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Refinado por: Base de dados/Biblioteca: Academic Search Premier remover assunto: Life Sciences & Biomedicine remover Genetic Predisposition To Disease remover Adult remover
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1
Identification of six new susceptibility loci for invasive epithelial ovarian cancer
Identification of six new susceptibility loci for invasive epithelial ovarian cancer
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Identification of six new susceptibility loci for invasive epithelial ovarian cancer

Kuchenbaecker, Karoline B ; Ramus, Susan J ; Lee, Andrew ; Lawrenson, Kate ; McGuffog, Lesley ; Lee, Janet M ; Spindler, Tassja J ; Lin, Yvonne G ; Coetzee, Simon ; Hazelett, Dennis ; Southey, Melissa ; Janavicius, Ramunas ; Dorfling, Cecilia M ; Neuhausen, Susan L ; Gerdes, Anne-Marie ; Barrowdale, Daniel ; Ganschow, Pamela ; Bernard, Loris ; Ottini, Laura ; Garber, Judy ; Frost, Debra ; Platte, Radka ; Ellis, Steve ; Godwin, Andrew K ; Meindl, Alfons ; Damiola, Francesca ; De Leeneer, Kim ; Piedmonte, Marion ; Caldes, Trinidad ; Aittomäki, Kristiina ; Isaccs, Claudine ; Imyanitov, Evgeny N ; Caligo, Maria A ; Diez, Orland ; Blanco, Ignacio ; Jakubowska, Anna ; Lubinski, Jan ; Sukiennicki, Grzegorz ; Simard, Jacques ; Montagna, Marco ; Lindor, Noralane ; Kauff, Noah ; Vijai, Joseph ; Aghajanian, Carol A ; Berger, Andreas ; Mulligan, Anna Marie ; Andrulis, Irene L ; Kruse, Torben A ; Bojesen, Anders ; Zidan, Jamal ; Arver, Brita ; Einbeigi, Zakaria ; Stenmark-Askmalm, Marie ; Domchek, Susan M ; Lester, Jenny ; Hein, Alexander ; Fasching, Peter A ; Lambrechts, Diether ; Vergote, Ignace ; Doherty, Jennifer A ; Wicklund, Kristine G ; Goodman, Marc T ; Shvetsov, Yurii B ; Hillemanns, Peter ; Dörk, Thilo ; Leminen, Arto ; Butzow, Ralf ; Modugno, Francesmary ; Edwards, Robert P ; Kjaer, Susanne Kruger ; Hasmad, Hanis Nazihah ; Goode, Ellen L ; Vierkant, Robert A ; Bruinsma, Fiona ; Bisogna, Maria ; Berchuck, Andrew ; Poole, Elizabeth M ; Tworoger, Shelley S ; Bandera, Elisa V ; Orlow, Irene ; Kiemeney, Lambertus A ; Massuger, Leon F A G ; Brooks-Wilson, Angela ; Le, Nhu D ; Cybulski, Cezary ; Hogdall, Claus ; Nedergaard, Lotte ; Song, Honglin ; Sieh, Weiva ; Ji, Bu-Tian ; Gao, Yu-Tang ; Risch, Harvey A ; Lin, Hui-Yi ; Tsai, Ya-Yu ; Anton-Culver, Hoda ; Wu, Anna H ; Kupryjanczyk, Jolanta ; Freedman, Matt ; Noushmehr, Houtan ; Offit, Kenneth

Nature genetics, 2015-02, Vol.47 (2), p.164-171 [Periódico revisado por pares]

United States: Nature Publishing Group

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2
Allele-specific NKX2-5 binding underlies multiple genetic associations with human electrocardiographic traits
Allele-specific NKX2-5 binding underlies multiple genetic associations with human electrocardiographic traits
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Allele-specific NKX2-5 binding underlies multiple genetic associations with human electrocardiographic traits

Benaglio, Paola ; D'Antonio-Chronowska, Agnieszka ; Ma, Wubin ; Yang, Feng ; Young Greenwald, William W ; Donovan, Margaret K R ; DeBoever, Christopher ; Li, He ; Drees, Frauke ; Singhal, Sanghamitra ; Matsui, Hiroko ; van Setten, Jessica ; Sotoodehnia, Nona ; Gaulton, Kyle J ; Smith, Erin N ; D'Antonio, Matteo ; Rosenfeld, Michael G ; Frazer, Kelly A

Nature genetics, 2019-10, Vol.51 (10), p.1506-1517 [Periódico revisado por pares]

United States: Nature Publishing Group

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3
Novel compound heterozygous TMEM67 variants in a Vietnamese family with Joubert syndrome: a case report
Novel compound heterozygous TMEM67 variants in a Vietnamese family with Joubert syndrome: a case report
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Novel compound heterozygous TMEM67 variants in a Vietnamese family with Joubert syndrome: a case report

Bui, Thi Phuong Hoa ; Nguyen, Ngoc Tu ; Ngo, Van Doan ; Nguyen, Hoai-Nghia ; Ly, Thi Thanh Ha ; Do, Huy Duong ; Huynh, Minh-Tuan

BMC medical genetics, 2020-01, Vol.21 (1), p.18-18, Article 18 [Periódico revisado por pares]

England: BioMed Central Ltd

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4
Association of TNFAIP3 Polymorphism with Susceptibility to Systemic Lupus Erythematosus in a Japanese Population
Association of TNFAIP3 Polymorphism with Susceptibility to Systemic Lupus Erythematosus in a Japanese Population
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Association of TNFAIP3 Polymorphism with Susceptibility to Systemic Lupus Erythematosus in a Japanese Population

Kawasaki, Aya ; Ito, Ikue ; Ito, Satoshi ; Hayashi, Taichi ; Goto, Daisuke ; Matsumoto, Isao ; Takasaki, Yoshinari ; Hashimoto, Hiroshi ; Sumida, Takayuki ; Tsuchiya, Naoyuki Via, Charles

BioMed research international, 2010-01, Vol.2010, p.207578-5 [Periódico revisado por pares]

United States: Hindawi Publishing Corporation

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5
Association of tagging single nucleotide polymorphisms on 8 candidate genes in dopaminergic pathway with schizophrenia in Croatian population
Association of tagging single nucleotide polymorphisms on 8 candidate genes in dopaminergic pathway with schizophrenia in Croatian population
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Association of tagging single nucleotide polymorphisms on 8 candidate genes in dopaminergic pathway with schizophrenia in Croatian population

Pal, Prodipto ; Mihanović, Mate ; Molnar, Sven ; Xi, Huifeng ; Sun, Guangyun ; Guha, Saurav ; Jeran, Nina ; Tomljenović, Andrea ; Malnar, Ana ; Missoni, Sasa ; Deka, Ranjan ; Rudan, Pavao

Croatian medical journal, 2009-08, Vol.50 (4), p.361-369 [Periódico revisado por pares]

Croatia: Sveuciliste U Zagrebu

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6
Relation between genetic variants of the ataxia telangiectasia-mutated ( ) gene, drug resistance, clinical outcome and predisposition to childhood T-lineage acute lymphoblastic leukaemia
Relation between genetic variants of the ataxia telangiectasia-mutated ( ) gene, drug resistance, clinical outcome and predisposition to childhood T-lineage acute lymphoblastic leukaemia
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Relation between genetic variants of the ataxia telangiectasia-mutated ( ) gene, drug resistance, clinical outcome and predisposition to childhood T-lineage acute lymphoblastic leukaemia

MEIER, M ; DEN BOER, M. L ; HALL, A. G ; IRVING, J. A. E ; PASSIER, M ; MINTO, L ; VAN WERING, E. R ; JANKA-SCHAUB, G. E ; PIETERS, R

Leukemia, 2005-11, Vol.19 (11), p.1887-1895 [Periódico revisado por pares]

London: Nature Publishing

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7
Prohibitin mutations are uncommon in prostate cancer families linked to chromosome 17q
Prohibitin mutations are uncommon in prostate cancer families linked to chromosome 17q
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Prohibitin mutations are uncommon in prostate cancer families linked to chromosome 17q

White, K A ; Lange, E M ; Ray, A M ; Wojno, K J ; Cooney, K A

Prostate cancer and prostatic diseases, 2006-09, Vol.9 (3), p.298-302 [Periódico revisado por pares]

England: Nature Publishing Group

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8
Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity
Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity
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Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity

Harper, Andrew R ; Goel, Anuj ; Grace, Christopher ; Thomson, Kate L ; Petersen, Steffen E ; Xu, Xiao ; Waring, Adam ; Ormondroyd, Elizabeth ; Kramer, Christopher M ; Ho, Carolyn Y ; Neubauer, Stefan ; Tadros, Rafik ; Ware, James S ; Bezzina, Connie R ; Farrall, Martin ; Watkins, Hugh

Nature genetics, 2021-02, Vol.53 (2), p.135-142 [Periódico revisado por pares]

United States: Nature Publishing Group

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9
Variation in FTO contributes to childhood obesity and severe adult obesity
Variation in FTO contributes to childhood obesity and severe adult obesity
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Variation in FTO contributes to childhood obesity and severe adult obesity

Balkau, Beverley ; Marre, Michel ; Lecoeur, Cecile ; Jacobson, Peter ; Gallina, Sophie ; Meyre, David ; Vatin, Vincent ; Ruiz, Juan ; Froguel, Philippe ; Potoczna, Natascha ; Carlsson, Lena M S ; Dina, Christian ; Körner, Antje ; Levy-Marchal, Claire ; Cauchi, Stéphane ; Vaillant, Emmanuel ; Hercberg, Serge ; Le Stunff, Catherine ; Durand, Emmanuelle ; Weill, Jacques ; Horber, Fritz ; Delplanque, Jérome ; Kiess, Wieland ; Kovacs, Peter ; Chèvre, Jean-Claude ; Bougnères, Pierre ; Pattou, François

Nature genetics, 2007-06, Vol.39 (6), p.724-726 [Periódico revisado por pares]

United States: Nature Publishing Group

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10
Spontaneous preterm birth and single nucleotide gene polymorphisms: a recent update
Spontaneous preterm birth and single nucleotide gene polymorphisms: a recent update
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Spontaneous preterm birth and single nucleotide gene polymorphisms: a recent update

Sheikh, Ishfaq A ; Ahmad, Ejaz ; Jamal, Mohammad S ; Rehan, Mohd ; Assidi, Mourad ; Tayubi, Iftikhar A ; AlBasri, Samera F ; Bajouh, Osama S ; Turki, Rola F ; Abuzenadah, Adel M ; Damanhouri, Ghazi A ; Beg, Mohd A ; Al-Qahtani, Mohammed

BMC genomics, 2016-10, Vol.17 (Suppl 9), p.759-759, Article 759 [Periódico revisado por pares]

England: BioMed Central Ltd

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