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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: lazaro c. 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
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: lazaro c. 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: lazaro c. Hum Mol Genet. 2001 Jun 15;10(13):1387-92. doi: 10.1093/hmg/10.13.1387. Hum Mol Genet. 2001. PMID: 11440991
An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation.
Upadhyaya M, Huson SM, Davies M, Thomas N, Chuzhanova N, Giovannini S, Evans DG, Howard E, Kerr B, Griffiths S, Consoli C, Side L, Adams D, Pierpont M, Hachen R, Barnicoat A, Li H, Wallace P, Van Biervliet JP, Stevenson D, Viskochil D, Baralle D, Haan E, Riccardi V, Turnpenny P, Lazaro C, Messiaen L. Upadhyaya M, et al. Among authors: lazaro c. Am J Hum Genet. 2007 Jan;80(1):140-51. doi: 10.1086/510781. Epub 2006 Dec 8. Am J Hum Genet. 2007. PMID: 17160901 Free PMC article.
Type 2 NF1 deletions are highly unusual by virtue of the absence of nonallelic homologous recombination hotspots and an apparent preference for female mitotic recombination.
Steinmann K, Cooper DN, Kluwe L, Chuzhanova NA, Senger C, Serra E, Lazaro C, Gilaberte M, Wimmer K, Mautner VF, Kehrer-Sawatzki H. Steinmann K, et al. Among authors: lazaro c. Am J Hum Genet. 2007 Dec;81(6):1201-20. doi: 10.1086/522089. Epub 2007 Oct 31. Am J Hum Genet. 2007. PMID: 17999360 Free PMC article.
392 results