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2015 1
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Page 1
Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations.
Northrup H, Aronow ME, Bebin EM, Bissler J, Darling TN, de Vries PJ, Frost MD, Fuchs Z, Gosnell ES, Gupta N, Jansen AC, Jóźwiak S, Kingswood JC, Knilans TK, McCormack FX, Pounders A, Roberds SL, Rodriguez-Buritica DF, Roth J, Sampson JR, Sparagana S, Thiele EA, Weiner HL, Wheless JW, Towbin AJ, Krueger DA; International Tuberous Sclerosis Complex Consensus Group. Northrup H, et al. Among authors: rodriguez buritica df. Pediatr Neurol. 2021 Oct;123:50-66. doi: 10.1016/j.pediatrneurol.2021.07.011. Epub 2021 Jul 24. Pediatr Neurol. 2021. PMID: 34399110 Free article.
Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs.
Derks TGJ, Rodriguez-Buritica DF, Ahmad A, de Boer F, Couce ML, Grünert SC, Labrune P, López Maldonado N, Fischinger Moura de Souza C, Riba-Wolman R, Rossi A, Saavedra H, Gupta RN, Valayannopoulos V, Mitchell J. Derks TGJ, et al. Among authors: rodriguez buritica df. Nutrients. 2021 Oct 27;13(11):3828. doi: 10.3390/nu13113828. Nutrients. 2021. PMID: 34836082 Free PMC article. Review.
Growth in achondroplasia including stature, weight, weight-for-height and head circumference from CLARITY: achondroplasia natural history study-a multi-center retrospective cohort study of achondroplasia in the US.
Hoover-Fong JE, Schulze KJ, Alade AY, Bober MB, Gough E, Hashmi SS, Hecht JT, Legare JM, Little ME, Modaff P, Pauli RM, Rodriguez-Buritica DF, Serna ME, Smid C, Liu C, McGready J. Hoover-Fong JE, et al. Among authors: rodriguez buritica df. Orphanet J Rare Dis. 2021 Dec 23;16(1):522. doi: 10.1186/s13023-021-02141-4. Orphanet J Rare Dis. 2021. PMID: 34949201 Free PMC article.
Safety and Efficacy of DTX401, an AAV8-Mediated Liver-Directed Gene Therapy, in Adults With Glycogen Storage Disease Type I a (GSDIa).
Weinstein DA, Derks TG, Rodriguez-Buritica DF, Ahmad A, Couce ML, Mitchell JJ, Riba-Wolman R, Mount M, Sallago JB, Ross KM, van der Klauw MM, de Boer F, van der Schaaf C, Saavedra H, Martínez-Olmos M, Atanga E, Hosseini A, Mitragotri D, Crombez E. Weinstein DA, et al. Among authors: rodriguez buritica df. J Inherit Metab Dis. 2025 Mar;48(2):e70014. doi: 10.1002/jimd.70014. J Inherit Metab Dis. 2025. PMID: 40064185 Free PMC article. Clinical Trial.
Chromatin conformation capture in the clinic: 4C-seq/HiC distinguishes pathogenic from neutral duplications at the GPR101 locus.
Daly AF, Dunnington LA, Rodriguez-Buritica DF, Spiegel E, Brancati F, Mantovani G, Rawal VM, Faucz FR, Hijazi H, Caberg JH, Nardone AM, Bengala M, Fortugno P, Del Sindaco G, Ragonese M, Gould H, Cannavò S, Pétrossians P, Lania A, Lupski JR, Beckers A, Stratakis CA, Levy B, Trivellin G, Franke M. Daly AF, et al. Among authors: rodriguez buritica df. Genome Med. 2024 Sep 13;16(1):112. doi: 10.1186/s13073-024-01378-5. Genome Med. 2024. PMID: 39272130 Free PMC article.
Evolution of sleep disordered breathing in infants with achondroplasia.
Legare JM, Ingram DG, Pauli RM, Hecht JT, Dujmusic L, Rodriguez-Buritica DF, Campbell JW, Modaff P, Little ME, Smid CJ, Serna ME, Bober MB, Hoover-Fong JE, Hashmi SS. Legare JM, et al. Among authors: rodriguez buritica df. Sleep Breath. 2025 Jan 23;29(1):88. doi: 10.1007/s11325-025-03254-x. Sleep Breath. 2025. PMID: 39847128
JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome.
Verberne EA, Goh S, England J, van Ginkel M, Rafael-Croes L, Maas S, Polstra A, Zarate YA, Bosanko KA, Pechter KB, Bedoukian E, Izumi K, Chaudhry A, Robin NH, Boothe M, Lippa NC, Aggarwal V, De Vivo DC, Lehman A, Study C, Stockler S, Bruel AL, Isidor B, Lemons J, Rodriguez-Buritica DF, Richmond CM, Stark Z, Agrawal PB, Kooy RF, Meuwissen MEC, Koolen DA, Pfundt R, Lieden A, Anderlid BM, Glatz D, Mannens MMAM, Bakshi M, Mallette FA, van Haelst MM, Campeau PM. Verberne EA, et al. Among authors: rodriguez buritica df. Genet Med. 2021 Feb;23(2):374-383. doi: 10.1038/s41436-020-00992-z. Epub 2020 Oct 20. Genet Med. 2021. PMID: 33077894 Free article.
Achondroplasia natural history study (CLARITY): 60-year experience in orthopedic surgery from four skeletal dysplasia centers.
Nahm NJ, Mackenzie WGS, Mackenzie WG, Gough E, Hashmi SS, Hecht JT, Legare JM, Little ME, Modaff P, Pauli RM, Rodriguez-Buritica DF, Serna ME, Smid CJ, Hoover-Fong J, Bober MB. Nahm NJ, et al. Among authors: rodriguez buritica df. Orphanet J Rare Dis. 2023 Jun 6;18(1):139. doi: 10.1186/s13023-023-02738-x. Orphanet J Rare Dis. 2023. PMID: 37280669 Free PMC article.
22 results