Snow K - Search Results

1

False-positive Y-microdeletion result for a fertile male caused by an alteration under a PCR primer.

Thornhill AR, Guenther AJ, Barbarotto GM, Session DR, Damario MA, Dumesic DA, Snow K. Thornhill AR, et al. Among authors: snow k. Int J Androl. 2002 Dec;25(6):352-7. doi: 10.1046/j.1365-2605.2002.00377.x. Int J Androl. 2002. PMID: 12406367

2

Molecular diagnostics in preimplantation genetic diagnosis.

Thornhill AR, Snow K. Thornhill AR, et al. Among authors: snow k. J Mol Diagn. 2002 Feb;4(1):11-29. doi: 10.1016/S1525-1578(10)60676-9. J Mol Diagn. 2002. PMID: 11826184 Free PMC article. Review. No abstract available.

3

Frequency and clinical significance of the S1235R mutation in the cystic fibrosis transmembrane conductance regulator gene: results from a collaborative study.

Monaghan KG, Feldman GL, Barbarotto GM, Manji S, Desai TK, Snow K. Monaghan KG, et al. Among authors: snow k. Am J Med Genet. 2000 Dec 11;95(4):361-5. Am J Med Genet. 2000. PMID: 11186891

4

The polymerase chain reaction. Applications in dermatology.

Snow JL, Snow K, Pittelkow MR. Snow JL, et al. Among authors: snow k. J Dermatol Surg Oncol. 1993 Sep;19(9):831-45. doi: 10.1111/j.1524-4725.1993.tb01016.x. J Dermatol Surg Oncol. 1993. PMID: 8366219 Review.

5

Identification of a 55-bp deletion in the glucocerebrosidase gene in Gaucher disease: phenotypic presentation and implications for mutation detection assays.

Mao R, O'Brien JF, Rao S, Schmitt E, Roa B, Feldman GL, Spence WC, Snow K. Mao R, et al. Among authors: snow k. Mol Genet Metab. 2001 Mar;72(3):248-53. doi: 10.1006/mgme.2000.3141. Mol Genet Metab. 2001. PMID: 11243731

6

Extreme expansion detection in spinocerebellar ataxia type 2 and type 7.

Snow K, Mao R. Snow K, et al. Methods Mol Biol. 2003;217:41-50. doi: 10.1385/1-59259-330-5:41. Methods Mol Biol. 2003. PMID: 12491919 No abstract available.

7

Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1.

Park WD, O'Brien JF, Lundquist PA, Kraft DL, Vockley CW, Karnes PS, Patterson MC, Snow K. Park WD, et al. Among authors: snow k. Hum Mutat. 2003 Oct;22(4):313-25. doi: 10.1002/humu.10255. Hum Mutat. 2003. PMID: 12955717

8

Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population.

Snow K, Doud LK, Hagerman R, Pergolizzi RG, Erster SH, Thibodeau SN. Snow K, et al. Am J Hum Genet. 1993 Dec;53(6):1217-28. Am J Hum Genet. 1993. PMID: 7902673 Free PMC article.

9

Childhood-onset ataxia: testing for large CAG-repeats in SCA2 and SCA7.

Mao R, Aylsworth AS, Potter N, Wilson WG, Breningstall G, Wick MJ, Babovic-Vuksanovic D, Nance M, Patterson MC, Gomez CM, Snow K. Mao R, et al. Among authors: snow k. Am J Med Genet. 2002 Jul 15;110(4):338-45. doi: 10.1002/ajmg.10467. Am J Med Genet. 2002. PMID: 12116207

10

A search for germline APC mutations in early onset colorectal cancer or familial colorectal cancer with normal DNA mismatch repair.

Boardman LA, Schmidt S, Lindor NM, Burgart LJ, Cunningham JM, Price-Troska T, Snow K, Ahlquist DA, Thibodeau SN. Boardman LA, et al. Among authors: snow k. Genes Chromosomes Cancer. 2001 Feb;30(2):181-6. Genes Chromosomes Cancer. 2001. PMID: 11135435

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