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CACP, encoding a secreted proteoglycan, is mutated in camptodactyly-arthropathy-coxa vara-pericarditis syndrome.
Marcelino J, Carpten JD, Suwairi WM, Gutierrez OM, Schwartz S, Robbins C, Sood R, Makalowska I, Baxevanis A, Johnstone B, Laxer RM, Zemel L, Kim CA, Herd JK, Ihle J, Williams C, Johnson M, Raman V, Alonso LG, Brunoni D, Gerstein A, Papadopoulos N, Bahabri SA, Trent JM, Warman ML. Marcelino J, et al. Among authors: raman v. Nat Genet. 1999 Nov;23(3):319-22. doi: 10.1038/15496. Nat Genet. 1999. PMID: 10545950
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.
Burrage LC, Reynolds JJ, Baratang NV, Phillips JB, Wegner J, McFarquhar A, Higgs MR, Christiansen AE, Lanza DG, Seavitt JR, Jain M, Li X, Parry DA, Raman V, Chitayat D, Chinn IK, Bertuch AA, Karaviti L, Schlesinger AE, Earl D, Bamshad M, Savarirayan R, Doddapaneni H, Muzny D, Jhangiani SN, Eng CM, Gibbs RA, Bi W, Emrick L, Rosenfeld JA, Postlethwait J, Westerfield M, Dickinson ME, Beaudet AL, Ranza E, Huber C, Cormier-Daire V, Shen W, Mao R, Heaney JD, Orange JS; University of Washington Center for Mendelian Genomics; Undiagnosed Diseases Network; Bertola D, Yamamoto GL, Baratela WAR, Butler MG, Ali A, Adeli M, Cohn DH, Krakow D, Jackson AP, Lees M, Offiah AC, Carlston CM, Carey JC, Stewart GS, Bacino CA, Campeau PM, Lee B. Burrage LC, et al. Among authors: raman v. Am J Hum Genet. 2019 Mar 7;104(3):422-438. doi: 10.1016/j.ajhg.2019.01.007. Epub 2019 Feb 14. Am J Hum Genet. 2019. PMID: 30773277 Free PMC article.
Most youth with type 1 diabetes in the T1D Exchange Clinic Registry do not meet American Diabetes Association or International Society for Pediatric and Adolescent Diabetes clinical guidelines.
Wood JR, Miller KM, Maahs DM, Beck RW, DiMeglio LA, Libman IM, Quinn M, Tamborlane WV, Woerner SE; T1D Exchange Clinic Network. Wood JR, et al. Diabetes Care. 2013 Jul;36(7):2035-7. doi: 10.2337/dc12-1959. Epub 2013 Jan 22. Diabetes Care. 2013. PMID: 23340893 Free PMC article.
Metabolic syndrome in children and adolescents.
Al-Hamad D, Raman V. Al-Hamad D, et al. Among authors: raman v. Transl Pediatr. 2017 Oct;6(4):397-407. doi: 10.21037/tp.2017.10.02. Transl Pediatr. 2017. PMID: 29184820 Free PMC article. Review.
Insulin pump use in young children in the T1D Exchange clinic registry is associated with lower hemoglobin A1c levels than injection therapy.
Blackman SM, Raghinaru D, Adi S, Simmons JH, Ebner-Lyon L, Chase HP, Tamborlane WV, Schatz DA, Block JM, Litton JC, Raman V, Foster NC, Kollman CR, DuBose SN, Miller KM, Beck RW, DiMeglio LA. Blackman SM, et al. Among authors: raman v. Pediatr Diabetes. 2014 Dec;15(8):564-72. doi: 10.1111/pedi.12121. Epub 2014 Feb 4. Pediatr Diabetes. 2014. PMID: 24494980
Longitudinal Changes in Continuous Glucose Monitoring Use Among Individuals With Type 1 Diabetes: International Comparison in the German and Austrian DPV and U.S. T1D Exchange Registries.
Miller KM, Hermann J, Foster N, Hofer SE, Rickels MR, Danne T, Clements MA, Lilienthal E, Maahs DM, Holl RW; T1D Exchange and DPV Registries. Miller KM, et al. Diabetes Care. 2020 Jan;43(1):e1-e2. doi: 10.2337/dc19-1214. Epub 2019 Oct 31. Diabetes Care. 2020. PMID: 31672703 Free PMC article. No abstract available.
647 results