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Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.
Annunen S, Körkkö J, Czarny M, Warman ML, Brunner HG, Kääriäinen H, Mulliken JB, Tranebjaerg L, Brooks DG, Cox GF, Cruysberg JR, Curtis MA, Davenport SL, Friedrich CA, Kaitila I, Krawczynski MR, Latos-Bielenska A, Mukai S, Olsen BR, Shinno N, Somer M, Vikkula M, Zlotogora J, Prockop DJ, Ala-Kokko L. Annunen S, et al. Among authors: friedrich ca. Am J Hum Genet. 1999 Oct;65(4):974-83. doi: 10.1086/302585. Am J Hum Genet. 1999. PMID: 10486316 Free PMC article.
Recent developments in ovarian cancer genetics.
Barnett GL, Friedrich CA. Barnett GL, et al. Among authors: friedrich ca. Curr Opin Obstet Gynecol. 2004 Feb;16(1):79-85. doi: 10.1097/00001703-200402000-00014. Curr Opin Obstet Gynecol. 2004. PMID: 15128012 Review.
An internist's update on cholesterol management.
Holman HE, Hicks GS, Low AK, Bouldin MJ, Russell LD, Friedrich CA, Brown CA. Holman HE, et al. Among authors: friedrich ca. Am J Med Sci. 2002 Oct;324(4):189-95. doi: 10.1097/00000441-200210000-00005. Am J Med Sci. 2002. PMID: 12385491 Review.
Management of lipid disorders.
Friedrich CA, Rader DJ. Friedrich CA, et al. Rheum Dis Clin North Am. 1999 Aug;25(3):507-20. doi: 10.1016/s0889-857x(05)70084-3. Rheum Dis Clin North Am. 1999. PMID: 10467626 Free article. Review.
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