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 *

304 related articles for article (PubMed ID: 23649963)

  • 1. Simultaneous hyper- and hypomethylation at imprinted loci in a subset of patients with GNAS epimutations underlies a complex and different mechanism of multilocus methylation defect in pseudohypoparathyroidism type 1b.
    Maupetit-Méhouas S; Azzi S; Steunou V; Sakakini N; Silve C; Reynes C; Perez de Nanclares G; Keren B; Chantot S; Barlier A; Linglart A; Netchine I
    Hum Mutat; 2013 Aug; 34(8):1172-80. PubMed ID: 23649963
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci.
    Azzi S; Rossignol S; Steunou V; Sas T; Thibaud N; Danton F; Le Jule M; Heinrichs C; Cabrol S; Gicquel C; Le Bouc Y; Netchine I
    Hum Mol Genet; 2009 Dec; 18(24):4724-33. PubMed ID: 19755383
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus.
    Perez-Nanclares G; Romanelli V; Mayo S; Garin I; Zazo Seco C; Fernandez-Rebollo E; Martínez F; Lapunzina P; de Nanclares GP;
    J Clin Endocrinol Metab; 2012 Jun; 97(6):E1060-7. PubMed ID: 22492776
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The GNAS locus and pseudohypoparathyroidism.
    Bastepe M
    Adv Exp Med Biol; 2008; 626():27-40. PubMed ID: 18372789
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. A new deletion ablating NESP55 causes loss of maternal imprint of A/B GNAS and autosomal dominant pseudohypoparathyroidism type Ib.
    Richard N; Abeguilé G; Coudray N; Mittre H; Gruchy N; Andrieux J; Cathebras P; Kottler ML
    J Clin Endocrinol Metab; 2012 May; 97(5):E863-7. PubMed ID: 22378814
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Targeted deletion of the Nesp55 DMR defines another Gnas imprinting control region and provides a mouse model of autosomal dominant PHP-Ib.
    Fröhlich LF; Mrakovcic M; Steinborn R; Chung UI; Bastepe M; Jüppner H
    Proc Natl Acad Sci U S A; 2010 May; 107(20):9275-80. PubMed ID: 20427744
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome.
    Bliek J; Verde G; Callaway J; Maas SM; De Crescenzo A; Sparago A; Cerrato F; Russo S; Ferraiuolo S; Rinaldi MM; Fischetto R; Lalatta F; Giordano L; Ferrari P; Cubellis MV; Larizza L; Temple IK; Mannens MM; Mackay DJ; Riccio A
    Eur J Hum Genet; 2009 May; 17(5):611-9. PubMed ID: 19092779
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gs{alpha} coding mutations and GNAS imprinting defects.
    Lecumberri B; Fernández-Rebollo E; Sentchordi L; Saavedra P; Bernal-Chico A; Pallardo LF; Bustos JM; Castaño L; de Santiago M; Hiort O; Pérez de Nanclares G; Bastepe M
    J Med Genet; 2010 Apr; 47(4):276-80. PubMed ID: 19858129
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Recent advances in GNAS epigenetic research of pseudohypoparathyroidism.
    Izzi B; Van Geet C; Freson K
    Curr Mol Med; 2012 Jun; 12(5):566-73. PubMed ID: 22300135
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Different pattern of epigenetic changes of the GNAS gene locus in patients with pseudohypoparathyroidism type Ic confirm the heterogeneity of underlying pathomechanisms in this subgroup of pseudohypoparathyroidism and the demand for a new classification of GNAS-related disorders.
    Brix B; Werner R; Staedt P; Struve D; Hiort O; Thiele S
    J Clin Endocrinol Metab; 2014 Aug; 99(8):E1564-70. PubMed ID: 24878042
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.