Human Genome Epidemiology Literature Finder
Records 1 - 15 (of 15 Records) |
Query Trace: Abnormalities and ERG[original query] |
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The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations. Archives of ophthalmology (Chicago, Ill. : 1960) 2004 Jul 122 (7): 1029-37. Dharmaraj Sharola, Leroy Bart P, Sohocki Melanie M, Koenekoop Robert K, Perrault Isabelle, Anwar Khalid, Khaliq Shagufta, Devi R Summathi, Birch David G, De Pool Elaine, Izquierdo Natalio, Van Maldergem Lionel, Ismail Mohammad, Payne Annette M, Holder Graham E, Bhattacharya Shomi S, Bird Alan C, Kaplan Josseline, Maumenee Irene |
Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa. European journal of human genetics : EJHG 2004 Dec 12 (12): 1024-32. Klevering B Jeroen, Yzer Suzanne, Rohrschneider Klaus, Zonneveld Marijke, Allikmets Rando, van den Born L Ingeborgh, Maugeri Alessandra, Hoyng Carel B, Cremers Frans P |
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 |
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 |
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 |
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 |
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 |
Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR Mutations. Investigative ophthalmology & visual science 2020 12 61 (14): 36. Di Iorio Valentina, Karali Marianthi, Melillo Paolo, Testa Francesco, Brunetti-Pierri Raffaella, Musacchia Francesco, Condroyer Christel, Neidhardt John, Audo Isabelle, Zeitz Christina, Banfi Sandro, Simonelli Frances |
Impaired Ganglion Cell Function Objectively Assessed by the Photopic Negative Response in Affected and Asymptomatic Members From Brazilian Families With Leber's Hereditary Optic Neuropathy. Frontiers in neurology 2021 2 11 628014. Botelho Gabriel Izan Santos, Salomão Solange Rios, Tengan Célia Harumi, Karanjia Rustum, Moura Felipo Victor, Rocha Daniel Martins, da Silva Paula Baptista Eliseo, Fernandes Arthur Gustavo, Watanabe Sung Eun Song, Sacai Paula Yuri, Belfort Rubens, Carelli Valerio, Sadun Alfredo Arrigo, Berezovsky Adria |
Genetic and genomic analysis of acute lymphoblastic leukemia in older adults reveals a distinct profile of abnormalities: analysis of 210 patients from the UKALL14 and UKALL60+ clinical trials. Haematologica 2021 11 107 (9): 2051-2063. Creasey Thomas, Barretta Emilio, Ryan Sarra L, Butler Ellie, Kirkwood Amy A, Leongamornlert Daniel, Papaemmanuil Elli, Patrick Pip, Clifton-Hadley Laura, Patel Bela, Menne Tobias, McMillan Andrew K, Harrison Christine J, Rowntree Clare J, Morley Nick, Marks David I, Fielding Adele K, Moorman Anthony |
A Novel Splice-Site Variant in CACNA1F Causes a Phenotype Synonymous with Åland Island Eye Disease and Incomplete Congenital Stationary Night Blindness. Genes 2021 1 12 (2): . Mahmood Usman, Méjécase Cécile, Ali Syed M A, Moosajee Mariya, Kozak Ig |
A five-year follow-up of ABCA4 carriers showing deterioration of retinal function and increased structural changes. Molecular vision 2022 11 28 300-316. Kjellström Ulrika, Andréasson St |
DNA Copy Number Alterations and Copy Neutral Loss of Heterozygosity in Adult Ph-Negative Acute B-Lymphoblastic Leukemia: Focus on the Genes Involved. International journal of molecular sciences 2023 12 24 (24): . Natalya Risinskaya, Maria Gladysheva, Abdulpatakh Abdulpatakhov, Yulia Chabaeva, Valeriya Surimova, Olga Aleshina, Anna Yushkova, Olga Dubova, Nikolay Kapranov, Irina Galtseva, Sergey Kulikov, Tatiana Obukhova, Andrey Sudarikov, Elena Parovichniko |
Novel high-risk acute myeloid leukemia subgroup with ERG amplification and Biallelic loss of TP53. Cancer genetics 2023 1 272-273 23-28. Schandl Cynthia A, Mazzoni Sandra, Znoyko Iya, Nahhas Georges J, Chung Dongjun, Ding Yanna, Hess Brian, Wolff Daynna |
Prognostic utility of biopsy-based PTEN and ERG status on biochemical progression and overall survival after SBRT for localized prostate cancer. Frontiers in oncology 2024 4 14 1381134. Michael C Repka, Tamir Sholklapper, Alan L Zwart, Malika Danner, Marilyn Ayoob, Thomas Yung, Siyuan Lei, Brian T Collins, Deepak Kumar, Simeng Suy, Ryan A Hankins, Amar U Kishan, Sean P Colli |
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- Page last updated:Apr 22, 2024
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