HuGE Literature Finder
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Records 1-100
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Replication of Newly Identified Genetic Associations Between Abdominal Aortic Aneurysm and SMYD2, LINC00540, PCIF1/MMP9/ZNF335, and ERG.
European journal of vascular and endovascular surgery : the official journal of the European Society for Vascular Surgery 2019 Oct . Tang Weihong, Saratzis Athanasios, Pattee Jack, Smith Jacqueline, Pankratz Nathan, Leavy Olivia C, Guan Weihua, Dudbridge Frank, Pankow James S, Kitas George D, Lutsey Pamela L, Bown Matthew |
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Association of imputed prostate cancer transcriptome with disease risk reveals novel mechanisms.
Nature communications 2019 Jul 10 (1): 3107. Emami Nima C, Kachuri Linda, Meyers Travis J, Das Rajdeep, Hoffman Joshua D, Hoffmann Thomas J, Hu Donglei, Shan Jun, Feng Felix Y, Ziv Elad, Van Den Eeden Stephen K, Witte John |
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Combining gene mutation with gene expression analysis improves outcomes prediction in acute promyelocytic leukemia.
Blood 2019 Jul . Lucena-Araujo Antonio R, Coelho-Silva Juan L, Pereira-Martins Diego A, Silveira Douglas R, Koury Luisa Corrêa de Araujo, Melo Raul A M, Bittencourt Rosane, Pagnano Katia, Pasquini Ricardo, Nunes Elenaide C, Fagundes Evandro M, Gloria Ana B, Kerbauy Fabio R, Chauffaille Maria de Lourdes, Bendit Israel, Rocha Vanderson, Keating Armand, Tallman Martin S, Ribeiro Raul C, Dillon Richard, Ganser Arnold, Löwenberg Bob, Valk Peter, Lo Coco Francesco, Sanz Miguel A, Berliner Nancy, Rego Eduardo |
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Association of SHMT1, MAZ, ERG, and L3MBTL3 Gene Polymorphisms with Susceptibility to Multiple Sclerosis.
Biochemical genetics 2019 Jun 57 (3): 355-370. Nazari Mehrabani Seyede Zahra, Shushizadeh Mohammad Hossein, Abazari Mohammad Foad, Nouri Aleagha Maryam, Ardalan Abbas, Abdollahzadeh Rasoul, Azarnezhad Asa |
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Novel susceptibility variants at the
Blood 2019 Feb 133 (7): 724-729. Qian Maoxiang, Xu Heng, Perez-Andreu Virginia, Roberts Kathryn G, Zhang Hui, Yang Wenjian, Zhang Shouyue, Zhao Xujie, Smith Colton, Devidas Meenakshi, Gastier-Foster Julie M, Raetz Elizabeth, Larsen Eric, Burchard Esteban G, Winick Naomi, Bowman W Paul, Martin Paul L, Borowitz Michael, Wood Brent, Antillon-Klussmann Federico, Pui Ching-Hon, Mullighan Charles G, Evans William E, Hunger Stephen P, Relling Mary V, Loh Mignon L, Yang Jun |
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CFH Y402H polymorphism in Italian patients with age-related macular degeneration, retinitis pigmentosa, and Stargardt disease.
Ophthalmic genetics 2018 Oct 1-7. Sodi Andrea, Passerini Ilaria, Bacherini Daniela, Boni Luca, Palchetti Simona, Murro Vittoria, Caporossi Orsola, Mucciolo Dario Pasquale, Franco Fabrizio, Vannozzi Lorenzo, Torricelli Francesca, Pelo Elisabetta, Rizzo Stanislao, Virgili Gian |
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SPOP mutated/ CHD1 deleted lethal prostate cancer and abiraterone sensitivity.
Clinical cancer research : an official journal of the American Association for Cancer Research 2018 Aug . Boysen Gunther, Nava Rodrigues Daniel, Rescigno Pasquale, Seed George, Dolling David I, Riisnaes Ruth, Crespo Mateus, Zafeiriou Zafeiris, Sumanasuriya Semini, Bianchini Diletta, Hunt Joanne, Moloney Deirdre, Perez-Lopez Raquel, Tunariu Nina, Miranda Susana, Figueiredo Ines, Ferreira Ana, Christova Rossitza, Gil Veronica, Aziz Sara, Bertan Claudia, de Oliveira Flavia M, Atkin Mark, Clarke Matthew, Goodall Jane, Sharp Adam, MacDonald Theresa Y, Rubin Mark A, Yuan Wei, Barbieri Christopher E, Carreira Suzanne, Mateo Joaquin, de Bono Johann |
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Clinical and Genetic Characteristics Analysis of Korean Patients with Stargardt Disease Using Targeted Exome Sequencing.
Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde 2018 Jul 1-11. Sung Youngje, Choi Seung Woo, Shim Sung Han, Song Won Kyu |
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Correlating the Expression and Functional Activity of ABCA4 Disease Variants With the Phenotype of Patients With Stargardt Disease.
Investigative ophthalmology & visual science 2018 May 59 (6): 2305-2315. Garces Fabian, Jiang Kailun, Molday Laurie L, Stöhr Heidi, Weber Bernhard H, Lyons Christopher J, Maberley David, Molday Robert |
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BAALC and ERG expression levels at diagnosis have no prognosis impact on acute myeloid leukemia patients undergoing allogeneic hematopoietic stem cell transplantation.
Annals of hematology 2018 Apr . Zhang Jilei, Shi Jinlong, Zhang Gaoqi, Zhang Xinpei, Yang Xinrui, Yang Siyuan, Wang Jing, Ke Xiaoyan, Fu L |
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Common variants in the hERG (KCNH2) voltage-gated potassium channel are associated with altered fasting and glucose-stimulated plasma incretin and glucagon responses.
BMC genetics 2018 Mar 19 (1): 15. Engelbrechtsen Line, Mahendran Yuvaraj, Jonsson Anna, Gjesing Anette Prior, Weeke Peter E, Jørgensen Marit E, Færch Kristine, Witte Daniel R, Holst Jens J, Jørgensen Torben, Grarup Niels, Pedersen Oluf, Vestergaard Henrik, Torekov Signe, Kanters Jørgen K, Hansen Torb |
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Association between TMPRSS2:ERG fusion gene and the prostate cancer: systematic review and meta-analysis.
Central European journal of urology 2018 71 (4): 410-419. García-Perdomo Herney Andrés, Chaves Maria Juliana, Osorio Julio Cesar, Sanchez Adalber |
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Whole-genome and Transcriptome Sequencing of Prostate Cancer Identify New Genetic Alterations Driving Disease Progression.
European urology 2017 Sep . Ren Shancheng, Wei Gong-Hong, Liu Dongbing, Wang Liguo, Hou Yong, Zhu Shida, Peng Lihua, Zhang Qin, Cheng Yanbing, Su Hong, Zhou Xiuqing, Zhang Jibin, Li Fuqiang, Zheng Hancheng, Zhao Zhikun, Yin Changjun, He Zengquan, Gao Xin, Zhau Haiyen E, Chu Chia-Yi, Wu Jason Boyang, Collins Colin, Volik Stanislav V, Bell Robert, Huang Jiaoti, Wu Kui, Xu Danfeng, Ye Dingwei, Yu Yongwei, Zhu Lianhui, Qiao Meng, Lee Hang-Mao, Yang Yuehong, Zhu Yasheng, Shi Xiaolei, Chen Rui, Wang Yang, Xu Weidong, Cheng Yanqiong, Xu Chuanliang, Gao Xu, Zhou Tie, Yang Bo, Hou Jianguo, Liu Li, Zhang Zhensheng, Zhu Yao, Qin Chao, Shao Pengfei, Pang Jun, Chung Leland W K, Xu Jianfeng, Wu Chin-Lee, Zhong Weide, Xu Xun, Li Yingrui, Zhang Xiuqing, Wang Jian, Yang Huanming, Wang Jun, Huang Haojie, Sun Yingh |
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Genotypic spectrum and phenotype correlations of ABCA4-associated disease in patients of south Asian descent.
European journal of human genetics : EJHG 2017 Mar . Lee Winston, Schuerch Kaspar, Zernant Jana, Collison Frederick T, Bearelly Srilaxmi, Fishman Gerald A, Tsang Stephen H, Sparrow Janet R, Allikmets Ran |
Meta-Analysis of Genome-Wide Association Studies for Abdominal Aortic Aneurysm Identifies Four New Disease-Specific Risk Loci.
Circulation research 2017 Jan 120 (2): 341-353. Jones Gregory T, Tromp Gerard, Kuivaniemi Helena, Gretarsdottir Solveig, Baas Annette F, Giusti Betti, Strauss Ewa, Van't Hof Femke N G, Webb Thomas R, Erdman Robert, Ritchie Marylyn D, Elmore James R, Verma Anurag, Pendergrass Sarah, Kullo Iftikhar J, Ye Zi, Peissig Peggy L, Gottesman Omri, Verma Shefali S, Malinowski Jennifer, Rasmussen-Torvik Laura J, Borthwick Kenneth M, Smelser Diane T, Crosslin David R, de Andrade Mariza, Ryer Evan J, McCarty Catherine A, Böttinger Erwin P, Pacheco Jennifer A, Crawford Dana C, Carrell David S, Gerhard Glenn S, Franklin David P, Carey David J, Phillips Victoria L, Williams Michael J A, Wei Wenhua, Blair Ross, Hill Andrew A, Vasudevan Thodor M, Lewis David R, Thomson Ian A, Krysa Jo, Hill Geraldine B, Roake Justin, Merriman Tony R, Oszkinis Grzegorz, Galora Silvia, Saracini Claudia, Abbate Rosanna, Pulli Raffaele, Pratesi Carlo, Saratzis Athanasios, Verissimo Ana R, Bumpstead Suzannah, Badger Stephen A, Clough Rachel E, Cockerill Gillian, Hafez Hany, Scott D Julian A, Futers T Simon, Romaine Simon P R, Bridge Katherine, Griffin Kathryn J, Bailey Marc A, Smith Alberto, Thompson Matthew M, van Bockxmeer Frank M, Matthiasson Stefan E, Thorleifsson Gudmar, Thorsteinsdottir Unnur, Blankensteijn Jan D, Teijink Joep A W, Wijmenga Cisca, de Graaf Jacqueline, Kiemeney Lambertus A, Lindholt Jes S, Hughes Anne, Bradley Declan T, Stirrups Kathleen, Golledge Jonathan, Norman Paul E, Powell Janet T, Humphries Steve E, Hamby Stephen E, Goodall Alison H, Nelson Christopher P, Sakalihasan Natzi, Courtois Audrey, Ferrell Robert E, Eriksson Per, Folkersen Lasse, Franco-Cereceda Anders, Eicher John D, Johnson Andrew D, Betsholtz Christer, Ruusalepp Arno, Franzén Oscar, Schadt Eric E, Björkegren Johan L M, Lipovich Leonard, Drolet Anne M, Verhoeven Eric L, Zeebregts Clark J, Geelkerken Robert H, van Sambeek Marc R, van Sterkenburg Steven M, de Vries Jean-Paul, Stefansson Kari, Thompson John R, de Bakker Paul I W, Deloukas Panos, Sayers Robert D, Harrison Seamus C, van Rij Andre M, Samani Nilesh J, Bown Matthew |
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Clinical and genetic characteristics of Leber congenital amaurosis with novel mutations in known genes based on a Chinese eastern coast Han population.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 2016 Nov 254 (11): 2227-2238. Wang Shiyuan, Zhang Qi, Zhang Xiang, Wang Zhaoyang, Zhao Peiqu |
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Prostate cancer risk regions at 8q24 and 17q24 are differentially associated with somatic TMPRSS2:ERG fusion status.
Human molecular genetics 2016 Oct . Luedeke Manuel, Rinckleb Antje E, FitzGerald Liesel M, Geybels Milan S, Schleutker Johanna, Eeles Rosalind A, Teixeira Manuel R, Cannon-Albright Lisa, Ostrander Elaine A, Weikert Steffen, Herkommer Kathleen, Wahlfors Tiina, Visakorpi Tapio, Leinonen Katri A, Tammela Teuvo L J, Cooper Colin S, Kote-Jarai Zsofia, Edwards Sandra, Goh Chee L, McCarthy Frank, Parker Chris, Flohr Penny, Paulo Paula, Jerónimo Carmen, Henrique Rui, Krause Hans, Wach Sven, Lieb Verena, Rau Tilman T, Vogel Walther, Kuefer Rainer, Hofer Matthias D, Perner Sven, Rubin Mark A, Agarwal Archana M, Easton Doug F, Al Olama Ali Amin, Benlloch Sara, , Hoegel Josef, Stanford Janet L, Maier Christia |
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p16 upregulation is linked to poor prognosis in ERG negative prostate cancer.
Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine 2016 Sep 37 (9): 12655-12663. Burdelski Christoph, Dieckmann Tatsiana, Heumann Asmus, Hube-Magg Claudia, Kluth Martina, Beyer Burkhard, Steuber Thomas, Pompe Raisa, Graefen Markus, Simon Ronald, Minner Sarah, Tsourlakis Maria Christina, Koop Christina, Izbicki Jakob, Sauter Guido, Krech Till, Schlomm Thorsten, Wilczak Waldemar, Lebok Patri |
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Phenotype and Progression of Retinal Degeneration Associated With Nullizigosity of ABCA4.
Investigative ophthalmology & visual science 2016 Sep 57 (11): 4668-78. Fakin Ana, Robson Anthony G, Fujinami Kaoru, Moore Anthony T, Michaelides Michel, Pei-Wen Chiang John, E Holder Graham, Webster Andrew |
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Bilateral Symmetry of Visual Function Loss in Cone-Rod Dystrophies.
Investigative ophthalmology & visual science 2016 Jul 57 (8): 3759-68. Galli-Resta Lucia, Falsini Benedetto, Rossi Giuseppe, Piccardi Marco, Ziccardi Lucia, Fadda Antonello, Minnella Angelo, Marangoni Dario, Placidi Giorgio, Campagna Francesca, Abed Edoardo, Bertelli Matteo, Zuntini Monia, Resta Giovan |
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LONG-TERM FOLLOW-UP OF PATIENTS WITH RETINITIS PIGMENTOSA TYPE 12 CAUSED BY CRB1 MUTATIONS: A Severe Phenotype With Considerable Interindividual Variability.
Retina (Philadelphia, Pa.) 2016 Jul . Mathijssen Inge B, Florijn Ralph J, van den Born L Ingeborgh, Zekveld-Vroon Renate C, Ten Brink Jacoline B, Plomp Astrid S, Baas Frank, Meijers-Heijboer Hanne, Bergen Arthur A B, van Schooneveld Mary |
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Mutation screening of the LRIT3, CABP4, and GPR179 genes in Chinese patients with Schubert-Bornschein congenital stationary night blindness.
Ophthalmic genetics 2016 Jul 1-5. Dan Handong, Song Xiusheng, Li Jiazhang, Xing Yiqiao, Li T |
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Efavirenz inhibits the human ether-a-go-go related current (hERG) and induces QT interval prolongation in CYP2B6*6*6 allele carriers.
Journal of cardiovascular electrophysiology 2016 Jun . Abdelhady Ahmed M, Shugg Tyler, Thong Nancy, Lu Jessica Bo Li, Kreutz Yvonne, Jaynes Heather A, Robarge Jason D, Tisdale James E, Desta Zeruesenay, Overholser Brian |
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Novel multiple sclerosis susceptibility loci implicated in epigenetic regulation.
Science advances 2016 Jun 2 (6): e1501678. Andlauer Till F M, Buck Dorothea, Antony Gisela, Bayas Antonios, Bechmann Lukas, Berthele Achim, Chan Andrew, Gasperi Christiane, Gold Ralf, Graetz Christiane, Haas Jürgen, Hecker Michael, Infante-Duarte Carmen, Knop Matthias, Kümpfel Tania, Limmroth Volker, Linker Ralf A, Loleit Verena, Luessi Felix, Meuth Sven G, Mühlau Mark, Nischwitz Sandra, Paul Friedemann, Pütz Michael, Ruck Tobias, Salmen Anke, Stangel Martin, Stellmann Jan-Patrick, Stürner Klarissa H, Tackenberg Björn, Then Bergh Florian, Tumani Hayrettin, Warnke Clemens, Weber Frank, Wiendl Heinz, Wildemann Brigitte, Zettl Uwe K, Ziemann Ulf, Zipp Frauke, Arloth Janine, Weber Peter, Radivojkov-Blagojevic Milena, Scheinhardt Markus O, Dankowski Theresa, Bettecken Thomas, Lichtner Peter, Czamara Darina, Carrillo-Roa Tania, Binder Elisabeth B, Berger Klaus, Bertram Lars, Franke Andre, Gieger Christian, Herms Stefan, Homuth Georg, Ising Marcus, Jöckel Karl-Heinz, Kacprowski Tim, Kloiber Stefan, Laudes Matthias, Lieb Wolfgang, Lill Christina M, Lucae Susanne, Meitinger Thomas, Moebus Susanne, Müller-Nurasyid Martina, Nöthen Markus M, Petersmann Astrid, Rawal Rajesh, Schminke Ulf, Strauch Konstantin, Völzke Henry, Waldenberger Melanie, Wellmann Jürgen, Porcu Eleonora, Mulas Antonella, Pitzalis Maristella, Sidore Carlo, Zara Ilenia, Cucca Francesco, Zoledziewska Magdalena, Ziegler Andreas, Hemmer Bernhard, Müller-Myhsok Bertr |
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Novel BEST1 Mutations and Special Clinical Features of Best Vitelliform Macular Dystrophy.
Ophthalmic research 2016 Apr . Liu Jingshu, Zhang Yongjin, Xuan Yi, Liu Wei, Wang M |
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Association of prostate cancer risk variants with TMPRSS2:ERG status: evidence for distinct molecular subtypes.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2016 Mar . Penney Kathryn L, Pettersson Andreas, Shui Irene M, Graff Rebecca E, Kraft Peter, Lis Rosina T, Sesso Howard D, Loda Massimo, Mucci Lorelei |
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Efficacy of Column Scatter Plots for Presenting Retinitis Pigmentosa Phenotypes in a Japanese Cohort.
Translational vision science & technology 2016 Mar 5 (2): 4. Ogino Ken, Oishi Akio, Oishi Maho, Gotoh Norimoto, Morooka Satoshi, Sugahara Masako, Hasegawa Tomoko, Miyata Manabu, Yoshimura Nagahi |
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Mutational landscape of aggressive prostate tumors in African American men.
Cancer research 2016 Feb . Lindquist Karla J, Paris Pamela L, Hoffmann Thomas J, Cardin Niall J, Kazma Remi, Mefford Joel A, Simko Jeffrey P, Ngo Vy, Chen Yalei, Levin Albert M, Chitale Dhananjay, Helfand Brian T, Catalona William J, Rybicki Benjamin A, Witte John |
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Ophthalmological characteristics in children with Leigh syndrome - A long-term follow-up.
Acta ophthalmologica 2016 Feb . Åkebrand Rebecka, Andersson Susann, Seyedi Honarvar Antovan K, Sofou Kalliopi, Darin Niklas, Tulinius Mar, Grönlund Marita Anderss |
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Recurrent CIC Gene Abnormalities in Angiosarcomas: A Molecular Study of 120 Cases With Concurrent Investigation of PLCG1, KDR, MYC, and FLT4 Gene Alterations.
The American journal of surgical pathology 2016 Jan . Huang Shih-Chiang, Zhang Lei, Sung Yun-Shao, Chen Chun-Liang, Kao Yu-Chien, Agaram Narasimhan P, Singer Samuel, Tap William D, D'Angelo Sandra, Antonescu Cristina |
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Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel Mutations.
Investigative ophthalmology & visual science 2016 Jan 57 (1): 145-52. Jiang Feng, Pan Zhe, Xu Ke, Tian Lu, Xie Yue, Zhang Xiaohui, Chen Jieqiong, Dong Bing, Li Ya |
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A novel genomic alteration of LSAMP associates with aggressive prostate cancer in African American men.
EBioMedicine 2015 Dec 2 (12): 1957-64. Petrovics Gyorgy, Li Hua, Stümpel Tanja, Tan Shyh-Han, Young Denise, Katta Shilpa, Li Qiyuan, Ying Kai, Klocke Bernward, Ravindranath Lakshmi, Kohaar Indu, Chen Yongmei, Ribli Dezs?, Grote Korbinian, Zou Hua, Cheng Joseph, Dalgard Clifton L, Zhang Shimin, Csabai István, Kagan Jacob, Takeda David, Loda Massimo, Srivastava Sudhir, Scherf Matthias, Seifert Martin, Gaiser Timo, McLeod David G, Szallasi Zoltan, Ebner Reinhard, Werner Thomas, Sesterhenn Isabell A, Freedman Matthew, Dobi Albert, Srivastava Sh |
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Genotype and Phenotype Studies in Autosomal Dominant Retinitis Pigmentosa (adRP) of the French Canadian Founder Population.
Investigative ophthalmology & visual science 2015 Dec 56 (13): 8297-305. Coussa Razek Georges, Chakarova Christina, Ajlan Radwan, Taha Mohammed, Kavalec Conrad, Gomolin Julius, Khan Ayesha, Lopez Irma, Ren Huanan, Waseem Naushin, Kamenarova Kunka, Bhattacharya Shomi S, Koenekoop Robert |
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GUCY2D mutations in a Chinese cohort with autosomal dominant cone or cone-rod dystrophies.
Documenta ophthalmologica. Advances in ophthalmology 2015 Oct 131 (2): 105-14. Jiang Feng, Xu Ke, Zhang Xiaohui, Xie Yue, Bai Fengge, Li Ya |
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Increased androgen receptor gene copy number is associated with TMPRSS2-ERG rearrangement in prostatic small cell carcinoma.
Molecular carcinogenesis 2015 Sep 54 (9): 900-7. Wang Lisha, Williamson Sean R, Zhang Shaobo, Huang Jiaoti, Montironi Rodolfo, Davison Darrell D, Wang Mingsheng, Yao Jorge L, Lopez-Beltran Antonio, Osunkoya Adeboye O, MacLennan Gregory T, Baldridge Lee Ann, Du Xiang, Cheng Lia |
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Molecular and Clinicopathological Aspects of Prostate Cancer in Bulgarian Probands.
Pathology oncology research : POR 2015 Sep 21 (4): 969-76. Tsvetkova Anita, Todorova Albena, Todorov Tihomir, Georgiev Georgi, Drandarska Ivanka, Mitev Van |
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Molecular profiling of ETS and non-ETS aberrations in prostate cancer patients from northern India.
The Prostate 2015 Jul 75 (10): 1051-62. Ateeq Bushra, Kunju Lakshmi P, Carskadon Shannon L, Pandey Swaroop K, Singh Geetika, Pradeep Immanuel, Tandon Vini, Singhai Atin, Goel Apul, Amit Sonal, Agarwal Asha, Dinda Amit K, Seth Amlesh, Tsodikov Alexander, Chinnaiyan Arul M, Palanisamy Nallasiv |
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Systematic enrichment analysis of potentially functional regions for 103 prostate cancer risk-associated loci.
The Prostate 2015 Jul 75 (12): 1264-76. Chen Haitao, Yu Hongjie, Wang Jianqing, Zhang Zheng, Gao Zhengrong, Chen Zhuo, Lu Yulan, Liu Wennuan, Jiang Deke, Zheng S Lilly, Wei Gong-Hong, Issacs William B, Feng Junjie, Xu Jianfe |
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hERG potassium channel blockade by the HCN channel inhibitor bradycardic agent ivabradine.
Journal of the American Heart Association 2015 Apr 4 (4): . Melgari Dario, Brack Kieran E, Zhang Chuan, Zhang Yihong, El Harchi Aziza, Mitcheson John S, Dempsey Christopher E, Ng G André, Hancox Jules |
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Novel CNGA3 mutations in Chinese patients with achromatopsia.
The British journal of ophthalmology 2015 Apr 99 (4): 571-6. Liang Xiaofang, Dong Fangtian, Li Hui, Li Huajin, Yang Lizhu, Sui Ruifa |
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Role of mutation and pharmacologic block of human KCNH2 in vasculogenesis and fetal mortality: partial rescue by transforming growth factor-?.
Circulation. Arrhythmia and electrophysiology 2015 Apr 8 (2): 420-8. Teng Guoqi, Zhao Xiang, Lees-Miller James P, Belke Darrell, Shi Chunhua, Chen Yongxiang, O'Brien Edward R, Fedak Paul W, Bracey Nathan, Cross James C, Duff Henry |
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Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa.
JAMA ophthalmology 2015 Mar 133 (3): 312-8. Shevach Elia, Ali Manir, Mizrahi-Meissonnier Liliana, McKibbin Martin, El-Asrag Mohammed, Watson Christopher M, Inglehearn Chris F, Ben-Yosef Tamar, Blumenfeld Anat, Jalas Chaim, Banin Eyal, Sharon Dr |
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De novo mutations in the cone-rod homeobox gene associated with leber congenital amaurosis in Chinese patients.
Ophthalmic genetics 2015 Mar 36 (1): 21-6. Zou Xuan, Yao Fengxia, Liang Xiaofang, Xu Fei, Li Hui, Sui Ruifang, Dong Fangti |
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Local production of the alternative pathway component factor B is sufficient to promote laser-induced choroidal neovascularization.
Investigative ophthalmology & visual science 2015 Mar 56 (3): 1850-63. Schnabolk Gloriane, Coughlin Beth, Joseph Kusumam, Kunchithapautham Kannan, Bandyopadhyay Mausumi, O'Quinn Elizabeth C, Nowling Tamara, Rohrer Bärb |
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Mutation detection in formalin-fixed prostate cancer biopsies taken at the time of diagnosis using next-generation DNA sequencing.
Journal of clinical pathology 2015 Mar 68 (3): 212-7. Manson-Bahr David, Ball Richard, Gundem Gunes, Sethia Krishna, Mills Robert, Rochester Mark, Goody Victoria, Anderson Elizabeth, O'Meara Sarah, Flather Marcus, Keeling Matthew, Yazbek-Hanna Marcelino, Hurst Rachel, Curley Helen, Clark Jeremy, Brewer Daniel S, McDermott Ultan, Cooper Col |
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The Prognostic Relevance of BAALC and ERG Expression Levels in Cytogenetically Normal Pediatric Acute Myeloid Leukemia.
Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion 2015 Mar 31 (1): 21-8. Aref Salah, Al Khodary Tawfik, Zeed Tarek Abou, El Sadiek Amre, El Menshawy Nadia, Al Ashery Ras |
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Clinical aspects of Usher syndrome and the USH2A gene in a cohort of 433 patients.
JAMA ophthalmology 2015 Feb 133 (2): 157-64. Blanco-Kelly Fiona, Jaijo Teresa, Aller Elena, Avila-Fernandez Almudena, López-Molina María Isabel, Giménez Ascensión, García-Sandoval Blanca, Millán José M, Ayuso Carm |
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Early-onset stargardt disease: phenotypic and genotypic characteristics.
Ophthalmology 2015 Feb 122 (2): 335-44. Lambertus Stanley, van Huet Ramon A C, Bax Nathalie M, Hoefsloot Lies H, Cremers Frans P M, Boon Camiel J F, Klevering B Jeroen, Hoyng Carel |
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Novel GUCY2D Gene Mutations in Japanese Male Twins with Leber Congenital Amaurosis.
Journal of ophthalmology 2015 2015 693468. Hosono Katsuhiro, Harada Yuko, Kurata Kentaro, Hikoya Akiko, Sato Miho, Minoshima Shinsei, Hotta Yoshihi |
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Prognostic and predictive molecular biological markers in prostate cancer - significance of expression of genes PCA3 and TMPRSS2.
Neoplasma 2015 62 (1): 114-8. Soumarova R, Boday A, Krhutova V, Janotova A, Dvorakova M, Jaluvkova E, Stursa M, Perkova |
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Reduced macular function in ABCA4 carriers.
Molecular vision 2015 21 767-82. Kjellström Ulri |
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Whole-exome sequencing implicates UBE3D in age-related macular degeneration in East Asian populations.
Nature communications 2015 6 6687. Huang Lv-Zhen, Li Ying-Jie, Xie Xue-Feng, Zhang Jing-Jing, Cheng Ching-Yu, Yamashiro Kenji, Chen Li-Jia, Ma Xiao-Yun, Cheung Chui Ming G, Wang Yu-Sheng, Zhang Chun-Fang, Bai Yu-Jing, Hou Jing, Chen Xiao-Li, Qi Yun, Li Shan-Shan, Sun Yao-Yao, Mei Jun-Pu, Cheng Yong, Yu Wen-Zhen, Hu Xiong-Bing, Zhuang Feng-Feng, Fan Lei, Lu Yi, Sun Xing-Huai, Zhu Xiang-Jia, Shen De-Fen, Chan Chi-Chao, Zhao Ming-Wei, Yoshimura Nagahisa, Pang Chi Pui, Wong Tien Yin, Khor Chiea Chuen, Zhang Kang, Zhou Peng, Li Xiao-X |
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Androgen receptor CAG repeat polymorphism and risk of TMPRSS2:ERG-positive prostate cancer.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2014 Oct 23 (10): 2027-31. Yoo Sun, Pettersson Andreas, Jordahl Kristina M, Lis Rosina T, Lindstrom Sara, Meisner Allison, Nuttall Elizabeth J, Stack Edward C, Stampfer Meir J, Kraft Peter, Brown Myles, Loda Massimo, Giovannucci Edward L, Kantoff Philip W, Mucci Lorelei |
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Genetic and clinical analysis of ABCA4-associated disease in African American patients.
Human mutation 2014 Oct 35 (10): 1187-94. Zernant Jana, Collison Frederick T, Lee Winston, Fishman Gerald A, Noupuu Kalev, Yuan Bo, Cai Carolyn, Lupski James R, Yannuzzi Lawrence A, Tsang Stephen H, Allikmets Ran |
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Plasma homocysteine concentrations in acute and convalescent changes of central retinal vein occlusion in a Chinese population.
Investigative ophthalmology & visual science 2014 Jul 55 (7): 4057-62. Dong Ning, Xu Bing, Tang X |
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Identification of a novel germline SPOP mutation in a family with hereditary prostate cancer.
The Prostate 2014 Jun 74 (9): 983-90. Zuhlke Kimberly A, Johnson Anna M, Tomlins Scott A, Palanisamy Nallasivam, Carpten John D, Lange Ethan M, Isaacs William B, Cooney Kathleen |
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Predictors of visual acuity and genotype-phenotype correlates in a cohort of patients with Stargardt disease.
The British journal of ophthalmology 2014 Apr 98 (4): 513-8. Miraldi Utz Virginia, Coussa Razek Georges, Marino Meghan J, Chappelow Aimee V, Pauer Gayle J, Hagstrom Stephanie A, Traboulsi Elias |
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Evaluation of the TMPRSS2:ERG fusion for the detection of prostate cancer: a systematic review and meta-analysis.
Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine 2014 Mar 35 (3): 2157-66. Yao Yanhong, Wang Haitao, Li BaoGuo, Tang Yo |
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Genetic profiling to determine risk of relapse-free survival in high-risk localized prostate cancer.
Clinical cancer research : an official journal of the American Association for Cancer Research 2014 Mar 20 (5): 1306-12. Barnett Christine M, Heinrich Michael C, Lim Jeong, Nelson Dylan, Beadling Carol, Warrick Andrea, Neff Tanaya, Higano Celestia S, Garzotto Mark, Qian David, Corless Christopher L, Thomas George V, Beer Tomasz |
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SPOP mutations in prostate cancer across demographically diverse patient cohorts.
Neoplasia (New York, N.Y.) 2014 Jan 16 (1): 14-20. Blattner Mirjam, Lee Daniel J, O'Reilly Catherine, Park Kyung, MacDonald Theresa Y, Khani Francesca, Turner Kevin R, Chiu Ya-Lin, Wild Peter J, Dolgalev Igor, Heguy Adriana, Sboner Andrea, Ramazangolu Sinan, Hieronymus Haley, Sawyers Charles, Tewari Ashutosh K, Moch Holger, Yoon Ghil Suk, Known Yong Chul, Andrén Ove, Fall Katja, Demichelis Francecsa, Mosquera Juan Miguel, Robinson Brian D, Barbieri Christopher E, Rubin Mark |
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Exclusion of influences of ARMS2 polymorphisms on the central visual field in retinitis pigmentosa.
Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift für Augenheilkunde 2014 231 (1): 51-7. Masahara Hidetaka, Nakazawa Mitsuru, Kawamura Eiji, Eguchi Shuichi |
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Involvement of different mechanisms for the association of CAG repeat length polymorphism in androgen receptor gene with prostate cancer.
American journal of cancer research 2014 4 (6): 886-96. Mao Xueying, Li Jie, Xu Xingxing, Boyd Lara K, He Weiyang, Stankiewicz Elzbieta, Kudahetti Sakunthala C, Cao Guangwen, Berney Daniel, Ren Guosheng, Gou Xin, Zhang Hongwei, Lu Yong-J |
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Screening for BEST1 gene mutations in Chinese patients with bestrophinopathy.
Molecular vision 2014 20 1594-604. Tian Rong, Yang Guoxing, Wang Jing, Chen Youx |
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SLC7A14 linked to autosomal recessive retinitis pigmentosa.
Nature communications 2014 5 3517. Jin Zi-Bing, Huang Xiu-Feng, Lv Ji-Neng, Xiang Lue, Li Dong-Qing, Chen Jiangfei, Huang Changjiang, Wu Jinyu, Lu Fan, Qu J |
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Loss of PTEN is associated with aggressive behavior in ERG-positive prostate cancer.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2013 Dec 22 (12): 2333-44. Leinonen Katri A, Saramäki Outi R, Furusato Bungo, Kimura Takahiro, Takahashi Hiroyuki, Egawa Shin, Suzuki Hiroyoshi, Keiger Kerri, Ho Hahm Sung, Isaacs William B, Tolonen Teemu T, Stenman Ulf-Håkan, Tammela Teuvo L J, Nykter Matti, Bova G Steven, Visakorpi Tap |
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Mitochondrial retinal dystrophy associated with the m.3243A>G mutation.
Ophthalmology 2013 Dec 120 (12): 2684-96. de Laat Paul, Smeitink Jan A M, Janssen Mirian C H, Keunen Jan E E, Boon Camiel J |
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A Longitudinal Study of Stargardt Disease: Quantitative Assessment of Fundus Autofluorescence, Progression and Genotype Correlations.
Investigative ophthalmology & visual science 2013 Nov . Fujinami K, Lois N, Mukherjee R, McBain VA, Tsunoda K, Tsubota K, Stone EM, Fitzke F, Bunce C, Moore AT, Webster AR, Michaelides M |
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Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.
Ophthalmology 2013 Nov 120 (11): 2332-7. Riveiro-Alvarez Rosa, Lopez-Martinez Miguel-Angel, Zernant Jana, Aguirre-Lamban Jana, Cantalapiedra Diego, Avila-Fernandez Almudena, Gimenez Ascension, Lopez-Molina Maria-Isabel, Garcia-Sandoval Blanca, Blanco-Kelly Fiona, Corton Marta, Tatu Sorina, Fernandez-San Jose Patricia, Trujillo-Tiebas Maria-Jose, Ramos Carmen, Allikmets Rando, Ayuso Carm |
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A stem cell-like gene expression signature associates with inferior outcomes and a distinct microRNA expression profile in adults with primary cytogenetically normal acute myeloid leukemia.
Leukemia 2013 Oct 27 (10): 2023-31. Metzeler K H, Maharry K, Kohlschmidt J, Volinia S, Mrózek K, Becker H, Nicolet D, Whitman S P, Mendler J H, Schwind S, Eisfeld A-K, Wu Y-Z, Powell B L, Carter T H, Wetzler M, Kolitz J E, Baer M R, Carroll A J, Stone R M, Caligiuri M A, Marcucci G, Bloomfield C |
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ABCA4 gene screening by next-generation sequencing in a British cohort.
Investigative ophthalmology & visual science 2013 Oct 54 (10): 6662-74. Fujinami Kaoru, Zernant Jana, Chana Ravinder K, Wright Genevieve A, Tsunoda Kazushige, Ozawa Yoko, Tsubota Kazuo, Webster Andrew R, Moore Anthony T, Allikmets Rando, Michaelides Mich |
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Genomic deletion of MAP3K7 at 6q12-22 is associated with early PSA recurrence in prostate cancer and absence of TMPRSS2:ERG fusions.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2013 Feb . Kluth M, Hesse J, Heinl A, Krohn A, Steurer S, Sirma H, Simon R, Mayer PS, Schumacher U, Grupp K, Izbicki JR, Pantel K, Dikomey E, Korbel JO, Plass C, Sauter G, Schlomm T, Minner S |
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High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population.
Orphanet journal of rare diseases 2013 Feb 8 (1): 1. Corton M, Tatu SD, Avila-Fernandez A, Vallespín E, Tapias I, Cantalapiedra D, Blanco-Kelly F, Riveiro-Alvarez R, Bernal S, García-Sandoval B, Baiget M, Ayuso C |
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Urine TMPRSS2:ERG fusion transcript integrated with PCA3 score, genotyping, and biological features are correlated to the results of prostatic biopsies in men at risk of prostate cancer.
The Prostate 2013 Feb 73 (3): 242-9. Cornu Jean-Nicolas, Cancel-Tassin Géraldine, Egrot Christophe, Gaffory Cécile, Haab François, Cussenot Olivi |
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Functional effect of Saffron supplementation and risk genotypes in early age-related macular degeneration: a preliminary report.
Journal of translational medicine 2013 11 228. Marangoni Dario, Falsini Benedetto, Piccardi Marco, Ambrosio Lucia, Minnella Angelo Maria, Savastano Maria Cristina, Bisti Silvia, Maccarone Rita, Fadda Antonello, Mello Enrica, Concolino Paola, Capoluongo Etto |
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Tumor-associated copy number changes in the circulation of patients with prostate cancer identified through whole-genome sequencing.
Genome medicine 2013 5 (4): 30. Heitzer Ellen, Ulz Peter, Belic Jelena, Gutschi Stefan, Quehenberger Franz, Fischereder Katja, Benezeder Theresa, Auer Martina, Pischler Carina, Mannweiler Sebastian, Pichler Martin, Eisner Florian, Haeusler Martin, Riethdorf Sabine, Pantel Klaus, Samonigg Hellmut, Hoefler Gerald, Augustin Herbert, Geigl Jochen B, Speicher Michael |
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BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome.
Archives of ophthalmology (Chicago, Ill. : 1960) 2012 Nov 130 (11): 1425-32. Estrada-Cuzcano Alejandro, Koenekoop Robert K, Senechal Audrey, De Baere Elfride B W, de Ravel Thomy, Banfi Sandro, Kohl Susanne, Ayuso Carmen, Sharon Dror, Hoyng Carel B, Hamel Christian P, Leroy Bart P, Ziviello Carmela, Lopez Irma, Bazinet Alexandre, Wissinger Bernd, Sliesoraityte Ieva, Avila-Fernandez Almudena, Littink Karin W, Vingolo Enzo M, Signorini Sabrina, Banin Eyal, Mizrahi-Meissonnier Liliana, Zrenner Eberhard, Kellner Ulrich, Collin Rob W J, den Hollander Anneke I, Cremers Frans P M, Klevering B Jero |
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Genomic deletion of PTEN is associated with tumor progression and early PSA recurrence in ERG fusion-positive and fusion-negative prostate cancer.
The American journal of pathology 2012 Aug 181 (2): 401-12. Krohn Antje, Diedler Tobias, Burkhardt Lia, Mayer Pascale-Sophie, De Silva Colin, Meyer-Kornblum Marie, Kötschau Darja, Tennstedt Pierre, Huang Joseph, Gerhäuser Clarissa, Mader Malte, Kurtz Stefan, Sirma Hüseyin, Saad Fred, Steuber Thomas, Graefen Markus, Plass Christoph, Sauter Guido, Simon Ronald, Minner Sarah, Schlomm Thorst |
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Correlation between photoreceptor layer integrity and visual function in patients with Stargardt disease: implications for gene therapy.
Investigative ophthalmology & visual science 2012 Jul 53 (8): 4409-15. Testa Francesco, Rossi Settimio, Sodi Andrea, Passerini Ilaria, Di Iorio Valentina, Della Corte Michele, Banfi Sandro, Surace Enrico Maria, Menchini Ugo, Auricchio Alberto, Simonelli Frances |
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Identification of frequent BRAF copy number gain and alterations of RAF genes in chinese prostate cancer.
Genes, chromosomes & cancer 2012 Jul . Ren G, Liu X, Mao X, Zhang Y, Stankiewicz E, Hylands L, Song R, Berney DM, Clark J, Cooper C, Lu YJ |
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Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy.
Ophthalmology 2012 Apr 119 (4): 819-26. Thiadens Alberta A H J, Phan T My Lan, Zekveld-Vroon Renate C, Leroy Bart P, van den Born L Ingeborgh, Hoyng Carel B, Klaver Caroline C W, , Roosing Susanne, Pott Jan-Willem R, van Schooneveld Mary J, van Moll-Ramirez Norka, van Genderen Maria M, Boon Camiel J F, den Hollander Anneke I, Bergen Arthur A B, De Baere Elfride, Cremers Frans P M, Lotery Andrew |
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The different genetic alterations between Western and Chinese prostate cancers and the underlying mechanisms.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2012 Feb 30 (5_suppl): 184. Mao Xueying, Coll Bastus Nuria, Boyd Lara, Yu Yongwei, Ren Guoping, Beltran Luis, Oliver R, Young Bryan D, Berney Dan, Lu Yong-J |
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Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy.
PloS one 2012 7 (3): e32330. Tan Mei Hong, Mackay Donna S, Cowing Jill, Tran Hoai Viet, Smith Alexander J, Wright Genevieve A, Dev-Borman Arundhati, Henderson Robert H, Moradi Phillip, Russell-Eggitt Isabelle, MacLaren Robert E, Robson Anthony G, Cheetham Michael E, Thompson Dorothy A, Webster Andrew R, Michaelides Michel, Ali Robin R, Moore Anthony |
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Presence of FLT3-ITD and high BAALC expression are independent prognostic markers in childhood acute myeloid leukemia.
Blood 2011 Nov 118 (22): 5905-13. Staffas Anna, Kanduri Meena, Hovland Randi, Rosenquist Richard, Ommen Hans Beier, Abrahamsson Jonas, Forestier Erik, Jahnukainen Kirsi, Jónsson Ólafur G, Zeller Bernward, Palle Josefine, Lönnerholm Gudmar, Hasle Henrik, Palmqvist Lars, Ehrencrona Hans, |
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Key pathways are frequently mutated in high-risk childhood acute lymphoblastic leukemia: a report from the Children's Oncology Group.
Blood 2011 Sep 118 (11): 3080-7. Zhang Jinghui, Mullighan Charles G, Harvey Richard C, Wu Gang, Chen Xiang, Edmonson Michael, Buetow Kenneth H, Carroll William L, Chen I-Ming, Devidas Meenakshi, Gerhard Daniela S, Loh Mignon L, Reaman Gregory H, Relling Mary V, Camitta Bruce M, Bowman W Paul, Smith Malcolm A, Willman Cheryl L, Downing James R, Hunger Stephen |
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Further associations between mutations and polymorphisms in the ABCA4 gene: clinical implication of allelic variants and their role as protector/risk factors.
Investigative ophthalmology & visual science 2011 Aug 52 (9): 6206-12. Aguirre-Lamban Jana, González-Aguilera Juan José, Riveiro-Alvarez Rosa, Cantalapiedra Diego, Avila-Fernandez Almudena, Villaverde-Montero Cristina, Corton Marta, Blanco-Kelly Fiona, Garcia-Sandoval Blanca, Ayuso Carm |
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Incidence and prognostic influence of DNMT3A mutations in acute myeloid leukemia.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2011 Jul 29 (21): 2889-96. Thol Felicitas, Damm Frederik, Lüdeking Andrea, Winschel Claudia, Wagner Katharina, Morgan Michael, Yun Haiyang, Göhring Gudrun, Schlegelberger Brigitte, Hoelzer Dieter, Lübbert Michael, Kanz Lothar, Fiedler Walter, Kirchner Hartmut, Heil Gerhard, Krauter Jürgen, Ganser Arnold, Heuser Micha |
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Identification of nine novel loci associated with white blood cell subtypes in a Japanese population.
PLoS genetics 2011 Jun 7 (6): e1002067. Okada Yukinori, Hirota Tomomitsu, Kamatani Yoichiro, Takahashi Atsushi, Ohmiya Hiroko, Kumasaka Natsuhiko, Higasa Koichiro, Yamaguchi-Kabata Yumi, Hosono Naoya, Nalls Michael A, Chen Ming Huei, van Rooij Frank J A, Smith Albert V, Tanaka Toshiko, Couper David J, Zakai Neil A, Ferrucci Luigi, Longo Dan L, Hernandez Dena G, Witteman Jacqueline C M, Harris Tamara B, O'Donnell Christopher J, Ganesh Santhi K, Matsuda Koichi, Tsunoda Tatsuhiko, Tanaka Toshihiro, Kubo Michiaki, Nakamura Yusuke, Tamari Mayumi, Yamamoto Kazuhiko, Kamatani Naoyu |
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Vitamin D receptor protein expression in tumor tissue and prostate cancer progression.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2011 Jun 29 (17): 2378-85. Hendrickson Whitney K, Flavin Richard, Kasperzyk Julie L, Fiorentino Michelangelo, Fang Fang, Lis Rosina, Fiore Christopher, Penney Kathryn L, Ma Jing, Kantoff Philip W, Stampfer Meir J, Loda Massimo, Mucci Lorelei A, Giovannucci Edwa |
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Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome.
The Journal of physiology 2011 Apr 589 (Pt 7): 1681-9. Thompson Dorothy A, Feather Sally, Stanescu Horia C, Freudenthal Bernard, Zdebik Anselm A, Warth Richard, Ognjanovic Milos, Hulton Sally A, Wassmer Evangeline, van't Hoff William, Russell-Eggitt Isabelle, Dobbie Angus, Sheridan Eamonn, Kleta Robert, Bockenhauer Detl |
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Integrative prognostic risk score in acute myeloid leukemia with normal karyotype.
Blood 2011 Apr 117 (17): 4561-8. Damm Frederik, Heuser Michael, Morgan Michael, Wagner Katharina, Görlich Kerstin, Grosshennig Anika, Hamwi Iyas, Thol Felicitas, Surdziel Ewa, Fiedler Walter, Lübbert Michael, Kanz Lothar, Reuter Christoph, Heil Gerhard, Delwel Ruud, Löwenberg Bob, Valk Peter J M, Krauter Jürgen, Ganser Arno |
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PTEN genomic deletion is an early event associated with ERG gene rearrangements in prostate cancer.
BJU international 2011 Feb 107 (3): 477-85. Bismar Tarek A, Yoshimoto Maisa, Vollmer Robin T, Duan Qiuli, Firszt Matthew, Corcos Jacques, Squire Jeremy |
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Spectrum of rhodopsin mutations in Korean patients with retinitis pigmentosa.
Molecular vision 2011 17 844-53. Kim Kwang Joong, Kim Cinoo, Bok Jeong, Kim Kyung-Seon, Lee Eun-Ju, Park Sung Pyo, Chung Hum, Han Bok-Ghee, Kim Hyung-Lae, Kimm Kuchan, Yu Hyeong Gon, Lee Jong-You |
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Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa.
Ophthalmology 2010 Nov 117 (11): 2169-77.e3. Clark Graeme Richard, Crowe Paul, Muszynska Dorota, O'Prey Dominic, O'Neill Justin, Alexander Sharon, Willoughby Colin Eric, McKay Gareth John, Silvestri Giuliana, Simpson David Arth |
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ETS-related gene ERG expression in AML patients is significantly associated with NPM1 mutation status.
European journal of haematology 2010 Oct 85 (4): 361-2. Hämäläinen Mauri, Juvonen Vesa, Häikiö Satu, Lakkala Taina, Johansson Janita, Pelliniemi Tarja-Terttu, Salmi Toivo T, Remes Kari, Kairisto Ve |
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Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients.
Investigative ophthalmology & visual science 2010 Jul 51 (7): 3687-700. Audo Isabelle, Manes Gaël, Mohand-Saïd Saddek, Friedrich Anne, Lancelot Marie-Elise, Antonio Aline, Moskova-Doumanova Veselina, Poch Oliver, Zanlonghi Xavier, Hamel Christian P, Sahel José-Alain, Bhattacharya Shomi S, Zeitz Christi |
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Genotyping microarray for CSNB-associated genes.
Investigative ophthalmology & visual science 2009 Dec 50 (12): 5919-26. Zeitz Christina, Labs Stephan, Lorenz Birgit, Forster Ursula, Uksti Janne, Kroes Hester Y, De Baere Elfride, Leroy Bart P, Cremers Frans P M, Wittmer Mariana, van Genderen Maria M, Sahel José-Alain, Audo Isabelle, Poloschek Charlotte M, Mohand-Saïd Saddek, Fleischhauer Johannes C, Hüffmeier Ulrike, Moskova-Doumanova Veselina, Levin Alex V, Hamel Christian P, Leifert Dorothee, Munier Francis L, Schorderet Daniel F, Zrenner Eberhart, Friedburg Christoph, Wissinger Bernd, Kohl Susanne, Berger Wolfga |
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Predisposition for TMPRSS2-ERG fusion in prostate cancer by variants in DNA repair genes.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2009 Nov 18 (11): 3030-5. Luedeke Manuel, Linnert Carmen M, Hofer Matthias D, Surowy Harald M, Rinckleb Antje E, Hoegel Josef, Kuefer Rainer, Rubin Mark A, Vogel Walther, Maier Christia |
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Prognostic implications of NOTCH1 and FBXW7 mutations in adult acute T-lymphoblastic leukemia.
Haematologica 2009 Oct 94 (10): 1383-90. Baldus Claudia D, Thibaut Julia, Goekbuget Nicola, Stroux Andrea, Schlee Cornelia, Mossner Max, Burmeister Thomas, Schwartz Stefan, Bloomfield Clara D, Hoelzer Dieter, Thiel Eckhard, Hofmann Wolf-Karst |
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Genetic variation in the upstream region of ERG and prostate cancer.
Cancer causes & control : CCC 2009 Sep 20 (7): 1173-80. Lindström Sara, Adami Hans-Olov, Bälter Katarina, Xu Jianfeng, Zheng S Lilly, Sun Jielin, Stattin Pär, Grönberg Henrik, Wiklund Fredr |
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Improving the molecular risk classification for younger (<60 years) de novo cytogenetically normal acute myeloid leukemia (CN AML) patients (pts).
Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2009 May 27 (15_suppl): 7002. Marcucci G, Maharry K, Whitman S P, Paschka P, Baldus C D, Langer C, Mrózek K, Kolitz J E, Larson R A, Bloomfield C D, |
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