BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

196 related articles for article (PubMed ID: 20807523)

  • 21. A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B).
    Grigelioniene G; Nevalainen PI; Reyes M; Thiele S; Tafaj O; Molinaro A; Takatani R; Ala-Houhala M; Nilsson D; Eisfeldt J; Lindstrand A; Kottler ML; Mäkitie O; Jüppner H
    J Bone Miner Res; 2017 Apr; 32(4):776-783. PubMed ID: 28084650
    [TBL] [Abstract][Full Text] [Related]  

  • 22. A Girl With Beckwith-Wiedemann Syndrome and Pseudohypoparathyroidism Type 1B Due to Multiple Imprinting Defects.
    Bakker B; Sonneveld LJ; Woltering MC; Bikker H; Kant SG
    J Clin Endocrinol Metab; 2015 Nov; 100(11):3963-6. PubMed ID: 26367199
    [TBL] [Abstract][Full Text] [Related]  

  • 23. 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]  

  • 24. Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib.
    Maupetit-Méhouas S; Mariot V; Reynès C; Bertrand G; Feillet F; Carel JC; Simon D; Bihan H; Gajdos V; Devouge E; Shenoy S; Agbo-Kpati P; Ronan A; Naud-Saudreau C; Lienhardt A; Silve C; Linglart A
    J Med Genet; 2011 Jan; 48(1):55-63. PubMed ID: 20972248
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Deletion of the noncoding GNAS antisense transcript causes pseudohypoparathyroidism type Ib and biparental defects of GNAS methylation in cis.
    Chillambhi S; Turan S; Hwang DY; Chen HC; Jüppner H; Bastepe M
    J Clin Endocrinol Metab; 2010 Aug; 95(8):3993-4002. PubMed ID: 20444925
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Pseudohypoparathyroidism type Ib with disturbed imprinting in the GNAS1 cluster and Gsalpha deficiency in platelets.
    Freson K; Thys C; Wittevrongel C; Proesmans W; Hoylaerts MF; Vermylen J; Van Geet C
    Hum Mol Genet; 2002 Oct; 11(22):2741-50. PubMed ID: 12374764
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Mosaicism for GNAS methylation defects associated with pseudohypoparathyroidism type 1B arose in early post-zygotic phases.
    Elli FM; Bordogna P; Arosio M; Spada A; Mantovani G
    Clin Epigenetics; 2018; 10():16. PubMed ID: 29445425
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Intragenic Deletions of GNAS in Pseudohypoparathyroidism Type 1A Identify a New Region Affecting Methylation of Exon A/B.
    Li D; Bupp C; March ME; Hakonarson H; Levine MA
    J Clin Endocrinol Metab; 2020 Sep; 105(9):e3197-206. PubMed ID: 32436958
    [TBL] [Abstract][Full Text] [Related]  

  • 29. 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]  

  • 30. A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS.
    Linglart A; Gensure RC; Olney RC; Jüppner H; Bastepe M
    Am J Hum Genet; 2005 May; 76(5):804-14. PubMed ID: 15800843
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Clinical and genetic characterization of Portuguese patients with pseudohypoparathyroidism type Ib.
    Cavaco BM; Tomaz RA; Fonseca F; Mascarenhas MR; Leite V; Sobrinho LG
    Endocrine; 2010 Jun; 37(3):408-14. PubMed ID: 20960161
    [TBL] [Abstract][Full Text] [Related]  

  • 32. A novel long-range deletion spanning STX16 and NPEPL1 causing imprinting defects of the GNAS locus discovered in a patient with autosomal-dominant pseudohypoparathyroidism type 1B.
    Yang Y; Chu X; Nie M; Song A; Jiang Y; Li M; Xia W; Xing X; Wang O
    Endocrine; 2020 Jul; 69(1):212-219. PubMed ID: 32337648
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Similar frequency of paternal uniparental disomy involving chromosome 20q (patUPD20q) in Japanese and Caucasian patients affected by sporadic pseudohypoparathyroidism type Ib (sporPHP1B).
    Takatani R; Minagawa M; Molinaro A; Reyes M; Kinoshita K; Takatani T; Kazukawa I; Nagatsuma M; Kashimada K; Sato K; Matsushita K; Nomura F; Shimojo N; Jüppner H
    Bone; 2015 Oct; 79():15-20. PubMed ID: 25997889
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Sporadic Pseudohypoparathyroidism Type 1B in Monozygotic Twins: Insights Into the Pathogenesis of Methylation Defects.
    Keidai Y; Iwasaki Y; Iwasaki K; Honjo S; Bastepe M; Hamasaki A
    J Clin Endocrinol Metab; 2022 Feb; 107(3):e947-e954. PubMed ID: 34741517
    [TBL] [Abstract][Full Text] [Related]  

  • 35. The long-range interaction between two GNAS imprinting control regions delineates pseudohypoparathyroidism type 1B pathogenesis.
    Iwasaki Y; Aksu C; Reyes M; Ay B; He Q; Bastepe M
    J Clin Invest; 2023 Apr; 133(8):. PubMed ID: 36853809
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Preferential Maternal Transmission of STX16-GNAS Mutations Responsible for Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B): Another Example of Transmission Ratio Distortion.
    Kiuchi Z; Reyes M; Jüppner H
    J Bone Miner Res; 2021 Apr; 36(4):696-703. PubMed ID: 33247854
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Genetic analysis and evaluation of resistance to thyrotropin and growth hormone-releasing hormone in pseudohypoparathyroidism type Ib.
    Mantovani G; Bondioni S; Linglart A; Maghnie M; Cisternino M; Corbetta S; Lania AG; Beck-Peccoz P; Spada A
    J Clin Endocrinol Metab; 2007 Sep; 92(9):3738-42. PubMed ID: 17595244
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Association of GNAS imprinting defects and deletions of chromosome 2 in two patients: clues explaining phenotypic heterogeneity in pseudohypoparathyroidism type 1B/iPPSD3.
    Elli FM; deSanctis L; Maffini MA; Bordogna P; Tessaris D; Pirelli A; Arosio M; Linglart A; Mantovani G
    Clin Epigenetics; 2019 Jan; 11(1):3. PubMed ID: 30616679
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Targeted Long-Read Sequencing Identifies a Retrotransposon Insertion as a Cause of Altered GNAS Exon A/B Methylation in a Family With Autosomal Dominant Pseudohypoparathyroidism Type 1b (PHP1B).
    Miller DE; Hanna P; Galey M; Reyes M; Linglart A; Eichler EE; Jüppner H
    J Bone Miner Res; 2022 Sep; 37(9):1711-1719. PubMed ID: 35811283
    [TBL] [Abstract][Full Text] [Related]  

  • 40. 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]  

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