Puffenberger EG - Search Results

1

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

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

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

4

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

5

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.

6

Human ITCH E3 ubiquitin ligase deficiency causes syndromic multisystem autoimmune disease.

Lohr NJ, Molleston JP, Strauss KA, Torres-Martinez W, Sherman EA, Squires RH, Rider NL, Chikwava KR, Cummings OW, Morton DH, Puffenberger EG. Lohr NJ, et al. Among authors: puffenberger eg. Am J Hum Genet. 2010 Mar 12;86(3):447-53. doi: 10.1016/j.ajhg.2010.01.028. Epub 2010 Feb 18. Am J Hum Genet. 2010. PMID: 20170897 Free PMC article.

7

Genetic mapping of glutaric aciduria, type 3, to chromosome 7 and identification of mutations in c7orf10.

Sherman EA, Strauss KA, Tortorelli S, Bennett MJ, Knerr I, Morton DH, Puffenberger EG. Sherman EA, et al. Among authors: puffenberger eg. Am J Hum Genet. 2008 Nov;83(5):604-9. doi: 10.1016/j.ajhg.2008.09.018. Am J Hum Genet. 2008. PMID: 18926513 Free PMC article.

8

Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8.

Boycott KM, Beaulieu CL, Kernohan KD, Gebril OH, Mhanni A, Chudley AE, Redl D, Qin W, Hampson S, Küry S, Tetreault M, Puffenberger EG, Scott JN, Bezieau S, Reis A, Uebe S, Schumacher J, Hegele RA, McLeod DR, Gálvez-Peralta M, Majewski J, Ramaekers VT; Care4Rare Canada Consortium; Nebert DW, Innes AM, Parboosingh JS, Abou Jamra R. Boycott KM, et al. Among authors: puffenberger eg. Am J Hum Genet. 2015 Dec 3;97(6):886-93. doi: 10.1016/j.ajhg.2015.11.002. Am J Hum Genet. 2015. PMID: 26637978 Free PMC article.

9

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.

10

Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease.

Williams KB, Brigatti KW, Puffenberger EG, Gonzaga-Jauregui C, Griffin LB, Martinez ED, Wenger OK, Yoder MA, Kandula VVR, Fox MD, Demczko MM, Poskitt L, Furuya KN, Reid JG, Overton JD, Baras A, Miles L, Radhakrishnan K, Carson VJ, Antonellis A, Jinks RN, Strauss KA. Williams KB, et al. Among authors: puffenberger eg. Hum Mol Genet. 2019 Feb 15;28(4):525-538. doi: 10.1093/hmg/ddy344. Hum Mol Genet. 2019. PMID: 30304524 Free PMC article.

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