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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: schorry ek. 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.
Ullrich-Turner syndrome and neurofibromatosis-1.
Schorry EK, Lovell AM, Milatovich A, Saal HM. Schorry EK, et al. Am J Med Genet. 1996 Dec 30;66(4):423-5. doi: 10.1002/(SICI)1096-8628(19961230)66:4<423::AID-AJMG6>3.0.CO;2-L. Am J Med Genet. 1996. PMID: 8989459
Thoracic tumors in children with neurofibromatosis-1.
Schorry EK, Crawford AH, Egelhoff JC, Lovell AM, Saal HM. Schorry EK, et al. Am J Med Genet. 1997 Sep 19;74(5):533-7. doi: 10.1002/(sici)1096-8628(19970919)74:5<533::aid-ajmg16>3.0.co;2-d. Am J Med Genet. 1997. PMID: 9342207
Lethal presentation of neurofibromatosis and Noonan syndrome.
Prada CE, Zarate YA, Hagenbuch S, Lovell A, Schorry EK, Hopkin RJ. Prada CE, et al. Among authors: schorry ek. Am J Med Genet A. 2011 Jun;155A(6):1360-6. doi: 10.1002/ajmg.a.33996. Epub 2011 May 12. Am J Med Genet A. 2011. PMID: 21567923
Fractures in children with neurofibromatosis type 1 from two NF clinics.
George-Abraham JK, Martin LJ, Kalkwarf HJ, Rieley MB, Stevenson DA, Viskochil DH, Hopkin RJ, Stevens AM, Hanson H, Schorry EK. George-Abraham JK, et al. Among authors: schorry ek. Am J Med Genet A. 2013 May;161A(5):921-6. doi: 10.1002/ajmg.a.35541. Epub 2013 Mar 25. Am J Med Genet A. 2013. PMID: 23529831
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. 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.
Sirolimus for progressive neurofibromatosis type 1-associated plexiform neurofibromas: a neurofibromatosis Clinical Trials Consortium phase II study.
Weiss B, Widemann BC, Wolters P, Dombi E, Vinks A, Cantor A, Perentesis J, Schorry E, Ullrich N, Gutmann DH, Tonsgard J, Viskochil D, Korf B, Packer RJ, Fisher MJ. Weiss B, et al. Neuro Oncol. 2015 Apr;17(4):596-603. doi: 10.1093/neuonc/nou235. Epub 2014 Oct 14. Neuro Oncol. 2015. PMID: 25314964 Free PMC article. Clinical Trial.
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.
Rojnueangnit K, Xie J, Gomes A, Sharp A, Callens T, Chen Y, Liu Y, Cochran M, Abbott MA, Atkin J, Babovic-Vuksanovic D, Barnett CP, Crenshaw M, Bartholomew DW, Basel L, Bellus G, Ben-Shachar S, Bialer MG, Bick D, Blumberg B, Cortes F, David KL, Destree A, Duat-Rodriguez A, Earl D, Escobar L, Eswara M, Ezquieta B, Frayling IM, Frydman M, Gardner K, Gripp KW, Hernández-Chico C, Heyrman K, Ibrahim J, Janssens S, Keena BA, Llano-Rivas I, Leppig K, McDonald M, Misra VK, Mulbury J, Narayanan V, Orenstein N, Galvin-Parton P, Pedro H, Pivnick EK, Powell CM, Randolph L, Raskin S, Rosell J, Rubin K, Seashore M, Schaaf CP, Scheuerle A, Schultz M, Schorry E, Schnur R, Siqveland E, Tkachuk A, Tonsgard J, Upadhyaya M, Verma IC, Wallace S, Williams C, Zackai E, Zonana J, Lazaro C, Claes K, Korf B, Martin Y, Legius E, Messiaen L. Rojnueangnit K, et al. Among authors: schorry e. Hum Mutat. 2015 Nov;36(11):1052-63. doi: 10.1002/humu.22832. Epub 2015 Aug 21. Hum Mutat. 2015. PMID: 26178382 Free PMC article.
80 results