497 related articles for article (PubMed ID: 26479409)
1. 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]
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. Similar frequency of paternal uniparental disomy involving chromosome 20q (patUPD20q) in Japanese and Caucasian patients affected by sporadic pseudohypoparathyroidism type Ib (sporPHP1B).
Takatani R; Minagawa M; Molinaro A; Reyes M; Kinoshita K; Takatani T; Kazukawa I; Nagatsuma M; Kashimada K; Sato K; Matsushita K; Nomura F; Shimojo N; Jüppner H
Bone; 2015 Oct; 79():15-20. PubMed ID: 25997889
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Pseudohypoparathyroidism: complex disease variants with unfortunate names.
Jüppner H
J Mol Endocrinol; 2024 Jan; 72(1):. PubMed ID: 37965945
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Lack of GNAS Remethylation During Oogenesis May Be a Cause of Sporadic Pseudohypoparathyroidism Type Ib.
Milioto A; Reyes M; Hanna P; Kiuchi Z; Turan S; Zeve D; Agarwal C; Grigelioniene G; Chen A; Mericq V; Frangos M; Ten S; Mantovani G; Salusky IB; Tebben P; Jüppner H
J Clin Endocrinol Metab; 2022 Mar; 107(4):e1610-e1619. PubMed ID: 34791361
[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. Pseudohypoparathyroidism: one gene, several syndromes.
Tafaj O; Jüppner H
J Endocrinol Invest; 2017 Apr; 40(4):347-356. PubMed ID: 27995443
[TBL] [Abstract][Full Text] [Related]
10. Lack of Gnas epigenetic changes and pseudohypoparathyroidism type Ib in mice with targeted disruption of syntaxin-16.
Fröhlich LF; Bastepe M; Ozturk D; Abu-Zahra H; Jüppner H
Endocrinology; 2007 Jun; 148(6):2925-35. PubMed ID: 17317779
[TBL] [Abstract][Full Text] [Related]
11. Preferential Maternal Transmission of STX16-GNAS Mutations Responsible for Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B): Another Example of Transmission Ratio Distortion.
Kiuchi Z; Reyes M; Jüppner H
J Bone Miner Res; 2021 Apr; 36(4):696-703. PubMed ID: 33247854
[TBL] [Abstract][Full Text] [Related]
12. A novel deletion involving the first GNAS exon encoding Gsα causes PHP1A without methylation changes at exon A/B.
Campbell D; Reyes M; Kaygusuz SB; Abali S; Guran T; Bereket A; Kagami M; Turan S; Jüppner H
Bone; 2022 Apr; 157():116344. PubMed ID: 35104666
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. 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]
16. 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]
17. Loss of methylation at GNAS exon A/B is associated with increased intrauterine growth.
Bréhin AC; Colson C; Maupetit-Méhouas S; Grybek V; Richard N; Linglart A; Kottler ML; Jüppner H
J Clin Endocrinol Metab; 2015 Apr; 100(4):E623-31. PubMed ID: 25603460
[TBL] [Abstract][Full Text] [Related]
18. Early-Onset Obesity: Unrecognized First Evidence for GNAS Mutations and Methylation Changes.
Grüters-Kieslich A; Reyes M; Sharma A; Demirci C; DeClue TJ; Lankes E; Tiosano D; Schnabel D; Jüppner H
J Clin Endocrinol Metab; 2017 Aug; 102(8):2670-2677. PubMed ID: 28453643
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Neuromuscular symptoms in a patient with familial pseudohypoparathyroidism type Ib diagnosed by methylation-specific multiplex ligation-dependent probe amplification.
Nagasaki K; Tsuchiya S; Saitoh A; Ogata T; Fukami M
Endocr J; 2013; 60(2):231-6. PubMed ID: 23095209
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
