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Results: 1 to 20 of 30

1.

Newborn Bloodspot Screening Test Using Multiplexed Real-Time PCR to Simultaneously Screen for Spinal Muscular Atrophy and Severe Combined Immunodeficiency.

Taylor JL, Lee FK, Yazdanpanah GK, Staropoli JF, Liu M, Carulli JP, Sun C, Dobrowolski SF, Hannon WH, Vogt RF.

Clin Chem. 2014 Dec 11. pii: clinchem.2014.231019. [Epub ahead of print]

PMID:
25502182
[PubMed - as supplied by publisher]
2.

Methylome repatterning in a mouse model of Maternal PKU Syndrome.

Dobrowolski SF, Lyons-Weiler J, Biery A, Spridik K, Vockley G, Kranik E, Skvorak K, Sultana T.

Mol Genet Metab. 2014 Nov;113(3):194-9. doi: 10.1016/j.ymgme.2014.08.006. Epub 2014 Aug 23.

PMID:
25218179
[PubMed - in process]
3.

Phenylketonuria Scientific Review Conference: state of the science and future research needs.

Camp KM, Parisi MA, Acosta PB, Berry GT, Bilder DA, Blau N, Bodamer OA, Brosco JP, Brown CS, Burlina AB, Burton BK, Chang CS, Coates PM, Cunningham AC, Dobrowolski SF, Ferguson JH, Franklin TD, Frazier DM, Grange DK, Greene CL, Groft SC, Harding CO, Howell RR, Huntington KL, Hyatt-Knorr HD, Jevaji IP, Levy HL, Lichter-Konecki U, Lindegren ML, Lloyd-Puryear MA, Matalon K, MacDonald A, McPheeters ML, Mitchell JJ, Mofidi S, Moseley KD, Mueller CM, Mulberg AE, Nerurkar LS, Ogata BN, Pariser AR, Prasad S, Pridjian G, Rasmussen SA, Reddy UM, Rohr FJ, Singh RH, Sirrs SM, Stremer SE, Tagle DA, Thompson SM, Urv TK, Utz JR, van Spronsen F, Vockley J, Waisbren SE, Weglicki LS, White DA, Whitley CB, Wilfond BS, Yannicelli S, Young JM.

Mol Genet Metab. 2014 Jun;112(2):87-122. doi: 10.1016/j.ymgme.2014.02.013. Epub 2014 Mar 6.

PMID:
24667081
[PubMed - in process]
4.

Parental attitudes toward newborn screening for Duchenne/Becker muscular dystrophy and spinal muscular atrophy.

Wood MF, Hughes SC, Hache LP, Naylor EW, Abdel-Hamid HZ, Barmada MM, Dobrowolski SF, Stickler DE, Clemens PR.

Muscle Nerve. 2014 Jun;49(6):822-8. doi: 10.1002/mus.24100.

PMID:
24307279
[PubMed - indexed for MEDLINE]
5.

Utility of phenylalanine hydroxylase genotype for tetrahydrobiopterin responsiveness classification in patients with phenylketonuria.

Quirk ME, Dobrowolski SF, Nelson BE, Coffee B, Singh RH.

Mol Genet Metab. 2012 Sep;107(1-2):31-6. doi: 10.1016/j.ymgme.2012.07.008. Epub 2012 Jul 20.

PMID:
22841515
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Splicing of phenylalanine hydroxylase (PAH) exon 11 is vulnerable: molecular pathology of mutations in PAH exon 11.

Heintz C, Dobrowolski SF, Andersen HS, Demirkol M, Blau N, Andresen BS.

Mol Genet Metab. 2012 Aug;106(4):403-11. doi: 10.1016/j.ymgme.2012.05.013. Epub 2012 May 29.

PMID:
22698810
[PubMed - indexed for MEDLINE]
7.

Newborn screening for spinal muscular atrophy by calibrated short-amplicon melt profiling.

Dobrowolski SF, Pham HT, Downes FP, Prior TW, Naylor EW, Swoboda KJ.

Clin Chem. 2012 Jun;58(6):1033-9. doi: 10.1373/clinchem.2012.183038. Epub 2012 Apr 9.

PMID:
22490618
[PubMed - indexed for MEDLINE]
Free Article
8.

FilmArray, an automated nested multiplex PCR system for multi-pathogen detection: development and application to respiratory tract infection.

Poritz MA, Blaschke AJ, Byington CL, Meyers L, Nilsson K, Jones DE, Thatcher SA, Robbins T, Lingenfelter B, Amiott E, Herbener A, Daly J, Dobrowolski SF, Teng DH, Ririe KM.

PLoS One. 2011;6(10):e26047. doi: 10.1371/journal.pone.0026047. Epub 2011 Oct 19. Erratum in: PLoS One. 2011;6(11). doi: 10.1371/annotation/468cfdcd-184c-42f7-a1d0-3b72a2f6a558.

PMID:
22039434
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population.

Dobrowolski SF, Heintz C, Miller T, Ellingson C, Ellingson C, Ozer I, Gökçay G, Baykal T, Thöny B, Demirkol M, Blau N.

Mol Genet Metab. 2011 Feb;102(2):116-21. doi: 10.1016/j.ymgme.2010.11.158. Epub 2010 Nov 18.

PMID:
21147011
[PubMed - indexed for MEDLINE]
10.

High-resolution melting analysis, a simple and effective method for reliable mutation scanning and frequency studies in the ACADVL gene.

Olsen RK, Dobrowolski SF, Kjeldsen M, Hougaard D, Simonsen H, Gregersen N, Andresen BS.

J Inherit Metab Dis. 2010 Jun;33(3):247-60. doi: 10.1007/s10545-010-9101-y. Epub 2010 May 18.

PMID:
20480395
[PubMed - indexed for MEDLINE]
11.

The phenylalanine hydroxylase c.30C>G synonymous variation (p.G10G) creates a common exonic splicing silencer.

Dobrowolski SF, Andersen HS, Doktor TK, Andresen BS.

Mol Genet Metab. 2010 Aug;100(4):316-23. doi: 10.1016/j.ymgme.2010.04.002. Epub 2010 Apr 14.

PMID:
20457534
[PubMed - indexed for MEDLINE]
12.

A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin.

Dobrowolski SF, Borski K, Ellingson CC, Koch R, Levy HL, Naylor EW.

J Hum Genet. 2009 Jun;54(6):335-9. doi: 10.1038/jhg.2009.37. Epub 2009 May 15.

PMID:
19444284
[PubMed - indexed for MEDLINE]
13.

Identifying sequence variants in the human mitochondrial genome using high-resolution melt (HRM) profiling.

Dobrowolski SF, Hendrickx AT, van den Bosch BJ, Smeets HJ, Gray J, Miller T, Sears M.

Hum Mutat. 2009 Jun;30(6):891-8. doi: 10.1002/humu.21003. Erratum in: Hum Mutat. 2009 Dec;30(12):1713. Hendrickx, Alexandra T M [added]; van den Bosch, Bianca J C [added]; Smeets, Hubert J M [added].

PMID:
19370763
[PubMed - indexed for MEDLINE]
14.

Biochemical characterization of mutant phenylalanine hydroxylase enzymes and correlation with clinical presentation in hyperphenylalaninaemic patients.

Dobrowolski SF, Pey AL, Koch R, Levy H, Ellingson CC, Naylor EW, Martinez A.

J Inherit Metab Dis. 2009 Feb;32(1):10-21. doi: 10.1007/s10545-008-0942-6. Epub 2008 Oct 21.

PMID:
18937047
[PubMed - indexed for MEDLINE]
15.

Genetic variation in the urea cycle: a model resource for investigating key candidate genes for common diseases.

Mitchell S, Ellingson C, Coyne T, Hall L, Neill M, Christian N, Higham C, Dobrowolski SF, Tuchman M, Summar M; Urea Cycle Disorder Consortium.

Hum Mutat. 2009 Jan;30(1):56-60. doi: 10.1002/humu.20813.

PMID:
18666241
[PubMed - indexed for MEDLINE]
16.

Base-pair neutral homozygotes can be discriminated by calibrated high-resolution melting of small amplicons.

Gundry CN, Dobrowolski SF, Martin YR, Robbins TC, Nay LM, Boyd N, Coyne T, Wall MD, Wittwer CT, Teng DH.

Nucleic Acids Res. 2008 Jun;36(10):3401-8. doi: 10.1093/nar/gkn204. Epub 2008 Apr 29.

PMID:
18448472
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Streamlined assessment of gene variants by high resolution melt profiling utilizing the ornithine transcarbamylase gene as a model system.

Dobrowolski SF, Ellingson CE, Caldovic L, Tuchman M.

Hum Mutat. 2007 Nov;28(11):1133-40.

PMID:
17565723
[PubMed - indexed for MEDLINE]
18.

Mutations in the phenylalanine hydroxylase gene identified in 95 patients with phenylketonuria using novel systems of mutation scanning and specific genotyping based upon thermal melt profiles.

Dobrowolski SF, Ellingson C, Coyne T, Grey J, Martin R, Naylor EW, Koch R, Levy HL.

Mol Genet Metab. 2007 Jul;91(3):218-27. Epub 2007 May 14.

PMID:
17502162
[PubMed - indexed for MEDLINE]
19.

Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene.

Dobrowolski SF, McKinney JT, Amat di San Filippo C, Giak Sim K, Wilcken B, Longo N.

Hum Mutat. 2005 Mar;25(3):306-13.

PMID:
15714519
[PubMed - indexed for MEDLINE]
20.

Rapid, comprehensive screening of the human medium chain acyl-CoA dehydrogenase gene.

McKinney JT, Longo N, Hahn SH, Matern D, Rinaldo P, Strauss AW, Dobrowolski SF.

Mol Genet Metab. 2004 Jun;82(2):112-20.

PMID:
15171998
[PubMed - indexed for MEDLINE]
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