140 related articles for article (PubMed ID: 29445425)
1. 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]
2. Genetic and Epigenetic Defects at the GNAS Locus Lead to Distinct Patterns of Skeletal Growth but Similar Early-Onset Obesity.
Hanna P; Grybek V; Perez de Nanclares G; Tran LC; de Sanctis L; Elli F; Errea J; Francou B; Kamenicky P; Linglart L; Pereda A; Rothenbuhler A; Tessaris D; Thiele S; Usardi A; Shoemaker AH; Kottler ML; Jüppner H; Mantovani G; Linglart A
J Bone Miner Res; 2018 Aug; 33(8):1480-1488. PubMed ID: 29693731
[TBL] [Abstract][Full Text] [Related]
3. Pseudohypoparathyroidism: complex disease variants with unfortunate names.
Jüppner H
J Mol Endocrinol; 2024 Jan; 72(1):. PubMed ID: 37965945
[TBL] [Abstract][Full Text] [Related]
4. (Epi)genetic and clinical characteristics in 84 patients with pseudohypoparathyroidism type 1B.
Urakawa T; Sano S; Kawashima S; Nakamura A; Shima H; Ohta M; Yamada Y; Nishida A; Narusawa H; Ohtsu Y; Matsubara K; Dateki S; Maruo Y; Fukami M; Ogata T; Kagami M
Eur J Endocrinol; 2023 Dec; 189(6):590-600. PubMed ID: 38039118
[TBL] [Abstract][Full Text] [Related]
5. GNAS AS2 methylation status enables mechanism-based categorization of pseudohypoparathyroidism type 1B.
Iwasaki Y; Reyes M; Jüppner H; Bastepe M
JCI Insight; 2024 Mar; 9(5):. PubMed ID: 38290008
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. Identification of a novel GNAS mutation in a family with pseudohypoparathyroidism type 1A.
Sippelli F; Briuglia S; Ferraloro C; Capra AP; Agolini E; Abbate T; Pepe G; Aversa T; Wasniewska M; Corica D
BMC Pediatr; 2024 Apr; 24(1):271. PubMed ID: 38664677
[TBL] [Abstract][Full Text] [Related]
9. Intrafamilial phenotypic heterogeneity in siblings with pseudohypoparathyroidism 1B due to maternal
Odom J; Bacino CA; Karaviti LP; Bi W; Hoyos-Martinez A
J Pediatr Endocrinol Metab; 2024 Jan; 37(1):84-89. PubMed ID: 38095637
[TBL] [Abstract][Full Text] [Related]
10. Hypercalcitoninaemia in pseudohypo-parathyroidism type 1A and type 1B.
Yavropoulou MP; Chronopoulos E; Trovas G; Avramidis E; Elli FM; Mantovani G; Zebekakis P; Yovos JG
Endocrinol Diabetes Metab Case Rep; 2019 Jan; 2019():. PubMed ID: 30703064
[TBL] [Abstract][Full Text] [Related]
11. Clinical and genetic characteristics for 4 patients with Type Ib pseudohypoparathyroidism.
Wang Y; Yang W; Jin P; Zhao L; He H
Zhong Nan Da Xue Xue Bao Yi Xue Ban; 2022 Oct; 47(10):1461-1466. PubMed ID: 36411698
[TBL] [Abstract][Full Text] [Related]
12. Genotype-phenotype correlations in pseudohypoparathyroidism type 1a patients: a systemic review.
Jiang S; Yang Y; Song A; Jiang Y; Jiang Y; Li M; Xia W; Nie M; Wang O; Xing X
Eur J Endocrinol; 2023 Nov; 189(5):S103-S111. PubMed ID: 37837607
[TBL] [Abstract][Full Text] [Related]
13. Maternal Imprinting in Pseudohypoparathyroidism - A Very Rare GNAS Gene Mutation Follows the Pattern.
Monica CS; Karunakar P; Shivaprasad M; Deepthi B; Gulati R
Indian J Pediatr; 2024 Jan; 91(1):95. PubMed ID: 37548842
[No Abstract] [Full Text] [Related]
14. Glucose Homeostasis and Energy Balance in Children With Pseudohypoparathyroidism.
Perez KM; Curley KL; Slaughter JC; Shoemaker AH
J Clin Endocrinol Metab; 2018 Nov; 103(11):4265-4274. PubMed ID: 30085125
[TBL] [Abstract][Full Text] [Related]
15. 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]
16.
Yang W; Zuo Y; Zhang N; Wang K; Zhang R; Chen Z; He Q
Front Endocrinol (Lausanne); 2023; 14():1255864. PubMed ID: 37920253
[No Abstract] [Full Text] [Related]
17. 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]
18. Prevalence of Chiari malformation type 1 is increased in pseudohypoparathyroidism type 1A and associated with aberrant bone development.
Krishnan N; McMullan P; Yang Q; Buscarello AN; Germain-Lee EL
PLoS One; 2023; 18(1):e0280463. PubMed ID: 36662765
[TBL] [Abstract][Full Text] [Related]
19. Diagnosis and approach of pseudohypoparathyroidism type 1A and related disorders during long term follow-up: a case report.
Expósito Raspeño M; Sánchez Escudero V; Pérez de Nanclares Leal G; Ortiz Santamaría M; Sánchez-Dehesa Sáez R; García Cuartero B; González Vergaz A
J Pediatr Endocrinol Metab; 2024 Mar; 37(3):289-295. PubMed ID: 38353264
[TBL] [Abstract][Full Text] [Related]
20. The role of genetic and epigenetic GNAS alterations in the development of early-onset obesity.
Abbas A; Hammad AS; Al-Shafai M
Mutat Res Rev Mutat Res; 2024; 793():108487. PubMed ID: 38103632
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
