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A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait.
Little RD, Carulli JP, Del Mastro RG, Dupuis J, Osborne M, Folz C, Manning SP, Swain PM, Zhao SC, Eustace B, Lappe MM, Spitzer L, Zweier S, Braunschweiger K, Benchekroun Y, Hu X, Adair R, Chee L, FitzGerald MG, Tulig C, Caruso A, Tzellas N, Bawa A, Franklin B, McGuire S, Nogues X, Gong G, Allen KM, Anisowicz A, Morales AJ, Lomedico PT, Recker SM, Van Eerdewegh P, Recker RR, Johnson ML. Little RD, et al. Among authors: franklin b. Am J Hum Genet. 2002 Jan;70(1):11-9. doi: 10.1086/338450. Epub 2001 Dec 3. Am J Hum Genet. 2002. PMID: 11741193 Free PMC article.
Double mosaic aneuploidy: 45,X/47,XY,+8 in a male infant.
Schofield B, Babu A, Punales-Morejon D, Popescu S, Leiter E, Franklin B, Penchaszadeh VB. Schofield B, et al. Among authors: franklin b. Am J Med Genet. 1992 Sep 1;44(1):7-10. doi: 10.1002/ajmg.1320440103. Am J Med Genet. 1992. PMID: 1519655
A 10-Mb paracentric inversion of chromosome arm 2p inactivates MSH2 and is responsible for hereditary nonpolyposis colorectal cancer in a North-American kindred.
Wagner A, van der Klift H, Franken P, Wijnen J, Breukel C, Bezrookove V, Smits R, Kinarsky Y, Barrows A, Franklin B, Lynch J, Lynch H, Fodde R. Wagner A, et al. Among authors: franklin b. Genes Chromosomes Cancer. 2002 Sep;35(1):49-57. doi: 10.1002/gcc.10094. Genes Chromosomes Cancer. 2002. PMID: 12203789
Clinical impact of molecular genetic diagnosis, genetic counseling, and management of hereditary cancer. Part II: Hereditary nonpolyposis colorectal carcinoma as a model.
Lynch HT, Watson P, Shaw TG, Lynch JF, Harty AE, Franklin BA, Kapler CR, Tinley ST, Liu B, Lerman C. Lynch HT, et al. Among authors: franklin ba. Cancer. 1999 Dec 1;86(11 Suppl):2457-63. doi: 10.1002/(sici)1097-0142(19991201)86:11+<2457::aid-cncr2>3.3.co;2-9. Cancer. 1999. PMID: 10630171
823 results