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P

P. Suzanne Hart

University of Bristol

35H指数
89论文数
4.5K被引数
收录论文 18
发表时间
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Variable Clinical Presentation of an MUC1 Mutation Causing Medullary Cystic Kidney Disease Type 1
errCLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
IF7.1
err2014-03-01
err61
errOAAI
errBleyer, Anthony J.; Kmoch, Stanislav; Antignac, Corinne; Robins, Vicki; Kidd, Kendrah; Kelsoe, John R.; Hladik, Gerald; Klemmer, Philip; Knohl, Stephen J.; Scheinman, Steven J.; Nam Vo; Santi, Ann; Harris, Alese; Canaday, Omar; Weller, Nelson; Hulick, Peter J.; Vogel, Kristen; Rahbari-Oskoui, Frederick F.; Tuazon, Jennifer; Deltas, Constantinos; Somers, Douglas; Megarbane, Andre; Kimmel, Paul L.; Sperati, C. John; Orr-Urtreger, Avi; Ben-Shachar, Shay; Waugh, David A.; McGinn, Stella; Bleyer, Anthony J., Jr.; Hodanova, Katerina; Vylet'al, Petr; Zivna, Martina; Hart, Thomas C.; Hart, P. Suzanne
err分享
err收藏
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing
errNATURE GENETICS
IF31.8
err2013-02-10
err211
errOAAI
errKirby, Andrew; Gnirke, Andreas; Jaffe, David B.; Baresova, Veronika; Pochet, Nathalie; Blumenstiel, Brendan; Ye, Chun; Aird, Daniel; Stevens, Christine; Robinson, James T.; Cabili, Moran N.; Gat-Viks, Irit; Kelliher, Edward; Daza, Riza; DeFelice, Matthew; Hulkova, Helena; Sovova, Jana; Vylet'al, Petr; Antignac, Corinne; Guttman, Mitchell; Handsaker, Robert E.; Perrin, Danielle; Steelman, Scott; Sigurdsson, Snaevar; Scheinman, Steven J.; Sougnez, Carrie; Cibulskis, Kristian; Parkin, Melissa; Green, Todd; Rossin, Elizabeth; Zody, Michael C.; Xavier, Ramnik J.; Pollak, Martin R.; Alper, Seth L.; Lindblad-Toh, Kerstin; Gabriel, Stacey; Hart, P. Suzanne; Regev, Aviv; Nusbaum, Chad; Kmoch, Stanislav; Bleyer, Anthony J.; Lander, Eric S.; Daly, Mark J.
err分享
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PENETRANCE OF PD IN GLUCOCEREBROSIDASE GENEMUTATION CARRIERS
errNEUROLOGY
IF8.5
err2012-07-03
err9
errOAAI
errSidransky, Ellen; Hart, P. Suzanne
err分享
err收藏
Dominant Renin Gene Mutations Associated with Early-Onset Hyperuricemia, Anemia, and Chronic Kidney Failure
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2009-08-01
err135
errOAAI
errZivna, Martina; Hulkova, Helena; Matignon, Marie; Hodanova, Katerina; Vylet'al, Petr; Kalbacova, Marie; Baresova, Veronika; Sikora, Jakub; Blazkova, Hana; Zivny, Jan; Ivanek, Robert; Stranecky, Viktor; Sovova, Jana; Claes, Kathleen; Lerut, Evelyne; Fryns, Jean-Pierre; Hart, P. Suzanne; Hart, Thomas C.; Adams, Jeremy N.; Pawtowski, Audrey; Clemessy, Maud; Gasc, Jean-Marie; Guebler, Marie-Claire; Antignac, Corinne; Elleder, Milan; Kapp, Katja; Grimbert, Philippe; Bleyer, Anthony J.; Kmoch, Stanislav
err分享
err收藏
Phenotypic Variation in FAM83H-associated Amelogenesis Imperfecta
errJOURNAL OF DENTAL RESEARCH
IF5.9
err2009-04-30
err63
errOAAI
errWright, J. T.; Frazier-Bowers, S.; Simmons, D.; Alexander, K.; Crawford, P.; Han, S. T.; Hart, P. S.; Hart, T. C.
err分享
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The PDGF-C regulatory region SNP rs28999109 decreases promoter transcriptional activity and is associated with CL/PPdgf-c调控区SNP rs28999109降低启动子转录活性并与CL/P相关
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2008-12-17
err47
errOAAI
errChoi, Sun J.; Marazita, Mary L.; Hart, P. Suzanne; Sulima, Pawel P.; Field, L. Leigh; McHenry, Toby Goldstein; Govil, Manika; Cooper, Margaret E.; Letra, Ariadne; Menezes, Renato; Narayanan, Somnya; Mansilla, Maria Adela; Granjeiro, Jose M.; Vieira, Alexandre R.; Lidral, Andrew C.; Murray, Jeffrey C.; Hart, Thomas C.
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Overlapping DSPP Mutations Cause Dentin Dysplasia and Dentinogenesis Imperfecta
errJOURNAL OF DENTAL RESEARCH
IF5.9
err2008-12-01
err87
errOAAI
errMcKnight, D. A.; Simmer, J. P.; Hart, P. S.; Hart, T. C.; Fisher, L. W.
err分享
err收藏
A Comprehensive Analysis of Normal Variation and Disease-Causing Mutations in the Human DSPP Gene
errHUMAN MUTATION
IF3.7
err2008-12-01
err95
errOAAI
errMcKnight, Dianalee A.; Hart, P. Suzanne; Hart, Thomas C.; Hartsfield, James K.; Wilson, Anne; Wright, J. Timothy; Fisher, Larry W.
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Uniparental disomy of chromosome 1 causing concurrent Charcot-Marie-Tooth and Gaucher disease type 3
errNEUROLOGY
IF8.5
err2008-03-18
err17
errOAAI
errBenko, W. S.; Hruska, K. S.; Nagan, N.; Goker-Alpan, O.; Hart, P. S.; Schiffmann, R.; Sidransky, E.
err分享
err收藏
Germ line gain of function with SOS1 mutation in hereditary gingival fibromatosis
errJOURNAL OF BIOLOGICAL CHEMISTRY
IF3.9
err2007-07-01
err36
PREAI
errJang, Shyh-Ing; Lee, Eun-Jin; Hart, P. Suzanne; Ramaswami, Mukundhan; Pallos, Debora; Hart, Thomas C.
err分享
err收藏
Phenotype of ENAM mutations is dosage-dependent
errJOURNAL OF DENTAL RESEARCH
IF5.9
err2005-11-01
err81
errOAAI
errOzdemir, D; Hart, PS; Firatli, E; Aren, G; Ryu, OH; Hart, TC
err分享
err收藏
MMP20 active-site mutation in hypomaturation Amelogenesis Imperfecta
errJOURNAL OF DENTAL RESEARCH
IF5.9
err2005-11-01
err106
errOAAI
errOzdemir, D; Hart, PS; Ryu, OH; Choi, SJ; Ozdemir-Karatas, M; Firatli, E; Piesco, N; Hart, TC
err分享
err收藏
Proteolysis of macrophage inflammatory protein-1α isoforms LD78β and LD78α by neutrophil-derived serine proteases
errJOURNAL OF BIOLOGICAL CHEMISTRY
IF3.9
err2005-04-01
err51
errOAAI
errHee Ryu, OK; Choi, SJ; Firatli, E; Choi, SW; Hart, PS; Shen, RF; Wang, GH; Wu, WW; Hart, TC
err分享
err收藏
MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta
errJOURNAL OF MEDICAL GENETICS
IF3.7
err2005-03-01
err211
errOAAI
errKim, JW; Simmer, JP; Hart, TC; Hart, PS; Ramaswami, MD; Bartlett, JD; Hu, JCC
err分享
err收藏
Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta
errJOURNAL OF MEDICAL GENETICS
IF3.7
err2004-07-01
err234
errOAAI
errHart, PS; Hart, TC; Michalec, MD; Ryu, OH; Simmons, D; Hong, S; Wright, JT
err分享
err收藏
Identification of cathepsin C mutations in ethnically diverse Papillon-Lefevre syndrome patients
errJOURNAL OF MEDICAL GENETICS
IF3.7
err2000-12-01
err68
errOAAI
errHart, PS; Zhang, Y; Firatli, E; Uygur, C; Lotfazar, M; Michalec, MD; Marks, JJ; Lu, X; Coates, BJ; Seow, WK; MarshaIl, R; Williams, D; Reed, JB; Wright, JT; Hart, TC
err分享
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SPINK1/PSTI polymorphisms act as disease modifiers in familial and idiopathic chronic pancreatitisSPINK1/PSTI多态性在家族性和特发性慢性胰腺炎中充当疾病调节剂
errGASTROENTEROLOGY
IF25.1
err2000-09-01
err414
PREAI
errPfützer, RH; Barmada, MM; Brunskill, APJ; Finch, R; Hart, PS; Neoptolemos, J; Furey, WF; Whitcomb, DC
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Unique enamel phenotype associated with amelogenin gene (AMELX) codon 41 point mutation与釉原蛋白基因 (AMELX) 密码子41点突变相关的独特釉质表型
errJOURNAL OF DENTAL RESEARCH
IF5.9
err2000-07-01
err73
PREAI
errRavassipour, DB; Hart, PS; Hart, TC; Ritter, AV; Yamauchi, M; Gibson, C; Wright, JT
err分享
err收藏

研究方向

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