Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 75 Records) |
| Query Trace: Disease and ERG[original query] |
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| 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 |
| NCOR1 may be a potential biomarker of a novel molecular subtype of prostate cancer. FEBS open bio 2020 Oct . Tang Lu, Zhang Lixia, Liu Lei, Dong Liping, Dong Yuan, Zhu Wenhe, Wang Huiy |
| Genetic characterization of Stargardt clinical phenotype in South Indian patients using sanger and targeted sequencing. Eye and vision (London, England) 2020 1 7 3. Raj Rajendran Kadarkarai, Dhoble Pankaja, Anjanamurthy Rupa, Chermakani Prakash, Kumaran Manojkumar, Devarajan Bharanidharan, Sundaresan Periasa |
| High Serine-arginine Protein Kinase 1 Expression with PTEN Loss Defines Aggressive Phenotype of Prostate Cancer Associated with Lethal Outcome and Decreased Overall Survival. European urology open science 2021 8 23 1-8. Abou-Ouf Hatem, Assem Hisham, Ghosh Sunita, Karnes R Jeffrey, Stoletov Konstantin, Palanisamy Nallasivam, Lewis John D, Bismar Tarek |
| Spectrum of Disease Severity in Nonsyndromic Patients With Mutations in the CEP290 Gene: A Multicentric Longitudinal Study. Investigative ophthalmology & visual science 2021 7 62 (9): 1. Testa Francesco, Sodi Andrea, Signorini Sabrina, Di Iorio Valentina, Murro Vittoria, Brunetti-Pierri Raffaella, Valente Enza Maria, Karali Marianthi, Melillo Paolo, Banfi Sandro, Simonelli Frances |
| Epidemiology and genomics of prostate cancer in Asian men. Nature reviews. Urology 2021 Mar . Zhu Yao, Mo Miao, Wei Yu, Wu Junlong, Pan Jian, Freedland Stephen J, Zheng Ying, Ye Dingw |
| USH2A-Related Retinitis Pigmentosa: Staging of Disease Severity and Morpho-Functional Studies. Diagnostics (Basel, Switzerland) 2021 2 11 (2): . Falsini Benedetto, Placidi Giorgio, De Siena Elisa, Savastano Maria Cristina, Minnella Angelo Maria, Maceroni Martina, Midena Giulia, Ziccardi Lucia, Parisi Vincenzo, Bertelli Matteo, Maltese Paolo Enrico, Chiurazzi Pietro, Rizzo Stanisl |
| Ocular Characteristics of Patients with Leber Congenital Amaurosis 6 Caused by Pathogenic RPGRIP1 Gene Variation in a Chinese Cohort. Journal of ophthalmology 2021 11 2021 9966427. Mao Yumei, Long Yanling, Liu Bo, Cao Qingling, Li Yijian, Li Sha, Wang Gang, Meng Xiaohong, Li Shiyi |
| 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 |
| Early-onset metastatic and clinically advanced prostate cancer is a distinct clinical and molecular entity characterized by increased TMPRSS2-ERG fusions. Prostate cancer and prostatic diseases 2021 Jan . Chalmers Zachary R, Burns Michael C, Ebot Ericka M, Frampton Garrett M, Ross Jeffrey S, Hussain Maha H A, Abdulkadir Sarki |
| 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 shared genetic architecture between adhesive capsulitis and Dupuytren disease. Journal of shoulder and elbow surgery 2022 Aug . Kim Stuart K, Khan Condor, Ladd Amy L, Tashjian Robert |
| The impact of genetic aberrations on response to radium-223 treatment for castration-resistant prostate cancer with bone metastases. The Prostate 2022 Jun . Liu Alex J, Kosiorek Heidi E, Ueberroth Benjamin E, Jaeger Ellen, Ledet Elisa, Kendi Ayse T, Tzou Katherine, Quevedo Fernando, Choo Richard, Moore Cassandra N, Ho Thai H, Singh Parminder, Keole Sameer R, Wong William W, Sartor Oliver, Bryce Alan |
| Electroretinography as a Biomarker to Monitor the Progression of Stargardt Disease. International journal of molecular sciences 2022 12 23 (24): . Sajovic Jana, Megli? Andrej, Hawlina Marko, Fakin A |
| 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 |
| Determination of ERG(+), EZH2, NKX3.1, and SPINK-1 subtypes to evaluate their association with clonal origin and disease progression in multifocal prostate cancer. Cancer reports (Hoboken, N.J.) 2022 10 e1728. Segura-Moreno Yenifer Yamile, Sanabria-Salas María Carolina, Mesa-López De Mesa Jorge Andrés, Varela-Ramirez Rodolfo, Acosta-Vega Natalia Lizeth, Serrano Martha Luc |
| The kinetics of blast clearance are associated with copy number alterations in childhood B-cell acute lymphoblastic leukemia. Neoplasia (New York, N.Y.) 2022 10 35 100840. Urba?ska Zuzanna, Lejman Monika, Taha Joanna, Madzio Joanna, Ostrowska Kinga, Miarka-Walczyk Karolina, Wypyszczak Kamila, Styka Borys, Jakubowska Justyna, S?dek ?ukasz, Szczepa?ski Tomasz, Sta?czak Marcin, Fendler Wojciech, M?ynarski Wojciech, Pastorczak Aga |
| Analysis of a large prostate cancer family identifies novel and recurrent gene fusion events providing evidence for inherited predisposition. The Prostate 2022 1 82 (5): 540-550. Raspin Kelsie, O'Malley Dannielle E, Marthick James R, Donovan Shaun, Malley Roslyn C, Banks Annette, Redwig Frank, Skala Marketa, Dickinson Joanne L, FitzGerald Liesel |
| Clinical Manifestations and Genetic Analysis of 5 Korean Choroideremia Patients Initially Diagnosed With Retinitis Pigmentosa. Journal of Korean medical science 2022 1 37 (3): e5. Kim Jin Ha, Han Jung Woo, Choi Eun Woo, Bang Ji Hong, Shin Hee Jeong, Jang Mi-Ae, Lee Jong-Young, Choi Jeong Nam, Chang Hun Soo, Park Tae Kwa |
| Natural History of Stargardt Disease: The Longest Follow-Up Cohort Study. Genes 2023 7 14 (7): . Jana Sajovic, Andrej Megli?, Ana Fakin, Jelka Brecelj, Maja Šuštar Habjan, Marko Hawlina, Martina Jarc Vidm |
| Genetic association analysis of 77,539 genomes reveals rare disease etiologies. Nature medicine 2023 3 29 (3): 679-688. Greene Daniel, , Pirri Daniela, Frudd Karen, Sackey Ege, Al-Owain Mohammed, Giese Arnaud P J, Ramzan Khushnooda, Riaz Sehar, Yamanaka Itaru, Boeckx Nele, Thys Chantal, Gelb Bruce D, Brennan Paul, Hartill Verity, Harvengt Julie, Kosho Tomoki, Mansour Sahar, Masuno Mitsuo, Ohata Takako, Stewart Helen, Taibah Khalid, Turner Claire L S, Imtiaz Faiqa, Riazuddin Saima, Morisaki Takayuki, Ostergaard Pia, Loeys Bart L, Morisaki Hiroko, Ahmed Zubair M, Birdsey Graeme M, Freson Kathleen, Mumford Andrew, Turro Erne |
| Determination of TMPRSS2-ERG, SPOP, FOXA1, and IDH1 prostate cancer molecular subtypes in Colombian patients and their possible implications for prognosis. Cell biology international 2023 2 . Montero-Ovalle Wendy, Sanabria-Salas María C, Mesa-López de Mesa Jorge, Varela-Ramírez Rodolfo, Segura-Moreno Yenifer Y, Sánchez-Villalobos Santiago A, Nuñez-Lemus Marcela, Serrano Martha |
| 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 |
| Metastatic prostate cancer is associated with distinct higher frequency of genetic mutations at diagnosis. Urologic oncology 2023 10 . Mohammed Al-Toubat, Samuel Serrano, Ahmed Elshafei, Kashyap Koul, Allison H Feibus, K C Bala |
Genome-wide association study of varicose veins identifies a protective missense variant in GJD3 enriched in the Finnish population.
Communications biology 2023 1 6 (1): 71. Helkkula Pyry, Hassan Shabbeer, Saarentaus Elmo, Vartiainen Emilia, Ruotsalainen Sanni, Leinonen Jaakko T, , Palotie Aarno, Karjalainen Juha, Kurki Mitja, Ripatti Samuli, Tukiainen Ta |
| Retinal Pigment Epithelium and Outer Retinal Atrophy (RORA) in Retinitis Pigmentosa: Functional, Structural, and Genetic Evaluation. Translational vision science & technology 2024 8 13 (8): 44. Maria Cristina Savastano, Giorgio Placidi, Claudia Fossataro, Federico Giannuzzi, Nicola Claudio D'Onofrio, Lorenzo Hu, Valentina Cestrone, Elena D'Agostino, Ilaria Biagini, Ludovica Paris, Giorgia Coppa, Clara Rizzo, Raphael Kilian, Pietro Chiurazzi, Matteo Bertelli, Paolo Enrico Maltese, Benedetto Falsini, Stanislao Riz |
| BRAF-induced EHF expression affects TERT in aggressive papillary thyroid cancer. The Journal of clinical endocrinology and metabolism 2024 8 . Yiyi Xu, Jiwei Gao, Na Wang, Jan Zedenius, Inga-Lena Nilsson, Weng-Onn Lui, Dawei Xu, C Christofer Juhlin, Catharina Larsson, Ninni |
| 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 |
| IKZF1 is a frequent biomarker of adverse prognosis in Mexican pediatric patients with B-acute lymphoblastic leukemia. Frontiers in oncology 2024 4 14 1337954. Joaquin Garcia-Solorio, Juan Carlos Núñez-Enriquez, Marco Jiménez-Olivares, Janet Flores-Lujano, Fernanda Flores-Espino, Carolina Molina-Garay, Alejandra Cervera, Diana Casique-Aguirre, José Gabriel Peñaloza-Gonzalez, Ma Del Rocío Baños-Lara, Ángel García-Soto, César Alejandro Galván-Díaz, Alberto Olaya-Vargas, Hilario Flores Aguilar, Minerva Mata-Rocha, Miguel Ángel Garrido-Hernández, Juan Carlos Solís-Poblano, Nuria Citlalli Luna-Silva, Lena Sarahi Cano-Cuapio, Pierre Mitchel Aristil-Chery, Fernando Herrera-Quezada, Karol Carrillo-Sanchez, Anallely Muñoz-Rivas, Luis Leonardo Flores-Lagunes, Elvia Cristina Mendoza-Caamal, Beatriz Eugenia Villegas-Torres, Vincent González-Osnaya, Elva Jiménez-Hernández, José Refugio Torres-Nava, Jorge Alfonso Martín-Trejo, María de Lourdes Gutiérrez-Rivera, Rosa Martha Espinosa-Elizondo, Laura Elizabeth Merino-Pasaye, María Luisa Pérez-Saldívar, Silvia Jiménez-Morales, Everardo Curiel-Quesada, Haydeé Rosas-Vargas, Juan Manuel Mejía-Arangure, Carmen Alaez-Vers |
| PTEN, ERG, SPINK1, and TFF3 Status and Relationship in a Prostate Cancer Cohort from Jordanian Arab Population. Medicina (Kaunas, Lithuania) 2024 1 60 (1): . Samir Al Bashir, Mohammed S Alorjani, Khalid Kheirallah, Mohammad Al Hamad, Husam K Haddad, Ahmad Al-Dwairy, Baha A Bani-Fawwaz, Najla Aldaoud, Omar Halalsheh, Saddam Amawi, Ismail I Matal |
- Page last reviewed:Feb 1, 2024
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