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Clinical and molecular predictors of mortality in neurofibromatosis 2: a UK national analysis of 1192 patients.
Hexter A, Jones A, Joe H, Heap L, Smith MJ, Wallace AJ, Halliday D, Parry A, Taylor A, Raymond L, Shaw A, Afridi S, Obholzer R, Axon P, King AT; English Specialist NF2 Research Group; Friedman JM, Evans DG. Hexter A, et al. Among authors: friedman jm. J Med Genet. 2015 Oct;52(10):699-705. doi: 10.1136/jmedgenet-2015-103290. Epub 2015 Aug 14. J Med Genet. 2015. PMID: 26275417
Update from the 2013 International Neurofibromatosis Conference.
Plotkin SR, Albers AC, Babovic-Vuksanovic D, Blakeley JO, Breakefield XO, Dunn CM, Evans DG, Fisher MJ, Friedman JM, Giovannini M, Gutmann DH, Kalamarides M, McClatchey AI, Messiaen L, Morrison H, Parkinson DB, Stemmer-Rachamimov AO, Van Raamsdonk CD, Riccardi VM, Rosser T, Schindeler A, Smith MJ, Stevenson DA, Ullrich NJ, van der Vaart T, Weiss B, Widemann BC, Zhu Y, Bakker AC, Lloyd AC. Plotkin SR, et al. Among authors: friedman jm. Am J Med Genet A. 2014 Dec;164A(12):2969-78. doi: 10.1002/ajmg.a.36754. Epub 2014 Sep 24. Am J Med Genet A. 2014. PMID: 25255738 Free PMC article. No abstract available.
A case of splenomegaly in CBL syndrome.
Coe RR, McKinnon ML, Tarailo-Graovac M, Ross CJ, Wasserman WW, Friedman JM, Rogers PC, van Karnebeek CDM. Coe RR, et al. Among authors: friedman jm. Eur J Med Genet. 2017 Jul;60(7):374-379. doi: 10.1016/j.ejmg.2017.04.009. Epub 2017 Apr 13. Eur J Med Genet. 2017. PMID: 28414188
Renpenning syndrome in a female.
Cho RY, Peñaherrera MS, Du Souich C, Huang L, Mwenifumbo J, Nelson TN, Elliott AM, Adam S; CAUSES Study; Eydoux P, Yang GX, Chijiwa C, Van Allen MI, Friedman JM, Robinson WP, Lehman A. Cho RY, et al. Among authors: friedman jm. Am J Med Genet A. 2020 Mar;182(3):498-503. doi: 10.1002/ajmg.a.61451. Epub 2019 Dec 16. Am J Med Genet A. 2020. PMID: 31840929
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: friedman jm. 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.
Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation.
Plotkin SR, Messiaen L, Legius E, Pancza P, Avery RA, Blakeley JO, Babovic-Vuksanovic D, Ferner R, Fisher MJ, Friedman JM, Giovannini M, Gutmann DH, Hanemann CO, Kalamarides M, Kehrer-Sawatzki H, Korf BR, Mautner VF, MacCollin M, Papi L, Rauen KA, Riccardi V, Schorry E, Smith MJ, Stemmer-Rachamimov A, Stevenson DA, Ullrich NJ, Viskochil D, Wimmer K, Yohay K; International Consensus Group on Neurofibromatosis Diagnostic Criteria (I-NF-DC); Huson SM, Wolkenstein P, Evans DG. Plotkin SR, et al. Among authors: friedman jm. Genet Med. 2022 Sep;24(9):1967-1977. doi: 10.1016/j.gim.2022.05.007. Epub 2022 Jun 9. Genet Med. 2022. PMID: 35674741 Free article.
837 results