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(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. Urakawa T, et al. Eur J Endocrinol. 2023 Dec 6;189(6):590-600. doi: 10.1093/ejendo/lvad163. Eur J Endocrinol. 2023. PMID: 38039118
OBJECTIVE: Pseudohypoparathyroidism type 1B (PHP1B) caused by methylation defects of differentially methylated regions (DMRs) on the GNAS locus can be categorized into groups according to etiologies and methylation defect patterns of the DMRs. ...
OBJECTIVE: Pseudohypoparathyroidism type 1B (PHP1B) caused by methylation defects of differentially methylated regions …
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. Goto M, et al. Pediatr Int. 2016 Nov;58(11):1229-1231. doi: 10.1111/ped.13096. Pediatr Int. 2016. PMID: 27882740
Pseudohypoparathyroidism type 1b (PHP-1b) is usually diagnosed on various symptoms of hypocalcemia. ...
Pseudohypoparathyroidism type 1b (PHP-1b) is usually diagnosed on various symptoms of hypocalcemia. ...
An intricate case of sporadic pseudohypoparathyroidism type 1B with a review of literature.
Ramalho E Silva JD, da Rocha GFMA, Oliveira MJM. Ramalho E Silva JD, et al. Arch Endocrinol Metab. 2021 Nov 1;65(1):112-116. doi: 10.20945/2359-3997000000316. Epub 2020 Dec 15. Arch Endocrinol Metab. 2021. PMID: 33320452 Free PMC article. Review.
Biochemical and molecular analysis stratify pseudohypoparathyroidism into types 1A, 1B, 1C, and 2. We describe an unusual case of sporadic pseudohypoparathyroidism type 1B. A 34-year-old Caucasian woman was admitted to the emergency department, with persisten …
Biochemical and molecular analysis stratify pseudohypoparathyroidism into types 1A, 1B, 1C, and 2. We describe an unusual case of sporadic …
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. Keidai Y, et al. J Clin Endocrinol Metab. 2022 Feb 17;107(3):e947-e954. doi: 10.1210/clinem/dgab801. J Clin Endocrinol Metab. 2022. PMID: 34741517 Free PMC article.
CONTEXT: Sporadic pseudohypoparathyroidism type 1B (sporPHP1B) is an imprinting disease without a defined genetic cause, characterized by broad methylation changes in differentially methylated regions (DMRs) of the GNAS gene. ...
CONTEXT: Sporadic pseudohypoparathyroidism type 1B (sporPHP1B) is an imprinting disease without a defined genetic cause …
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. Vlachopapadopoulou EA, et al. J Pediatr Endocrinol Metab. 2020 Nov 26;33(11):1475-1479. doi: 10.1515/jpem-2020-0192. J Pediatr Endocrinol Metab. 2020. PMID: 33027051
Objectives The objective of this paper is to report a peculiar case of a patient with pseudohypoparathyroidism type 1b (PHP1B). Pseudohypoparathyroidism (PHP) refers to a group of disorders characterized by hypocalcemia, hyperphosphatemia, and elevated parath …
Objectives The objective of this paper is to report a peculiar case of a patient with pseudohypoparathyroidism type 1b …
Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith-Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances.
Pignata L, Cecere F, Verma A, Hay Mele B, Monticelli M, Acurzio B, Giaccari C, Sparago A, Hernandez Mora JR, Monteagudo-Sánchez A, Esteller M, Pereda A, Tenorio-Castano J, Palumbo O, Carella M, Prontera P, Piscopo C, Accadia M, Lapunzina P, Cubellis MV, de Nanclares GP, Monk D, Riccio A, Cerrato F. Pignata L, et al. Clin Epigenetics. 2022 May 28;14(1):71. doi: 10.1186/s13148-022-01292-w. Clin Epigenetics. 2022. PMID: 35643636 Free PMC article.
BACKGROUND: Beckwith-Wiedemann syndrome (BWS) and Pseudohypoparathyroidism type 1B (PHP1B) are imprinting disorders (ID) caused by deregulation of the imprinted gene clusters located at 11p15.5 and 20q13.32, respectively. ...
BACKGROUND: Beckwith-Wiedemann syndrome (BWS) and Pseudohypoparathyroidism type 1B (PHP1B) are imprinting disorders (ID …
Pseudohypoparathyroidism type 1B associated with assisted reproductive technology.
Fernandez M, Zambrano MJ, Riquelme J, Castiglioni C, Kottler ML, Jüppner H, Mericq V. Fernandez M, et al. J Pediatr Endocrinol Metab. 2017 Oct 26;30(10):1125-1132. doi: 10.1515/jpem-2017-0226. J Pediatr Endocrinol Metab. 2017. PMID: 28902630 Free PMC article.
Maternal loss-of-methylation at GNAS exon A/B, observed in pseudohypoparathyroidism type 1b (PHP1B), leads to decreased expression of the stimulatory Gsalpha. ...
Maternal loss-of-methylation at GNAS exon A/B, observed in pseudohypoparathyroidism type 1b (PHP1B), leads to decreased …
Novel multilocus imprinting disturbances in a child with expressive language delay and intellectual disability.
Tayeh MK, DeVaul J, LeSueur K, Yang C, Bedoyan JK, Thomas P, Hannibal MC, Innis JW. Tayeh MK, et al. Am J Med Genet A. 2022 Jul;188(7):2209-2216. doi: 10.1002/ajmg.a.62752. Epub 2022 Apr 1. Am J Med Genet A. 2022. PMID: 35365979 Free PMC article.
Multilocus imprinting disturbances (MLID) have been associated with up to 12% of patients with Beckwith-Wiedemann syndrome, Silver-Russell syndrome, and pseudohypoparathyroidism type 1B (PHP1B). Single-gene defects affecting components of the subcortical mate …
Multilocus imprinting disturbances (MLID) have been associated with up to 12% of patients with Beckwith-Wiedemann syndrome, Silver-Russell s …
Pseudohypoparathyroidism type 1b due to paternal uniparental disomy of chromosome 20q.
Dixit A, Chandler KE, Lever M, Poole RL, Bullman H, Mughal MZ, Steggall M, Suri M. Dixit A, et al. J Clin Endocrinol Metab. 2013 Jan;98(1):E103-8. doi: 10.1210/jc.2012-2639. Epub 2012 Nov 8. J Clin Endocrinol Metab. 2013. PMID: 23144470 Review.
CONTEXT: Pseudohypoparathyroidism type 1b (PHP1b) is the result of end-organ resistance to PTH and other hormones such as TSH in the absence of any features of Albright's hereditary osteodystrophy. ...
CONTEXT: Pseudohypoparathyroidism type 1b (PHP1b) is the result of end-organ resistance to PTH and other hormones such …
37 results