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 *

235 related articles for article (PubMed ID: 27253667)

  • 1. Complex Genomic Rearrangement Within the GNAS Region Associated With Familial Pseudohypoparathyroidism Type 1b.
    Nakamura A; Hamaguchi E; Horikawa R; Nishimura Y; Matsubara K; Sano S; Nagasaki K; Matsubara Y; Umezawa A; Tajima T; Ogata T; Kagami M; Okamura K; Fukami M
    J Clin Endocrinol Metab; 2016 Jul; 101(7):2623-7. PubMed ID: 27253667
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Familial Pseudohypoparathyroidism Type IB Associated with an SVA Retrotransposon Insertion in the GNAS Locus.
    Kawashima S; Yuno A; Sano S; Nakamura A; Ishiwata K; Kawasaki T; Hosomichi K; Nakabayashi K; Akutsu H; Saitsu H; Fukami M; Usui T; Ogata T; Kagami M
    J Bone Miner Res; 2022 Oct; 37(10):1850-1859. PubMed ID: 35859320
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A Novel Familial PHP1B Variant With Incomplete Loss of Methylation at GNAS-A/B and Enhanced Methylation at GNAS-AS2.
    Hanna P; Francou B; Delemer B; Jüppner H; Linglart A
    J Clin Endocrinol Metab; 2021 Aug; 106(9):2779-2787. PubMed ID: 33677588
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

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

  • 9. 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]  

  • 10. Distinct patterns of abnormal GNAS imprinting in familial and sporadic pseudohypoparathyroidism type IB.
    Liu J; Nealon JG; Weinstein LS
    Hum Mol Genet; 2005 Jan; 14(1):95-102. PubMed ID: 15537666
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. Genetic and Epigenetic Characteristics of Autosomal Dominant Pseudohypoparathyroidism Type 1B: Case Reports and Literature Review.
    Luo D; Qi X; Liu L; Su Y; Fang L; Guan Q
    Horm Metab Res; 2021 Apr; 53(4):225-235. PubMed ID: 33513624
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Molecular Definition of Pseudohypoparathyroidism Variants.
    Jüppner H
    J Clin Endocrinol Metab; 2021 May; 106(6):1541-1552. PubMed ID: 33529330
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 17.
    Chen L; Yang C; Zhang X; Chen B; Zheng P; Li T; Song W; Gao H; Yue X; Yang J
    J Pediatr Endocrinol Metab; 2024 Aug; 37(8):734-740. PubMed ID: 39026465
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Sporadic pseudohypoparathyroidism type-1b with asymptomatic hypocalcemia.
    Goto M; Yamamoto Y; Ishii M; Nakamura A; Sano S; Kagami M; Fukami M; Saito R; Araki S; Kubo K; Kawagoe R; Kawada Y; Kusuhara K
    Pediatr Int; 2016 Nov; 58(11):1229-1231. PubMed ID: 27882740
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Analysis of Multiple Families With Single Individuals Affected by Pseudohypoparathyroidism Type Ib (PHP1B) Reveals Only One Novel Maternally Inherited GNAS Deletion.
    Takatani R; Molinaro A; Grigelioniene G; Tafaj O; Watanabe T; Reyes M; Sharma A; Singhal V; Raymond FL; Linglart A; Jüppner H
    J Bone Miner Res; 2016 Apr; 31(4):796-805. PubMed ID: 26479409
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Intragenic GNAS deletion involving exon A/B in pseudohypoparathyroidism type 1A resulting in an apparent loss of exon A/B methylation: potential for misdiagnosis of pseudohypoparathyroidism type 1B.
    Fernandez-Rebollo E; García-Cuartero B; Garin I; Largo C; Martínez F; Garcia-Lacalle C; Castaño L; Bastepe M; Pérez de Nanclares G
    J Clin Endocrinol Metab; 2010 Feb; 95(2):765-71. PubMed ID: 20008020
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.