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 *

123 related articles for article (PubMed ID: 27703483)

  • 21. Case report of GNAS epigenetic defect revealed by a congenital hypothyroidism.
    Romanet P; Osei L; Netchine I; Pertuit M; Enjalbert A; Reynaud R; Barlier A
    Pediatrics; 2015 Apr; 135(4):e1079-83. PubMed ID: 25802348
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Pseudohypoparathyroidism and GNAS epigenetic defects: clinical evaluation of albright hereditary osteodystrophy and molecular analysis in 40 patients.
    Mantovani G; de Sanctis L; Barbieri AM; Elli FM; Bollati V; Vaira V; Labarile P; Bondioni S; Peverelli E; Lania AG; Beck-Peccoz P; Spada A
    J Clin Endocrinol Metab; 2010 Feb; 95(2):651-8. PubMed ID: 20061437
    [TBL] [Abstract][Full Text] [Related]  

  • 23. GNAS epigenetic defects and pseudohypoparathyroidism: time for a new classification?
    Mantovani G; Elli FM; Spada A
    Horm Metab Res; 2012 Sep; 44(10):716-23. PubMed ID: 22674477
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS.
    Bastepe M; Fröhlich LF; Hendy GN; Indridason OS; Josse RG; Koshiyama H; Körkkö J; Nakamoto JM; Rosenbloom AL; Slyper AH; Sugimoto T; Tsatsoulis A; Crawford JD; Jüppner H
    J Clin Invest; 2003 Oct; 112(8):1255-63. PubMed ID: 14561710
    [TBL] [Abstract][Full Text] [Related]  

  • 25. A maternal epimutation of GNAS leads to Albright osteodystrophy and parathyroid hormone resistance.
    Mariot V; Maupetit-Méhouas S; Sinding C; Kottler ML; Linglart A
    J Clin Endocrinol Metab; 2008 Mar; 93(3):661-5. PubMed ID: 18182455
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Pseudohypoparathyroidism type Ia. Albright hereditary osteodystrophy: a model for research on G protein-coupled receptors and genomic imprinting.
    Simon A; Koppeschaar HP; Roijers JF; Höppener JW; Lips CJ
    Neth J Med; 2000 Mar; 56(3):100-9. PubMed ID: 10759021
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Delayed diagnosis of pseudohypoparathyroidism type 1a with rare hypothyroidism since childhood.
    Jun JE; Park SY; Jeong IK; Hwang YC; Ahn KJ; Chung HY
    Oxf Med Case Reports; 2022 Aug; 2022(8):omac080. PubMed ID: 35991493
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Spinal cord compression in pseudohypoparathyroidism.
    Roberts TT; Khasnavis S; Papaliodis DN; Citone I; Carl AL
    Spine J; 2013 Dec; 13(12):e15-9. PubMed ID: 24060230
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Clinical, biochemical, and genetic analysis of korean patients with pseudohypoparathyroidism type Ia.
    Park CH; Park HD; Lee SY; Kim JW; Sohn YB; Park SW; Jin DK
    Ann Clin Lab Sci; 2010; 40(3):261-6. PubMed ID: 20689139
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Genetic basis for resistance to parathyroid hormone.
    Levine MA; Germain-Lee E; Jan de Beur S
    Horm Res; 2003; 60 Suppl 3():87-95. PubMed ID: 14671404
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Molecular analysis of the GNAS1 gene for the correct diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism.
    De Sanctis L; Romagnolo D; Olivero M; Buzi F; Maghnie M; Scirè G; Crino A; Baroncelli GI; Salerno M; Di Maio S; Cappa M; Grosso S; Rigon F; Lala R; De Sanctis C; Dianzani I
    Pediatr Res; 2003 May; 53(5):749-55. PubMed ID: 12621129
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Current Nomenclature of Pseudohypoparathyroidism: Inactivating Parathyroid Hormone/Parathyroid Hormone-Related Protein Signaling Disorder.
    Turan S
    J Clin Res Pediatr Endocrinol; 2017 Dec; 9(Suppl 2):58-68. PubMed ID: 29280743
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Pseudohypoparathyroidism type Ia from maternal but not paternal transmission of a Gsalpha gene mutation.
    Nakamoto JM; Sandstrom AT; Brickman AS; Christenson RA; Van Dop C
    Am J Med Genet; 1998 May; 77(4):261-7. PubMed ID: 9600732
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Quantitative analysis of methylation defects and correlation with clinical characteristics in patients with pseudohypoparathyroidism type I and GNAS epigenetic alterations.
    Elli FM; de Sanctis L; Bollati V; Tarantini L; Filopanti M; Barbieri AM; Peverelli E; Beck-Peccoz P; Spada A; Mantovani G
    J Clin Endocrinol Metab; 2014 Mar; 99(3):E508-17. PubMed ID: 24423294
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Endocrine and molecular biological studies in a German family with Albright hereditary osteodystrophy.
    Schuster V; Eschenhagen T; Kruse K; Gierschik P; Kreth HW
    Eur J Pediatr; 1993 Mar; 152(3):185-9. PubMed ID: 8444241
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Pseudohypoparathyroidism type IA and II with severe neuropsychic manifestations.
    Kutílek S; Kabícek P; Nedvídková J; Bayer M
    Turk J Pediatr; 2001; 43(1):70-5. PubMed ID: 11297164
    [TBL] [Abstract][Full Text] [Related]  

  • 37. New mutation type in pseudohypoparathyroidism type Ia.
    Fernandez-Rebollo E; Barrio R; Pérez-Nanclares G; Carcavilla A; Garin I; Castaño L; de Nanclares GP
    Clin Endocrinol (Oxf); 2008 Nov; 69(5):705-12. PubMed ID: 18394017
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Genetics of pseudohypoparathyroidism: bases for proper genetic counselling.
    de Nanclares GP; Fernández-Rebollo E; Gaztambide S; Castaño L
    Endocrinol Nutr; 2008 Dec; 55(10):476-83. PubMed ID: 22980463
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Pseudohypoparathyroidism: A case of hypocalcemia and hypothyroidism diagnosed during the postpartum period.
    Lim KP; Yong SL
    Malays Fam Physician; 2019; 14(1):31-34. PubMed ID: 31289630
    [TBL] [Abstract][Full Text] [Related]  

  • 40. A disruptive mutation in exon 3 of the GNAS gene with albright hereditary osteodystrophy, normocalcemic pseudohypoparathyroidism, and selective long transcript variant Gsalpha-L deficiency.
    Thiele S; Werner R; Ahrens W; Hoppe U; Marschke C; Staedt P; Hiort O
    J Clin Endocrinol Metab; 2007 May; 92(5):1764-8. PubMed ID: 17299070
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.