Bolk S - Search Results

1

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

2

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

3

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

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

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

6

A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus.

Bolk S, Pelet A, Hofstra RM, Angrist M, Salomon R, Croaker D, Buys CH, Lyonnet S, Chakravarti A. Bolk S, et al. Proc Natl Acad Sci U S A. 2000 Jan 4;97(1):268-73. doi: 10.1073/pnas.97.1.268. Proc Natl Acad Sci U S A. 2000. PMID: 10618407 Free PMC article.

7

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

8

Elevated frequency and allelic heterogeneity of congenital nephrotic syndrome, Finnish type, in the old order Mennonites.

Bolk S, Puffenberger EG, Hudson J, Morton DH, Chakravarti A. Bolk S, et al. Am J Hum Genet. 1999 Dec;65(6):1785-90. doi: 10.1086/302687. Am J Hum Genet. 1999. PMID: 10577936 Free PMC article. No abstract available.

9

Endothelin-3 frameshift mutation in congenital central hypoventilation syndrome.

Bolk S, Angrist M, Xie J, Yanagisawa M, Silvestri JM, Weese-Mayer DE, Chakravarti A. Bolk S, et al. Nat Genet. 1996 Aug;13(4):395-6. doi: 10.1038/ng0896-395. Nat Genet. 1996. PMID: 8696331 No abstract available.

10

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

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