Liu P, Ouafik L, Bours V, Lupski JR, Stratakis CA, Beckers A.
    Endocr Relat Cancer; 2016 Apr; 23(4):221-33. PubMed ID: 26935837
    [Abstract] [Full Text] [Related]

  • 43. Screening for genetic causes of growth hormone hypersecretion.
    Rostomyan L, Beckers A.
    Growth Horm IGF Res; 2016 Apr; 30-31():52-57. PubMed ID: 27756606
    [Abstract] [Full Text] [Related]

  • 44. HEREDITARY ENDOCRINE TUMOURS: CURRENT STATE-OF-THE-ART AND RESEARCH OPPORTUNITIES: The roles of AIP and GPR101 in familial isolated pituitary adenomas (FIPA).
    Vasilev V, Daly AF, Trivellin G, Stratakis CA, Zacharieva S, Beckers A.
    Endocr Relat Cancer; 2020 Aug; 27(8):T77-T86. PubMed ID: 32083999
    [Abstract] [Full Text] [Related]

  • 45. Identification and characterization of an Xq26-q27 duplication in a family with spina bifida and panhypopituitarism suggests the involvement of two distinct genes.
    Hol FA, Schepens MT, van Beersum SE, Redolfi E, Affer M, Vezzoni P, Hamel BC, Karnes PS, Mariman EC, Zucchi I.
    Genomics; 2000 Oct 15; 69(2):174-81. PubMed ID: 11031100
    [Abstract] [Full Text] [Related]

  • 46. Knockout mice with pituitary malformations help identify human cases of hypopituitarism.
    Martinez-Mayer J, Brinkmeier ML, O'Connell SP, Ukagwu A, Marti MA, Miras M, Forclaz MV, Benzrihen MG, Cheung LYM, Camper SA, Ellsworth BS, Raetzman LT, Pérez-Millán MI, Davis SW.
    Genome Med; 2024 May 31; 16(1):75. PubMed ID: 38822427
    [Abstract] [Full Text] [Related]

  • 47. PROKR2 variants in multiple hypopituitarism with pituitary stalk interruption.
    Reynaud R, Jayakody SA, Monnier C, Saveanu A, Bouligand J, Guedj AM, Simonin G, Lecomte P, Barlier A, Rondard P, Martinez-Barbera JP, Guiochon-Mantel A, Brue T.
    J Clin Endocrinol Metab; 2012 Jun 31; 97(6):E1068-73. PubMed ID: 22466334
    [Abstract] [Full Text] [Related]

  • 48. Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes.
    Correa FA, Jorge AA, Nakaguma M, Canton AP, Costa SS, Funari MF, Lerario AM, Franca MM, Carvalho LR, Krepischi AC, Arnhold IJ, Rosenberg C, Mendonca BB.
    Clin Endocrinol (Oxf); 2018 Mar 31; 88(3):425-431. PubMed ID: 29265571
    [Abstract] [Full Text] [Related]

  • 49. Identification of genetic variants and phenotypic characterization of a large cohort of patients with congenital hypopituitarism and related disorders.
    Gregory LC, Cionna C, Cerbone M, Dattani MT.
    Genet Med; 2023 Sep 31; 25(9):100881. PubMed ID: 37165954
    [Abstract] [Full Text] [Related]

  • 50. Very low frequency of germline GPR101 genetic variation and no biallelic defects with AIP in a large cohort of patients with sporadic pituitary adenomas.
    Lecoq AL, Bouligand J, Hage M, Cazabat L, Salenave S, Linglart A, Young J, Guiochon-Mantel A, Chanson P, Kamenický P.
    Eur J Endocrinol; 2016 Apr 31; 174(4):523-30. PubMed ID: 26792934
    [Abstract] [Full Text] [Related]

  • 51. X-LAG: How did they grow so tall?
    Beckers A, Rostomyan L, Potorac I, Beckers P, Daly AF.
    Ann Endocrinol (Paris); 2017 Jun 31; 78(2):131-136. PubMed ID: 28457479
    [Abstract] [Full Text] [Related]

  • 52. Rare Frequency of Mutations in Pituitary Transcription Factor Genes in Combined Pituitary Hormone or Isolated Growth Hormone Deficiencies in Korea.
    Choi JH, Jung CW, Kang E, Kim YM, Heo SH, Lee BH, Kim GH, Yoo HW.
    Yonsei Med J; 2017 May 31; 58(3):527-532. PubMed ID: 28332357
    [Abstract] [Full Text] [Related]

  • 53. Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency.
    Laumonnier F, Ronce N, Hamel BC, Thomas P, Lespinasse J, Raynaud M, Paringaux C, Van Bokhoven H, Kalscheuer V, Fryns JP, Chelly J, Moraine C, Briault S.
    Am J Hum Genet; 2002 Dec 31; 71(6):1450-5. PubMed ID: 12428212
    [Abstract] [Full Text] [Related]

  • 54. Screening a large pediatric cohort with GH deficiency for mutations in genes regulating pituitary development and GH secretion: Frequencies, phenotypes and growth outcomes.
    Blum WF, Klammt J, Amselem S, Pfäffle HM, Legendre M, Sobrier ML, Luton MP, Child CJ, Jones C, Zimmermann AG, Quigley CA, Cutler GB, Deal CL, Lebl J, Rosenfeld RG, Parks JS, Pfäffle RW.
    EBioMedicine; 2018 Oct 31; 36():390-400. PubMed ID: 30266296
    [Abstract] [Full Text] [Related]

  • 55. Developmental disorders of the hypothalamus and pituitary gland associated with congenital hypopituitarism.
    Mehta A, Dattani MT.
    Best Pract Res Clin Endocrinol Metab; 2008 Feb 31; 22(1):191-206. PubMed ID: 18279788
    [Abstract] [Full Text] [Related]

  • 56. Digenic Inheritance of PROKR2 and WDR11 Mutations in Pituitary Stalk Interruption Syndrome.
    McCormack SE, Li D, Kim YJ, Lee JY, Kim SH, Rapaport R, Levine MA.
    J Clin Endocrinol Metab; 2017 Jul 01; 102(7):2501-2507. PubMed ID: 28453858
    [Abstract] [Full Text] [Related]

  • 57. Gigantism, acromegaly, and GPR101 mutations.
    Roohi J.
    N Engl J Med; 2015 Mar 26; 372(13):1264-5. PubMed ID: 25806921
    [No Abstract] [Full Text] [Related]

  • 58. Gigantism, acromegaly, and GPR101 mutations.
    Kamenický P, Bouligand J, Chanson P.
    N Engl J Med; 2015 Mar 26; 372(13):1264. PubMed ID: 25806920
    [No Abstract] [Full Text] [Related]

  • 59. Gigantism, acromegaly, and GPR101 mutations.
    Daly AF, Trivellin G, Stratakis CA.
    N Engl J Med; 2015 Mar 26; 372(13):1265. PubMed ID: 25806919
    [No Abstract] [Full Text] [Related]

  • 60. Allelic Variants in Established Hypopituitarism Genes Expand Our Knowledge of the Phenotypic Spectrum.
    Nakaguma M, Ferreira NGBP, Benedetti AFF, Madi MC, Silva JM, Li JZ, Ma Q, Bilge Ozel A, Fang Q, Narcizo AM, Cardoso LC, Montenegro LR, Funari MFA, Nishi MY, Arnhold IJP, Jorge AAL, Mendonca BB, Camper SA, Carvalho LR.
    Genes (Basel); 2021 Jul 25; 12(8):. PubMed ID: 34440302
    [Abstract] [Full Text] [Related]

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