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 *

135 related articles for article (PubMed ID: 19449667)

  • 41. A novel deletion involving GNAS exon 1 causes PHP1A and further refines the region required for normal methylation at exon A/B.
    Reyes M; Karaca A; Bastepe M; Gulcelik NE; Jüppner H
    Bone; 2017 Oct; 103():281-286. PubMed ID: 28711660
    [TBL] [Abstract][Full Text] [Related]  

  • 42. An update on the clinical and molecular characteristics of pseudohypoparathyroidism.
    Levine MA
    Curr Opin Endocrinol Diabetes Obes; 2012 Dec; 19(6):443-51. PubMed ID: 23076042
    [TBL] [Abstract][Full Text] [Related]  

  • 43. A novel mutation in pseudohypoparathyroidism type 1a in a Chinese woman and her son with hypocalcaemia.
    Tam VH; Chen SP; Mak CM; Fung LM; Lee CY; Chan AY
    Hong Kong Med J; 2014 Jun; 20(3):258-60. PubMed ID: 24914079
    [TBL] [Abstract][Full Text] [Related]  

  • 44. Compound heterozygous mutations in the GNAS gene of a boy with morbid obesity, thyroid-stimulating hormone resistance, pseudohypoparathyroidism, and a prothrombotic state.
    Freson K; Izzi B; Jaeken J; Van Helvoirt M; Thys C; Wittevrongel C; de Zegher F; Van Geet C
    J Clin Endocrinol Metab; 2008 Dec; 93(12):4844-9. PubMed ID: 18796523
    [TBL] [Abstract][Full Text] [Related]  

  • 45. Pseudohypoparathyroidism type 1a with congenital hypothyroidism.
    Pinsker JE; Rogers W; McLean S; Schaefer FV; Fenton C
    J Pediatr Endocrinol Metab; 2006 Aug; 19(8):1049-52. PubMed ID: 16995592
    [TBL] [Abstract][Full Text] [Related]  

  • 46. Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib.
    Bastepe M; Fröhlich LF; Linglart A; Abu-Zahra HS; Tojo K; Ward LM; Jüppner H
    Nat Genet; 2005 Jan; 37(1):25-7. PubMed ID: 15592469
    [TBL] [Abstract][Full Text] [Related]  

  • 47. Lack of Gnas epigenetic changes and pseudohypoparathyroidism type Ib in mice with targeted disruption of syntaxin-16.
    Fröhlich LF; Bastepe M; Ozturk D; Abu-Zahra H; Jüppner H
    Endocrinology; 2007 Jun; 148(6):2925-35. PubMed ID: 17317779
    [TBL] [Abstract][Full Text] [Related]  

  • 48. A novel GNAS mutation inherited from probable maternal mosaicism causes two siblings with pseudohypoparathyroidism type 1A.
    Wang Q; Xian J; Chen P; Wang J; Gao Y; Zheng X; Tan Z; Li C; Zeng K
    J Pediatr Endocrinol Metab; 2020 Sep; 33(9):1219-1224. PubMed ID: 32866120
    [TBL] [Abstract][Full Text] [Related]  

  • 49. Genetic and epigenetic alterations in the GNAS locus and clinical consequences in Pseudohypoparathyroidism: Italian common healthcare pathways adoption.
    de Sanctis L; Giachero F; Mantovani G; Weber G; Salerno M; Baroncelli GI; Elli MF; Matarazzo P; Wasniewska M; Mazzanti L; Scirè G; Tessaris D;
    Ital J Pediatr; 2016 Nov; 42(1):101. PubMed ID: 27871293
    [TBL] [Abstract][Full Text] [Related]  

  • 50. Early manifestation of calcinosis cutis in pseudohypoparathyroidism type Ia associated with a novel mutation in the GNAS gene.
    Riepe FG; Ahrens W; Krone N; Fölster-Holst R; Brasch J; Sippell WG; Hiort O; Partsch CJ
    Eur J Endocrinol; 2005 Apr; 152(4):515-9. PubMed ID: 15817905
    [TBL] [Abstract][Full Text] [Related]  

  • 51. Very small deletions within the NESP55 gene in pseudohypoparathyroidism type 1b.
    Rezwan FI; Poole RL; Prescott T; Walker JM; Karen Temple I; Mackay DJ
    Eur J Hum Genet; 2015 Apr; 23(4):494-9. PubMed ID: 25005734
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects.
    Rochtus A; Martin-Trujillo A; Izzi B; Elli F; Garin I; Linglart A; Mantovani G; Perez de Nanclares G; Thiele S; Decallonne B; Van Geet C; Monk D; Freson K
    Clin Epigenetics; 2016; 8():10. PubMed ID: 26819647
    [TBL] [Abstract][Full Text] [Related]  

  • 53. Genetic and epigenetic states of the GNAS complex in pseudohypoparathyroidism type Ib using methylation-specific multiplex ligation-dependent probe amplification assay.
    Yuno A; Usui T; Yambe Y; Higashi K; Ugi S; Shinoda J; Mashio Y; Shimatsu A
    Eur J Endocrinol; 2013 Feb; 168(2):169-75. PubMed ID: 23132697
    [TBL] [Abstract][Full Text] [Related]  

  • 54. Two mutations of the Gsalpha gene in two Japanese patients with sporadic pseudohypoparathyroidism type Ia.
    Ishikawa Y; Tajima T; Nakae J; Nagashima T; Satoh K; Okuhara K; Fujieda K
    J Hum Genet; 2001; 46(7):426-30. PubMed ID: 11450852
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Progressive osseous heteroplasia: a model for the imprinting effects of GNAS inactivating mutations in humans.
    Lebrun M; Richard N; Abeguilé G; David A; Coëslier Dieux A; Journel H; Lacombe D; Pinto G; Odent S; Salles JP; Taieb A; Gandon-Laloum S; Kottler ML
    J Clin Endocrinol Metab; 2010 Jun; 95(6):3028-38. PubMed ID: 20427508
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Genetic and epigenetic defects at the GNAS locus cause different forms of pseudohypoparathyroidism.
    Jüppner H
    Ann Endocrinol (Paris); 2015 May; 76(2):92-7. PubMed ID: 25882888
    [No Abstract]   [Full Text] [Related]  

  • 57. Similar clinical and laboratory findings in patients with symptomatic autosomal dominant and sporadic pseudohypoparathyroidism type Ib despite different epigenetic changes at the GNAS locus.
    Linglart A; Bastepe M; Jüppner H
    Clin Endocrinol (Oxf); 2007 Dec; 67(6):822-31. PubMed ID: 17651445
    [TBL] [Abstract][Full Text] [Related]  

  • 58. [GNAS1 gene abnormality in pseudohypoparathyroidism I a].
    Ozono K
    Clin Calcium; 2007 Aug; 17(8):1214-9. PubMed ID: 17660618
    [TBL] [Abstract][Full Text] [Related]  

  • 59. Evidence of hormone resistance in a pseudo-pseudohypoparathyroidism patient with a novel paternal mutation in GNAS.
    Turan S; Thiele S; Tafaj O; Brix B; Atay Z; Abali S; Haliloglu B; Bereket A; Bastepe M
    Bone; 2015 Feb; 71():53-7. PubMed ID: 25464124
    [TBL] [Abstract][Full Text] [Related]  

  • 60. Albright's hereditary osteodystrophy.
    Wilson LC
    J Pediatr Endocrinol Metab; 2006 May; 19 Suppl 2():671-3. PubMed ID: 16789633
    [No Abstract]   [Full Text] [Related]  

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