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Items: 1 to 50 of 96

1.

An International Summit in Human Genetics and Genomics: Empowering clinical practice and research in developing countries.

Kaur M, Hadley DW, Muenke M, Hart PS.

Mol Genet Genomic Med. 2019 Jan;7(1):e00599. doi: 10.1002/mgg3.599.

2.

In consensus we trust? Persuasive effects of scientific consensus communication.

Chinn S, Lane DS, Hart PS.

Public Underst Sci. 2018 Oct;27(7):807-823. doi: 10.1177/0963662518791094. Epub 2018 Jul 30. Erratum in: Public Underst Sci. 2019 Jul;28(5):630.

PMID:
30058947
3.

The elusive power of the individual victim: Failure to find a difference in the effectiveness of charitable appeals focused on one compared to many victims.

Hart PS, Lane D, Chinn S.

PLoS One. 2018 Jul 18;13(7):e0199535. doi: 10.1371/journal.pone.0199535. eCollection 2018.

4.

Is There Any Hope? How Climate Change News Imagery and Text Influence Audience Emotions and Support for Climate Mitigation Policies.

Feldman L, Hart PS.

Risk Anal. 2018 Mar;38(3):585-602. doi: 10.1111/risa.12868. Epub 2017 Aug 2.

5.

Medical genetics and genomic medicine in the United States of America. Part 1: history, demographics, legislation, and burden of disease.

Ferreira CR, Regier DS, Hadley DW, Hart PS, Muenke M.

Mol Genet Genomic Med. 2017 Jul 16;5(4):307-316. doi: 10.1002/mgg3.318. eCollection 2017 Jul.

6.

The Influence of Climate Change Efficacy Messages and Efficacy Beliefs on Intended Political Participation.

Hart PS, Feldman L.

PLoS One. 2016 Aug 3;11(8):e0157658. doi: 10.1371/journal.pone.0157658. eCollection 2016.

7.

Autosomal Dominant Tubulointerstitial Kidney Disease, UMOD-Related.

Bleyer AJ, Hart PS, Kmoch S.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2007 Jan 12 [updated 2016 Jun 30].

8.

Invited commentary: The need for human genetics and genomics in dental school curricula.

Hart PS, Hart TC.

Mol Genet Genomic Med. 2016 Mar 17;4(2):123-5. doi: 10.1002/mgg3.216. eCollection 2016 Mar. No abstract available.

9.

Foreword to volume 3, issue 6.

Hart PS, Muenke M.

Mol Genet Genomic Med. 2015 Nov 11;3(6):481-2. doi: 10.1002/mgg3.185. eCollection 2015 Nov.

10.

Authors' response.

Kadioglu O, Hart PS, McIntyre BP, Currier GF, Sullivan SM, Li J, Shay C.

Am J Orthod Dentofacial Orthop. 2015 Oct;148(4):528-9. doi: 10.1016/j.ajodo.2015.07.018. No abstract available.

PMID:
26432303
11.

Polarizing news? Representations of threat and efficacy in leading US newspapers' coverage of climate change.

Feldman L, Hart PS, Milosevic T.

Public Underst Sci. 2017 May;26(4):481-497. doi: 10.1177/0963662515595348. Epub 2015 Jul 30.

PMID:
26229010
12.

Postsurgical volumetric airway changes in 2-jaw orthognathic surgery patients.

Hart PS, McIntyre BP, Kadioglu O, Currier GF, Sullivan SM, Li J, Shay C.

Am J Orthod Dentofacial Orthop. 2015 May;147(5):536-46. doi: 10.1016/j.ajodo.2014.12.023.

PMID:
25919099
13.

Craniodentofacial Manifestations in a Rare Syndrome: Orofaciodigital Type IV (Mohr-Majewski Syndrome).

Ozdemir-Karatas M, Ozdemir-Ozenen D, Hart PS, Hart TC.

Case Rep Dent. 2014;2014:605892. doi: 10.1155/2014/605892. Epub 2014 Dec 21.

14.

Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1.

Bleyer AJ, Kmoch S, Antignac C, Robins V, Kidd K, Kelsoe JR, Hladik G, Klemmer P, Knohl SJ, Scheinman SJ, Vo N, Santi A, Harris A, Canaday O, Weller N, Hulick PJ, Vogel K, Rahbari-Oskoui FF, Tuazon J, Deltas C, Somers D, Megarbane A, Kimmel PL, Sperati CJ, Orr-Urtreger A, Ben-Shachar S, Waugh DA, McGinn S, Bleyer AJ Jr, Hodanová K, Vylet'al P, Živná M, Hart TC, Hart PS.

Clin J Am Soc Nephrol. 2014 Mar;9(3):527-35. doi: 10.2215/CJN.06380613. Epub 2014 Feb 7.

15.

Numbers matter to informed patient choices: a randomized design across age and numeracy levels.

Peters E, Hart PS, Tusler M, Fraenkel L.

Med Decis Making. 2014 May;34(4):430-42. doi: 10.1177/0272989X13511705. Epub 2013 Nov 18.

16.

The role of numeracy in moderating the influence of statistics in climate change messages.

Hart PS.

Public Underst Sci. 2013 Oct;22(7):785-98. doi: 10.1177/0963662513482268. Epub 2013 Apr 24.

PMID:
23825290
17.

Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.

Jaureguiberry G, De la Dure-Molla M, Parry D, Quentric M, Himmerkus N, Koike T, Poulter J, Klootwijk E, Robinette SL, Howie AJ, Patel V, Figueres ML, Stanescu HC, Issler N, Nicholson JK, Bockenhauer D, Laing C, Walsh SB, McCredie DA, Povey S, Asselin A, Picard A, Coulomb A, Medlar AJ, Bailleul-Forestier I, Verloes A, Le Caignec C, Roussey G, Guiol J, Isidor B, Logan C, Shore R, Johnson C, Inglehearn C, Al-Bahlani S, Schmittbuhl M, Clauss F, Huckert M, Laugel V, Ginglinger E, Pajarola S, Spartà G, Bartholdi D, Rauch A, Addor MC, Yamaguti PM, Safatle HP, Acevedo AC, Martelli-Júnior H, dos Santos Netos PE, Coletta RD, Gruessel S, Sandmann C, Ruehmann D, Langman CB, Scheinman SJ, Ozdemir-Ozenen D, Hart TC, Hart PS, Neugebauer U, Schlatter E, Houillier P, Gahl WA, Vikkula M, Bloch-Zupan A, Bleich M, Kitagawa H, Unwin RJ, Mighell A, Berdal A, Kleta R.

Nephron Physiol. 2012;122(1-2):1-6. doi: 10.1159/000349989. Epub 2013 Feb 23.

18.

Noncompaction of the ventricular myocardium and hydrops fetalis in cobalamin C disease.

Tanpaiboon P, Sloan JL, Callahan PF, McAreavey D, Hart PS, Lichter-Konecki U, Zand D, Venditti CP.

JIMD Rep. 2013;10:33-8. doi: 10.1007/8904_2012_197. Epub 2012 Dec 29.

19.

Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.

Kirby A, Gnirke A, Jaffe DB, Barešová V, Pochet N, Blumenstiel B, Ye C, Aird D, Stevens C, Robinson JT, Cabili MN, Gat-Viks I, Kelliher E, Daza R, DeFelice M, Hůlková H, Sovová J, Vylet'al P, Antignac C, Guttman M, Handsaker RE, Perrin D, Steelman S, Sigurdsson S, Scheinman SJ, Sougnez C, Cibulskis K, Parkin M, Green T, Rossin E, Zody MC, Xavier RJ, Pollak MR, Alper SL, Lindblad-Toh K, Gabriel S, Hart PS, Regev A, Nusbaum C, Kmoch S, Bleyer AJ, Lander ES, Daly MJ.

Nat Genet. 2013 Mar;45(3):299-303. doi: 10.1038/ng.2543. Epub 2013 Feb 10.

20.

The unintended consequences of disclosure: effect of manipulating sponsor identification on the perceived credibility and effectiveness of smoking cessation advertisements.

Byrne S, Guillory JE, Mathios AD, Avery RJ, Hart PS.

J Health Commun. 2012;17(10):1119-37. doi: 10.1080/10810730.2012.665425. Epub 2012 Oct 11.

PMID:
23057726
21.

Penetrance of PD in Glucocerebrosidase Gene Mutation Carriers.

Sidransky E, Hart PS.

Neurology. 2012 Jul 3;79(1):106-7. doi: 10.1212/01.wnl.0000416261.29035.4c. No abstract available.

PMID:
22753448
22.

Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system.

Denadai R, Raposo-Amaral CE, Bertola D, Kim C, Alonso N, Hart T, Han S, Stelini RF, Buzzo CL, Raposo-Amaral CA, Hart PS.

Am J Med Genet A. 2012 Apr;158A(4):732-42. doi: 10.1002/ajmg.a.35228. Epub 2012 Mar 1.

23.

Amelogenesis imperfecta: genotype-phenotype studies in 71 families.

Wright JT, Torain M, Long K, Seow K, Crawford P, Aldred MJ, Hart PS, Hart TC.

Cells Tissues Organs. 2011;194(2-4):279-83. doi: 10.1159/000324339. Epub 2011 May 19.

24.

Informing patients: the influence of numeracy, framing, and format of side effect information on risk perceptions.

Peters E, Hart PS, Fraenkel L.

Med Decis Making. 2011 May-Jun;31(3):432-6. doi: 10.1177/0272989X10391672. Epub 2010 Dec 29.

PMID:
21191122
25.

Clinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisone.

Bleyer AJ, Zivná M, Hulková H, Hodanová K, Vyletal P, Sikora J, Zivný J, Sovová J, Hart TC, Adams JN, Elleder M, Kapp K, Haws R, Cornell LD, Kmoch S, Hart PS.

Clin Nephrol. 2010 Dec;74(6):411-22.

26.

Hereditary interstitial kidney disease.

Bleyer AJ, Hart PS, Kmoch S.

Semin Nephrol. 2010 Jul;30(4):366-73. doi: 10.1016/j.semnephrol.2010.06.003. Review.

27.

Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p.

Gunay-Aygun M, Zivony-Elboum Y, Gumruk F, Geiger D, Cetin M, Khayat M, Kleta R, Kfir N, Anikster Y, Chezar J, Arcos-Burgos M, Shalata A, Stanescu H, Manaster J, Arat M, Edwards H, Freiberg AS, Hart PS, Riney LC, Patzel K, Tanpaiboon P, Markello T, Huizing M, Maric I, Horne M, Kehrel BE, Jurk K, Hansen NF, Cherukuri PF, Jones M, Cruz P, Mullikin JC, Nurden A, White JG, Gahl WA, Falik-Zaccai T.

Blood. 2010 Dec 2;116(23):4990-5001. doi: 10.1182/blood-2010-05-286534. Epub 2010 Aug 13.

28.

Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1.

Manoli I, Golas G, Westbroek W, Vilboux T, Markello TC, Introne W, Maynard D, Pederson B, Tsilou E, Jordan MB, Hart PS, White JG, Gahl WA, Huizing M.

Am J Med Genet A. 2010 Jun;152A(6):1474-83. doi: 10.1002/ajmg.a.33389.

29.

More on clinical renal genetics.

Grünfeld JP, Hwu W, Chien Y, Lee N, Chiang S, Dobrovolny R, Huang A, Yeh H, Chao M, Lin S, Kitagawa T, Desnick R, Hsu L, Van Keimpema L, Nevens F, Vanslembrouck R, Van Oijen G, Hoffmann A, Dekker H, De Man R, Drenth J, Alamovitch S, Plaisier E, Favrole P, Prost C, Chen Z, Van Agrmael T, Marro B, Ronco P, Zivna M, Hulkova H, Matignon M, Hodanova K, Vylet'al P, Kalbacova M, Baresova V, Sikora J, Blazkova H, Zivny J, Ivanek R, Stranecky V, Sovova J, Claes K, Lerut E, Fryns J, Hart P, Hart T, Adams J, Pawtowski A, Clemessy M, Gasc J, Gubler M, Antignac C, Elleder M, Kapp K, Grimbert P, Bleyer A, Kmoch S, Brown E, Schlöndorff J, Becker Dj, Tsukaguchi H, Uschinski A, Higgs H, Henderson J, Pollak M.

Clin J Am Soc Nephrol. 2010 Apr;5(4):563-7. doi: 10.2215/CJN.01720210. Epub 2010 Mar 25. No abstract available.

30.

Childhood course of renal insufficiency in a family with a uromodulin gene mutation.

Schäffer P, Gombos E, Meichelbeck K, Kiss A, Hart PS, Bleyer AJ.

Pediatr Nephrol. 2010 Jul;25(7):1355-60. doi: 10.1007/s00467-009-1436-y. Epub 2010 Feb 12.

31.

Oral rehabilitation of a patient with amelogenesis imperfecta.

Cogulu D, Becerik S, Emingil G, Hart PS, Hart TC.

Pediatr Dent. 2009 Nov-Dec;31(7):523-7.

32.

Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure.

Zivná M, Hůlková H, Matignon M, Hodanová K, Vylet'al P, Kalbácová M, Baresová V, Sikora J, Blazková H, Zivný J, Ivánek R, Stránecký V, Sovová J, Claes K, Lerut E, Fryns JP, Hart PS, Hart TC, Adams JN, Pawtowski A, Clemessy M, Gasc JM, Gübler MC, Antignac C, Elleder M, Kapp K, Grimbert P, Bleyer AJ, Kmoch S.

Am J Hum Genet. 2009 Aug;85(2):204-13. doi: 10.1016/j.ajhg.2009.07.010. Epub 2009 Aug 6.

33.

Genetic studies of craniofacial anomalies: clinical implications and applications.

Hart TC, Hart PS.

Orthod Craniofac Res. 2009 Aug;12(3):212-20. doi: 10.1111/j.1601-6343.2009.01455.x. Review.

34.

Exclusion of candidate genes in seven Turkish families with autosomal recessive amelogenesis imperfecta.

Becerik S, Cogulu D, Emingil G, Han T, Hart PS, Hart TC.

Am J Med Genet A. 2009 Jul;149A(7):1392-8. doi: 10.1002/ajmg.a.32885.

35.

Phenotypic variation in FAM83H-associated amelogenesis imperfecta.

Wright JT, Frazier-Bowers S, Simmons D, Alexander K, Crawford P, Han ST, Hart PS, Hart TC.

J Dent Res. 2009 Apr;88(4):356-60. doi: 10.1177/0022034509333822.

36.

Novel FAM83H mutations in Turkish families with autosomal dominant hypocalcified amelogenesis imperfecta.

Hart PS, Becerik S, Cogulu D, Emingil G, Ozdemir-Ozenen D, Han ST, Sulima PP, Firatli E, Hart TC.

Clin Genet. 2009 Apr;75(4):401-4. doi: 10.1111/j.1399-0004.2008.01112.x. Epub 2009 Feb 11. No abstract available.

37.

The PDGF-C regulatory region SNP rs28999109 decreases promoter transcriptional activity and is associated with CL/P.

Choi SJ, Marazita ML, Hart PS, Sulima PP, Field LL, McHenry TG, Govil M, Cooper ME, Letra A, Menezes R, Narayanan S, Mansilla MA, Granjeiro JM, Vieira AR, Lidral AC, Murray JC, Hart TC.

Eur J Hum Genet. 2009 Jun;17(6):774-84. doi: 10.1038/ejhg.2008.245. Epub 2008 Dec 17.

38.

Overlapping DSPP mutations cause dentin dysplasia and dentinogenesis imperfecta.

McKnight DA, Simmer JP, Hart PS, Hart TC, Fisher LW.

J Dent Res. 2008 Dec;87(12):1108-11. Erratum in: J Dent Res. 2009 Jan;88(1):95.

39.

In vivo impact of a 4 bp deletion mutation in the DLX3 gene on bone development.

Choi SJ, Roodman GD, Feng JQ, Song IS, Amin K, Hart PS, Wright JT, Haruyama N, Hart TC.

Dev Biol. 2009 Jan 1;325(1):129-37. doi: 10.1016/j.ydbio.2008.10.014. Epub 2008 Oct 25.

40.

Human and mouse enamel phenotypes resulting from mutation or altered expression of AMEL, ENAM, MMP20 and KLK4.

Wright JT, Hart TC, Hart PS, Simmons D, Suggs C, Daley B, Simmer J, Hu J, Bartlett JD, Li Y, Yuan ZA, Seow WK, Gibson CW.

Cells Tissues Organs. 2009;189(1-4):224-9. doi: 10.1159/000151378. Epub 2008 Aug 19.

41.

Uniparental disomy of chromosome 1 causing concurrent Charcot-Marie-Tooth and Gaucher disease Type 3.

Benko WS, Hruska KS, Nagan N, Goker-Alpan O, Hart PS, Schiffmann R, Sidransky E.

Neurology. 2008 Mar 18;70(12):976-8. doi: 10.1212/01.wnl.0000305963.37449.32. No abstract available.

42.

A 4 bp deletion mutation in DLX3 enhances osteoblastic differentiation and bone formation in vitro.

Choi SJ, Song IS, Ryu OH, Choi SW, Hart PS, Wu WW, Shen RF, Hart TC.

Bone. 2008 Jan;42(1):162-71. Epub 2007 Sep 19.

43.

Disorders of human dentin.

Hart PS, Hart TC.

Cells Tissues Organs. 2007;186(1):70-7.

44.

Germ line gain of function with SOS1 mutation in hereditary gingival fibromatosis.

Jang SI, Lee EJ, Hart PS, Ramaswami M, Pallos D, Hart TC.

J Biol Chem. 2007 Jul 13;282(28):20245-55. Epub 2007 May 17.

45.

Exclusion of known gene for enamel development in two Brazilian families with amelogenesis imperfecta.

Santos MC, Hart PS, Ramaswami M, Kanno CM, Hart TC, Line SR.

Head Face Med. 2007 Jan 31;3:8.

46.

Clinical, genetic, and biochemical findings in two siblings with Papillon-Lefèvre Syndrome.

Cagli NA, Hakki SS, Dursun R, Toy H, Gokalp A, Ryu OH, Hart PS, Hart TC.

J Periodontol. 2005 Dec;76(12):2322-9.

PMID:
16332247
47.

Phenotype of ENAM mutations is dosage-dependent.

Ozdemir D, Hart PS, Firatli E, Aren G, Ryu OH, Hart TC.

J Dent Res. 2005 Nov;84(11):1036-41.

48.

MMP20 active-site mutation in hypomaturation amelogenesis imperfecta.

Ozdemir D, Hart PS, Ryu OH, Choi SJ, Ozdemir-Karatas M, Firatli E, Piesco N, Hart TC.

J Dent Res. 2005 Nov;84(11):1031-5.

49.

Variation in dental and skeletal open bite malocclusion in humans with amelogenesis imperfecta.

Ravassipour DB, Powell CM, Phillips CL, Hart PS, Hart TC, Boyd C, Wright JT.

Arch Oral Biol. 2005 Jul;50(7):611-23. Epub 2005 Mar 2.

PMID:
15892947
50.

MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta.

Kim JW, Simmer JP, Hart TC, Hart PS, Ramaswami MD, Bartlett JD, Hu JC.

J Med Genet. 2005 Mar;42(3):271-5. No abstract available.

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