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PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.
Marsh DJ, Kum JB, Lunetta KL, Bennett MJ, Gorlin RJ, Ahmed SF, Bodurtha J, Crowe C, Curtis MA, Dasouki M, Dunn T, Feit H, Geraghty MT, Graham JM Jr, Hodgson SV, Hunter A, Korf BR, Manchester D, Miesfeldt S, Murday VA, Nathanson KL, Parisi M, Pober B, Romano C, Eng C, et al. Marsh DJ, et al. Among authors: crowe c. Hum Mol Genet. 1999 Aug;8(8):1461-72. doi: 10.1093/hmg/8.8.1461. Hum Mol Genet. 1999. PMID: 10400993
Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy.
Brown CA, Lanning RW, McKinney KQ, Salvino AR, Cherniske E, Crowe CA, Darras BT, Gominak S, Greenberg CR, Grosmann C, Heydemann P, Mendell JR, Pober BR, Sasaki T, Shapiro F, Simpson DA, Suchowersky O, Spence JE. Brown CA, et al. Among authors: crowe ca. Am J Med Genet. 2001 Sep 1;102(4):359-67. doi: 10.1002/ajmg.1463. Am J Med Genet. 2001. PMID: 11503164
Natural history of mosaic trisomy 14 syndrome.
Fujimoto A, Allanson J, Crowe CA, Lipson MH, Johnson VP. Fujimoto A, et al. Among authors: crowe ca. Am J Med Genet. 1992 Sep 15;44(2):189-96. doi: 10.1002/ajmg.1320440214. Am J Med Genet. 1992. PMID: 1456290 Review.
Germline mosaicism in Cornelia de Lange syndrome.
Slavin TP, Lazebnik N, Clark DM, Vengoechea J, Cohen L, Kaur M, Konczal L, Crowe CA, Corteville JE, Nowaczyk MJ, Byrne JL, Jackson LG, Krantz ID. Slavin TP, et al. Am J Med Genet A. 2012 Jun;158A(6):1481-5. doi: 10.1002/ajmg.a.35381. Epub 2012 May 11. Am J Med Genet A. 2012. PMID: 22581668 Free PMC article.
259 results