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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: sharma a. 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.
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: sharma a. 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.
Hypoplastic Metatarsals--Beyond Cosmesis.
Sharma A, Phillips AJ, Jüppner H. Sharma A, et al. N Engl J Med. 2015 Nov 26;373(22):2189-90. doi: 10.1056/NEJMc1508520. N Engl J Med. 2015. PMID: 26605941 Free PMC article. No abstract available.
Fanconi-Bickel syndrome and autosomal recessive proximal tubulopathy with hypercalciuria (ARPTH) are allelic variants caused by GLUT2 mutations.
Mannstadt M, Magen D, Segawa H, Stanley T, Sharma A, Sasaki S, Bergwitz C, Mounien L, Boepple P, Thorens B, Zelikovic I, Jüppner H. Mannstadt M, et al. Among authors: sharma a. J Clin Endocrinol Metab. 2012 Oct;97(10):E1978-86. doi: 10.1210/jc.2012-1279. Epub 2012 Aug 3. J Clin Endocrinol Metab. 2012. PMID: 22865906 Free PMC article.
Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development.
Vivante A, Kleppa MJ, Schulz J, Kohl S, Sharma A, Chen J, Shril S, Hwang DY, Weiss AC, Kaminski MM, Shukrun R, Kemper MJ, Lehnhardt A, Beetz R, Sanna-Cherchi S, Verbitsky M, Gharavi AG, Stuart HM, Feather SA, Goodship JA, Goodship TH, Woolf AS, Westra SJ, Doody DP, Bauer SB, Lee RS, Adam RM, Lu W, Reutter HM, Kehinde EO, Mancini EJ, Lifton RP, Tasic V, Lienkamp SS, Jüppner H, Kispert A, Hildebrandt F. Vivante A, et al. Among authors: sharma a. Am J Hum Genet. 2015 Aug 6;97(2):291-301. doi: 10.1016/j.ajhg.2015.07.001. Epub 2015 Jul 30. Am J Hum Genet. 2015. PMID: 26235987 Free PMC article.
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