BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

192 related articles for article (PubMed ID: 23412865)

  • 21. 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]  

  • 22. Progressive osseous heteroplasia, as an isolated entity or overlapping with Albright hereditary osteodystrophy.
    Lin MH; Numbenjapon N; Germain-Lee EL; Pitukcheewanont P
    J Pediatr Endocrinol Metab; 2015 Jul; 28(7-8):911-8. PubMed ID: 25894639
    [TBL] [Abstract][Full Text] [Related]  

  • 23. [Clinical features of two cases of pseudohypoparathyroidism (ia and ib) and molecular analysis of GNAS].
    Domínguez García A; Castaño González LA; Pérez-Nanclares G; Quinteiro González S; Caballero Fernández E
    An Pediatr (Barc); 2013 Nov; 79(5):319-24. PubMed ID: 23623851
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Diagnosis and management of congenital hypothyroidism associated with pseudohypoparathyroidism.
    Picard C; Decrequy A; Guenet D; Bursztejn AC; Toledano D; Richard N; Kottler ML
    Horm Res Paediatr; 2015; 83(2):111-7. PubMed ID: 25591844
    [TBL] [Abstract][Full Text] [Related]  

  • 25. [Different expression of the Asn264LysfsX35 mutation of the GNAS gene in a family with pseudohypoparathyroidism.].
    de Arriba Muñoz A; Labarta Aizpún JI; Dehesa EM; Calvo MT; Pérez de Nanclares G; Ferrández-Longás A
    An Pediatr (Barc); 2011 Feb; 74(2):116-21. PubMed ID: 21169072
    [TBL] [Abstract][Full Text] [Related]  

  • 26. 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]  

  • 27. 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]  

  • 28. 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]  

  • 29. 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]  

  • 30. 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]  

  • 31. Clinical and Molecular Characteristics and Long-term Follow-up of Children With Pseudohypoparathyroidism Type IA.
    Ludar H; Levy-Shraga Y; Admoni O; Majdoub H; Aronovitch KM; Koren I; Rath S; Elias-Assad G; Almashanu S; Mantovani G; Hamiel OP; Tenenbaum-Rakover Y
    J Clin Endocrinol Metab; 2024 Jan; 109(2):424-438. PubMed ID: 37669316
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Brachydactyly in 14 genetically characterized pseudohypoparathyroidism type Ia patients.
    de Sanctis L; Vai S; Andreo MR; Romagnolo D; Silvestro L; de Sanctis C
    J Clin Endocrinol Metab; 2004 Apr; 89(4):1650-5. PubMed ID: 15070926
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Neuromuscular symptoms in a patient with familial pseudohypoparathyroidism type Ib diagnosed by methylation-specific multiplex ligation-dependent probe amplification.
    Nagasaki K; Tsuchiya S; Saitoh A; Ogata T; Fukami M
    Endocr J; 2013; 60(2):231-6. PubMed ID: 23095209
    [TBL] [Abstract][Full Text] [Related]  

  • 34. 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]  

  • 35. Central Precocious Puberty in a Boy with Pseudohypoparathyroidism Type 1A due to a Novel
    Wankanit S; Mahachoklertwattana P; Tim-Aroon T; Sorapipatcharoen K; Poomthavorn P
    J Clin Res Pediatr Endocrinol; 2022 Dec; 14(4):485-489. PubMed ID: 34327978
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Autosomal-dominant pseudohypoparathyroidism type Ib is caused by different microdeletions within or upstream of the GNAS locus.
    Jüppner H; Linglart A; Fröhlich LF; Bastepe M
    Ann N Y Acad Sci; 2006 Apr; 1068():250-5. PubMed ID: 16831926
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Gsα activity is reduced in erythrocyte membranes of patients with psedohypoparathyroidism due to epigenetic alterations at the GNAS locus.
    Zazo C; Thiele S; Martín C; Fernandez-Rebollo E; Martinez-Indart L; Werner R; Garin I; ; Hiort O; Perez de Nanclares G
    J Bone Miner Res; 2011 Aug; 26(8):1864-70. PubMed ID: 21351142
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Clinical and genetic analysis of pseudohypoparathyroidism complicated by hypokalemia: a case report and review of the literature.
    Huang S; He Y; Lin X; Sun S; Zheng F
    BMC Endocr Disord; 2022 Apr; 22(1):98. PubMed ID: 35410271
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy.
    de Nanclares GP; Fernández-Rebollo E; Santin I; García-Cuartero B; Gaztambide S; Menéndez E; Morales MJ; Pombo M; Bilbao JR; Barros F; Zazo N; Ahrens W; Jüppner H; Hiort O; Castaño L; Bastepe M
    J Clin Endocrinol Metab; 2007 Jun; 92(6):2370-3. PubMed ID: 17405843
    [TBL] [Abstract][Full Text] [Related]  

  • 40. 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; 89(12):5942-7. PubMed ID: 15579741
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.