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Technical standards and guidelines for fragile X: the first of a series of disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics. Quality Assurance Subcommittee of the Laboratory Practice Committee.
Maddalena A, Richards CS, McGinniss MJ, Brothman A, Desnick RJ, Grier RE, Hirsch B, Jacky P, McDowell GA, Popovich B, Watson M, Wolff DJ. Maddalena A, et al. Genet Med. 2001 May-Jun;3(3):200-5. doi: 10.1097/00125817-200105000-00010. Genet Med. 2001. PMID: 11388762 Free PMC article.
Standards and guidelines for CFTR mutation testing.
Richards CS, Bradley LA, Amos J, Allitto B, Grody WW, Maddalena A, McGinnis MJ, Prior TW, Popovich BW, Watson MS, Palomaki GE. Richards CS, et al. Among authors: maddalena a. Genet Med. 2002 Sep-Oct;4(5):379-91. doi: 10.1097/00125817-200209000-00010. Genet Med. 2002. PMID: 12394352 Free article.
Molecular fragile X screening in normal populations.
Spence WC, Black SH, Fallon L, Maddalena A, Cummings E, Menapace-Drew G, Bick DP, Levinson G, Schulman JD, Howard-Peebles PN. Spence WC, et al. Among authors: maddalena a. Am J Med Genet. 1996 Jul 12;64(1):181-3. doi: 10.1002/(SICI)1096-8628(19960712)64:1<181::AID-AJMG31>3.0.CO;2-H. Am J Med Genet. 1996. PMID: 8826471
Prenatal diagnosis in known fragile X carriers.
Maddalena A, Hicks BD, Spence WC, Levinson G, Howard-Peebles PN. Maddalena A, et al. Am J Med Genet. 1994 Jul 15;51(4):490-6. doi: 10.1002/ajmg.1320510439. Am J Med Genet. 1994. PMID: 7943026
Recent experience in prenatal diagnosis of fragile X.
Howard-Peebles PN, Maddalena A. Howard-Peebles PN, et al. Among authors: maddalena a. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):162-6. doi: 10.1002/ajmg.1320430126. Am J Med Genet. 1992. PMID: 1605186
Molecular diagnosis of genetic disease.
Maddalena A, Bick DP, Schulman JD. Maddalena A, et al. J Reprod Med. 1992 May;37(5):437-44. J Reprod Med. 1992. PMID: 1507192 Review.
82 results