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Material Type: Artigo
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Meiotic arrest and aneuploidy in MLH3-deficient miceLipkin, Steven M ; Cohen, Paula E ; Moens, Peter B ; Wang, Victoria ; Lenzi, Michelle ; Shanmugarajah, Dakshine ; Gilgeous, Abigail ; Thomas, James ; Cheng, Jun ; Touchman, Jeffrey W ; Green, Eric D ; Schwartzberg, Pam ; Collins, Francis SNature genetics, 2002-08, Vol.31 (4), p.385-390 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Positional cloning moves from perditional to traditionalCollins, Francis SNature genetics, 1995-04, Vol.9 (4), p.347-350 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Identification of the gene ( BBS1 ) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndromeSheffield, Val C ; Mykytyn, Kirk ; Nishimura, Darryl Y ; Searby, Charles C ; Shastri, Mythreyi ; Yen, Hsan-jan ; Beck, John S ; Braun, Terry ; Streb, Luan M ; Cornier, Alberto S ; Cox, Gerald F ; Fulton, Anne B ; Carmi, Rivka ; Lüleci, Güven ; Chandrasekharappa, Settara C ; Collins, Francis S ; Jacobson, Samuel G ; Heckenlively, John R ; Weleber, Richard G ; Stone, Edwin MNature genetics, 2002-08, Vol.31 (4), p.435-438 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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What we do and don't know about 'race', 'ethnicity', genetics and health at the dawn of the genome eraCollins, Francis SNature genetics, 2004-11, Vol.36 (11 Suppl), p.S13-S15 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Mutations in the human Jagged1 gene are responsible for Alagille syndromeOda, Takaya ; Elkahloun, Abdel G ; Pike, Brian L ; Okajima, Kazuki ; Krantz, Ian D ; Genin, Anna ; Piccoli, David A ; Meltzer, Paul S ; Spinner, Nancy B ; Collins, Francis S ; Chandrasekharappa, Settara CNature genetics, 1997-07, Vol.16 (3), p.235-242 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Determination of ancestral alleles for human single-nucleotide polymorphisms using high-density oligonucleotide arraysCollins, Francis S ; Hacia, Joseph G ; Fan, Jian-Bing ; Ryder, Oliver ; Jin, Li ; Edgemon, Keith ; Ghandour, Ghassan ; Mayer, R. Aeryn ; Sun, Bryan ; Hsie, Linda ; Robbins, Christiane M ; Brody, Lawrence C ; Wang, David ; Lander, Eric S ; Lipshutz, Robert ; Fodor, Stephen P.ANature genetics, 1999-06, Vol.22 (2), p.164-167 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Newly identified loci that influence lipid concentrations and risk of coronary artery diseaseNarisu, Narisu ; Lakatta, Edward ; Mohlke, Karen L ; Willer, Cristen J ; Shuldiner, Alan R ; Najjar, Samer S ; Davey-Smith, George ; Scuteri, Angelo ; Zelenika, Diana ; Li, Yun ; Galan, Pilar ; Shen, Haiqing ; Schlessinger, David ; Lawlor, Debbie A ; Collins, Francis S ; Strait, James ; Meneton, Pierre ; Duren, William L ; Clarke, Robert ; Watanabe, Richard M ; Ebrahim, Shah ; Mulas, Antonella ; Uda, Manuela ; Swift, Amy J ; Albai, Giuseppe ; Bergman, Richard N ; Maschio, Andrea ; Collins, Rory ; Tuomilehto, Jaakko ; Scott, Laura J ; Bonnycastle, Lori L ; Hercberg, Serge ; Busonero, Fabio ; Boehnke, Michael ; Nagaraja, Ramaiah ; Jackson, Anne U ; Ben-Shlomo, Yoav ; Morken, Mario A ; Heath, Simon C ; Stringham, Heather M ; Abecasis, Gonçalo R ; Cao, Antonio ; Scheet, Paul A ; Lathrop, G Mark ; Parish, Sarah ; Bennett, Derrick ; Chen, Wei-Min ; Sundvall, Jouko ; Timpson, Nicholas J ; Sanna, SerenaNature genetics, 2008-02, Vol.40 (2), p.161-169 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretionHuyghe, Jeroen R ; Jackson, Anne U ; Fogarty, Marie P ; Buchkovich, Martin L ; Stančáková, Alena ; Stringham, Heather M ; Sim, Xueling ; Yang, Lingyao ; Fuchsberger, Christian ; Cederberg, Henna ; Chines, Peter S ; Teslovich, Tanya M ; Romm, Jane M ; Ling, Hua ; McMullen, Ivy ; Ingersoll, Roxann ; Pugh, Elizabeth W ; Doheny, Kimberly F ; Neale, Benjamin M ; Daly, Mark J ; Kuusisto, Johanna ; Scott, Laura J ; Kang, Hyun Min ; Collins, Francis S ; Abecasis, Gonçalo R ; Watanabe, Richard M ; Boehnke, Michael ; Laakso, Markku ; Mohlke, Karen LNature genetics, 2013-02, Vol.45 (2), p.197-201 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresisTenney, Alan P ; Di Gioia, Silvio Alessandro ; Webb, Bryn D ; Chan, Wai-Man ; de Boer, Elke ; Garnai, Sarah J ; Barry, Brenda J ; Ray, Tammy ; Kosicki, Michael ; Robson, Caroline D ; Zhang, Zhongyang ; Collins, Thomas E ; Gelber, Alon ; Pratt, Brandon M ; Fujiwara, Yuko ; Varshney, Arushi ; Lek, Monkol ; Warburton, Peter E ; Van Ryzin, Carol ; Lehky, Tanya J ; Zalewski, Christopher ; King, Kelly A ; Brewer, Carmen C ; Thurm, Audrey ; Snow, Joseph ; Facio, Flavia M ; Narisu, Narisu ; Bonnycastle, Lori L ; Swift, Amy ; Chines, Peter S ; Bell, Jessica L ; Mohan, Suresh ; Whitman, Mary C ; Staffieri, Sandra E ; Elder, James E ; Demer, Joseph L ; Torres, Alcy ; Rachid, Elza ; Al-Haddad, Christiane ; Boustany, Rose-Mary ; Mackey, David A ; Brady, Angela F ; Fenollar-Cortés, María ; Fradin, Melanie ; Kleefstra, Tjitske ; Padberg, George W ; Raskin, Salmo ; Sato, Mario Teruo ; Orkin, Stuart H ; Parker, Stephen C J ; Hadlock, Tessa A ; Vissers, Lisenka E L M ; van Bokhoven, Hans ; Jabs, Ethylin Wang ; Collins, Francis S ; Pennacchio, Len A ; Manoli, Irini ; Engle, Elizabeth CNature genetics, 2023-07, Vol.55 (7), p.1149-1163 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Common variants in the GDF5-UQCC region are associated with variation in human heightAbecasis, Gonçalo R ; Mohlke, Karen L ; Sanna, Serena ; Jackson, Anne U ; Nagaraja, Ramaiah ; Willer, Cristen J ; Chen, Wei-Min ; Bonnycastle, Lori L ; Shen, Haiqing ; Timpson, Nicholas ; Lettre, Guillaume ; Usala, Gianluca ; Chines, Peter S ; Stringham, Heather M ; Scott, Laura J ; Dei, Mariano ; Lai, Sandra ; Albai, Giuseppe ; Crisponi, Laura ; Naitza, Silvia ; Doheny, Kimberly F ; Pugh, Elizabeth W ; Ben-Shlomo, Yoav ; Ebrahim, Shah ; Lawlor, Debbie A ; Bergman, Richard N ; Watanabe, Richard M ; Uda, Manuela ; Tuomilehto, Jaakko ; Coresh, Josef ; Hirschhorn, Joel N ; Shuldiner, Alan R ; Schlessinger, David ; Collins, Francis S ; Smith, George Davey ; Boerwinkle, Eric ; Cao, Antonio ; Boehnke, MichaelNature genetics, 2008-02, Vol.40 (2), p.198-203 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |