Lundquist P - Search Results

1

A novel deletion of SNURF/SNRPN exon 1 in a patient with Prader-Willi-like phenotype.

Cao Y, AlHumaidi SS, Faqeih EA, Pitel BA, Lundquist P, Aypar U. Cao Y, et al. Among authors: lundquist p. Eur J Med Genet. 2017 Aug;60(8):416-420. doi: 10.1016/j.ejmg.2017.05.003. Epub 2017 May 26. Eur J Med Genet. 2017. PMID: 28554868

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. 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

Exclusion of a primary gene defect at the HLA locus in familial idiopathic dilated cardiomyopathy.

Olson TM, Thibodeau SN, Lundquist PA, Schaid DJ, Michels VV. Olson TM, et al. Among authors: lundquist pa. J Med Genet. 1995 Nov;32(11):876-80. doi: 10.1136/jmg.32.11.876. J Med Genet. 1995. PMID: 8592331 Free PMC article.

4

Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1.

Sun X, Marks DL, Park WD, Wheatley CL, Puri V, O'Brien JF, Kraft DL, Lundquist PA, Patterson MC, Pagano RE, Snow K. Sun X, et al. Among authors: lundquist pa. Am J Hum Genet. 2001 Jun;68(6):1361-72. doi: 10.1086/320599. Epub 2001 May 9. Am J Hum Genet. 2001. PMID: 11349231 Free PMC article.

5

Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1.

Park WD, O'Brien JF, Lundquist PA, Kraft DL, Vockley CW, Karnes PS, Patterson MC, Snow K. Park WD, et al. Hum Mutat. 2003 Oct;22(4):313-25. doi: 10.1002/humu.10255. Hum Mutat. 2003. PMID: 12955717

6

Development and validation of a comprehensive mutation and deletion detection assay for SDHB, SDHC, and SDHD.

Milosevic D, Lundquist P, Cradic K, Vidal-Folch N, Huynh T, Pacak K, Grebe SK. Milosevic D, et al. Among authors: lundquist p. Clin Biochem. 2010 May;43(7-8):700-4. doi: 10.1016/j.clinbiochem.2010.01.016. Epub 2010 Feb 12. Clin Biochem. 2010. PMID: 20153743 Free PMC article.

7

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. 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.

8

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

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

9

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. 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

10

Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome.

Consugar MB, Wong WC, Lundquist PA, Rossetti S, Kubly VJ, Walker DL, Rangel LJ, Aspinwall R, Niaudet WP, Ozen S, David A, Velinov M, Bergstralh EJ, Bae KT, Chapman AB, Guay-Woodford LM, Grantham JJ, Torres VE, Sampson JR, Dawson BD, Harris PC; CRISP Consortium. Consugar MB, et al. Kidney Int. 2008 Dec;74(11):1468-79. doi: 10.1038/ki.2008.485. Epub 2008 Sep 24. Kidney Int. 2008. PMID: 18818683 Free PMC article.

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