Suchergebnisse - Amanda Krause
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Lactase Haplotype Diversity in the Old World von Edward J. Hollox, Mark Poulter, Marek Zvarík, V. Ferák, Amanda Krause, Trefor Jenkins, Nilmani Saha, А. И. Козлов, Dallas M. Swallow
Veröffentlicht 2001Artigo -
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Junctophilin 3 (<i>JPH3</i>) expansion mutations causing Huntington disease like 2 (HDL2) are common in South African patients with African ancestry and a Huntington disease phenot... von Amanda Krause, Claire Mitchell, Fahmida Essop, Susan Tager, J. A. Temlett, Giovanni Stévanin, Christopher A. Ross, Dobrila D. Rudnicki, Russell L. Margolis
Veröffentlicht 2015Artigo -
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Huntington disease in the South African population occurs on diverse and ethnically distinct genetic haplotypes von Fiona Baine, Chris Kay, Maria E. Ketelaar, Jennifer A. Collins, Alicia Semaka, Crystal N. Doty, Amanda Krause, Leslie S. Greenberg, Michael R. Hayden
Veröffentlicht 2013Artigo -
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Increasing African genomic data generation and sharing to resolve rare and undiagnosed diseases in Africa: a call-to-action by the H3Africa rare diseases working group von Aimé Lumaka, Nadia Carstens, Koenraad Devriendt, Amanda Krause, Benard Kulohoma, Judit Kumuthini, Gerrye Mubungu, John Mukisa, Melissa Nel, Timothy O. Olanrewaju, Zané Lombard, Guida Landouré
Veröffentlicht 2022Artigo -
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BRCA1, BRCA2 and PALB2 mutations and CHEK2 c.1100delC in different South African ethnic groups diagnosed with premenopausal and/or triple negative breast cancer von Flavia Zita Francies, Tasha Wainstein, Kim De Leeneer, Alan C. Cairns, Marshall Murdoch, Sarah Nietz, Herbert Cubasch, Bruce Poppe, Tom Van Maerken, Brecht Crombez, Ilse Coene, Robyn Kerr, Jacobus Slabbert, Anne Vral, Amanda Krause, Ans Baeyens, Kathleen Claes
Veröffentlicht 2015Artigo -
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A Comprehensive Haplotype-Targeting Strategy for Allele-Specific HTT Suppression in Huntington Disease von Chris Kay, Jennifer A. Collins, Nicholas S. Caron, Luciana de Andrade Agostinho, Hailey Findlay-Black, Lorenzo Casal, Dulika Sumathipala, Vajira H. W. Dissanayake, Mario Cornejo‐Olivas, Fiona Baine, Amanda Krause, Jacquie Greenberg, Carmen Lúcia Antão Paiva, Ferdinando Squitieri, Michael R. Hayden
Veröffentlicht 2019Artigo -
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The molecular epidemiology of Huntington disease is related to intermediate allele frequency and haplotype in the general population von Chris Kay, Jennifer A. Collins, Galen E.B. Wright, Fiona Baine, Zosia Miedzybrodzka, Folefac Aminkeng, Alicia Semaka, Cassandra McDonald, M. J. Davidson, Steven J. Madore, Erynn S. Gordon, Norman P. Gerry, Mario Cornejo‐Olivas, Ferdinando Squitieri, Sarah A. Tishkoff, Jacquie Greenberg, Amanda Krause, Michael R. Hayden
Veröffentlicht 2018Artigo -
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Genetic Factors Influencing Warfarin Dose in Black‐African Patients: A Systematic Review and Meta‐Analysis von Innocent G. Asiimwe, Eunice J. Zhang, Rostam Osanlou, Amanda Krause, Chrisly Dillon, Guilherme Suarez‐Kurtz, Honghong Zhang, Jamila Alessandra Perini, Jessicca Y. Renta, Jorge Ducongé, Larisa H. Cavallari, Leiliane Rodrigues Marcatto, Mark T. Beasly, Minoli A. Perera, Nita A. Limdi, Paulo Caleb Júnior Lima Santos, Stephen E. Kimmel, Steven A. Lubitz, Stuart A. Scott, Vivian Kawai, Andrea Jorgensen, Munir Pirmohamed
Veröffentlicht 2019Revisão -
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Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of α-Dystroglycan von Elizabeth Stevens, Keren Carss, Sebahattin Çirak, A. Reghan Foley, Silvia Torelli, Tobias Willer, Dimira Tambunan, Shu Yau, Lina Brodd, Caroline A. Sewry, Lucy Feng, Göknur Haliloğlu, Dıclehan Orhan, William B. Dobyns, Gregory M. Enns, Melanie Manning, Amanda Krause, Mustafa A. Salih, Christopher A. Walsh, Matthew E. Hurles, Kevin P. Campbell, M. Chiara Manzini, Derek L. Stemple, Yung‐Yao Lin, Francesco Muntoni
Veröffentlicht 2013Artigo -
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Multiple TP53 p.R337H haplotypes and implications for tumor susceptibility von Emília M. Pinto, Cíntia Fridman, Bonald C. Figueiredo, Héctor Salvador, Manuel R. Teixeira, Carla Pinto, Manuela Pinheiro, Christian P. Kratz, Cinzia Lavarino, Edith F. Legal, Anh N. Le, Gregory J. Kelly, Erika Koeppe, Elena M. Stoffel, Kelsey Breen, Stefanie Hahner, Britta Heinze, Piti Techavichit, Amanda Krause, Tsutomu Ogata, Yasuko Fujisawa, Michael F. Walsh, Huma Q. Rana, Kara N. Maxwell, Judy E. Garber, Carlos Rodríguez‐Galindo, Raul C. Ribeiro, Gerard P. Zambetti
Veröffentlicht 2023Artigo -
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Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes von Enza Maria Valente, Clare V. Logan, Soumaya Mougou-Zerelli, Jeong Ho Lee, Jennifer L. Silhavy, Francesco Brancati, Miriam Iannicelli, Lorena Travaglini, Sveva Romani, Barbara Illi, Matthew Adams, Katarzyna Szymańska, Annalisa Mazzotta, Ji Eun Lee, Jerlyn C. Tolentino, Dominika Swistun, Carmelo Salpietro, Carmelo Fede, Stacey Gabriel, Carsten Russ, Kristian Cibulskis, Carrie Sougnez, Friedhelm Hildebrandt, Edgar A. Otto, Susanne Held, Bill H. Diplas, Erica E. Davis, Mario Mikula, Charles M. Strom, Bruria Ben‐Zeev, Dorit Lev, T. Sagie, Marina Michelson, Yuval Yaron, Amanda Krause, Eugen Boltshauser, Nadia Elkhartoufi, J. Roume, Stavit A. Shalev, Arnold Münnich, Sophie Saunier, Chris F. Inglehearn, Ali Saâd, Adila Al‐Kindy, Sophie Thomas, Michel Vekemans, Bruno Dallapiccola, Nicholas Katsanis, Colin A. Johnson, Tania Attié‐Bitach, Joseph G. Gleeson
Veröffentlicht 2010Artigo -
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New insights into genotype–phenotype correlation for GLI3 mutations von Florence Démurger, Amale Ichkou, Soumaya Mougou-Zerelli, Martine Le Merrer, Géraldine Goudefroye, Anne‐Lise Delezoide, Chloé Quēlin, Sylvie Manouvrier, Geneviève Baujat, Mélanie Fradin, Laurent Pasquier, André Mégarbané, Laurence Faivre, Clarisse Baumann, Sheela Nampoothiri, J. Roume, Bertrand Isidor, Didier Lacombe, Marie‐Ange Delrue, Sandra Mercier, Nicole Philip, Élise Schaefer, Muriel Holder, Amanda Krause, Fanny Laffargue, Martine Sinico, Daniel Amram, Gwenaëlle André, Alain Liquier, Massimiliano Rossi, Jeanne Amiel, Fabienne Giuliano, Odile Boute, Anne Dieux‐Coëslier, Marie‐Line Jacquemont, Alexandra Afenjar, Lionel Van Maldergem, Marylin Lackmy-Port-Lis, Catherine Vincent- Delorme, Marie-Liesse Chauvet, Valérie Cormier‐Daire, Louise Devisme, David Geneviève, Arnold Münnich, Géraldine Viot, O Raoul, Serge Romana, Marie Gonzalès, Férechté Encha‐Razavi, Sylvie Odent, Michel Vekemans, Tania Attié‐Bitach
Veröffentlicht 2014Artigo -
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Endogenous factor VIII synthesis from the intron 22–inverted F8 locus may modulate the immunogenicity of replacement therapy for hemophilia A von Gouri Shankar Pandey, Chen Yanover, Lisa M. Miller-Jenkins, Susan H. Garfield, Shelley A. Cole, Joanne E. Curran, Eric K. Moses, Natalia Rydz, Vijaya L. Simhadri, Chava Kimchi‐Sarfaty, David Lillicrap, Kevin R. Viel, Teresa M. Przytycka, Glenn F. Pierce, Tom E. Howard, Zuben E. Sauna, Jeanne M. Lusher, Meera Chitlur, Afshin Ameri, Kavita Natarajan, Rathi V. Iyer, Alexis A. Thompson, Raymond G. Watts, Christine L. Kempton, Craig M. Kessler, John C. Barrett, Erica J. Martin, Nigel S. Key, Rebecca Kruse‐Jarres, Cindy Lessinger, Kathleen P. Pratt, Neil C. Josephson, Kevin McRedmond, Janice S. Withycombe, Christopher A. Walsh, Dana C. Matthews, Johnny Mahlangu, Amanda Krause, Rosemary Schwyzer, Rajendra Thejpal, Nadine Rapiti, Yasmin Goga, M Coetzee, David Stones, Kenneth G. Mann, Saulius Butenas, Laura Almasy, John Blangero, Melanie A. Carless, Raja Rajalingam, Elaine F. Reed
Veröffentlicht 2013Artigo -
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Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy von Johann Böhm, Valérie Biancalana, Elizabeth T. DeChene, Marc Bitoun, Christopher R. Pierson, Élise Schaefer, Hatice Karasoy, Melissa A Dempsey, Fabrice Klein, Nicolas Dondaine, Christine Kretz, Nicolas Haumesser, Claire Poirson, Anne Toussaint, Rebecca S. Greenleaf, Melissa A. Barger, Lane J. Mahoney, Peter B. Kang, Edmar Zanoteli, John Vissing, Nanna Witting, Andoni Echaniz‐Laguna, Carina Wallgren‐Pettersson, James J. Dowling, Luciano Merlini, Anders Oldfors, Lilian Bomme Ousager, Judith Melki, Amanda Krause, Christina Jern, Acary Sousa Bulle Oliveira, Florence Petit, Aurélia Jacquette, Annabelle Chaussenot, David Mowat, Bruno Leheup, Michele Cristofano, Juan José Poza Aldea, Fabrice Michel, A. Furby, José Eulalio Bárcena, Rudy Van Coster, Enrico Bertini, Jon Andoni Urtizberea, Valérie Drouin‐Garraud, Christophe Béroud, Bernard Prudhon, Melanie Bedford, Katherine D. Mathews, Lori A.H. Erby, Stephen A. Smith, Jennifer Roggenbuck, Carol A. Crowe, Allison Brennan Spitale, Sheila C. Johal, Anthony A. Amato, Laurie Demmer, Jessica Jonas, Basil T. Darras, Thomas D. Bird, Mercy Laurino, Selman I. Welt, Cynthia Trotter, Pascale Guicheney, Soma Das, Jean‐Louis Mandel, Alan H. Beggs, Jocelyn Laporte
Veröffentlicht 2012Artigo
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Biology
Genetics
Gene
Medicine
Mutation
Allele
Internal medicine
Haplotype
Phenotype
Disease
Population
Antibody
Founder effect
Huntington's disease
Immunology
Allele frequency
Biochemistry
Cell biology
Computer science
Demography
Dermatology
Environmental health
Evolutionary biology
Genotype
Germline mutation
Haplogroup
Pathology
Serology
Sociology
Virology