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Long-Term Follow-up of Untreated Adult Patients with Spondylothoracic Dysostosis (Jarcho-Levin Syndrome).
J Bone Joint Surg Am. 2024 Mar 20;106(6):501-507. doi: 10.2106/JBJS.23.00800. Epub 2023 Dec 21.
J Bone Joint Surg Am. 2024.
PMID: 38127843
Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions.
Verscaj CP, Velez-Bartolomei F, Bodle E, Chan K, Lyons MJ, Thorson W, Tan WH, Rodig N, Graham JM Jr, Peron A, Quintero-Rivera F, Zackai EH, Thomas MA, Stevens CA, Adam MP, Bird LM, Jones MC, Matalon DR.
Verscaj CP, et al. Among authors: velez bartolomei f.
Prenat Diagn. 2024 Feb;44(2):237-246. doi: 10.1002/pd.6424. Epub 2023 Aug 26.
Prenat Diagn. 2024.
PMID: 37632214
Review.
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Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association.
Alharbi H, Daniel EJP, Thies J, Chang I, Goldner DL, Ng BG, Witters P, Aqul A, Velez-Bartolomei F, Enns GM, Hsu E, Kichula E, Lee E, Lourenco C, Poskanzer SA, Rasmussen S, Saarela K, Wang YM, Raymond KM, Schultz MJ, Freeze HH, Lam C, Edmondson AC, He M.
Alharbi H, et al. Among authors: velez bartolomei f.
J Inherit Metab Dis. 2023 Mar;46(2):300-312. doi: 10.1002/jimd.12589. Epub 2023 Jan 29.
J Inherit Metab Dis. 2023.
PMID: 36651831
Free PMC article.
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Multiple de novo gene variations in a progeroid phenotype case report: haploinsufficiency mechanisms.
Hernandez-Hernandez C, Pascual J, Carlo S, Velez-Bartolomei F, Rodriguez E, Santiago Cornier A.
Hernandez-Hernandez C, et al. Among authors: velez bartolomei f.
AME Case Rep. 2021 Oct 25;5:40. doi: 10.21037/acr-21-25. eCollection 2021.
AME Case Rep. 2021.
PMID: 34805759
Free PMC article.
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Aicardi-Goutières syndrome may present with positive newborn screen for X-linked adrenoleukodystrophy.
Tise CG, Morales JA, Lee AS, Velez-Bartolomei F, Floyd BJ, Levy RJ, Cusmano-Ozog KP, Feigenbaum AS, Ruzhnikov MRZ, Lee CU, Enns GM.
Tise CG, et al. Among authors: velez bartolomei f.
Am J Med Genet A. 2021 Jun;185(6):1848-1853. doi: 10.1002/ajmg.a.62160. Epub 2021 Mar 8.
Am J Med Genet A. 2021.
PMID: 33683010
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MERRF.
Velez-Bartolomei F, Lee C, Enns G.
Velez-Bartolomei F, et al.
2003 Jun 3 [updated 2021 Jan 7]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
2003 Jun 3 [updated 2021 Jan 7]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
PMID: 20301693
Free Books & Documents.
Review.
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Combined Genome Sequencing and RNA Analysis Reveals and Characterizes a Deep Intronic Variant in IGHMBP2 in a Patient With Spinal Muscular Atrophy With Respiratory Distress Type 1.
Bodle EE, Zhu W, Velez-Bartolomei F, Tesi-Rocha A, Liu P, Bernstein JA.
Bodle EE, et al. Among authors: velez bartolomei f.
Pediatr Neurol. 2021 Jan;114:16-20. doi: 10.1016/j.pediatrneurol.2020.09.011. Epub 2020 Sep 28.
Pediatr Neurol. 2021.
PMID: 33189025
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