Ellis NA - Search Results

1

Carrier frequency of the Bloom syndrome blmAsh mutation in the Ashkenazi Jewish population.

Li L, Eng C, Desnick RJ, German J, Ellis NA. Li L, et al. Among authors: ellis na. Mol Genet Metab. 1998 Aug;64(4):286-90. doi: 10.1006/mgme.1998.2733. Mol Genet Metab. 1998. PMID: 9758720

2

A rapid method for detecting the predominant Ashkenazi Jewish mutation in the Bloom's syndrome gene.

Straughen JE, Johnson J, McLaren D, Proytcheva M, Ellis N, German J, Groden J. Straughen JE, et al. Hum Mutat. 1998;11(2):175-8. doi: 10.1002/(SICI)1098-1004(1998)11:2<175::AID-HUMU11>3.0.CO;2-W. Hum Mutat. 1998. PMID: 9482582

3

Linkage disequilibrium between the FES, D15S127, and BLM loci in Ashkenazi Jews with Bloom syndrome.

Ellis NA, Roe AM, Kozloski J, Proytcheva M, Falk C, German J. Ellis NA, et al. Am J Hum Genet. 1994 Sep;55(3):453-60. Am J Hum Genet. 1994. PMID: 8079989 Free PMC article.

4

Bloom's syndrome. XIX. Cytogenetic and population evidence for genetic heterogeneity.

German J, Ellis NA, Proytcheva M. German J, et al. Among authors: ellis na. Clin Genet. 1996 May;49(5):223-31. doi: 10.1111/j.1399-0004.1996.tb03778.x. Clin Genet. 1996. PMID: 8832129

5

Molecular genetics of Bloom's syndrome.

Ellis NA, German J. Ellis NA, et al. Hum Mol Genet. 1996;5 Spec No:1457-63. doi: 10.1093/hmg/5.supplement_1.1457. Hum Mol Genet. 1996. PMID: 8875252 Review.

6

The Ashkenazic Jewish Bloom syndrome mutation blmAsh is present in non-Jewish Americans of Spanish ancestry.

Ellis NA, Ciocci S, Proytcheva M, Lennon D, Groden J, German J. Ellis NA, et al. Am J Hum Genet. 1998 Dec;63(6):1685-93. doi: 10.1086/302167. Am J Hum Genet. 1998. PMID: 9837821 Free PMC article.

7

Back mutation can produce phenotype reversion in Bloom syndrome somatic cells.

Ellis NA, Ciocci S, German J. Ellis NA, et al. Hum Genet. 2001 Feb;108(2):167-73. doi: 10.1007/s004390000447. Hum Genet. 2001. PMID: 11281456

8

Somatic intragenic recombination within the mutated locus BLM can correct the high sister-chromatid exchange phenotype of Bloom syndrome cells.

Ellis NA, Lennon DJ, Proytcheva M, Alhadeff B, Henderson EE, German J. Ellis NA, et al. Am J Hum Genet. 1995 Nov;57(5):1019-27. Am J Hum Genet. 1995. PMID: 7485150 Free PMC article.

9

Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry.

German J, Sanz MM, Ciocci S, Ye TZ, Ellis NA. German J, et al. Among authors: ellis na. Hum Mutat. 2007 Aug;28(8):743-53. doi: 10.1002/humu.20501. Hum Mutat. 2007. PMID: 17407155

10

The Bloom's syndrome gene product is homologous to RecQ helicases.

Ellis NA, Groden J, Ye TZ, Straughen J, Lennon DJ, Ciocci S, Proytcheva M, German J. Ellis NA, et al. Cell. 1995 Nov 17;83(4):655-66. doi: 10.1016/0092-8674(95)90105-1. Cell. 1995. PMID: 7585968 Free article.

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