Roa BB - Search Results

1

Consensus characterization of 16 FMR1 reference materials: a consortium study.

Amos Wilson J, Pratt VM, Phansalkar A, Muralidharan K, Highsmith WE Jr, Beck JC, Bridgeman S, Courtney EM, Epp L, Ferreira-Gonzalez A, Hjelm NL, Holtegaard LM, Jama MA, Jakupciak JP, Johnson MA, Labrousse P, Lyon E, Prior TW, Richards CS, Richie KL, Roa BB, Rohlfs EM, Sellers T, Sherman SL, Siegrist KA, Silverman LM, Wiszniewska J, Kalman LV; Fragile Xperts Working Group of the Association for Molecular Pathology Clinical Practice Committee. Amos Wilson J, et al. Among authors: roa bb. J Mol Diagn. 2008 Jan;10(1):2-12. doi: 10.2353/jmoldx.2008.070105. Epub 2007 Dec 28. J Mol Diagn. 2008. PMID: 18165276 Free PMC article.

2

Developing a sustainable process to provide quality control materials for genetic testing.

Chen B, O' Connell CD, Boone DJ, Amos JA, Beck JC, Chan MM, Farkas DH, Lebo RV, Richards CS, Roa BB, Silverman LM, Barton DE, Bejjani BA, Belloni DR, Bernacki SH, Caggana M, Charache P, Dequeker E, Ferreira-Gonzalez A, Friedman KJ, Greene CL, Grody WW, Highsmith WE Jr, Hinkel CS, Kalman LV, Lubin IM, Lyon E, Payne DA, Pratt VM, Rohlfs E, Rundell CA, Schneider E, Willey AM, Williams LO, Willey JC, Winn-Deen ES, Wolff DJ. Chen B, et al. Among authors: roa bb. Genet Med. 2005 Oct;7(8):534-49. doi: 10.1097/01.gim.0000183043.94406.81. Genet Med. 2005. PMID: 16247292 Free article.

3

Ashkenazi Jewish population frequency of the Bloom syndrome gene 2281 delta 6ins7 mutation.

Roa BB, Savino CV, Richards CS. Roa BB, et al. Genet Test. 1999;3(2):219-21. doi: 10.1089/gte.1999.3.219. Genet Test. 1999. PMID: 10464671

4

Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2.

Roa BB, Boyd AA, Volcik K, Richards CS. Roa BB, et al. Nat Genet. 1996 Oct;14(2):185-7. doi: 10.1038/ng1096-185. Nat Genet. 1996. PMID: 8841191

5

Systemic lupus erythematosus and other autoimmune disorders in children with Noonan syndrome.

Lopez-Rangel E, Malleson PN, Lirenman DS, Roa B, Wiszniewska J, Lewis ME. Lopez-Rangel E, et al. Am J Med Genet A. 2005 Dec 15;139(3):239-42. doi: 10.1002/ajmg.a.31017. Am J Med Genet A. 2005. PMID: 16283670 No abstract available.

6

Genotype-phenotype correlation and frequency of the 3199del6 cystic fibrosis mutation among I148T carriers: results from a collaborative study.

Monaghan KG, Highsmith WE, Amos J, Pratt VM, Roa B, Friez M, Pike-Buchanan LL, Buyse IM, Redman JB, Strom CM, Young AL, Sun W. Monaghan KG, et al. Genet Med. 2004 Sep-Oct;6(5):421-5. doi: 10.1097/01.GIM.0000139507.20179.3A. Genet Med. 2004. PMID: 15371907 Free article.

7

Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene.

Roa BB, Dyck PJ, Marks HG, Chance PF, Lupski JR. Roa BB, et al. Nat Genet. 1993 Nov;5(3):269-73. doi: 10.1038/ng1193-269. Nat Genet. 1993. PMID: 8275092

8

The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A.

Patel PI, Roa BB, Welcher AA, Schoener-Scott R, Trask BJ, Pentao L, Snipes GJ, Garcia CA, Francke U, Shooter EM, Lupski JR, Suter U. Patel PI, et al. Among authors: roa bb. Nat Genet. 1992 Jun;1(3):159-65. doi: 10.1038/ng0692-159. Nat Genet. 1992. PMID: 1303228

9

Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy.

Takashima H, Boerkoel CF, John J, Saifi GM, Salih MA, Armstrong D, Mao Y, Quiocho FA, Roa BB, Nakagawa M, Stockton DW, Lupski JR. Takashima H, et al. Among authors: roa bb. Nat Genet. 2002 Oct;32(2):267-72. doi: 10.1038/ng987. Epub 2002 Sep 16. Nat Genet. 2002. PMID: 12244316

10

Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene.

Roa BB, Garcia CA, Suter U, Kulpa DA, Wise CA, Mueller J, Welcher AA, Snipes GJ, Shooter EM, Patel PI, Lupski JR. Roa BB, et al. N Engl J Med. 1993 Jul 8;329(2):96-101. doi: 10.1056/NEJM199307083290205. N Engl J Med. 1993. PMID: 8510709 Free article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

81 results

Search Page

Filters