HuGE Literature Finder
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Records 1-100
Early-onset autoimmune vitiligo associated with an enhancer variant haplotype that upregulates class II HLA expression.
Nature communications 2019 01 10 (1): 391. Jin Ying, Roberts Genevieve H L, Ferrara Tracey M, Ben Songtao, van Geel Nanja, Wolkerstorfer Albert, Ezzedine Khaled, Siebert Janet, Neff Charles P, Palmer Brent E, Santorico Stephanie A, Spritz Richard |
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Synonymous mutation adenomatous polyposis coli?486s affects exon splicing and may predispose patients to adenomatous polyposis coli/mutY DNA glycosylase mutation?negative familial adenomatous polyposis.
Molecular medicine reports 2018 Sep . Liu Wei Qing, Dong Jian, Peng Yan Xia, Li Wen Liang, Yang J |
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Association of WNT Pathway Genes With Nonsyndromic Cleft Lip With or Without Cleft Palate.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2018 Mar 55 (3): 335-341. Vijayan V, Ummer R, Weber R, Silva R, Letra |
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Promoter polymorphisms in TGF-®1 and IL-10 genes influence tumor dendritic cells infiltration, development and prognosis of colorectal cancer.
The journal of gene medicine 2018 Jan . Gulubova Maya, Aleksandrova Elina, Vlaykova Tatya |
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The genetically determined production of the alarmin eosinophil-derived neurotoxin is reduced in visceral leishmaniasis.
APMIS : acta pathologica, microbiologica, et immunologica Scandinavica 2017 Nov . Blom Kristin, Elshafie Amir I, Jönsson Ulla-Britt, Rönnelid Johan, Håkansson Lena Douhan, Venge P |
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MicroRNA-binding site polymorphisms in genes involved in colorectal cancer etiopathogenesis and their impact on disease prognosis.
Mutagenesis 2017 Oct 32 (5): 533-542. Schneiderova Michaela, Naccarati Alessio, Pardini Barbara, Rosa Fabio, Gaetano Cornelia Di, Jiraskova Katerina, Opattova Alena, Levy Miroslav, Veskrna Karel, Veskrnova Veronika, Buchler Tomas, Landi Stefano, Vodicka Pavel, Vymetalkova Veroni |
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Novel mutations and phenotypic associations identified through APC, MUTYH, NTHL1, POLD1, POLE gene analysis in Indian Familial Adenomatous Polyposis cohort.
Scientific reports 2017 May 7 (1): 2214. Khan Nikhat, Lipsa Anuja, Arunachal Gautham, Ramadwar Mukta, Sarin Raj |
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Inherited variants in genes somatically mutated in thyroid cancer.
PloS one 2017 12 (4): e0174995. Campo Chiara, Köhler Aleksandra, Figlioli Gisella, Elisei Rossella, Romei Cristina, Cipollini Monica, Bambi Franco, Hemminki Kari, Gemignani Federica, Landi Stefano, Försti As |
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Genetic polymorphisms of Wnt/?-catenin pathway genes are associated with the efficacy and toxicities of radiotherapy in patients with nasopharyngeal carcinoma.
Oncotarget 2016 Oct . Yu Jingjing, Huang Yuling, Liu Lijuan, Wang Jing, Yin Jiye, Huang Lihua, Chen Shaojun, Li Jingao, Yuan Hong, Yang Guoping, Liu Wenyu, Wang Hai, Pei Qi, Guo Chengxi |
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Genome-wide scan in two groups of HIV-infected patients treated with dendritic cell-based immunotherapy.
Immunologic research 2016 Oct . Moura Rodrigues Ronald, Plana Monserrat, Garcia Felipe, Zupin Luisa, Kuhn Louise, Crovella Serg |
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Wide spetcrum mutational analysis of metastatic renal cell cancer: a retrospective next generation sequencing approach.
Oncotarget 2016 Oct . Fiorentino Michelangelo, Gruppioni Elisa, Massari Francesco, Giunchi Francesca, Altimari Annalisa, Ciccarese Chiara, Bimbatti Davide, Scarpa Aldo, Iacovelli Roberto, Porta Camillo, Virinder Sarhadi, Tortora Giampaolo, Artibani Walter, Schiavina Riccardo, Ardizzoni Andrea, Brunelli Matteo, Knuutila Sakari, Martignoni Gui |
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Two subtypes of colorectal tumor with distinct molecular features in familial adenomatous polyposis.
Oncotarget 2016 Aug . Takane Kiyoko, Matsusaka Keisuke, Ota Satoshi, Fukuyo Masaki, Yue Yao, Nishimura Motoi, Sakai Eiji, Matsushita Kazuyuki, Miyauchi Hideaki, Aburatani Hiroyuki, Nakatani Yukio, Takayama Tadatoshi, Matsubara Hisahiro, Akagi Kiwamu, Kaneda Atsus |
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Gene-microbiota interactions contribute to the pathogenesis of inflammatory bowel disease.
Science (New York, N.Y.) 2016 May 352 (6289): 1116-20. Chu Hiutung, Khosravi Arya, Kusumawardhani Indah P, Kwon Alice H K, Vasconcelos Anilton C, Cunha Larissa D, Mayer Anne E, Shen Yue, Wu Wei-Li, Kambal Amal, Targan Stephan R, Xavier Ramnik J, Ernst Peter B, Green Douglas R, McGovern Dermot P B, Virgin Herbert W, Mazmanian Sarkis |
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AKT1 and BRAF mutations in pediatric aggressive fibromatosis.
Cancer medicine 2016 Apr . Meazza Cristina, Belfiore Antonino, Busico Adele, Settanni Giulio, Paielli Nicholas, Cesana Luca, Ferrari Andrea, Chiaravalli Stefano, Massimino Maura, Gronchi Alessandro, Colombo Chiara, Pilotti Silvana, Perrone Federi |
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NRAS germline variant G138R and multiple rare somatic mutations on APC in colorectal cancer patients in Taiwan by next generation sequencing.
Oncotarget 2016 Apr . Chang Pi-Yueh, Chen Jinn-Shiun, Chang Nai-Chung, Chang Shih-Cheng, Wang Mei-Chia, Tsai Shu-Hui, Wen Ying-Hao, Tsai Wen-Sy, Chan Err-Cheng, Lu Jang-J |
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Targeted next-generation sequencing detects a high frequency of potentially actionable mutations in metastatic breast cancers.
Experimental and molecular pathology 2016 Apr 100 (3): 421-425. Muller Kristen E, Marotti Jonathan D, de Abreu Francine B, Peterson Jason D, Miller Todd W, Chamberlin Mary D, Tsongalis Gregory J, Tafe Laura |
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Colorectal cancer risk variants at 8q23.3 and 11q23.1 are associated with disease phenotype in APC mutation carriers.
Familial cancer 2016 Feb . Ghorbanoghli Z, Nieuwenhuis M H, Houwing-Duistermaat J J, Jagmohan-Changur S, Hes F J, Tops C M, Wagner A, Aalfs C M, Verhoef S, Gómez García E B, Sijmons R H, Menko F H, Letteboer T G, Hoogerbrugge N, van Wezel T, Vasen H F A, Wijnen J |
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Mutation analysis of 13 driver genes of colorectal cancer-related pathways in Taiwanese patients.
World journal of gastroenterology 2016 Feb 22 (7): 2314-25. Chang Yuli Christine, Chang Jan-Gowth, Liu Ta-Chih, Lin Chien-Yu, Yang Shu-Fen, Ho Cheng-Mao, Chen William Tzu-Liang, Chang Ya-Si |
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Association of Wnt signaling pathway genetic variants in gallbladder cancer susceptibility and survival.
Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine 2015 Dec . Yadav Anu, Gupta Annapurna, Yadav Saurabh, Rastogi Neeraj, Agrawal Sushma, Kumar Ashok, Kumar Vijay, Misra Sanjeev, Mittal Balr |
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Mutation analysis of MUTYH in Japanese colorectal adenomatous polyposis patients.
Familial cancer 2015 Dec . Taki Keiko, Sato Yuri, Nomura Sachio, Ashihara Yuumi, Kita Mizuho, Tajima Ikufumi, Sugano Kokichi, Arai Masa |
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Contribution of APC and MUTYH mutations to familial adenomatous polyposis susceptibility in Hungary.
Familial cancer 2015 Oct . Papp Janos, Kovacs Marietta Eva, Matrai Zoltan, Orosz Enik?, Kásler Miklós, Børresen-Dale Anne-Lise, Olah Edi |
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Association of CD24 and the adenomatous polyposis coli gene polymorphisms with oral lichen planus.
Oral surgery, oral medicine, oral pathology and oral radiology 2015 Sep 120 (3): 378-85. Kaplan Ilana, Nabiochtchikov Ilana, Leshno Ari, Moshkowitz Menachem, Shlomi Benjamin, Kleinman Shlomi, Dagan Yaniv, Meshiach Yaacob, Galazan Lior, Arber Nadir, Avivi-Arber Limor, Kraus Sar |
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The APC I1307K allele conveys a significant increased risk for cancer.
International journal of cancer. Journal international du cancer 2015 Sep . Leshno Ari, Shapira Shiran, Liberman Eliezer, Kraus Sarah, Sror Miri, Harlap-Gat Amira, Avivi Doran, Galazan Lior, David Maayan, Maharshak Nitsan, Moanis Serhan, Arber Nadir, Moshkowitz Menach |
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Association of APC I1307K and E1317Q polymorphisms with colorectal cancer among Egyptian subjects.
Familial cancer 2015 Aug . Abdel-Malak Camelia, Darwish Hossam, Elsaid Afaf, El-Tarapely Fatma, Elshazli Ra |
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Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas.
International journal of cancer. Journal international du cancer 2015 Jul 137 (2): 320-31. Spier Isabel, Holzapfel Stefanie, Altmüller Janine, Zhao Bixiao, Horpaopan Sukanya, Vogt Stefanie, Chen Sophia, Morak Monika, Raeder Susanne, Kayser Katrin, Stienen Dietlinde, Adam Ronja, Nürnberg Peter, Plotz Guido, Holinski-Feder Elke, Lifton Richard P, Thiele Holger, Hoffmann Per, Steinke Verena, Aretz Stef |
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Wireless capsule endoscopy in adolescents with familial adenomatous polyposis.
Tumori 2015 Jul 0 (0): 0. Cavallo Debora, Ballardini Giovanni, Ferrari Andrea, Delconte Gabriele, Signoroni Stefano, Sala Paola, Chiaravalli Stefano, Massimino Maura, Bertario Lucio, Vitellaro Mar |
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Susceptibility to tuberculosis is associated with variants in the ASAP1 gene encoding a regulator of dendritic cell migration.
Nature genetics 2015 May 47 (5): 523-7. Curtis James, Luo Yang, Zenner Helen L, Cuchet-Lourenço Delphine, Wu Changxin, Lo Kitty, Maes Mailis, Alisaac Ali, Stebbings Emma, Liu Jimmy Z, Kopanitsa Liliya, Ignatyeva Olga, Balabanova Yanina, Nikolayevskyy Vladyslav, Baessmann Ingelore, Thye Thorsten, Meyer Christian G, Nürnberg Peter, Horstmann Rolf D, Drobniewski Francis, Plagnol Vincent, Barrett Jeffrey C, Nejentsev Serg |
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ERAP1 gene expression is influenced by non-synonymous polymorphisms associated with predisposition to spondyloarthritis.
Arthritis & rheumatology (Hoboken, N.J.) 2015 Mar . Costantino Félicie, Talpin Alice, Evnouchidou Irini, Kadi Amir, Leboime Ariane, Said-Nahal Roula, Bonilla Nelly, Letourneur Franck, Leturcq Tifenn, Ka Zeyna, van Endert Peter, Garchon Henri-Jean, Chiocchia Gilles, Breban Maxi |
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CD24: from a Hematopoietic Differentiation Antigen to a Genetic Risk Factor for Multiple Autoimmune Diseases.
Clinical reviews in allergy & immunology 2015 Feb . Tan Yixin, Zhao Ming, Xiang Bo, Chang Christopher, Lu Qianj |
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Common colorectal cancer risk alleles contribute to the multiple colorectal adenoma phenotype, but do not influence colonic polyposis in FAP.
European journal of human genetics : EJHG 2015 Feb 23 (2): 260-3. Cheng Timothy H T, Gorman Maggie, Martin Lynn, Barclay Ella, Casey Graham, , , Saunders Brian, Thomas Huw, Clark Sue, Tomlinson I |
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Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2015 Feb 33 (5): 426-32. Chubb Daniel, Broderick Peter, Frampton Matthew, Kinnersley Ben, Sherborne Amy, Penegar Steven, Lloyd Amy, Ma Yussanne P, Dobbins Sara E, Houlston Richard |
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Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer.
Genetics in medicine : official journal of the American College of Medical Genetics 2015 Feb 17 (2): 131-42. Esteban-Jurado Clara, Vila-Casadesús Maria, Garre Pilar, Lozano Juan José, Pristoupilova Anna, Beltran Sergi, Muñoz Jenifer, Ocaña Teresa, Balaguer Francesc, López-Cerón Maria, Cuatrecasas Miriam, Franch-Expósito Sebastià, Piqué Josep M, Castells Antoni, Carracedo Angel, Ruiz-Ponte Clara, Abulí Anna, Bessa Xavier, Andreu Montserrat, Bujanda Luis, Caldés Trinidad, Castellví-Bel Ser |
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Cell-specific effects in different immune subsets associated with SOCS1 genotypes in multiple sclerosis.
Multiple sclerosis (Houndmills, Basingstoke, England) 2015 Jan . Lopez de Lapuente Aitzkoa, Pinto-Medel María Jesús, Astobiza Ianire, Alloza Iraide, Comabella Manuel, Malhotra Sunny, Montalban Xavier, Zettl Uwe K, Rodríguez-Antigüedad Alfredo, Fernández Oscar, Vandenbroeck Ko |
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Gene mutation profiling of primary glioblastoma through multiple tumor biopsy guided by 1H-magnetic resonance spectroscopy.
International journal of clinical and experimental pathology 2015 8 (5): 5327-35. Tang Chao, Guo Jun, Chen Hong, Yao Cheng-Jun, Zhuang Dong-Xiao, Wang Yin, Tang Wei-Jun, Ren Guang, Yao Yu, Wu Jin-Song, Mao Ying, Zhou Liang- |
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Male-specific association of the APC rs383830 T allele with the risk of coronary heart disease.
Genetics and molecular research : GMR 2015 14 (4): 11745-51. Zhong J Y, Zheng X W, Ye H D, Cui H B, Du W P, Zhang Z X, Fei X H, Lin S Y, Wang J, Su J, Chen X M, Duan S |
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Predisposition to Childhood Otitis Media and Genetic Polymorphisms within the Toll-Like Receptor 4 (TLR4) Locus.
PloS one 2015 10 (7): e0132551. Hafrén Lena, Einarsdottir Elisabet, Kentala Erna, Hammarén-Malmi Sari, Bhutta Mahmood F, MacArthur Carol J, Wilmot Beth, Casselbrant Margaretha, Conley Yvette P, Weeks Daniel E, Mandel Ellen M, Vaarala Outi, Kallio Anna, Melin Merit, Nieminen Janne K, Leinonen Eira, Kere Juha, Mattila Petri |
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Targeted DNA Sequencing Detects Mutations Related to Susceptibility among Familial Non-medullary Thyroid Cancer.
Scientific reports 2015 5 16129. Yu Yang, Dong Li, Li Dapeng, Chuai Shaokun, Wu Zhigang, Zheng Xiangqian, Cheng Yanan, Han Lei, Yu Jinpu, Gao Mi |
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Erratum: Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer.
Genetics in medicine : official journal of the American College of Medical Genetics 2014 Dec 16 (12): 12. Authors are not available |
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Interferon regulatory factor 3 as key element of the interferon signature in plasmacytoid dendritic cells from systemic lupus erythematosus patients: novel genetic associations in the Mexican mestizo population.
Clinical and experimental immunology 2014 Dec 178 (3): 428-37. Santana-de Anda K, Gómez-Martín D, Monsivais-Urenda A E, Salgado-Bustamante M, González-Amaro R, Alcocer-Varela |
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A pilot study evaluating genetic alterations that drive tobacco- and betel quid-associated oral cancer in Northeast India.
Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine 2014 Sep 35 (9): 9317-30. Yadav Dhirendra Singh, Chattopadhyay Indranil, Verma Anand, Devi Thoudam Regina, Singh L C, Sharma Jagannath Dev, Kataki Amal Ch, Saxena Sunita, Kapur Suja |
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Association of CD209 and CD209L polymorphisms with tuberculosis infection in a Northeastern Brazilian population.
Molecular biology reports 2014 Aug 41 (8): 5449-57. da Silva Ronaldo Celerino, Segat Ludovica, da Cruz Heidi Lacerda Alves, Schindler Haiana Charifker, Montenegro Lilian Maria Lapa, Crovella Sergio, Guimarães Rafael Li |
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ERBB2 gene as a potential therapeutic target in small bowel adenocarcinoma.
European journal of cancer (Oxford, England : 1990) 2014 Jul 50 (10): 1740-6. Laforest Anais, Aparicio Thomas, Zaanan Aziz, Silva Fabio Pittella, Didelot Audrey, Desbeaux Aurélien, Le Corre Delphine, Benhaim Leonor, Pallier Karine, Aust Daniela, Pistorius Steffen, Blons Hélène, Svrcek Magali, Laurent-Puig Pier |
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Circulating dendritic cells of multiple sclerosis patients are proinflammatory and their frequency is correlated with MS-associated genetic risk factors.
Multiple sclerosis (Houndmills, Basingstoke, England) 2014 Apr 20 (5): 548-57. Thewissen Kristof, Nuyts Amber H, Deckx Nathalie, Van Wijmeersch Bart, Nagels Guy, D'hooghe Marie, Willekens Barbara, Cras Patrick, Eijnde Bert O, Goossens Herman, Van Tendeloo Viggo F I, Stinissen Piet, Berneman Zwi N, Hellings Niels, Cools Nathal |
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An analysis of polymorphisms within the Wnt signaling pathway in relation to ovarian cancer risk in a Polish population.
Molecular diagnosis & therapy 2014 Feb 18 (1): 85-91. Mostowska Adrianna, Pawlik Piotr, Sajdak Stefan, Markowska Janina, Pawa?owska Monika, Lianeri Margarita, Jagodzinski Pawe? |
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Genetic variants associated with colorectal cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence.
Gut 2014 Feb 63 (2): 326-36. Ma Xiangyu, Zhang Ben, Zheng W |
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Colorectal tumors from APC*I1307K carriers principally harbor somatic APC mutations outside the A8 tract.
PloS one 2014 9 (1): e84498. Zauber Peter, Bishop Timothy, Taylor Claire, Sabbath-Solitare Marlene, Marotta Stephen, Tomlinson I |
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The APC p.I1307K polymorphism is a significant risk factor for CRC in average risk Ashkenazi Jews.
European journal of cancer (Oxford, England : 1990) 2013 Nov 49 (17): 3680-5. Boursi Ben, Sella Tal, Liberman Eliezer, Shapira Shiran, David Maayan, Kazanov Diana, Arber Nadir, Kraus Sar |
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Exome resequencing identifies potential tumor-suppressor genes that predispose to colorectal cancer.
Human mutation 2013 Jul 34 (7): 1026-34. Smith Christopher G, Naven Marc, Harris Rebecca, Colley James, West Hannah, Li Ning, Liu Yuan, Adams Richard, Maughan Timothy S, Nichols Laura, Kaplan Richard, Wagner Michael J, McLeod Howard L, Cheadle Jeremy |
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Exome sequencing in diagnostic evaluation of colorectal cancer predisposition in young patients.
Scandinavian journal of gastroenterology 2013 Jun 48 (6): 672-8. Tanskanen Tomas, Gylfe Alexandra E, Katainen Riku, Taipale Minna, Renkonen-Sinisalo Laura, Mecklin Jukka-Pekka, Järvinen Heikki, Tuupanen Sari, Kilpivaara Outi, Vahteristo Pia, Aaltonen Lauri |
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The DC-SIGNR 7/5 genotype is associated with high dendritic cell counts and their subsets in patients infected with HIV-1.
Journal of clinical immunology 2013 May 33 (4): 788-97. Chaudhary Omkar, Bala Manju, Singh Jasbir, Hazarika Anjali, Kumar Rajesh, Luthra Kalpa |
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Novel mutations of the APC gene and genetic consequences of splicing mutations in the Czech FAP families.
Familial cancer 2013 Mar 12 (1): 35-42. Schwarzová Lucie, Štekrová Jitka, Florianová Martina, Novotný Aleš, Schneiderová Michaela, Ln?ni?ka Petr, Kebrdlová V?ra, Kotlas Jaroslav, Veselá Kamila, Kohoutová Mila |
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Influence of the vitamin D plasma level and vitamin D-related genetic polymorphisms on the immune status of patients with type 1 diabetes: a pilot study.
Clinical and experimental immunology 2013 Feb 171 (2): 2. Rose K, Penna-Martinez M, Klahold E, Kärger D, Shoghi F, Kahles H, Bayer M, Hintermann E, Pfeilschifter JM, Badenhoop K, Ramos-Lopez E, Christen U |
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Interleukin-17A genetic variants can confer resistance to brucellosis in Iranian population.
Cytokine 2013 Jan 61 (1): 297-303. Rasouli Manoochehr, Asaei Sadaf, Kalani Mehdi, Kiany Simin, Moravej A |
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MLH1-silenced and non-silenced subgroups of hypermutated colorectal carcinomas have distinct mutational landscapes.
The Journal of pathology 2013 Jan 229 (1): 99-110. Donehower Lawrence A, Creighton Chad J, Schultz Nikolaus, Shinbrot Eve, Chang Kyle, Gunaratne Preethi H, Muzny Donna, Sander Chris, Hamilton Stanley R, Gibbs Richard A, Wheeler Dav |
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CD86 gene variants and susceptibility to pancreatic cancer.
Journal of cancer research and clinical oncology 2012 Dec 138 (12): 2061-7. Xiang Honggang, Zhao Wei, Sun Yanping, Qian Winnie, Xing Junjie, Zhou Yujia, Yao Jun, Xu Jian, Wang Yi, Yao Houshan, Hu Zhiqi |
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Association between the CD209 promoter -336A/G polymorphism and susceptibility to tuberculosis: a meta-analysis.
Respirology (Carlton, Vic.) 2012 Jul 17 (5): 847-53. Miao Ruifen, Li Jiequan, Sun Zhaoping, Li Chen, Xu F |
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Association study of APC polymorphisms with colorectal cancer in Han Chinese.
Clinical biochemistry 2012 Jul . Huang X, Wang Y, Yu T, Liu B, Li X, Li W, Chen S, Zhao Q, Li X, Yang F, Wang Q, Wang J, Xiao Y, Xu Y, Feng G, Peng Z, He L, He G |
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The biological significance of TLR3 variant, L412F, in conferring susceptibility to cutaneous candidiasis, CMV and autoimmunity.
Autoimmunity reviews 2012 Mar 11 (5): 341-7. Nahum Amit, Dadi Harjit, Bates Andrea, Roifman Chaim |
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A rare polymorphism in the gene for Toll-like receptor 2 is associated with systemic sclerosis phenotype and increases the production of inflammatory mediators.
Arthritis and rheumatism 2012 Jan 64 (1): 264-71. Broen J C A, Bossini-Castillo L, van Bon L, Vonk M C, Knaapen H, Beretta L, Rueda B, Hesselstrand R, Herrick A, Worthington J, Hunzelman N, Denton C P, Fonseca C, Riemekasten G, Kiener H P, Scorza R, Simeón C P, Ortego-Centeno N, Gonzalez-Gay M A, Airò P, Coenen M J H, Martín J, Radstake T R D J, |
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Increased variance in germline allele-specific expression of APC associates with colorectal cancer.
Gastroenterology 2012 Jan 142 (1): 71-77.e1. Curia Maria Cristina, De Iure Sabrina, De Lellis Laura, Veschi Serena, Mammarella Sandra, White Marquitta J, Bartlett Jacquelaine, Di Iorio Angelo, Amatetti Cristina, Lombardo Marco, Di Gregorio Patrizia, Battista Pasquale, Mariani-Costantini Renato, Williams Scott M, Cama Alessand |
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Clinical and genetic characterization of classical forms of familial adenomatous polyposis: a Spanish population study.
Annals of oncology : official journal of the European Society for Medical Oncology / ESMO 2011 Apr 22 (4): 903-9. Rivera B, González S, Sánchez-Tomé E, Blanco I, Mercadillo F, Letón R, Benítez J, Robledo M, Capellá G, Urioste |
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Relationship between polymorphism of DC-SIGN (CD209) gene and the susceptibility to pulmonary tuberculosis in an eastern Chinese population.
Human immunology 2011 Feb 72 (2): 183-6. Zheng Ruijuan, Zhou Yan, Qin Lianhua, Jin Ruiliang, Wang Jie, Lu Junmei, Wang WeiBing, Tang Shenjie, Hu Zhong |
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Case-control study for colorectal cancer genetic susceptibility in EPICOLON: previously identified variants and mucins.
BMC cancer 2011 11 (1): 339. Abulí Anna, Fernández-Rozadilla Ceres, Alonso-Espinaco Virginia, Muñoz Jenifer, Gonzalo Victoria, Bessa Xavier, González Dolors, Clofent Joan, Cubiella Joaquin, Morillas Juan D, Rigau Joaquim, Latorre Mercedes, Fernández-Bañares Fernando, Peña Elena, Riestra Sabino, Payá Artemio, Jover Rodrigo, Xicola Rosa M, Llor Xavier, Carvajal-Carmona Luis, Villanueva Cristina M, Moreno Victor, Piqué Josep M, Carracedo Angel, Castells Antoni, Andreu Montserrat, Ruiz-Ponte Clara, Castellví-Bel Sergi, |
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DC-SIGN (CD209) Promoter -336 A/G polymorphism is associated with dengue hemorrhagic fever and correlated to DC-SIGN expression and immune augmentation.
PLoS neglected tropical diseases 2011 5 (1): e934. Wang Lin, Chen Rong-Fu, Liu Jien-Wei, Lee Ing-Kit, Lee Chiu-Ping, Kuo Ho-Chang, Huang Shau-Ku, Yang Kuender |
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Genetic variants of TSLP and asthma in an admixed urban population.
PloS one 2011 6 (9): e25099. Liu Mengling, Rogers Linda, Cheng Qinyi, Shao Yongzhao, Fernandez-Beros Maria Elena, Hirschhorn Joel N, Lyon Helen N, Gajdos Zofia K Z, Vedantam Sailaja, Gregersen Peter, Seldin Michael F, Bleck Bertram, Ramasamy Adaikalavan, Hartikainen Anna-Liisa, Jarvelin Marjo-Riitta, Kuokkanen Mikko, Laitinen Tarja, Eriksson Johan, Lehtimäki Terho, Raitakari Olli T, Reibman Jo |
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Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
Mutation research 2010 Dec 694 (1-2): 13-9. Flachsbart Friederike, Franke Andre, Kleindorp Rabea, Caliebe Amke, Blanché Hélène, Schreiber Stefan, Nebel Alm |
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MUTYH-associated polyposis - variability of the clinical phenotype in patients with biallelic and monoallelic MUTYH mutations and report on novel mutations.
Clinical genetics 2010 Oct 78 (4): 353-63. Morak M, Laner A, Bacher U, Keiling C, Holinski-Feder |
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Immunophenotype of vitamin D receptor polymorphism associated to risk of HIV-1 infection and rate of disease progression.
Current HIV research 2010 Sep 8 (6): 487-92. Torres Carmen, Sánchez de la Torre Manuel, García-Moruja Carelia, Carrero Antonio José, Trujillo María del Monte, Fibla Joan, Caruz Anton |
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CD86 +1057 G/A polymorphism and the risk of colorectal cancer.
DNA and cell biology 2010 Jul 29 (7): 381-6. Pan Xin-Min, Gao Lin-Bo, Liang Wei-Bo, Liu Yun, Zhu Yi, Tang Ming, Li Ying-Bi, Zhang L |
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Increased cancer predisposition in family members of colorectal cancer patients harboring the p.V600E BRAF mutation: a population-based study.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2010 Jul 19 (7): 1831-9. Wish Tyler A, Hyde Angela J, Parfrey Patrick S, Green Jane S, Younghusband H Banfield, Simms Michelle I, Fontaine Dan G, Dicks Elizabeth L, Stuckless Susan N, Gallinger Steven, McLaughlin John R, Woods Michael O, Green Roger |
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Mutation analysis of the APC gene in Taiwanese FAP families: low incidence of APC germline mutation in a distinct subgroup of FAP families.
Familial cancer 2010 Jun 9 (2): 117-24. Chiang J M, Chen H W, Tang R P, Chen J S, Changchien C R, Hsieh P S, Wang J |
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Common variants in human CRC genes as low-risk alleles.
European journal of cancer (Oxford, England : 1990) 2010 Apr 46 (6): 1041-8. Picelli Simone, Zajac Pawel, Zhou Xiao-Lei, Edler David, Lenander Claes, Dalén Johan, Hjern Fredrik, Lundqvist Nils, Lindforss Ulrik, Påhlman Lars, Smedh Kennet, Törnqvist Anders, Holm Jörn, Janson Martin, Andersson Magnus, Ekelund Susanne, Olsson Louise, Lundeberg Joakim, Lindblom Anni |
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Impact of group IVA cytosolic phospholipase A2 gene polymorphisms on phenotypic features of patients with familial adenomatous polyposis.
International journal of colorectal disease 2010 Mar 25 (3): 293-301. Umeno Junji, Matsumoto Takayuki, Esaki Motohiro, Kukita Yoji, Tahira Tomoko, Yanaru-Fujisawa Ritsuko, Nakamura Shotaro, Arima Hisatomi, Hirahashi Minako, Hayashi Kenshi, Iida Mits |
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Genetic susceptibility to distinct bladder cancer subphenotypes.
European urology 2010 Feb 57 (2): 283-92. Guey Lin T, García-Closas Montserrat, Murta-Nascimento Cristiane, Lloreta Josep, Palencia Laia, Kogevinas Manolis, Rothman Nathaniel, Vellalta Gemma, Calle M Luz, Marenne Gaëlle, Tardón Adonina, Carrato Alfredo, García-Closas Reina, Serra Consol, Silverman Debra T, Chanock Stephen, Real Francisco X, Malats Núria, |
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Association of mitotic regulation pathway polymorphisms with pancreatic cancer risk and outcome.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2010 Jan 19 (1): 1. Couch FJ, Wang X, Bamlet WR, de Andrade M, Petersen GM, McWilliams RR |
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Host single nucleotide polymorphisms of MMP-9 -1562/TIMP-1 372 have gender differences in the risk of gastric intestinal metaplasia after Helicobacter pylori infection.
Helicobacter 2009 Dec 14 (6): 580-7. Hung Kuei-Hsiang, Hung Hunt-Wen, Yang Hsiao-Bai, Lu Cheng-Chan, Wu Jiunn-Jong, Sheu Bor-Shya |
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PTEN identified as important risk factor of chronic obstructive pulmonary disease.
Respiratory medicine 2009 Dec 103 (12): 1866-70. Hosgood H Dean, Menashe Idan, He Xingzhou, Chanock Stephen, Lan Qi |
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[Genetic involvement of bacterial sensor molecules in Japanese leprosy].
Nihon Hansenby? Gakkai zasshi = Japanese journal of leprosy : official organ of the Japanese Leprosy Association 2009 Sep 78 (3): 255-61. Kanazawa Nobuo, Mikita Naoya, Li Hong-Jin, Nakatani Yumi, Ozaki Motoaki, Kosaka Maki, Ishii Norihisa, Nishimura Hiroyuki, Furukawa Fuku |
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Risk of colorectal neoplasia associated with the adenomatous polyposis coli E1317Q variant.
Annals of oncology : official journal of the European Society for Medical Oncology / ESMO 2009 Sep 20 (9): 1517-21. Hall M J, Liberman E, Dulkart O, Galazan L, Sagiv E, Shmueli E, Kazanov D, Hallak A, Moshkowitz M, Figer A, Kraus S, Inbar M, Neugut A I, Arber |
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Relative role of APC and MUTYH mutations in the pathogenesis of familial adenomatous polyposis.
Scandinavian journal of gastroenterology 2009 Jul . Pezzi A, Roncucci L, Benatti P, Sassatelli R, Varesco L, Di Gregorio C, Venesio T, Pedroni M, Maffei S, Reggiani Bonetti L, Borsi E, Ferrari M, Martella P, Rossi G, Ponz de Leon M |
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APC, MYH, and the correlation genotype-phenotype in colorectal polyposis.
Annals of surgical oncology 2009 Apr 16 (4): 871-7. Lefevre Jérémie H, Parc Yann, Svrcek Magali, Kernéis Solen, Colas Chrystelle, Shields Conor, Flejou Jean-François, Parc Rolland, Tiret Emmanu |
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Genetic mutations associated with cigarette smoking in pancreatic cancer.
Cancer research 2009 Apr 69 (8): 3681-8. Blackford Amanda, Parmigiani Giovanni, Kensler Thomas W, Wolfgang Christopher, Jones Siân, Zhang Xiaosong, Parsons D Willams, Lin Jimmy Cheng-Ho, Leary Rebecca J, Eshleman James R, Goggins Michael, Jaffee Elizabeth M, Iacobuzio-Donahue Christine A, Maitra Anirban, Klein Alison, Cameron John L, Olino Kelly, Schulick Richard, Winter Jordan, Vogelstein Bert, Velculescu Victor E, Kinzler Kenneth W, Hruban Ralph |
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Genome-wide association scan yields new insights into the immunopathogenesis of psoriasis.
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Colorectal carcinomas in MUTYH-associated polyposis display histopathological similarities to microsatellite unstable carcinomas.
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Hyperplastic polyps and sessile serrated adenomas as a phenotypic expression of MYH-associated polyposis.
Gastroenterology 2008 Dec 135 (6): 2014-8. Boparai Karam S, Dekker Evelien, Van Eeden Susanne, Polak Mirjam M, Bartelsman Joep F W M, Mathus-Vliegen Elisbeth M H, Keller Josbert J, van Noesel Carel J |
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Polymorphism in the IL18 gene and epithelial ovarian cancer in non-Hispanic white women.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2008 Dec 17 (12): 3567-72. Palmieri Rachel T, Wilson Melanie A, Iversen Edwin S, Clyde Merlise A, Calingaert Brian, Moorman Patricia G, Poole Charles, Anderson A Rebecca, Anderson Stephanie, Anton-Culver Hoda, Beesley Jonathan, Hogdall Estrid, Brewster Wendy, Carney Michael E, Chen Xiaoqing, Chenevix-Trench Georgia, Chang-Claude Jenny, Cunningham Julie M, Dicioccio Richard A, Doherty Jennifer A, Easton Douglas F, Edlund Christopher K, Gayther Simon A, Gentry-Maharaj Aleksandra, Goode Ellen L, Goodman Marc T, Kjaer Susanne Kruger, Hogdall Claus K, Hopkins Michael P, Jenison Eric L, Blaakaer Jan, Lurie Galina, McGuire Valerie, Menon Usha, Moysich Kirsten B, Ness Roberta B, Pearce Celeste Leigh, Pharoah Paul D P, Pike Malcolm C, Ramus Susan J, Rossing Mary Anne, Song Honglin, Terada Keith Y, Vandenberg David, Vierkant Robert A, Wang-Gohrke Shan, Webb Penelope M, Whittemore Alice S, Wu Anna H, Ziogas Argyrios, Berchuck Andrew, Schildkraut Joellen M, , , |
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Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway.
Carcinogenesis 2008 Oct 29 (10): 1938-43. Hosgood H Dean, Menashe Idan, Shen Min, Yeager Meredith, Yuenger Jeff, Rajaraman Preetha, He Xingzhou, Chatterjee Nilanjan, Caporaso Neil E, Zhu Yong, Chanock Stephen J, Zheng Tongzhang, Lan Qi |
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Modification of the associations between lifestyle, dietary factors and colorectal cancer risk by APC variants.
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HLA-G genotype and HLA-G expression in systemic lupus erythematosus: HLA-G as a putative susceptibility gene in systemic lupus erythematosus.
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A functional TNFRSF5 gene variant is associated with risk of lymphoma.
Blood 2008 Apr 111 (8): 4348-54. Skibola Christine F, Nieters Alexandra, Bracci Paige M, Curry John D, Agana Luz, Skibola Danica R, Hubbard Alan, Becker Nikolaus, Smith Martyn T, Holly Elizabeth |
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Investigation of promoter variations in dendritic cell-specific ICAM3-grabbing non-integrin (DC-SIGN) (CD209) and their relevance for human cytomegalovirus reactivation and disease after allogeneic stem-cell transplantation.
Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases 2008 Mar 14 (3): 228-34. Mezger M, Steffens M, Semmler C, Arlt E-M, Zimmer M, Kristjanson G-I, Wienker T F, Toliat M R, Kessler T, Einsele H, Loeffler |
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Multiple rare nonsynonymous variants in the adenomatous polyposis coli gene predispose to colorectal adenomas.
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Polymorphisms in the chemokine (C-X-C motif) ligand 10 are associated with invasive aspergillosis after allogeneic stem-cell transplantation and influence CXCL10 expression in monocyte-derived dendritic cells.
Blood 2008 Jan 111 (2): 534-6. Mezger Markus, Steffens Michael, Beyer Melanie, Manger Carolin, Eberle Johannes, Toliat Mohammad-Reza, Wienker Thomas F, Ljungman Per, Hebart Holger, Dornbusch Hans Jürgen, Einsele Hermann, Loeffler Juerg |
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Role of homozygous DC-SIGNR 5/5 tandem repeat polymorphism in HIV-1 exposed seronegative North Indian individuals.
Journal of clinical immunology 2008 Jan 28 (1): 50-7. Rathore Anurag, Chatterjee Animesh, Sivarama P, Yamamoto Naohiko, Dhole Tapan |
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Promoter and neck region length variation of DC-SIGN is not associated with susceptibility to tuberculosis in Tunisian patients.
Human immunology 2007 Nov 68 (11): 908-12. Ben-Ali Meriem, Barreiro Luis B, Chabbou Abdellatif, Haltiti Raja, Braham Ezzeddine, Neyrolles Olivier, Dellagi Koussay, Gicquel Brigitte, Quintana-Murci Lluis, Barbouche Mohamed-Rid |
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How the I1307K adenomatous polyposis coli gene variant contributes in the assessment of risk of colorectal cancer, but not stomach cancer, in a Turkish population.
Cancer genetics and cytogenetics 2007 Sep 177 (2): 95-7. Dundar Munis, Caglayan Ahmet Okay, Saatci Cetin, Karaca Hatice, Baskol Mevlut, Tahiri Serpil, Ozkul Yus |
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A promoter nucleotide variant of the dendritic cell-specific DCNP1 associates with serum IgE levels specific for dust mite allergens among the Korean asthmatics.
Genes and immunity 2007 Jul 8 (5): 369-78. Kim Y, Park C-S, Shin H D, Choi J-W, Cheong H S, Park B L, Choi Y H, Jang A S, Park S W, Lee Y M, Lee E J, Park S G, Lee J-Y, Lee J-K, Han B G, Oh B, Kimm |
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Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis.
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The polymorphisms in DC-SIGNR affect susceptibility to HIV type 1 infection.
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Genotype-phenotype correlations as a guide in the management of familial adenomatous polyposis.
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