Puffenberger EG - Search Results

1

Allele frequency distributions in pooled DNA samples: applications to mapping complex disease genes.

Shaw SH, Carrasquillo MM, Kashuk C, Puffenberger EG, Chakravarti A. Shaw SH, et al. Among authors: puffenberger eg. Genome Res. 1998 Feb;8(2):111-23. doi: 10.1101/gr.8.2.111. Genome Res. 1998. PMID: 9477339 Free article.

2

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: puffenberger eg. Hum Mol Genet. 1995 May;4(5):821-30. doi: 10.1093/hmg/4.5.821. Hum Mol Genet. 1995. PMID: 7633441

3

Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease.

Carrasquillo MM, McCallion AS, Puffenberger EG, Kashuk CS, Nouri N, Chakravarti A. Carrasquillo MM, et al. Among authors: puffenberger eg. Nat Genet. 2002 Oct;32(2):237-44. doi: 10.1038/ng998. Epub 2002 Sep 23. Nat Genet. 2002. PMID: 12355085

4

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. Among authors: puffenberger eg. 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.

5

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. Hum Mol Genet. 1994 Aug;3(8):1217-25. doi: 10.1093/hmg/3.8.1217. Hum Mol Genet. 1994. PMID: 7987295

6

A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10.

Angrist M, Kauffman E, Slaugenhaupt SA, Matise TC, Puffenberger EG, Washington SS, Lipson A, Cass DT, Reyna T, Weeks DE, et al. Angrist M, et al. Among authors: puffenberger eg. Nat Genet. 1993 Aug;4(4):351-6. doi: 10.1038/ng0893-351. Nat Genet. 1993. PMID: 8401581

7

A population-based study of KCNH7 p.Arg394His and bipolar spectrum disorder.

Strauss KA, Markx S, Georgi B, Paul SM, Jinks RN, Hoshi T, McDonald A, First MB, Liu W, Benkert AR, Heaps AD, Tian Y, Chakravarti A, Bucan M, Puffenberger EG. Strauss KA, et al. Among authors: puffenberger eg. Hum Mol Genet. 2014 Dec 1;23(23):6395-406. doi: 10.1093/hmg/ddu335. Epub 2014 Jun 30. Hum Mol Genet. 2014. PMID: 24986916 Free PMC article.

8

A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease.

Puffenberger EG, Hosoda K, Washington SS, Nakao K, deWit D, Yanagisawa M, Chakravart A. Puffenberger EG, et al. Cell. 1994 Dec 30;79(7):1257-66. doi: 10.1016/0092-8674(94)90016-7. Cell. 1994. PMID: 8001158

9

Identification of disease causing loci using an array-based genotyping approach on pooled DNA.

Craig DW, Huentelman MJ, Hu-Lince D, Zismann VL, Kruer MC, Lee AM, Puffenberger EG, Pearson JM, Stephan DA. Craig DW, et al. Among authors: puffenberger eg. BMC Genomics. 2005 Sep 30;6:138. doi: 10.1186/1471-2164-6-138. BMC Genomics. 2005. PMID: 16197552 Free PMC article.

10

Fine mapping of the nail-patella syndrome locus at 9q34.

McIntosh I, Clough MV, Schäffer AA, Puffenberger EG, Horton VK, Peters K, Abbott MH, Roig CM, Cutone S, Ozelius L, Kwiatkowski DJ, Pyeritz RE, Brown LJ, Pauli RM, McCormick MK, Francomano CA. McIntosh I, et al. Among authors: puffenberger eg. Am J Hum Genet. 1997 Jan;60(1):133-42. Am J Hum Genet. 1997. PMID: 8981956 Free PMC article.

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