Ensenauer RE - Search Results

1

Primer on medical genomics. Part VIII: Essentials of medical genetics for the practicing physician.

Ensenauer RE, Reinke SS, Ackerman MJ, Tester DJ, Whiteman DA, Tefferi A. Ensenauer RE, et al. Mayo Clin Proc. 2003 Jul;78(7):846-57. doi: 10.4065/78.7.846. Mayo Clin Proc. 2003. PMID: 12839081 Review.

2

Genetic testing: practical, ethical, and counseling considerations.

Ensenauer RE, Michels VV, Reinke SS. Ensenauer RE, et al. Mayo Clin Proc. 2005 Jan;80(1):63-73. doi: 10.1016/S0025-6196(11)62960-1. Mayo Clin Proc. 2005. PMID: 15667031 Review.

3

Unbalanced cryptic 5p deletion/17p duplication identified by subtelomeric FISH in a family with a boy with chimerism and a balanced t(4;5).

Ensenauer R, Jalal S, Meyer R, Babovic-Vuksanovic D. Ensenauer R, et al. Am J Med Genet A. 2004 Feb 15;125A(1):86-91. doi: 10.1002/ajmg.a.20420. Am J Med Genet A. 2004. PMID: 14755472

4

Subtelomeric deletion of 18p in an adult with paranoid schizophrenia and mental retardation.

Babovic-Vuksanovic D, Jenkins SC, Ensenauer R, Newman DC, Jalal SM. Babovic-Vuksanovic D, et al. Am J Med Genet A. 2004 Jan 30;124A(3):318-22. doi: 10.1002/ajmg.a.20391. Am J Med Genet A. 2004. PMID: 14708108

5

Genotypic differences of MCAD deficiency in the Asian population: novel genotype and clinical symptoms preceding newborn screening notification.

Ensenauer R, Winters JL, Parton PA, Kronn DF, Kim JW, Matern D, Rinaldo P, Hahn SH. Ensenauer R, et al. Genet Med. 2005 May-Jun;7(5):339-43. doi: 10.1097/01.gim.0000164548.54482.9d. Genet Med. 2005. PMID: 15915086 Free article.

6

Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients.

Ensenauer RE, Adeyinka A, Flynn HC, Michels VV, Lindor NM, Dawson DB, Thorland EC, Lorentz CP, Goldstein JL, McDonald MT, Smith WE, Simon-Fayard E, Alexander AA, Kulharya AS, Ketterling RP, Clark RD, Jalal SM. Ensenauer RE, et al. Am J Hum Genet. 2003 Nov;73(5):1027-40. doi: 10.1086/378818. Epub 2003 Oct 2. Am J Hum Genet. 2003. PMID: 14526392 Free PMC article.

7

Utility of subtelomeric fluorescent DNA probes for detection of chromosome anomalies in 425 patients.

Jalal SM, Harwood AR, Sekhon GS, Pham Lorentz C, Ketterling RP, Babovic-Vuksanovic D, Meyer RG, Ensenauer R, Anderson MH Jr, Michels VV. Jalal SM, et al. Genet Med. 2003 Jan-Feb;5(1):28-34. doi: 10.1097/00125817-200301000-00005. Genet Med. 2003. PMID: 12544473 Free article.

8

A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening.

Ensenauer R, Vockley J, Willard JM, Huey JC, Sass JO, Edland SD, Burton BK, Berry SA, Santer R, Grünert S, Koch HG, Marquardt I, Rinaldo P, Hahn S, Matern D. Ensenauer R, et al. Am J Hum Genet. 2004 Dec;75(6):1136-42. doi: 10.1086/426318. Epub 2004 Oct 14. Am J Hum Genet. 2004. PMID: 15486829 Free PMC article.

9

Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency.

Oglesbee D, He M, Majumder N, Vockley J, Ahmad A, Angle B, Burton B, Charrow J, Ensenauer R, Ficicioglu CH, Keppen LD, Marsden D, Tortorelli S, Hahn SH, Matern D. Oglesbee D, et al. Genet Med. 2007 Feb;9(2):108-16. doi: 10.1097/gim.0b013e31802f78d6. Genet Med. 2007. PMID: 17304052

10

Trisomy 20 mosaicism caused by a maternal meiosis II error is associated with normal intellect but multiple congenital anomalies.

Ensenauer RE, Shaughnessy WJ, Jalal SM, Dawson DB, Courteau LK, Ellison JW. Ensenauer RE, et al. Am J Med Genet A. 2005 Apr 15;134A(2):202-6. doi: 10.1002/ajmg.a.30586. Am J Med Genet A. 2005. PMID: 15690403 Review.

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