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1.

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

Zivná, Martina; Hulková, Helena; Matignon, Marie; Hodanová, Katerina; Vylet'al, Petr; Kalbácová, Marie; Baresová, Veronika; Sikora, Jakub; Blazková, Hana; Zivný, Jan; Ivánek, Robert; Stránecký, Viktor; Sovová, Jana; Claes, Kathleen; Lerut, Evelyne; Fryns, Jean-Pierre; Hart, P Suzanne; Hart, Thomas C; Adams, Jeremy N; Pawtowski, Audrey; Clemessy, Maud; Gasc, Jean-Marie; Gübler, Marie-Claire; Antignac, Corinne; Elleder, Milan; Kapp, Katja; Grimbert, Philippe; Bleyer, Anthony J; Kmoch, Stanislav.

Am J Hum Genet ; 85(2): 204-13, 2009 Aug.

Artículo en Inglés | MEDLINE | ID: mdl-19664745

2.

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

Gunay-Aygun, Meral; Zivony-Elboum, Yifat; Gumruk, Fatma; Geiger, Dan; Cetin, Mualla; Khayat, Morad; Kleta, Robert; Kfir, Nehama; Anikster, Yair; Chezar, Judith; Arcos-Burgos, Mauricio; Shalata, Adel; Stanescu, Horia; Manaster, Joseph; Arat, Mutlu; Edwards, Hailey; Freiberg, Andrew S; Hart, P Suzanne; Riney, Lauren C; Patzel, Katherine; Tanpaiboon, Pranoot; Markello, Tom; Huizing, Marjan; Maric, Irina; Horne, McDonald; Kehrel, Beate E; Jurk, Kerstin; Hansen, Nancy F; Cherukuri, Praveen F; Jones, Marypat; Cruz, Pedro; Mullikin, Jim C; Nurden, Alan; White, James G; Gahl, William A; Falik-Zaccai, Tzippora.

Blood ; 116(23): 4990-5001, 2010 Dec 02.

Artículo en Inglés | MEDLINE | ID: mdl-20709904

3.

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

Denadai, Rafael; Raposo-Amaral, Cassio E; Bertola, Débora; Kim, Chong; Alonso, Nivaldo; Hart, Thomas; Han, Sangwoo; Stelini, Rafael F; Buzzo, Celso L; Raposo-Amaral, Cesar A; Hart, P Suzanne.

Am J Med Genet A ; 158A(4): 732-42, 2012 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-22383261

4.

Amelogenesis imperfecta: genotype-phenotype studies in 71 families.

Wright, J Timothy; Torain, Melody; Long, Kimberly; Seow, Kim; Crawford, Peter; Aldred, Michael J; Hart, P Suzanne; Hart, Tom C.

Cells Tissues Organs ; 194(2-4): 279-83, 2011.

Artículo en Inglés | MEDLINE | ID: mdl-21597265

5.

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

Manoli, Irini; Golas, Gretchen; Westbroek, Wendy; Vilboux, Thierry; Markello, Thomas C; Introne, Wendy; Maynard, Dawn; Pederson, Ben; Tsilou, Ekaterini; Jordan, Michael B; Hart, P Suzanne; White, James G; Gahl, William A; Huizing, Marjan.

Am J Med Genet A ; 152A(6): 1474-83, 2010 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-20503323

6.

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

Schäffer, Péter; Gombos, Eva; Meichelbeck, Krisztina; Kiss, András; Hart, P Suzanne; Bleyer, Anthony J.

Pediatr Nephrol ; 25(7): 1355-60, 2010 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-20151160

7.

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

Becerik, Sema; Cogulu, Dilsah; Emingil, Gülnur; Han, Ted; Hart, P Suzanne; Hart, Thomas C.

Am J Med Genet A ; 149A(7): 1392-8, 2009 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-19530186

8.

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

Wright, J Timothy; Hart, Thomas C; Hart, P Suzanne; Simmons, Darrin; Suggs, Cynthia; Daley, Bill; Simmer, Jim; Hu, Jan; Bartlett, John D; Li, Yong; Yuan, Zhi-An; Seow, W Kim; Gibson, Carolyn W.

Cells Tissues Organs ; 189(1-4): 224-9, 2009.

Artículo en Inglés | MEDLINE | ID: mdl-18714142

9.

Oral rehabilitation of a patient with amelogenesis imperfecta.

Cogulu, Dilsah; Becerik, Sema; Emingil, Gülnur; Hart, P Suzanne; Hart, Thomas C.

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

Artículo en Inglés | MEDLINE | ID: mdl-20108745

10.

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

Kaur, Manjit; Hadley, Donald W; Muenke, Maximilian; Hart, P Suzanne.

Mol Genet Genomic Med ; 7(1): e00599, 2019 01.

Artículo en Inglés | MEDLINE | ID: mdl-30786327

11.

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

Choi, Sun Jin; Song, In Sun; Ryu, Ok Hee; Choi, Sung Won; Hart, P Suzanne; Wu, Wells W; Shen, Rong-Fong; Hart, Thomas C.

Bone ; 42(1): 162-71, 2008 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-17950683

12.

Disorders of human dentin.

Hart, P Suzanne; Hart, Thomas C.

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

Artículo en Inglés | MEDLINE | ID: mdl-17627120

13.

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

Ferreira, Carlos R; Regier, Debra S; Hadley, Donald W; Hart, P Suzanne; Muenke, Maximilian.

Mol Genet Genomic Med ; 5(4): 307-316, 2017 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-28717657

14.

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

Cagli, N Arzu; Hakki, Sema S; Dursun, Recep; Toy, Hatice; Gokalp, Alparslan; Ryu, Ok Hee; Hart, P Suzanne; Hart, Thomas C.

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

Artículo en Inglés | MEDLINE | ID: mdl-16332247

15.

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

Ravassipour, Darren B; Powell, Cynthia M; Phillips, Ceib L; Hart, P Suzanne; Hart, Thomas C; Boyd, Courtney; Wright, J Tim.

Arch Oral Biol ; 50(7): 611-23, 2005 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-15892947

16.

Foreword to volume 3, issue 6.

Hart, P Suzanne; Muenke, Maximilian.

Mol Genet Genomic Med ; 3(6): 481-2, 2015 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-26740938

17.

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

Ozdemir-Karatas, Meltem; Ozdemir-Ozenen, Didem; Hart, P Suzanne; Hart, Thomas C.

Case Rep Dent ; 2014: 605892, 2014.

Artículo en Inglés | MEDLINE | ID: mdl-25587461

18.

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

Bleyer, Anthony J; Kmoch, Stanislav; Antignac, Corinne; Robins, Vicki; Kidd, Kendrah; Kelsoe, John R; Hladik, Gerald; Klemmer, Philip; Knohl, Stephen J; Scheinman, Steven J; Vo, Nam; 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; Hodanová, Katerina; Vylet'al, Petr; Zivná, Martina; Hart, Thomas C; Hart, P Suzanne.

Clin J Am Soc Nephrol ; 9(3): 527-35, 2014 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-24509297

19.

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

Tanpaiboon, Pranoot; Sloan, Jennifer L; Callahan, Patrick F; McAreavey, Dorothea; Hart, P Suzanne; Lichter-Konecki, Uta; Zand, Dina; Venditti, Charles P.

JIMD Rep ; 10: 33-8, 2013.

Artículo en Inglés | MEDLINE | ID: mdl-23430797

20.

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

Kirby, Andrew; Gnirke, Andreas; Jaffe, David B; Baresová, 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; Hulková, Helena; Sovová, 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.

Nat Genet ; 45(3): 299-303, 2013 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-23396133

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