Dawson DB - Search Results

1

Target-enrichment sequencing and copy number evaluation in inherited polyneuropathy.

Wang W, Wang C, Dawson DB, Thorland EC, Lundquist PA, Eckloff BW, Wu Y, Baheti S, Evans JM, Scherer SS, Dyck PJ, Klein CJ. Wang W, et al. Among authors: dawson db. Neurology. 2016 May 10;86(19):1762-71. doi: 10.1212/WNL.0000000000002659. Epub 2016 Apr 13. Neurology. 2016. PMID: 27164712 Free PMC article.

2

Does parent of origin matter? Methylation studies should be performed on patients with multiple copies of the Prader-Willi/Angelman syndrome critical region.

Aypar U, Brodersen PR, Lundquist PA, Dawson DB, Thorland EC, Hoppman N. Aypar U, et al. Among authors: dawson db. Am J Med Genet A. 2014 Oct;164A(10):2514-20. doi: 10.1002/ajmg.a.36663. Epub 2014 Jun 26. Am J Med Genet A. 2014. PMID: 24975781

3

C9orf72 Repeat Expansion Frequency among Patients with Huntington Disease Genetic Testing.

Ida CM, Butz ML, Lundquist PA, Dawson DB. Ida CM, et al. Among authors: dawson db. Neurodegener Dis. 2018;18(5-6):239-253. doi: 10.1159/000492499. Epub 2018 Oct 18. Neurodegener Dis. 2018. PMID: 30336474

4

Patients with mosaic methylation patterns of the Prader-Willi/Angelman Syndrome critical region exhibit AS-like phenotypes with some PWS features.

Aypar U, Hoppman NL, Thorland EC, Dawson DB. Aypar U, et al. Among authors: dawson db. Mol Cytogenet. 2016 Mar 22;9:26. doi: 10.1186/s13039-016-0233-0. eCollection 2016. Mol Cytogenet. 2016. PMID: 27006693 Free PMC article.

5

Development and clinical implementation of a combination deletion PCR and multiplex ligation-dependent probe amplification assay for detecting deletions involving the human α-globin gene cluster.

Kipp BR, Roellinger SE, Lundquist PA, Highsmith WE, Dawson DB. Kipp BR, et al. Among authors: dawson db. J Mol Diagn. 2011 Sep;13(5):549-57. doi: 10.1016/j.jmoldx.2011.04.001. Epub 2011 Jun 25. J Mol Diagn. 2011. PMID: 21708285 Free PMC article.

6

Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosis.

Monico CG, Rossetti S, Schwanz HA, Olson JB, Lundquist PA, Dawson DB, Harris PC, Milliner DS. Monico CG, et al. Among authors: dawson db. J Am Soc Nephrol. 2007 Jun;18(6):1905-14. doi: 10.1681/ASN.2006111230. Epub 2007 Apr 25. J Am Soc Nephrol. 2007. PMID: 17460142

7

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. Among authors: dawson db. 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.

8

Clinical diagnostic testing for the cytogenetic and molecular causes of male infertility: the Mayo Clinic experience.

Hofherr SE, Wiktor AE, Kipp BR, Dawson DB, Van Dyke DL. Hofherr SE, et al. Among authors: dawson db. J Assist Reprod Genet. 2011 Nov;28(11):1091-8. doi: 10.1007/s10815-011-9633-6. Epub 2011 Sep 13. J Assist Reprod Genet. 2011. PMID: 21912980 Free PMC article.

9

Diagnosis of alpha-1-antitrypsin deficiency: An algorithm of quantification, genotyping, and phenotyping.

Snyder MR, Katzmann JA, Butz ML, Wiley C, Yang P, Dawson DB, Halling KC, Highsmith WE, Thibodeau SN. Snyder MR, et al. Among authors: dawson db. Clin Chem. 2006 Dec;52(12):2236-42. doi: 10.1373/clinchem.2006.072991. Epub 2006 Oct 19. Clin Chem. 2006. PMID: 17053153

10

Partial hexasomy for the Prader-Willi-Angelman syndrome critical region due to a maternally inherited large supernumerary marker chromosome.

Hoppman-Chaney NL, Dawson DB, Nguyen L, Sengupta S, Reynolds K, McPherson E, Velagaleti G. Hoppman-Chaney NL, et al. Among authors: dawson db. Am J Med Genet A. 2010 Aug;152A(8):2034-8. doi: 10.1002/ajmg.a.33483. Am J Med Genet A. 2010. PMID: 20602489

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