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Year | Number of Results |
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PubMed (cited) for id: 162210
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Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis.
J Med Genet. 2013 Sep;50(9):606-13. doi: 10.1136/jmedgenet-2013-101648. Epub 2013 Jun 28.
J Med Genet. 2013.
PMID: 23812910
Free PMC article.
Independent NF1 mutations in two large families with spinal neurofibromatosis.
Messiaen L, Riccardi V, Peltonen J, Maertens O, Callens T, Karvonen SL, Leisti EL, Koivunen J, Vandenbroucke I, Stephens K, Pöyhönen M.
Messiaen L, et al.
J Med Genet. 2003 Feb;40(2):122-6. doi: 10.1136/jmg.40.2.122.
J Med Genet. 2003.
PMID: 12566521
Free PMC article.
No abstract available.
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Spinal neurofibromatosis without café-au-lait macules in two families with null mutations of the NF1 gene.
Kaufmann D, Müller R, Bartelt B, Wolf M, Kunzi-Rapp K, Hanemann CO, Fahsold R, Hein C, Vogel W, Assum G.
Kaufmann D, et al.
Am J Hum Genet. 2001 Dec;69(6):1395-400. doi: 10.1086/324648. Epub 2001 Oct 18.
Am J Hum Genet. 2001.
PMID: 11704931
Free PMC article.
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A clinical variant of neurofibromatosis type 1: familial spinal neurofibromatosis with a frameshift mutation in the NF1 gene.
Ars E, Kruyer H, Gaona A, Casquero P, Rosell J, Volpini V, Serra E, Lázaro C, Estivill X.
Ars E, et al.
Am J Hum Genet. 1998 Apr;62(4):834-41. doi: 10.1086/301803.
Am J Hum Genet. 1998.
PMID: 9529361
Free PMC article.
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Hereditary spinal neurofibromatosis: a rare form of NF1?
Poyhonen M, Leisti EL, Kytölä S, Leisti J.
Poyhonen M, et al.
J Med Genet. 1997 Mar;34(3):184-7. doi: 10.1136/jmg.34.3.184.
J Med Genet. 1997.
PMID: 9132486
Free PMC article.
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Familial spinal neurofibromatosis: clinical and DNA linkage analysis.
Pulst SM, Riccardi VM, Fain P, Korenberg JR.
Pulst SM, et al.
Neurology. 1991 Dec;41(12):1923-7. doi: 10.1212/wnl.41.12.1923.
Neurology. 1991.
PMID: 1745350
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