McGinniss MJ - Search Results

1

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. Among authors: mcginniss mj. Genet Med. 2001 May-Jun;3(3):200-5. doi: 10.1097/00125817-200105000-00010. Genet Med. 2001. PMID: 11388762 Free PMC article.

2

Detection of 677CT/1298AC "double variant" chromosomes: implications for interpretation of MTHFR genotyping results.

Brown NM, Pratt VM, Buller A, Pike-Buchanan L, Redman JB, Sun W, Chen R, Crossley B, McGinniss MJ, Quan F, Strom CM. Brown NM, et al. Among authors: mcginniss mj. Genet Med. 2005 Apr;7(4):278-82. doi: 10.1097/01.gim.0000159904.92850.d5. Genet Med. 2005. PMID: 15834246 Free article.

3

Duty to re-contact.

Hirschhorn K, Fleisher LD, Godmilow L, Howell RR, Lebel RR, McCabe ER, McGinniss MJ, Milunsky A, Pelias MZ, Pyeritz RE, Sujansky E, Thompson BH, Zinberg RE. Hirschhorn K, et al. Among authors: mcginniss mj. Genet Med. 1999 May-Jun;1(4):171-2. doi: 10.1097/00125817-199905000-00010. Genet Med. 1999. PMID: 11258354 Free article. No abstract available.

4

Novel and recurrent rearrangements in the CFTR gene: clinical and laboratory implications for cystic fibrosis screening.

Hantash FM, Redman JB, Starn K, Anderson B, Buller A, McGinniss MJ, Quan F, Peng M, Sun W, Strom CM. Hantash FM, et al. Among authors: mcginniss mj. Hum Genet. 2006 Mar;119(1-2):126-36. doi: 10.1007/s00439-005-0082-0. Epub 2005 Dec 17. Hum Genet. 2006. PMID: 16362824

5

CFTR 5T variant has a low penetrance in females that is partially attributable to its haplotype.

Sun W, Anderson B, Redman J, Milunsky A, Buller A, McGinniss MJ, Quan F, Anguiano A, Huang S, Hantash F, Strom C. Sun W, et al. Among authors: mcginniss mj. Genet Med. 2006 Jun;8(6):339-45. doi: 10.1097/01.gim.0000223549.57443.16. Genet Med. 2006. PMID: 16778595 Free article.

6

Mechanisms of ring chromosome formation in 11 cases of human ring chromosome 21.

McGinniss MJ, Kazazian HH Jr, Stetten G, Petersen MB, Boman H, Engel E, Greenberg F, Hertz JM, Johnson A, Laca Z, et al. McGinniss MJ, et al. Am J Hum Genet. 1992 Jan;50(1):15-28. Am J Hum Genet. 1992. PMID: 1346075 Free PMC article.

7

Unbalanced translocation, t(18;21), detected by fluorescence in situ hybridization (FISH) in a child with 18q- syndrome and a ring chromosome 21.

McGinniss MJ, Rosenberg C, Stetten G, Schinzel AA, Binkert F, Petersen MB, Kearns WG, Kazazian HH Jr, Pearson PL, Antonarakis SE. McGinniss MJ, et al. Am J Med Genet. 1993 Jul 1;46(6):647-51. doi: 10.1002/ajmg.1320460609. Am J Med Genet. 1993. PMID: 8362906

8

Molecular screening for diseases frequent in Ashkenazi Jews: lessons learned from more than 100,000 tests performed in a commercial laboratory.

Strom CM, Crossley B, Redman JB, Quan F, Buller A, McGinniss MJ, Sun W. Strom CM, et al. Among authors: mcginniss mj. Genet Med. 2004 May-Jun;6(3):145-52. doi: 10.1097/01.gim.0000127267.57526.d1. Genet Med. 2004. PMID: 15354333

9

Extensive sequencing of the CFTR gene: lessons learned from the first 157 patient samples.

McGinniss MJ, Chen C, Redman JB, Buller A, Quan F, Peng M, Giusti R, Hantash FM, Huang D, Sun W, Strom CM. McGinniss MJ, et al. Hum Genet. 2005 Dec;118(3-4):331-8. doi: 10.1007/s00439-005-0065-1. Epub 2005 Sep 28. Hum Genet. 2005. PMID: 16189704

10

Ring chromosome X in a child with manifestations of Kabuki syndrome.

McGinniss MJ, Brown DH, Burke LW, Mascarello JT, Jones MC. McGinniss MJ, et al. Am J Med Genet. 1997 May 2;70(1):37-42. Am J Med Genet. 1997. PMID: 9129739 Review.

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