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Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder.
Stewart DR, Brems H, Gomes AG, Ruppert SL, Callens T, Williams J, Claes K, Bober MB, Hachen R, Kaban LB, Li H, Lin A, McDonald M, Melancon S, Ortenberg J, Radtke HB, Samson I, Saul RA, Shen J, Siqveland E, Toler TL, van Maarle M, Wallace M, Williams M, Legius E, Messiaen L. Stewart DR, et al. Among authors: legius e. Genet Med. 2014 Jun;16(6):448-59. doi: 10.1038/gim.2013.163. Epub 2013 Nov 14. Genet Med. 2014. PMID: 24232412 Free article.
Restrictive dermopathy with distinct morphological abnormalities.
Van Hoestenberghe M, Legius E, Vandevoorde W, Eykens A, Jaeken J, Eggermont E, Devos R, De Wolf-Peeters C, Fryns JP. Van Hoestenberghe M, et al. Among authors: legius e. Am J Med Genet. 1990 Jul;36(3):297-300. doi: 10.1002/ajmg.1320360310. Am J Med Genet. 1990. PMID: 2363426
Neurofibromatosis type 1.
Legius E, Descheemaeker MJ, Fryns JP, Van den Berghe H. Legius E, et al. Genet Couns. 1994;5(3):225-41. Genet Couns. 1994. PMID: 7811422 Review.
Ten base pair duplication in exon 38 of the NF1 gene.
Legius E, Hall BK, Wallace MR, Collins FS, Glover TW. Legius E, et al. Hum Mol Genet. 1994 May;3(5):829-30. doi: 10.1093/hmg/3.5.829. Hum Mol Genet. 1994. PMID: 8081372 No abstract available.
Molecular studies in 20 submicroscopic neurofibromatosis type 1 gene deletions.
Lopez Correa C, Brems H, Lázaro C, Estivill X, Clementi M, Mason S, Rutkowski JL, Marynen P, Legius E. Lopez Correa C, et al. Among authors: legius e. Hum Mutat. 1999;14(5):387-93. doi: 10.1002/(SICI)1098-1004(199911)14:5<387::AID-HUMU4>3.0.CO;2-4. Hum Mutat. 1999. PMID: 10533064
NF2 gene deletion in a family with a mild phenotype.
López-Correa C, Zucman-Rossi J, Brems H, Thomas G, Legius E. López-Correa C, et al. Among authors: legius e. J Med Genet. 2000 Jan;37(1):75-7. doi: 10.1136/jmg.37.1.75. J Med Genet. 2000. PMID: 10691417 Free PMC article. No abstract available.
Unequal meiotic crossover: a frequent cause of NF1 microdeletions.
López Correa C, Brems H, Lázaro C, Marynen P, Legius E. López Correa C, et al. Among authors: legius e. Am J Hum Genet. 2000 Jun;66(6):1969-74. doi: 10.1086/302920. Epub 2000 Apr 20. Am J Hum Genet. 2000. PMID: 10775528 Free PMC article.
Recombination hotspot in NF1 microdeletion patients.
López-Correa C, Dorschner M, Brems H, Lázaro C, Clementi M, Upadhyaya M, Dooijes D, Moog U, Kehrer-Sawatzki H, Rutkowski JL, Fryns JP, Marynen P, Stephens K, Legius E. López-Correa C, et al. Among authors: legius e. Hum Mol Genet. 2001 Jun 15;10(13):1387-92. doi: 10.1093/hmg/10.13.1387. Hum Mol Genet. 2001. PMID: 11440991
328 results