Rohlfs EM - Search Results

1

In-frame deletions of BRCA1 may define critical functional domains.

Rohlfs EM, Chung CH, Yang Q, Skrzynia C, Grody WW, Graham ML, Silverman LM. Rohlfs EM, et al. Hum Genet. 2000 Oct;107(4):385-90. doi: 10.1007/s004390000372. Hum Genet. 2000. PMID: 11129340

2

An Alu-mediated 7.1 kb deletion of BRCA1 exons 8 and 9 in breast and ovarian cancer families that results in alternative splicing of exon 10.

Rohlfs EM, Puget N, Graham ML, Weber BL, Garber JE, Skrzynia C, Halperin JL, Lenoir GM, Silverman LM, Mazoyer S. Rohlfs EM, et al. Genes Chromosomes Cancer. 2000 Jul;28(3):300-7. doi: 10.1002/1098-2264(200007)28:3<300::aid-gcc8>3.0.co;2-1. Genes Chromosomes Cancer. 2000. PMID: 10862036

3

Direct detection of mutations in the breast and ovarian cancer susceptibility gene BRCA1 by PCR-mediated site-directed mutagenesis.

Rohlfs EM, Learning WG, Friedman KJ, Couch FJ, Weber BL, Silverman LM. Rohlfs EM, et al. Clin Chem. 1997 Jan;43(1):24-9. Clin Chem. 1997. PMID: 8990217

4

Is the hemochromatosis gene a modifier locus for cystic fibrosis?

Rohlfs EM, Shaheen NJ, Silverman LM. Rohlfs EM, et al. Genet Test. 1998;2(1):85-8. doi: 10.1089/gte.1998.2.85. Genet Test. 1998. PMID: 10464603

5

HFE genotyping using multiplex allele-specific polymerase chain reaction and capillary electrophoresis.

Lubin IM, Yamada NA, Stansel RM, Pace RG, Rohlfs EM, Silverman LM. Lubin IM, et al. Among authors: rohlfs em. Arch Pathol Lab Med. 1999 Dec;123(12):1177-81. doi: 10.1043/1543-2165-123.20.1177. Arch Pathol Lab Med. 1999. PMID: 10583922 Free article.

6

Association between hemochromatosis (HFE) gene mutation carrier status and the risk of colon cancer.

Shaheen NJ, Silverman LM, Keku T, Lawrence LB, Rohlfs EM, Martin CF, Galanko J, Sandler RS. Shaheen NJ, et al. Among authors: rohlfs em. J Natl Cancer Inst. 2003 Jan 15;95(2):154-9. doi: 10.1093/jnci/95.2.154. J Natl Cancer Inst. 2003. PMID: 12529348

7

CFTR mutation distribution among U.S. Hispanic and African American individuals: evaluation in cystic fibrosis patient and carrier screening populations.

Sugarman EA, Rohlfs EM, Silverman LM, Allitto BA. Sugarman EA, et al. Among authors: rohlfs em. Genet Med. 2004 Sep-Oct;6(5):392-9. doi: 10.1097/01.gim.0000139503.22088.66. Genet Med. 2004. PMID: 15371903 Free article.

8

The I148T CFTR allele occurs on multiple haplotypes: a complex allele is associated with cystic fibrosis.

Rohlfs EM, Zhou Z, Sugarman EA, Heim RA, Pace RG, Knowles MR, Silverman LM, Allitto BA. Rohlfs EM, et al. Genet Med. 2002 Sep-Oct;4(5):319-23. doi: 10.1097/00125817-200209000-00001. Genet Med. 2002. PMID: 12394343 Free article.

9

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. Genet Med. 2005 Oct;7(8):534-49. doi: 10.1097/01.gim.0000183043.94406.81. Genet Med. 2005. PMID: 16247292 Free article.

10

Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel.

Watson MS, Cutting GR, Desnick RJ, Driscoll DA, Klinger K, Mennuti M, Palomaki GE, Popovich BW, Pratt VM, Rohlfs EM, Strom CM, Richards CS, Witt DR, Grody WW. Watson MS, et al. Among authors: rohlfs em. Genet Med. 2004 Sep-Oct;6(5):387-91. doi: 10.1097/01.gim.0000139506.11694.7c. Genet Med. 2004. PMID: 15371902 Free PMC article. No abstract available.

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