Puffenberger EG - Search Results

1

Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation.

Xin B, Puffenberger EG, Turben S, Tan H, Zhou A, Wang H. Xin B, et al. Among authors: puffenberger eg. Proc Natl Acad Sci U S A. 2010 Jan 5;107(1):258-63. doi: 10.1073/pnas.0908457107. Epub 2009 Dec 14. Proc Natl Acad Sci U S A. 2010. PMID: 20018682 Free PMC article.

2

Abnormal hepatic sinusoidal bile acid transport in an Amish kindred is not linked to FIC1 and is improved by ursodiol.

Morton DH, Salen G, Batta AK, Shefer S, Tint GS, Belchis D, Shneider B, Puffenberger E, Bull L, Knisely AS. Morton DH, et al. Gastroenterology. 2000 Jul;119(1):188-95. doi: 10.1053/gast.2000.8547. Gastroenterology. 2000. PMID: 10889168

3

Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function.

Puffenberger EG, Hu-Lince D, Parod JM, Craig DW, Dobrin SE, Conway AR, Donarum EA, Strauss KA, Dunckley T, Cardenas JF, Melmed KR, Wright CA, Liang W, Stafford P, Flynn CR, Morton DH, Stephan DA. Puffenberger EG, et al. Proc Natl Acad Sci U S A. 2004 Aug 10;101(32):11689-94. doi: 10.1073/pnas.0401194101. Epub 2004 Jul 23. Proc Natl Acad Sci U S A. 2004. PMID: 15273283 Free PMC article.

4

Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy.

Nakabayashi K, Amann D, Ren Y, Saarialho-Kere U, Avidan N, Gentles S, MacDonald JR, Puffenberger EG, Christiano AM, Martinez-Mir A, Salas-Alanis JC, Rizzo R, Vamos E, Raams A, Les C, Seboun E, Jaspers NG, Beckmann JS, Jackson CE, Scherer SW. Nakabayashi K, et al. Among authors: puffenberger eg. Am J Hum Genet. 2005 Mar;76(3):510-6. doi: 10.1086/428141. Epub 2005 Jan 11. Am J Hum Genet. 2005. PMID: 15645389 Free PMC article.

5

Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2.

Strauss KA, Puffenberger EG, Huentelman MJ, Gottlieb S, Dobrin SE, Parod JM, Stephan DA, Morton DH. Strauss KA, et al. Among authors: puffenberger eg. N Engl J Med. 2006 Mar 30;354(13):1370-7. doi: 10.1056/NEJMoa052773. N Engl J Med. 2006. PMID: 16571880

6

Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5.

Puffenberger EG, Strauss KA, Ramsey KE, Craig DW, Stephan DA, Robinson DL, Hendrickson CL, Gottlieb S, Ramsay DA, Siu VM, Heuer GG, Crino PB, Morton DH. Puffenberger EG, et al. Brain. 2007 Jul;130(Pt 7):1929-41. doi: 10.1093/brain/awm100. Epub 2007 May 23. Brain. 2007. PMID: 17522105

7

Phenylalanine hydroxylase deficiency exhibits mutation heterogeneity in two large old order Amish settlements.

Wang H, Nye L, Puffenberger E, Morton H. Wang H, et al. Am J Med Genet A. 2007 Aug 15;143A(16):1938-40. doi: 10.1002/ajmg.a.31852. Am J Med Genet A. 2007. PMID: 17630668 No abstract available.

8

Homozygosity for a novel splice site mutation in the cardiac myosin-binding protein C gene causes severe neonatal hypertrophic cardiomyopathy.

Xin B, Puffenberger E, Tumbush J, Bockoven JR, Wang H. Xin B, et al. Am J Med Genet A. 2007 Nov 15;143A(22):2662-7. doi: 10.1002/ajmg.a.31981. Am J Med Genet A. 2007. PMID: 17937428

9

Clinical application of DNA microarrays: molecular diagnosis and HLA matching of an Amish child with severe combined immune deficiency.

Strauss KA, Puffenberger EG, Bunin N, Rider NL, Morton MC, Eastman JT 3rd, Morton DH. Strauss KA, et al. Among authors: puffenberger eg. Clin Immunol. 2008 Jul;128(1):31-8. doi: 10.1016/j.clim.2008.02.016. Epub 2008 Apr 28. Clin Immunol. 2008. PMID: 18442948

10

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

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