Peiffer A - Search Results

1

Microcephaly with simplified gyral pattern in six related children.

Peiffer A, Singh N, Leppert M, Dobyns WB, Carey JC. Peiffer A, et al. Am J Med Genet. 1999 May 21;84(2):137-44. doi: 10.1002/(sici)1096-8628(19990521)84:2<137::aid-ajmg10>3.0.co;2-j. Am J Med Genet. 1999. PMID: 10323739

2

A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome.

Singh NA, Pappas C, Dahle EJ, Claes LR, Pruess TH, De Jonghe P, Thompson J, Dixon M, Gurnett C, Peiffer A, White HS, Filloux F, Leppert MF. Singh NA, et al. Among authors: peiffer a. PLoS Genet. 2009 Sep;5(9):e1000649. doi: 10.1371/journal.pgen.1000649. Epub 2009 Sep 18. PLoS Genet. 2009. PMID: 19763161 Free PMC article.

3

A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns.

Singh NA, Charlier C, Stauffer D, DuPont BR, Leach RJ, Melis R, Ronen GM, Bjerre I, Quattlebaum T, Murphy JV, McHarg ML, Gagnon D, Rosales TO, Peiffer A, Anderson VE, Leppert M. Singh NA, et al. Among authors: peiffer a. Nat Genet. 1998 Jan;18(1):25-9. doi: 10.1038/ng0198-25. Nat Genet. 1998. PMID: 9425895

4

A locus for febrile seizures (FEB3) maps to chromosome 2q23-24.

Peiffer A, Thompson J, Charlier C, Otterud B, Varvil T, Pappas C, Barnitz C, Gruenthal K, Kuhn R, Leppert M. Peiffer A, et al. Ann Neurol. 1999 Oct;46(4):671-8. doi: 10.1002/1531-8249(199910)46:4<671::aid-ana20>3.0.co;2-5. Ann Neurol. 1999. PMID: 10514109

5

AGT genetic variation, plasma AGT, and blood pressure: An analysis of the Utah Genetic Reference Project pedigrees.

Watkins WS, Rohrwasser A, Peiffer A, Leppert MF, Lalouel JM, Jorde LB. Watkins WS, et al. Among authors: peiffer a. Am J Hypertens. 2010 Aug;23(8):917-23. doi: 10.1038/ajh.2010.83. Epub 2010 Apr 22. Am J Hypertens. 2010. PMID: 20414195

6

Genes for rare idiopathic generalized epilepsies: BFNC.

Singh N, Charlier C, Peiffer A, Stauffer D, Melis R, Enoch MA, Goldman D, Rogers S, Anderson VE, Leppert M. Singh N, et al. Among authors: peiffer a. Adv Neurol. 1999;79:341-50. Adv Neurol. 1999. PMID: 10514825 Review. No abstract available.

7

Further evidence for the role of genes on chromosome 2 and chromosome 5 in the inheritance of pulmonary function.

Malhotra A, Peiffer AP, Ryujin DT, Elsner T, Kanner RE, Leppert MF, Hasstedt SJ. Malhotra A, et al. Among authors: peiffer ap. Am J Respir Crit Care Med. 2003 Sep 1;168(5):556-61. doi: 10.1164/rccm.200303-410OC. Epub 2003 Jun 5. Am J Respir Crit Care Med. 2003. PMID: 12791583

8

A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.

Allikmets R, Singh N, Sun H, Shroyer NF, Hutchinson A, Chidambaram A, Gerrard B, Baird L, Stauffer D, Peiffer A, Rattner A, Smallwood P, Li Y, Anderson KL, Lewis RA, Nathans J, Leppert M, Dean M, Lupski JR. Allikmets R, et al. Among authors: peiffer a. Nat Genet. 1997 Mar;15(3):236-46. doi: 10.1038/ng0397-236. Nat Genet. 1997. PMID: 9054934

9

Quantitative trait loci on chromosomes 1, 2, 3, 4, 8, 9, 11, 12, and 18 control variation in levels of T and B lymphocyte subpopulations.

Hall MA, Norman PJ, Thiel B, Tiwari H, Peiffer A, Vaughan RW, Prescott S, Leppert M, Schork NJ, Lanchbury JS. Hall MA, et al. Among authors: peiffer a. Am J Hum Genet. 2002 May;70(5):1172-82. doi: 10.1086/340090. Epub 2002 Apr 9. Am J Hum Genet. 2002. PMID: 11951176 Free PMC article.

10

Genetic analysis of a complex trait in the Utah Genetic Reference Project: a major locus for PTC taste ability on chromosome 7q and a secondary locus on chromosome 16p.

Drayna D, Coon H, Kim UK, Elsner T, Cromer K, Otterud B, Baird L, Peiffer AP, Leppert M; Utah Genetic Reference Project. Drayna D, et al. Hum Genet. 2003 May;112(5-6):567-72. doi: 10.1007/s00439-003-0911-y. Epub 2003 Mar 6. Hum Genet. 2003. PMID: 12624758

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