Bolk S - Search Results

1

Linkage disequilibrium in the human genome.

Reich DE, Cargill M, Bolk S, Ireland J, Sabeti PC, Richter DJ, Lavery T, Kouyoumjian R, Farhadian SF, Ward R, Lander ES. Reich DE, et al. Among authors: bolk s. Nature. 2001 May 10;411(6834):199-204. doi: 10.1038/35075590. Nature. 2001. PMID: 11346797

2

The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes.

Altshuler D, Hirschhorn JN, Klannemark M, Lindgren CM, Vohl MC, Nemesh J, Lane CR, Schaffner SF, Bolk S, Brewer C, Tuomi T, Gaudet D, Hudson TJ, Daly M, Groop L, Lander ES. Altshuler D, et al. Among authors: bolk s. Nat Genet. 2000 Sep;26(1):76-80. doi: 10.1038/79216. Nat Genet. 2000. PMID: 10973253

3

SBE-TAGS: an array-based method for efficient single-nucleotide polymorphism genotyping.

Hirschhorn JN, Sklar P, Lindblad-Toh K, Lim YM, Ruiz-Gutierrez M, Bolk S, Langhorst B, Schaffner S, Winchester E, Lander ES. Hirschhorn JN, et al. Among authors: bolk s. Proc Natl Acad Sci U S A. 2000 Oct 24;97(22):12164-9. doi: 10.1073/pnas.210394597. Proc Natl Acad Sci U S A. 2000. PMID: 11035790 Free PMC article.

4

Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient.

Angrist M, Bolk S, Halushka M, Lapchak PA, Chakravarti A. Angrist M, et al. Among authors: bolk s. Nat Genet. 1996 Nov;14(3):341-4. doi: 10.1038/ng1196-341. Nat Genet. 1996. PMID: 8896568

5

Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease.

Angrist M, Bolk S, Thiel B, Puffenberger EG, Hofstra RM, Buys CH, Cass DT, Chakravarti A. Angrist M, et al. Among authors: bolk s. Hum Mol Genet. 1995 May;4(5):821-30. doi: 10.1093/hmg/4.5.821. Hum Mol Genet. 1995. PMID: 7633441

6

Congenital central hypoventilation syndrome: mutation analysis of the receptor tyrosine kinase RET.

Bolk S, Angrist M, Schwartz S, Silvestri JM, Weese-Mayer DE, Chakravarti A. Bolk S, et al. Am J Med Genet. 1996 Jun 28;63(4):603-9. doi: 10.1002/(SICI)1096-8628(19960628)63:4<603::AID-AJMG14>3.0.CO;2-M. Am J Med Genet. 1996. PMID: 8826440

7

Human GFRA1: cloning, mapping, genomic structure, and evaluation as a candidate gene for Hirschsprung disease susceptibility.

Angrist M, Jing S, Bolk S, Bentley K, Nallasamy S, Halushka M, Fox GM, Chakravarti A. Angrist M, et al. Among authors: bolk s. Genomics. 1998 Mar 15;48(3):354-62. doi: 10.1006/geno.1997.5191. Genomics. 1998. PMID: 9545641

8

Genomic structure of the gene for the SH2 and pleckstrin homology domain-containing protein GRB10 and evaluation of its role in Hirschsprung disease.

Angrist M, Bolk S, Bentley K, Nallasamy S, Halushka MK, Chakravarti A. Angrist M, et al. Among authors: bolk s. Oncogene. 1998 Dec 10;17(23):3065-70. doi: 10.1038/sj.onc.1202226. Oncogene. 1998. PMID: 9881709

9

Idiopathic congenital central hypoventilation syndrome: evaluation of brain-derived neurotrophic factor genomic DNA sequence variation.

Weese-Mayer DE, Bolk S, Silvestri JM, Chakravarti A. Weese-Mayer DE, et al. Among authors: bolk s. Am J Med Genet. 2002 Feb 1;107(4):306-10. doi: 10.1002/ajmg.10133. Am J Med Genet. 2002. PMID: 11840487

10

Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22.

Puffenberger EG, Kauffman ER, Bolk S, Matise TC, Washington SS, Angrist M, Weissenbach J, Garver KL, Mascari M, Ladda R, et al. Puffenberger EG, et al. Among authors: bolk s. Hum Mol Genet. 1994 Aug;3(8):1217-25. doi: 10.1093/hmg/3.8.1217. Hum Mol Genet. 1994. PMID: 7987295

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