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215 results

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Page 1
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.
Koczkowska M, Callens T, Chen Y, Gomes A, Hicks AD, Sharp A, Johns E, Uhas KA, Armstrong L, Bosanko KA, Babovic-Vuksanovic D, Baker L, Basel DG, Bengala M, Bennett JT, Chambers C, Clarkson LK, Clementi M, Cortés FM, Cunningham M, D'Agostino MD, Delatycki MB, Digilio MC, Dosa L, Esposito S, Fox S, Freckmann ML, Fauth C, Giugliano T, Giustini S, Goetsch A, Goldberg Y, Greenwood RS, Griffis C, Gripp KW, Gupta P, Haan E, Hachen RK, Haygarth TL, Hernández-Chico C, Hodge K, Hopkin RJ, Hudgins L, Janssens S, Keller K, Kelly-Mancuso G, Kochhar A, Korf BR, Lewis AM, Liebelt J, Lichty A, Listernick RH, Lyons MJ, Maystadt I, Martinez Ojeda M, McDougall C, McGregor LK, Melis D, Mendelsohn N, Nowaczyk MJM, Ortenberg J, Panzer K, Pappas JG, Pierpont ME, Piluso G, Pinna V, Pivnick EK, Pond DA, Powell CM, Rogers C, Ruhrman Shahar N, Rutledge SL, Saletti V, Sandaradura SA, Santoro C, Schatz UA, Schreiber A, Scott DA, Sellars EA, Sheffer R, Siqveland E, Slopis JM, Smith R, Spalice A, Stockton DW, Streff H, Theos A, Tomlinson GE, Tran G, Trapane PL, Trevisson E, Ullrich NJ, Van den Ende J, Schrier Vergano SA, Wallace SE, Wangler MF, Weaver DD, Yohay KH, Zackai E, Zonana J, Zurcher V, Claes KB… See abstract for full author list ➔ Koczkowska M, et al. Among authors: listernick rh. Hum Mutat. 2020 Jan;41(1):299-315. doi: 10.1002/humu.23929. Epub 2019 Oct 26. Hum Mutat. 2020. PMID: 31595648 Free PMC article.
Neurofibromatosis type 1 in childhood.
Listernick R, Charrow J. Listernick R, et al. J Pediatr. 1990 Jun;116(6):845-53. doi: 10.1016/s0022-3476(05)80639-0. J Pediatr. 1990. PMID: 2112186 Review. No abstract available.
Neurofibromatosis-1 in childhood.
Listernick R, Charrow J. Listernick R, et al. Adv Dermatol. 2004;20:75-115. Adv Dermatol. 2004. PMID: 15544197 Review. No abstract available.
Functional outcome measures for NF1-associated optic pathway glioma clinical trials.
Fisher MJ, Avery RA, Allen JC, Ardern-Holmes SL, Bilaniuk LT, Ferner RE, Gutmann DH, Listernick R, Martin S, Ullrich NJ, Liu GT; REiNS International Collaboration. Fisher MJ, et al. Neurology. 2013 Nov 19;81(21 Suppl 1):S15-24. doi: 10.1212/01.wnl.0000435745.95155.b8. Neurology. 2013. PMID: 24249802 Free PMC article.
Gender as a disease modifier in neurofibromatosis type 1 optic pathway glioma.
Fisher MJ, Loguidice M, Gutmann DH, Listernick R, Ferner RE, Ullrich NJ, Packer RJ, Tabori U, Hoffman RO, Ardern-Holmes SL, Hummel TR, Hargrave DR, Bouffet E, Charrow J, Bilaniuk LT, Balcer LJ, D'Agostino McGowan L, Liu GT. Fisher MJ, et al. Ann Neurol. 2014 May;75(5):799-800. doi: 10.1002/ana.24157. Epub 2014 May 14. Ann Neurol. 2014. PMID: 24740685 No abstract available.
Neurofibromatosis type 1.
Gutmann DH, Ferner RE, Listernick RH, Korf BR, Wolters PL, Johnson KJ. Gutmann DH, et al. Among authors: listernick rh. Nat Rev Dis Primers. 2017 Feb 23;3:17004. doi: 10.1038/nrdp.2017.4. Nat Rev Dis Primers. 2017. PMID: 28230061 Review.
2016 Children's Tumor Foundation conference on neurofibromatosis type 1, neurofibromatosis type 2, and schwannomatosis.
Fisher MJ, Belzberg AJ, de Blank P, De Raedt T, Elefteriou F, Ferner RE, Giovannini M, Harris GJ, Kalamarides M, Karajannis MA, Kim A, Lázaro C, Le LQ, Li W, Listernick R, Martin S, Morrison H, Pasmant E, Ratner N, Schorry E, Ullrich NJ, Viskochil D, Weiss B, Widemann BC, Zhu Y, Bakker A, Serra E. Fisher MJ, et al. Am J Med Genet A. 2018 May;176(5):1258-1269. doi: 10.1002/ajmg.a.38675. Am J Med Genet A. 2018. PMID: 29681099 Free PMC article.
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Koczkowska M, Callens T, Gomes A, Sharp A, Chen Y, Hicks AD, Aylsworth AS, Azizi AA, Basel DG, Bellus G, Bird LM, Blazo MA, Burke LW, Cannon A, Collins F, DeFilippo C, Denayer E, Digilio MC, Dills SK, Dosa L, Greenwood RS, Griffis C, Gupta P, Hachen RK, Hernández-Chico C, Janssens S, Jones KJ, Jordan JT, Kannu P, Korf BR, Lewis AM, Listernick RH, Lonardo F, Mahoney MJ, Ojeda MM, McDonald MT, McDougall C, Mendelsohn N, Miller DT, Mori M, Oostenbrink R, Perreault S, Pierpont ME, Piscopo C, Pond DA, Randolph LM, Rauen KA, Rednam S, Rutledge SL, Saletti V, Schaefer GB, Schorry EK, Scott DA, Shugar A, Siqveland E, Starr LJ, Syed A, Trapane PL, Ullrich NJ, Wakefield EG, Walsh LE, Wangler MF, Zackai E, Claes KBM, Wimmer K, van Minkelen R, De Luca A, Martin Y, Legius E, Messiaen LM. Koczkowska M, et al. Among authors: listernick rh. Genet Med. 2019 Apr;21(4):867-876. doi: 10.1038/s41436-018-0269-0. Epub 2018 Sep 7. Genet Med. 2019. PMID: 30190611 Free PMC article.
Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Koczkowska M, Callens T, Gomes A, Sharp A, Chen Y, Hicks AD, Aylsworth AS, Azizi AA, Basel DG, Bellus G, Bird LM, Blazo MA, Burke LW, Cannon A, Collins F, DeFilippo C, Denayer E, Digilio MC, Dills SK, Dosa L, Greenwood RS, Griffis C, Gupta P, Hachen RK, Hernández-Chico C, Janssens S, Jones KJ, Jordan JT, Kannu P, Korf BR, Lewis AM, Listernick RH, Lonardo F, Mahoney MJ, Ojeda MM, McDonald MT, McDougall C, Mendelsohn N, Miller DT, Mori M, Oostenbrink R, Perreault S, Pierpont ME, Piscopo C, Pond DA, Randolph LM, Rauen KA, Rednam S, Rutledge SL, Saletti V, Schaefer GB, Schorry EK, Scott DA, Shugar A, Siqveland E, Starr LJ, Syed A, Trapane PL, Ullrich NJ, Wakefield EG, Walsh LE, Wangler MF, Zackai E, Claes KBM, Wimmer K, van Minkelen R, De Luca A, Martin Y, Legius E, Messiaen LM. Koczkowska M, et al. Among authors: listernick rh. Genet Med. 2019 Mar;21(3):764-765. doi: 10.1038/s41436-018-0326-8. Genet Med. 2019. PMID: 30275510 Free PMC article.
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