Puffenberger EG - Search Results

1

Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene.

Dietz HC, Pyeritz RE, Puffenberger EG, Kendzior RJ Jr, Corson GM, Maslen CL, Sakai LY, Francomano CA, Cutting GR. Dietz HC, et al. Among authors: puffenberger eg. J Clin Invest. 1992 May;89(5):1674-80. doi: 10.1172/JCI115766. J Clin Invest. 1992. PMID: 1569206 Free PMC article.

2

Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene.

Dietz HC, Cutting GR, Pyeritz RE, Maslen CL, Sakai LY, Corson GM, Puffenberger EG, Hamosh A, Nanthakumar EJ, Curristin SM, et al. Dietz HC, et al. Among authors: puffenberger eg. Nature. 1991 Jul 25;352(6333):337-9. doi: 10.1038/352337a0. Nature. 1991. PMID: 1852208

3

PCR-based detection of polymorphic DdeI and KpnI sites in intron 5 of the adenylate kinase (AK1) gene.

Puffenberger EG, Francomano CA. Puffenberger EG, et al. Nucleic Acids Res. 1991 Mar 11;19(5):1161. doi: 10.1093/nar/19.5.1161. Nucleic Acids Res. 1991. PMID: 1673557 Free PMC article.

4

Molecular genetic analysis in autosomal dominant keratoconus.

Rabinowitz YS, Maumenee IH, Lundergan MK, Puffenberger E, Zhu D, Antonarakis S, Francomano CA. Rabinowitz YS, et al. Cornea. 1992 Jul;11(4):302-8. doi: 10.1097/00003226-199207000-00005. Cornea. 1992. PMID: 1358551

5

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.

6

Genetic heterogeneity in families with hereditary multiple exostoses.

Cook A, Raskind W, Blanton SH, Pauli RM, Gregg RG, Francomano CA, Puffenberger E, Conrad EU, Schmale G, Schellenberg G, et al. Cook A, et al. Am J Hum Genet. 1993 Jul;53(1):71-9. Am J Hum Genet. 1993. PMID: 8317501 Free PMC article.

7

A novel mutation in the GDAP1 gene is associated with autosomal recessive Charcot-Marie-Tooth disease in an Amish family.

Xin B, Puffenberger E, Nye L, Wiznitzer M, Wang H. Xin B, et al. Clin Genet. 2008 Sep;74(3):274-8. doi: 10.1111/j.1399-0004.2008.01018.x. Epub 2008 May 19. Clin Genet. 2008. PMID: 18492089

8

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

9

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

10

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.

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