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Items: 1 to 50 of 78

1.

Phenylalanine hydroxylase genotype-phenotype associations in the United States: A single center study.

Rajabi F, Rohr F, Wessel A, Martell L, Dobrowolski SF, Guldberg P, Güttler F, Levy HL.

Mol Genet Metab. 2019 Sep 14. pii: S1096-7192(19)30602-X. doi: 10.1016/j.ymgme.2019.09.004. [Epub ahead of print]

PMID:
31623983
2.

The high-density lipoprotein receptor Scarb1 is required for normal bone differentiation in vivo and in vitro.

Tourkova IL, Dobrowolski SF, Secunda C, Zaidi M, Papadimitriou-Olivgeri I, Papachristiou DJ, Blair HC.

Lab Invest. 2019 Aug 29. doi: 10.1038/s41374-019-0311-0. [Epub ahead of print]

PMID:
31467425
3.

Urinary incontinence among competitive rope-skipping athletes: a cross-sectional study.

Dobrowolski SL, Pudwell J, Harvey MA.

Int Urogynecol J. 2019 Aug 3. doi: 10.1007/s00192-019-04048-y. [Epub ahead of print]

PMID:
31377839
4.

Complex patterns of inheritance, including synergistic heterozygosity, in inborn errors of metabolism: Implications for precision medicine driven diagnosis and treatment.

Vockley J, Dobrowolski SF, Arnold GL, Guerrero RB, Derks TGJ, Weinstein DA.

Mol Genet Metab. 2019 Jul 19. pii: S1096-7192(19)30408-1. doi: 10.1016/j.ymgme.2019.07.011. [Epub ahead of print]

PMID:
31358473
5.

Adaptive Strategies of the Candidate Probiotic E. coli Nissle in the Mammalian Gut.

Crook N, Ferreiro A, Gasparrini AJ, Pesesky MW, Gibson MK, Wang B, Sun X, Condiotte Z, Dobrowolski S, Peterson D, Dantas G.

Cell Host Microbe. 2019 Apr 10;25(4):499-512.e8. doi: 10.1016/j.chom.2019.02.005. Epub 2019 Mar 26.

PMID:
30926240
6.

Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene.

Zastrow DB, Baudet H, Shen W, Thomas A, Si Y, Weaver MA, Lager AM, Liu J, Mangels R, Dwight SS, Wright MW, Dobrowolski SF, Eilbeck K, Enns GM, Feigenbaum A, Lichter-Konecki U, Lyon E, Pasquali M, Watson M, Blau N, Steiner RD, Craigen WJ, Mao R; ClinGen Inborn Errors of Metabolism Working Group.

Hum Mutat. 2018 Nov;39(11):1569-1580. doi: 10.1002/humu.23649.

PMID:
30311390
7.

A bone mineralization defect in the Pahenu2 model of classical phenylketonuria involves compromised mesenchymal stem cell differentiation.

Dobrowolski SF, Tourkova IL, Robinson LJ, Secunda C, Spridik K, Blair HC.

Mol Genet Metab. 2018 Nov;125(3):193-199. doi: 10.1016/j.ymgme.2018.08.010. Epub 2018 Aug 27.

PMID:
30201326
8.

Medium chain acyl-CoA dehydrogenase deficiency in a premature infant.

Dobrowolski SF, Ghaloul-Gonzalez L, Vockley J.

Pediatr Rep. 2017 Nov 21;9(4):7045. doi: 10.4081/pr.2017.7045. eCollection 2017 Nov 21.

9.

Host conditioning and rejection monitoring in hepatocyte transplantation in humans.

Soltys KA, Setoyama K, Tafaleng EN, Soto Gutiérrez A, Fong J, Fukumitsu K, Nishikawa T, Nagaya M, Sada R, Haberman K, Gramignoli R, Dorko K, Tahan V, Dreyzin A, Baskin K, Crowley JJ, Quader MA, Deutsch M, Ashokkumar C, Shneider BL, Squires RH, Ranganathan S, Reyes-Mugica M, Dobrowolski SF, Mazariegos G, Elango R, Stolz DB, Strom SC, Vockley G, Roy-Chowdhury J, Cascalho M, Guha C, Sindhi R, Platt JL, Fox IJ.

J Hepatol. 2017 May;66(5):987-1000. doi: 10.1016/j.jhep.2016.12.017. Epub 2016 Dec 24.

10.

Neurometabolic Disorders: Potentially Treatable Abnormalities in Patients With Treatment-Refractory Depression and Suicidal Behavior.

Pan LA, Martin P, Zimmer T, Segreti AM, Kassiff S, McKain BW, Baca CA, Rengasamy M, Hyland K, Walano N, Steinfeld R, Hughes M, Dobrowolski SK, Pasquino M, Diler R, Perel J, Finegold DN, Peters DG, Naviaux RK, Brent DA, Vockley J.

Am J Psychiatry. 2017 Jan 1;174(1):42-50. doi: 10.1176/appi.ajp.2016.15111500. Epub 2016 Aug 13.

PMID:
27523499
11.

Meningioma arising in the hypoglossal canal: the midline suboccipital subtonsillar approach.

Dobrowolski S, Lepski G, Tatagiba M.

J Surg Case Rep. 2016 Jul 22;2016(7). pii: rjw039. doi: 10.1093/jscr/rjw039.

12.

Mitochondrial respiratory chain disorders in the Old Order Amish population.

Ghaloul-Gonzalez L, Goldstein A, Walsh Vockley C, Dobrowolski SF, Biery A, Irani A, Ibarra J, Morton DH, Mohsen AW, Vockley J.

Mol Genet Metab. 2016 Aug;118(4):296-303. doi: 10.1016/j.ymgme.2016.06.005. Epub 2016 Jun 16.

PMID:
27344355
13.

The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in Cancer.

Hartung AM, Swensen J, Uriz IE, Lapin M, Kristjansdottir K, Petersen US, Bang JM, Guerra B, Andersen HS, Dobrowolski SF, Carey JC, Yu P, Vaughn C, Calhoun A, Larsen MR, Dyrskjøt L, Stevenson DA, Andresen BS.

PLoS Genet. 2016 May 19;12(5):e1006039. doi: 10.1371/journal.pgen.1006039. eCollection 2016 May.

14.

Foramen magnum meningioma: The midline suboccipital subtonsillar approach.

Dobrowolski S, Ebner F, Lepski G, Tatagiba M.

Clin Neurol Neurosurg. 2016 Jun;145:28-34. doi: 10.1016/j.clineuro.2016.02.027. Epub 2016 Apr 2.

PMID:
27064859
15.

Modeling correlates of low bone mineral density in patients with phenylalanine hydroxylase deficiency.

Coakley KE, Douglas TD, Goodman M, Ramakrishnan U, Dobrowolski SF, Singh RH.

J Inherit Metab Dis. 2016 May;39(3):363-372. doi: 10.1007/s10545-015-9910-0. Epub 2016 Feb 16.

PMID:
26883219
16.

DNA methylation in the pathophysiology of hyperphenylalaninemia in the PAH(enu2) mouse model of phenylketonuria.

Dobrowolski SF, Lyons-Weiler J, Spridik K, Vockley J, Skvorak K, Biery A.

Mol Genet Metab. 2016 Sep;119(1-2):1-7. doi: 10.1016/j.ymgme.2016.01.001. Epub 2016 Jan 14.

PMID:
26822703
17.

Altered DNA methylation in PAH deficient phenylketonuria.

Dobrowolski SF, Lyons-Weiler J, Spridik K, Biery A, Breck J, Vockley J, Yatsenko S, Sultana T.

Mol Genet Metab. 2015 Jun-Jul;115(2-3):72-7. doi: 10.1016/j.ymgme.2015.04.002. Epub 2015 Apr 24.

PMID:
25990862
18.

Newborn blood spot 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. 2015 Feb;61(2):412-9. doi: 10.1373/clinchem.2014.231019. Epub 2014 Dec 11.

19.

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
20.

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
21.

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
22.

Magnetic instrumentation and other applications of magnets in NOTES.

Kobiela J, Grymek S, Wojanowska M, Lubniewski M, Makarewicz W, Dobrowolski S, Lachiński AJ, Sledziński Z.

Wideochir Inne Tech Maloinwazyjne. 2012 Jun;7(2):67-73. doi: 10.5114/wiitm.2011.25665. Epub 2011 Nov 10.

23.

Transvaginal NOTES cholecystectomy in my partner? No way!

Kobiela J, Stefaniak T, Dobrowolski S, Makarewicz W, Lachiński AJ, Sledziński Z.

Wideochir Inne Tech Maloinwazyjne. 2011 Dec;6(4):236-41. doi: 10.5114/wiitm.2011.26258. Epub 2011 Dec 20.

24.

PTSD in asylum-seeking male adolescents from Afghanistan.

Bronstein I, Montgomery P, Dobrowolski S.

J Trauma Stress. 2012 Oct;25(5):551-7. doi: 10.1002/jts.21740. Epub 2012 Oct 15.

PMID:
23070950
25.

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.

26.

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
27.

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.

28.

Validation of an unlabeled probe melting analysis assay combined with high-throughput extractions for genotyping of the most common variants in HFE-associated hereditary hemochromatosis, C282Y, H63D, and S65C.

Sumner K, Hubley L, Pont-Kingdon G, Mitchell S, Wayman T, Wilson A, Meadows C, Elenitoba-Johnson K, Pattison D, Dobrowolski S, Best H, Lyon E.

Genet Test Mol Biomarkers. 2012 Jul;16(7):656-60. doi: 10.1089/gtmb.2011.0204. Epub 2012 Feb 24.

PMID:
22364140
29.

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.

30.

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
31.

Surgical morphology of the pancreatic isthmus.

Hac SA, Dobosz M, Nalecz A, Reszetow J, Dobrowolski S, Friess H, Michaljevic AL, Mroczkowski P, Studniarek M, Sledzinski Z.

Pancreatology. 2010;10(2-3):179-85. doi: 10.1159/000231983. Epub 2010 May 17.

PMID:
20484956
32.

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
33.

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
34.

Fragile histidine triad (FHIT) gene is overexpressed in colorectal cancer.

Wierzbicki PM, Adrych K, Kartanowicz D, Dobrowolski S, Stanislawowski M, Chybicki J, Godlewski J, Korybalski B, Smoczynski M, Kmiec Z.

J Physiol Pharmacol. 2009 Oct;60 Suppl 4:63-70.

PMID:
20083853
35.

An unusual presentation of pancreatic pseudocyst mimicking cystic neoplasm of the pancreas: a case report.

Gintowt A, Hac S, Dobrowolski S, Sledziński Z.

Cases J. 2009 Dec 3;2:9138. doi: 10.1186/1757-1626-2-9138.

36.

Should we preserve the inferior mesenteric artery during sigmoid colectomy?

Dobrowolski S, Hać S, Kobiela J, Sledziński Z.

Neurogastroenterol Motil. 2009 Dec;21(12):1288-e123. doi: 10.1111/j.1365-2982.2009.01331.x. Epub 2009 Jun 5.

PMID:
19508489
37.

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
38.

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
39.

Planning the human variome project: the Spain report.

Kaput J, Cotton RG, Hardman L, Watson M, Al Aqeel AI, Al-Aama JY, Al-Mulla F, Alonso S, Aretz S, Auerbach AD, Bapat B, Bernstein IT, Bhak J, Bleoo SL, Blöcker H, Brenner SE, Burn J, Bustamante M, Calzone R, Cambon-Thomsen A, Cargill M, Carrera P, Cavedon L, Cho YS, Chung YJ, Claustres M, Cutting G, Dalgleish R, den Dunnen JT, Díaz C, Dobrowolski S, dos Santos MR, Ekong R, Flanagan SB, Flicek P, Furukawa Y, Genuardi M, Ghang H, Golubenko MV, Greenblatt MS, Hamosh A, Hancock JM, Hardison R, Harrison TM, Hoffmann R, Horaitis R, Howard HJ, Barash CI, Izagirre N, Jung J, Kojima T, Laradi S, Lee YS, Lee JY, Gil-da-Silva-Lopes VL, Macrae FA, Maglott D, Marafie MJ, Marsh SG, Matsubara Y, Messiaen LM, Möslein G, Netea MG, Norton ML, Oefner PJ, Oetting WS, O'Leary JC, de Ramirez AM, Paalman MH, Parboosingh J, Patrinos GP, Perozzi G, Phillips IR, Povey S, Prasad S, Qi M, Quin DJ, Ramesar RS, Richards CS, Savige J, Scheible DG, Scott RJ, Seminara D, Shephard EA, Sijmons RH, Smith TD, Sobrido MJ, Tanaka T, Tavtigian SV, Taylor GR, Teague J, Töpel T, Ullman-Cullere M, Utsunomiya J, van Kranen HJ, Vihinen M, Webb E, Weber TK, Yeager M, Yeom YI, Yim SH, Yoo HS; Contributors to the Human Variome Project Planning Meeting.

Hum Mutat. 2009 Apr;30(4):496-510. doi: 10.1002/humu.20972.

40.

Pancreatic duct diversity.

Hac S, Nalecz A, Dobosz M, Reszetow J, Dobrowolski S, Friess H, Mihaljevic AL, Studniarek M, Jaskiewicz K, Sledzinski Z.

Pancreas. 2009 Apr;38(3):318-21. doi: 10.1097/MPA.0b013e31819081ba.

PMID:
19066495
41.

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
42.

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
43.

Pyrroles as antioxidants: solvent effects and the nature of the attacking radical on antioxidant activities and mechanisms of pyrroles, dipyrrinones, and bile pigments.

MacLean PD, Chapman EE, Dobrowolski SL, Thompson A, Barclay LR.

J Org Chem. 2008 Sep 5;73(17):6623-35. doi: 10.1021/jo8005073. Epub 2008 Jul 29.

PMID:
18662034
44.

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.

45.

Changes in glucose metabolism after Kausch-Whipple pancreatectomy in pancreatic cancer and chronic pancreatitis patients.

Litwin J, Dobrowolski S, Orłowska-Kunikowska E, Sledziński Z.

Pancreas. 2008 Jan;36(1):26-30. doi: 10.1097/mpa.0b013e318137aa61.

PMID:
18192877
46.

Biliary versus alcohol-related infected pancreatic necrosis: similarities and differences in the follow-up.

Reszetow J, Hać S, Dobrowolski S, Stefaniak T, Wajda Z, Gruca Z, Sledziński Z, Studniarek M.

Pancreas. 2007 Oct;35(3):267-72.

PMID:
17895849
47.

Prospective evaluation of the defecatory functional results in patients following aorto-aortic reconstruction surgery for an abdominal aortic aneurysm.

Dobrowolski S, Wojciechowski J, Dobosz M, Hać S, Sledziński Z.

Surg Today. 2007;37(10):831-6. Epub 2007 Sep 26.

PMID:
17879031
48.

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
49.

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
50.

[Evaluation of aroeira (Schinus terebinthifolius Raddi) extract on the healing process of gastroraphy in rats].

Santos OJ, Ribas Filho JM, Czeczko NG, Castelo Branco Neto ML, Naufel C Jr, Ferreira LM, Campos RP, Moreira H, Porcides RD, Dobrowolski S.

Acta Cir Bras. 2006;21 Suppl 2:39-45. Portuguese.

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