Eng C - 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: eng c. Mol Genet Metab. 1998 Aug;64(4):286-90. doi: 10.1006/mgme.1998.2733. Mol Genet Metab. 1998. PMID: 9758720

2

Fabry disease: comparison of enzymatic, linkage, and mutation analysis for carrier detection in a family with a novel mutation (30delG).

Ashton-Prolla P, Ashley GA, Giugliani R, Pires RF, Desnick RJ, Eng CM. Ashton-Prolla P, et al. Among authors: eng cm. Am J Med Genet. 1999 Jun 11;84(5):420-4. doi: 10.1002/(sici)1096-8628(19990611)84:5<420::aid-ajmg6>3.0.co;2-z. Am J Med Genet. 1999. PMID: 10360396

3

Nonradioactive detection of the common Connexin 26 167delT and 35delG mutations and frequencies among Ashkenazi Jews.

Dong J, Katz DR, Eng CM, Kornreich R, Desnick RJ. Dong J, et al. Among authors: eng cm. Mol Genet Metab. 2001 Jun;73(2):160-3. doi: 10.1006/mgme.2001.3182. Mol Genet Metab. 2001. PMID: 11386851

4

Experiences in molecular-based prenatal screening for Ashkenazi Jewish genetic diseases.

Eng CM, Desnick RJ. Eng CM, et al. Adv Genet. 2001;44:275-96. doi: 10.1016/s0065-2660(01)44086-7. Adv Genet. 2001. PMID: 11596990 Review.

5

Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.

Eng CM, Resnick-Silverman LA, Niehaus DJ, Astrin KH, Desnick RJ. Eng CM, et al. Am J Hum Genet. 1993 Dec;53(6):1186-97. Am J Hum Genet. 1993. PMID: 7504405 Free PMC article.

6

Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene.

Eng CM, Niehaus DJ, Enriquez AL, Burgert TS, Ludman MD, Desnick RJ. Eng CM, et al. Hum Mol Genet. 1994 Oct;3(10):1795-9. doi: 10.1093/hmg/3.10.1795. Hum Mol Genet. 1994. PMID: 7531540

7

Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene.

Eng CM, Desnick RJ. Eng CM, et al. Hum Mutat. 1994;3(2):103-11. doi: 10.1002/humu.1380030204. Hum Mutat. 1994. PMID: 7911050 Review.

8

Prenatal diagnosis of familial dysautonomia by analysis of linked CA-repeat polymorphisms on chromosome 9q31-q33.

Eng CM, Slaugenhaupt SA, Blumenfeld A, Axelrod FB, Gusella JF, Desnick RJ. Eng CM, et al. Am J Med Genet. 1995 Nov 20;59(3):349-55. doi: 10.1002/ajmg.1320590314. Am J Med Genet. 1995. PMID: 8599360

9

Molecular prenatal diagnosis of glycogen storage disease type Ia.

Qu Y, Abdenur JE, Eng CM, Desnick RJ. Qu Y, et al. Among authors: eng cm. Prenat Diagn. 1996 Apr;16(4):333-6. doi: 10.1002/(SICI)1097-0223(199604)16:4<333::AID-PD861>3.0.CO;2-G. Prenat Diagn. 1996. PMID: 8734807

10

Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes.

Eng CM, Ashley GA, Burgert TS, Enriquez AL, D'Souza M, Desnick RJ. Eng CM, et al. Mol Med. 1997 Mar;3(3):174-82. Mol Med. 1997. PMID: 9100224 Free PMC article.

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