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Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome.
Villard L, Bonino MC, Abidi F, Ragusa A, Belougne J, Lossi AM, Seaver L, Bonnefont JP, Romano C, Fichera M, Lacombe D, Hanauer A, Philip N, Schwartz C, Fontés M. Villard L, et al. Among authors: romano c. J Med Genet. 1999 Mar;36(3):183-6. J Med Genet. 1999. PMID: 10204841 Free PMC article.
An updated survey on skin conditions in Down syndrome.
Schepis C, Barone C, Siragusa M, Pettinato R, Romano C. Schepis C, et al. Among authors: romano c. Dermatology. 2002;205(3):234-8. doi: 10.1159/000065859. Dermatology. 2002. PMID: 12399669
Methionine synthase (MTR) 2756 (A --> G) polymorphism, double heterozygosity methionine synthase 2756 AG/methionine synthase reductase (MTRR) 66 AG, and elevated homocysteinemia are three risk factors for having a child with Down syndrome.
Bosco P, Guéant-Rodriguez RM, Anello G, Barone C, Namour F, Caraci F, Romano A, Romano C, Guéant JL. Bosco P, et al. Among authors: romano c, romano a. Am J Med Genet A. 2003 Sep 1;121A(3):219-24. doi: 10.1002/ajmg.a.20234. Am J Med Genet A. 2003. PMID: 12923861
Denaturing HPLC-based assay for detection of ATRX gene mutations.
Falco M, Luciano D, Sturnio M, Spalletta A, Scionti D, Lo Giudice M, Romano C, Fichera M. Falco M, et al. Among authors: romano c. Clin Chem. 2005 Jul;51(7):1314-5. doi: 10.1373/clinchem.2005.052407. Clin Chem. 2005. PMID: 15976132 No abstract available.
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.
Koolen DA, Vissers LE, Pfundt R, de Leeuw N, Knight SJ, Regan R, Kooy RF, Reyniers E, Romano C, Fichera M, Schinzel A, Baumer A, Anderlid BM, Schoumans J, Knoers NV, van Kessel AG, Sistermans EA, Veltman JA, Brunner HG, de Vries BB. Koolen DA, et al. Among authors: romano c. Nat Genet. 2006 Sep;38(9):999-1001. doi: 10.1038/ng1853. Epub 2006 Aug 13. Nat Genet. 2006. PMID: 16906164
1,856 results