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Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis.
Dasgupta D, Wee MJ, Reyes M, Li Y, Simm PJ, Sharma A, Schlingmann KP, Janner M, Biggin A, Lazier J, Gessner M, Chrysis D, Tuchman S, Baluarte HJ, Levine MA, Tiosano D, Insogna K, Hanley DA, Carpenter TO, Ichikawa S, Hoppe B, Konrad M, Sävendahl L, Munns CF, Lee H, Jüppner H, Bergwitz C. Dasgupta D, et al. Among authors: reyes m. J Am Soc Nephrol. 2014 Oct;25(10):2366-75. doi: 10.1681/ASN.2013101085. Epub 2014 Apr 3. J Am Soc Nephrol. 2014. PMID: 24700880 Free PMC article.
Loss of XLαs (extra-large αs) imprinting results in early postnatal hypoglycemia and lethality in a mouse model of pseudohypoparathyroidism Ib.
Fernández-Rebollo E, Maeda A, Reyes M, Turan S, Fröhlich LF, Plagge A, Kelsey G, Jüppner H, Bastepe M. Fernández-Rebollo E, et al. Among authors: reyes m. Proc Natl Acad Sci U S A. 2012 Apr 24;109(17):6638-43. doi: 10.1073/pnas.1117608109. Epub 2012 Apr 10. Proc Natl Acad Sci U S A. 2012. PMID: 22496590 Free PMC article.
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. Takatani R, et al. Among authors: reyes m. Bone. 2015 Oct;79:15-20. doi: 10.1016/j.bone.2015.05.011. Epub 2015 May 19. Bone. 2015. PMID: 25997889 Free PMC article.
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. Takatani R, et al. Among authors: reyes m. J Bone Miner Res. 2016 Apr;31(4):796-805. doi: 10.1002/jbmr.2731. Epub 2015 Nov 14. J Bone Miner Res. 2016. PMID: 26479409 Free PMC article. Clinical Trial.
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. Grigelioniene G, et al. Among authors: reyes m. J Bone Miner Res. 2017 Apr;32(4):776-783. doi: 10.1002/jbmr.3083. Epub 2017 Feb 24. J Bone Miner Res. 2017. PMID: 28084650 Free PMC article.
1,621 results