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Journal Abstract Search

190 related items for PubMed ID: 33989717

  • 1. PTH resistance.
    Mantovani G, Elli FM.
    Mol Cell Endocrinol; 2021 Jul 01; 531():111311. PubMed ID: 33989717
    [Abstract] [Full Text] [Related]

  • 2. Current Nomenclature of Pseudohypoparathyroidism: Inactivating Parathyroid Hormone/Parathyroid Hormone-Related Protein Signaling Disorder.
    Turan S.
    J Clin Res Pediatr Endocrinol; 2017 Dec 30; 9(Suppl 2):58-68. PubMed ID: 29280743
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  • 3. Inactivating PTH/PTHrP Signaling Disorders.
    Mantovani G, Elli FM.
    Front Horm Res; 2019 Dec 30; 51():147-159. PubMed ID: 30641531
    [Abstract] [Full Text] [Related]

  • 4. Identification of novel pathogenic variants and features in patients with pseudohypoparathyroidism and acrodysostosis, subtypes of the newly classified inactivating PTH/PTHrP signaling disorders.
    Truelove A, Mulay A, Prapa M, Casey RT, Adler AI, Offiah AC, Poole KES, Trotman J, Al Hasso N, Park SM.
    Am J Med Genet A; 2019 Jul 30; 179(7):1330-1337. PubMed ID: 31041856
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  • 6. Pseudohypoparathyroidism and idiopathic hypoparathyroidism: relationship between serum calcium and parathyroid hormone levels and urinary cyclic adenosine-3',5'-monophosphate response to parathyroid extract.
    Werder EA, Fischer JA, Illig R, Kind HP, Bernasconi S, Fanconi A, Prader A.
    J Clin Endocrinol Metab; 1978 Jun 30; 46(6):872-9. PubMed ID: 233700
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  • 8. From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network.
    Thiele S, Mantovani G, Barlier A, Boldrin V, Bordogna P, De Sanctis L, Elli FM, Freson K, Garin I, Grybek V, Hanna P, Izzi B, Hiort O, Lecumberri B, Pereda A, Saraff V, Silve C, Turan S, Usardi A, Werner R, de Nanclares GP, Linglart A.
    Eur J Endocrinol; 2016 Dec 30; 175(6):P1-P17. PubMed ID: 27401862
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  • 10. A severe inactivating PTH/PTHrP signaling disorder type 2 in a patient carrying a novel large deletion of the GNAS gene: a case report and review of the literature.
    Brancatella A, Mantovani G, Elli FM, Borsari S, Marcocci C, Cetani F.
    Endocrine; 2020 Feb 30; 67(2):466-472. PubMed ID: 31939093
    [Abstract] [Full Text] [Related]

  • 11. Inactivating PTH/PTHrP signaling disorders (iPPSDs): evaluation of the new classification in a multicenter large series of 544 molecularly characterized patients.
    Pereda A, Elli FM, Thiele S, de Sanctis L, Rothenbuhler A, Hanna P, Francou B, Ertl DA, Perez de Nanclares G, Linglart A, Mantovani G.
    Eur J Endocrinol; 2021 Feb 30; 184(2):311-320. PubMed ID: 33270042
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  • 12. Progressive Development of PTH Resistance in Patients With Inactivating Mutations on the Maternal Allele of GNAS.
    Usardi A, Mamoune A, Nattes E, Carel JC, Rothenbuhler A, Linglart A.
    J Clin Endocrinol Metab; 2017 Jun 01; 102(6):1844-1850. PubMed ID: 28323910
    [Abstract] [Full Text] [Related]

  • 13. Phenotypic and molecular genetic aspects of pseudohypoparathyroidism type Ib in a Greek kindred: evidence for enhanced uric acid excretion due to parathyroid hormone resistance.
    Laspa E, Bastepe M, Jüppner H, Tsatsoulis A.
    J Clin Endocrinol Metab; 2004 Dec 01; 89(12):5942-7. PubMed ID: 15579741
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  • 14. The actions of parathyroid hormone on bone: relation to bone remodeling and turnover, calcium homeostasis, and metabolic bone disease. Part IV of IV parts: The state of the bones in uremic hyperaparathyroidism--the mechanisms of skeletal resistance to PTH in renal failure and pseudohypoparathyroidism and the role of PTH in osteoporosis, osteopetrosis, and osteofluorosis.
    Parfitt AM.
    Metabolism; 1976 Oct 01; 25(10):1157-88. PubMed ID: 787723
    [Abstract] [Full Text] [Related]

  • 15. Prevalence of hearing loss in pseudohypoparathyroidism.
    Djian C, Berkenou J, Rothenbuhler A, Botton J, Linglart A, Nevoux J.
    Orphanet J Rare Dis; 2024 Sep 12; 19(1):339. PubMed ID: 39267114
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  • 17. Genetic basis for resistance to parathyroid hormone.
    Levine MA, Germain-Lee E, Jan de Beur S.
    Horm Res; 2003 Sep 12; 60 Suppl 3():87-95. PubMed ID: 14671404
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  • 18. Cloning and characterization of kidney-specific promoter of human PTH/PTHrP receptor gene: absence of mutation in patients with pseudohypoparathyroidism type Ib.
    Fukumoto S, Suzawa M, Kikuchi T, Matsumoto T, Kato S, Fujita T.
    Mol Cell Endocrinol; 1998 Jun 25; 141(1-2):41-7. PubMed ID: 9723884
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  • 19. Secondary hyperparathyroidism with 1,25-dihydroxyvitamin D deficiency and pseudohypoparathyroidism in childhood: relationship between plasma 1,25-dihydroxyvitamin D and parathyroid hormone levels and urinary cyclic AMP response to exogenous PTH.
    Seino Y, Ishida M, Yamaoka K, Shimotsuji T, Ishii T, Yabuuchi H, Fukase M, Fujita T.
    Eur J Pediatr; 1981 Feb 25; 135(3):267-71. PubMed ID: 6262082
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