Sugarman E - Search Results

1

Genetic and physical analysis of double-strand break repair and recombination in Saccharomyces cerevisiae.

Rudin N, Sugarman E, Haber JE. Rudin N, et al. Among authors: sugarman e. Genetics. 1989 Jul;122(3):519-34. doi: 10.1093/genetics/122.3.519. Genetics. 1989. PMID: 2668114 Free PMC article.

2

Paternal isodisomy for chromosome 5 in a child with spinal muscular atrophy.

Brzustowicz LM, Allitto BA, Matseoane D, Theve R, Michaud L, Chatkupt S, Sugarman E, Penchaszadeh GK, Suslak L, Koenigsberger MR, et al. Brzustowicz LM, et al. Among authors: sugarman e. Am J Hum Genet. 1994 Mar;54(3):482-8. Am J Hum Genet. 1994. PMID: 8116617 Free PMC article.

3

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.

4

Analysis of 3208 cystic fibrosis prenatal diagnoses: impact of carrier screening guidelines on distribution of indications for CFTR mutation and IVS-8 poly(T) analyses.

Rohlfs EM, Weinblatt VJ, Treat KJ, Sugarman EA. Rohlfs EM, et al. Genet Med. 2004 Sep-Oct;6(5):400-4. doi: 10.1097/01.gim.0000139504.05850.4b. Genet Med. 2004. PMID: 15371904

5

Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using an expanded, pan-ethnic mutation panel.

Heim RA, Sugarman EA, Allitto BA. Heim RA, et al. Among authors: sugarman ea. Genet Med. 2001 May-Jun;3(3):168-76. doi: 10.1097/00125817-200105000-00004. Genet Med. 2001. PMID: 11388756 Free article.

6

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. Genet Med. 2004 Sep-Oct;6(5):392-9. doi: 10.1097/01.gim.0000139503.22088.66. Genet Med. 2004. PMID: 15371903 Free article.

7

Cystic fibrosis carrier testing in an ethnically diverse US population.

Rohlfs EM, Zhou Z, Heim RA, Nagan N, Rosenblum LS, Flynn K, Scholl T, Akmaev VR, Sirko-Osadsa DA, Allitto BA, Sugarman EA. Rohlfs EM, et al. Clin Chem. 2011 Jun;57(6):841-8. doi: 10.1373/clinchem.2010.159285. Epub 2011 Apr 7. Clin Chem. 2011. PMID: 21474639

8

Cystic fibrosis and chromosome abnormalities associated with echogenic fetal bowel.

Berlin BM, Norton ME, Sugarman EA, Tsipis JE, Allitto BA. Berlin BM, et al. Among authors: sugarman ea. Obstet Gynecol. 1999 Jul;94(1):135-8. doi: 10.1016/s0029-7844(99)00286-0. Obstet Gynecol. 1999. PMID: 10389734

9

Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens.

Sugarman EA, Nagan N, Zhu H, Akmaev VR, Zhou Z, Rohlfs EM, Flynn K, Hendrickson BC, Scholl T, Sirko-Osadsa DA, Allitto BA. Sugarman EA, et al. Eur J Hum Genet. 2012 Jan;20(1):27-32. doi: 10.1038/ejhg.2011.134. Epub 2011 Aug 3. Eur J Hum Genet. 2012. PMID: 21811307 Free PMC article.

10

High allelic heterogeneity between Afro-Brazilians and Euro-Brazilians impacts cystic fibrosis genetic testing.

Raskin S, Pereira L, Reis F, Rosario NA, Ludwig N, Valentim L, Phillips JA 3rd, Allito B, Heim RA, Sugarman EA, Probst CM, Faucz F, Culpi L. Raskin S, et al. Genet Test. 2003 Fall;7(3):213-8. doi: 10.1089/109065703322537223. Genet Test. 2003. PMID: 14641997

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