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 *

156 related articles for article (PubMed ID: 38017366)

  • 1. A Case of Pseudohypoparathyroidism Misdiagnosed as Idiopathic Epilepsy for 5 Years: Clinical Analysis and Follow-up Outcomes.
    Dai LZ; Lin C; Lei R; Zhang Y; Ma H
    J Int Med Res; 2023 Nov; 51(11):3000605231215202. PubMed ID: 38017366
    [TBL] [Abstract][Full Text] [Related]  

  • 2. PCR-based analysis of differentially methylated regions of GNAS enables convenient diagnostic testing of pseudohypoparathyroidism type Ib.
    Weinhaeusel A; Thiele S; Hofner M; Hiort O; Noehammer C
    Clin Chem; 2008 Sep; 54(9):1537-45. PubMed ID: 18617581
    [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. 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]  

  • 5. 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]  

  • 6. Pseudohypoparathyroidism type 1B (PHP1B), a rare disorder encountered in adolescence.
    Vlachopapadopoulou EA; Anagnostou E; Dikaiakou E; Hanna P; Tsolia M; Michalacos S; Linglart A; Karavanaki K
    J Pediatr Endocrinol Metab; 2020 Nov; 33(11):1475-1479. PubMed ID: 33027051
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9. Paroxysmal dyskinesia and epilepsy in pseudohypoparathyroidism.
    Zhang C; Zhou X; Feng M; Yue W
    Mol Genet Genomic Med; 2020 Oct; 8(10):e1423. PubMed ID: 32715645
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 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. 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]  

  • 16. Identification of a novel mutation in pseudohypoparathyroidism type Ia in a Chinese family: A case report.
    Tang Y; Zheng F; Lin X; Pan Q; Li L; Li H
    Medicine (Baltimore); 2020 May; 99(21):e19965. PubMed ID: 32481259
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. Pseudohypoparathyroidism type 1B caused by methylation changes at the GNAS complex locus.
    Poradosu S; Bravenboer B; Takatani R; Jüppner H
    BMJ Case Rep; 2016 May; 2016():. PubMed ID: 27170606
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 8.