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CTF meeting 2012: Translation of the basic understanding of the biology and genetics of NF1, NF2, and schwannomatosis toward the development of effective therapies.
Widemann BC, Acosta MT, Ammoun S, Belzberg AJ, Bernards A, Blakeley J, Bretscher A, Cichowski K, Clapp DW, Dombi E, Evans GD, Ferner R, Fernandez-Valle C, Fisher MJ, Giovannini M, Gutmann DH, Hanemann CO, Hennigan R, Huson S, Ingram D, Kissil J, Korf BR, Legius E, Packer RJ, McClatchey AI, McCormick F, North K, Pehrsson M, Plotkin SR, Ramesh V, Ratner N, Schirmer S, Sherman L, Schorry E, Stevenson D, Stewart DR, Ullrich N, Bakker AC, Morrison H. Widemann BC, et al. Among authors: stevenson d. Am J Med Genet A. 2014 Mar;164A(3):563-78. doi: 10.1002/ajmg.a.36312. Epub 2014 Jan 17. Am J Med Genet A. 2014. PMID: 24443315 Free PMC article.
Current whole-body MRI applications in the neurofibromatoses: NF1, NF2, and schwannomatosis.
Ahlawat S, Fayad LM, Khan MS, Bredella MA, Harris GJ, Evans DG, Farschtschi S, Jacobs MA, Chhabra A, Salamon JM, Wenzel R, Mautner VF, Dombi E, Cai W, Plotkin SR, Blakeley JO; Whole Body MRI Committee for the REiNS International Collaboration; REiNS International Collaboration Members 2016. Ahlawat S, et al. Neurology. 2016 Aug 16;87(7 Suppl 1):S31-9. doi: 10.1212/WNL.0000000000002929. Neurology. 2016. PMID: 27527647 Free PMC article.
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation.
Legius E, Messiaen L, Wolkenstein P, Pancza P, Avery RA, Berman Y, Blakeley J, Babovic-Vuksanovic D, Cunha KS, Ferner R, Fisher MJ, Friedman JM, Gutmann DH, Kehrer-Sawatzki H, Korf BR, Mautner VF, Peltonen S, Rauen KA, Riccardi V, Schorry E, Stemmer-Rachamimov A, Stevenson DA, Tadini G, Ullrich NJ, Viskochil D, Wimmer K, Yohay K; International Consensus Group on Neurofibromatosis Diagnostic Criteria (I-NF-DC); Huson SM, Evans DG, Plotkin SR. Legius E, et al. Among authors: stevenson da. Genet Med. 2021 Aug;23(8):1506-1513. doi: 10.1038/s41436-021-01170-5. Epub 2021 May 19. Genet Med. 2021. PMID: 34012067 Free PMC article.
An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation.
Upadhyaya M, Huson SM, Davies M, Thomas N, Chuzhanova N, Giovannini S, Evans DG, Howard E, Kerr B, Griffiths S, Consoli C, Side L, Adams D, Pierpont M, Hachen R, Barnicoat A, Li H, Wallace P, Van Biervliet JP, Stevenson D, Viskochil D, Baralle D, Haan E, Riccardi V, Turnpenny P, Lazaro C, Messiaen L. Upadhyaya M, et al. Among authors: stevenson d. Am J Hum Genet. 2007 Jan;80(1):140-51. doi: 10.1086/510781. Epub 2006 Dec 8. Am J Hum Genet. 2007. PMID: 17160901 Free PMC article.
Towards a new taxonomy of preterm birth.
Stevenson DK, Chang AL, Wong RJ, Reiss JD, Gaudillière B, Sylvester KG, Ling XB, Angst MS, Shaw GM, Katz M, Aghaeepour N, Marić I. Stevenson DK, et al. J Perinatol. 2024 Nov 20. doi: 10.1038/s41372-024-02183-z. Online ahead of print. J Perinatol. 2024. PMID: 39567650 Review.
Corrigendum to "Mode of delivery predicts postpartum maternal leukocyte telomere length" [Eur. J. Obstetr. Gynecol. Reprod. Biol. 300 (2024) 224-229].
Panelli DM, Mayo JA, Wong RJ, Becker M, Feyaerts D, Marić I, Wu E, Gotlib IH, Gaudillière B, Aghaeepour N, Druzin ML, Stevenson DK, Shaw GM, Bianco K. Panelli DM, et al. Among authors: stevenson dk. Eur J Obstet Gynecol Reprod Biol. 2024 Nov 18;304:35. doi: 10.1016/j.ejogrb.2024.11.017. Online ahead of print. Eur J Obstet Gynecol Reprod Biol. 2024. PMID: 39561615 No abstract available.
Generating pregnant patient biological profiles by deconvoluting clinical records with electronic health record foundation models.
Seong D, Mataraso S, Espinosa C, Berson E, Reincke SM, Xue L, Kashiwagi C, Kim Y, Shu CH, Chung P, Ghanem M, Xie F, Wong RJ, Angst MS, Gaudilliere B, Shaw GM, Stevenson DK, Aghaeepour N. Seong D, et al. Among authors: stevenson dk. Brief Bioinform. 2024 Sep 23;25(6):bbae574. doi: 10.1093/bib/bbae574. Brief Bioinform. 2024. PMID: 39545787 Free PMC article.
2,064 results