Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 190 Records) |
Query Trace: Gene therapy[original query] |
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The cross-talk of cancer-associated fibroblasts assist in prognosis and immunotherapy in patients with breast carcinoma. Cancer gene therapy 2022 Aug . Gu Xuyu, Zheng Shiya, Zhang Haifeng, Sun Xiaotong, Zhou Q |
Evaluation of clonal hematopoiesis in pediatric ADA-SCID gene therapy participants. Blood advances 2022 8 6 (21): 5732-5736. White Shanna L, Lee Thomas D, Toy Traci, Carroll Judith E, Polsky Lilian, Campo Fernandez Beatriz, Davila Alejandra, Kohn Donald B, Chang Vivian |
The Clinically Actionable Molecular Profile of Early versus Late-Stage Non-Small Cell Lung Cancer, an Individual Age and Sex Propensity-Matched Pair Analysis. Current oncology (Toronto, Ont.) 2022 4 29 (4): 2630-2643. McGuire Anna L, McConechy Melissa K, Melosky Barb L, English John C, Choi James J, Peng Defen, Yee John, Furman Benjamin L S, Aguirre Hernandez Rosalia, Feijao Pedro, Mulder David, Hughesman Curtis, Yip Steph |
Congenital Stationary Night Blindness: Clinical and Genetic Features. International journal of molecular sciences 2022 12 23 (23): . Kim Angela H, Liu Pei-Kang, Chang Yin-Hsi, Kang Eugene Yu-Chuan, Wang Hung-Hsuan, Chen Nelson, Tseng Yun-Ju, Seo Go Hun, Lee Hane, Liu Laura, Chao An-Ning, Chen Kuan-Jen, Hwang Yih-Shiou, Wu Wei-Chi, Lai Chi-Chun, Tsang Stephen H, Hsiao Meng-Chang, Wang Nan-K |
Randomized trial of bilateral gene therapy injection for m.11778G?>?A MT-ND4 Leber optic neuropathy. Brain : a journal of neurology 2022 11 . Newman Nancy J, Yu-Wai-Man Patrick, Subramanian Prem S, Moster Mark L, Wang An-Guor, Donahue Sean P, Leroy Bart P, Carelli Valerio, Biousse Valerie, Vignal-Clermont Catherine, Sergott Robert C, Sadun Alfredo A, Fernández Gema Rebolleda, Chwalisz Bart K, Banik Rudrani, Bazin Fabienne, Roux Michel, Cox Eric D, Taiel Magali, Sahel José-Alain, |
Molecular background of Leber congenital amaurosis in a Polish cohort of patients-novel variants discovered by NGS. Journal of applied genetics 2022 11 64 (1): 89-104. Skorczyk-Werner Anna, Sowi?ska-Seidler Anna, Wawrocka Anna, Walczak-Sztulpa Joanna, Krawczy?ski Maciej Robe |
Carrier frequency and incidence estimation of RPE65-associated inherited retinal diseases in East Asian population by population database-based analysis. Orphanet journal of rare diseases 2022 11 17 (1): 409. Cho Eun Hye, Park Jong Eun, Lee Taeheon, Ha Kyeongsu, Ki Chang-Se |
Retinitis Punctata Albescens and RLBP1-Allied Phenotypes: Phenotype-Genotype Correlation and Natural History in the Aim of Gene Therapy. Ophthalmology science 2022 10 1 (3): 100052. Bocquet Béatrice, El Alami Trebki Hicham, Roux Anne Françoise, Labesse Gilles, Brabet Philippe, Arndt Carl, Zanlonghi Xavier, Defoort-Dhellemmes Sabine, Hamroun Dalil, Boulicot-Séguin Céline, Lequeux Léopoldine, Picot Marie Christine, Huguet Hélèna, Audo Isabelle, Dhaenens Claire Marie, Kalatzis Vasiliki, Meunier Isabel |
Clinical and genetic features of Koreans with retinitis pigmentosa associated with mutations in rhodopsin. Frontiers in genetics 2023 9 14 1240067. Young Hoon Jung, Jay Jiyong Kwak, Kwangsic Joo, Hyuk Jun Lee, Kyu Hyung Park, Min Seok Kim, Eun Kyoung Lee, Suk Ho Byeon, Christopher Seungkyu Lee, Jinu Han, Junwon Lee, Chang Ki Yoon, Se Joon W |
Functional evaluation allows ACMG/AMP-based re-classification of CNGA3 variants associated with achromatopsia. Genetics in medicine : official journal of the American College of Medical Genetics 2023 9 100979. Maria Solaki, Bernd Wissinger, Susanne Kohl, Peggy Reut |
A Novel Pair of Compound Heterozygous Mutation of EYS in a Han Chinese Family with Retinitis Pigmentosa. Genetic testing and molecular biomarkers 2023 8 27 (8): 258-266. Chao Dai, Weiming Ren, Yao Wei, Chunbao Xie, Suyang Duan, Qi Li, Lingxi Jiang, Yi S |
From gene-discovery to gene-tailored clinical management: 25 years of research in channelopathies and cardiomyopathies. Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology 2023 8 25 (8): . Lia Crotti, Pedro Brugada, Hugh Calkins, Philippe Chevalier, Giulio Conte, Gherardo Finocchiaro, Pieter G Postema, Vincent Probst, Peter J Schwartz, Elijah R Be |
Clinical and genetic characterization of a large cohort of Chinese patients with Bietti crystalline retinopathy. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 2023 8 . Huajin Li, Xing Wei, Shijing Wu, Tian Zhu, Zixi Sun, Hui Li, Xiaoxu Han, Xuan Zou, Fengxia Yao, Ruifang S |
Association between AGTR1 (c.1166 A>C) Polymorphisms and Kidney Injury in Hypertension. Frontiers in bioscience (Landmark edition) 2023 8 28 (7): 146. Yiyao Zeng, Yufeng Jiang, Ziyin Huang, Kexin Li, Yafeng Zh |
SFXN3 is Associated with Poor Clinical Outcomes and Sensitivity to the Hypomethylation Therapy in Non-M3 Acute Myeloid Leukemia Patients. Current gene therapy 2023 7 . YuXuan Dong, Fengbo Jin, Jing Wang, Qingsheng Li, Zhenqi Huang, Leiming Xia, Mingzhen Ya |
Analysis of Structural Variants Previously Associated With ALS in Europeans Highlights Genomic Architectural Differences in Africans. Neurology. Genetics 2023 6 9 (4): e200077. Nomakhosazana R Monnakgotla, Amokelani C Mahungu, Jeannine M Heckmann, Gerrit Botha, Nicola J Mulder, Gang Wu, Evadnie Rampersaud, Jason Myers, Marka Van Blitterswijk, Rosa Rademakers, J Paul Taylor, Joanne Wuu, Michael Benatar, Melissa N |
The underlying mechanism of transcription factor IRF1, PRDM1, and ZNF263 involved in the regulation of NPPB rs3753581 on pulse pressure hypertension. Gene 2023 6 147580. Xiaodan Wu, Na Zhang, Jianjun Yu, Min Liang, Haojie Xu, Jiamin Hu, Shizhu Lin, Jingjia Qiu, Caizhu Lin, Weilin Liu, Dajun Chai, Kai Ze |
Functional Analysis of a Novel, Non-Canonical RPGR Splice Variant Causing X-Linked Retinitis Pigmentosa. Genes 2023 4 14 (4): . Samuel Koller, Tim Beltraminelli, Jordi Maggi, Agnès Wlodarczyk, Silke Feil, Luzy Baehr, Christina Gerth-Kahlert, Moreno Menghini, Wolfgang Berg |
Cost-effective genotyping for classical congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) in resource-poor settings: multiplex ligation probe amplification (MLPA) with/without sequential next-generation sequencing (NGS). Hormones (Athens, Greece) 2023 3 . Monteiro Ana, Pavithran Praveen V, Puthukulangara Manuprasad, Bhavani Nisha, Nampoothiri Sheela, Yesodharan Dhanya, Kumaran Resh |
Benefits of plerixafor for mobilization of peripheral blood stem cells prior to autologous transplantation: a dual-center retrospective cohort study. Cytotherapy 2023 3 . Nakamura Naokazu, Jo Tomoyasu, Arai Yasuyuki, Matsumoto Mayumi, Sakai Tomomi, Tsunemine Hiroko, Takaori-Kondo Akifumi, Arima Nobuyos |
Next-generation sequencing approach to molecular diagnosis of Iranian patients with Duchenne/Becker muscular dystrophy: Several novel variants identified. eNeurologicalSci 2023 2 30 100446. Bakhshandeh MohammadKazem, Behroozi Sami |
STAT5a and SH2B3 novel mutations display malignancy roles in a triple-negative primary myelofibrosis patient. Cancer gene therapy 2023 12 . Shubing Zhang, Jinhua Yan, Lan He, Zhiping Jiang, Hao Jia |
Observational cohort study of long-term outcomes of liver transplantation in haemophilia. Haemophilia : the official journal of the World Federation of Hemophilia 2023 12 . Margaret V Ragni, Jessica Callis, Nabil Daoud, Brian Hu, Matthew Manuel, Jarren Santos, Jonathan Schwartz, Kenneth D Friedman, Peter Kouides, Philip Kuriakose, Andrew D Leavitt, Ming Y Lim, Nicoletta Machin, Michael Recht, Tammuella Chrisentery-Singlet |
Predicted deleterious variants in the human genome relevant to gene therapy with adeno-associated virus vectors. Molecular therapy. Methods & clinical development 2023 12 31 101136. Mahboubeh R Rostami, Philip L Leopold, Jenifer M Vasquez, Miguel de Mulder Rougvie, Alya Al Shakaki, Ali Ait Hssain, Amal Robay, Neil R Hackett, Jason G Mezey, Ronald G Cryst |
A Molecular Genetic Analysis of RPE65-Associated Forms of Inherited Retinal Degenerations in the Russian Federation. Genes 2023 11 14 (11): . Anna Stepanova, Natalya Ogorodova, Vitaly Kadyshev, Olga Shchagina, Sergei Kutsev, Aleksandr Polyak |
KCNV2-associated retinopathy: genotype-phenotype correlations - KCNV2 study group report 3. The British journal of ophthalmology 2023 10 . Thales A C de Guimaraes, Michalis Georgiou, Anthony G Robson, Kaoru Fujinami, Ajoy Vincent, Fadi Nasser, Samer Khateb, Omar A Mahroo, Nikolas Pontikos, Maurício E Vargas, Alberta A H J Thiadens, Emanuel R de Carvalho, Xuan-Than-An Nguyen, Gavin Arno, Yu Fujinami-Yokokawa, Xiao Liu, Kazushige Tsunoda, Takaaki Hayashi, Belén Jiménez-Rolando, Maria Inmaculada Martin-Merida, Almudena Avila-Fernandez, Ester Carreño Salas, Blanca Garcia-Sandoval, Carmen Ayuso, Dror Sharon, Susanne Kohl, Rachel M Huckfeldt, Eyal Banin, Mark E Pennesi, Arif O Khan, Bernd Wissinger, Andrew R Webster, Elise Heon, Camiel J F Boon, Eberhard Zrenner, Michel Michaelid |
Whole Exome Sequencing Identified Two Single Nucleotide Polymorphisms of Human Leukocyte Antigen-DRB5 in Familial Sarcoidosis in China. Current gene therapy 2023 1 . Zhang Qian, Xu Zuojun, Huang Hui, Zhang Meij |
Interaction of environmental factors with the polygenic risk scores of thinness-related genes in preventing obesity risk in middle-aged adults: The KoGES.
Journal of human nutrition and dietetics : the official journal of the British Dietetic Association 2023 1 . Zhou Jun-Yu, Liu Meiling, Park Sunm |
Wiskott-Aldrich Syndrome: A study on 577 patients defining the genotype as a predictive biomarker for disease severity. Blood 2024 4 . Tanja C Vallée, Jannik S Glasmacher, Hannes Buchner, Peter D Arkwright, Uta Behrends, Anastasia Bondarenko, Michael J Browning, David K Buchbinder, Alessandro Cattoni, Liudmyla Chernyshova, Peter Ciznar, Theresa Cole, Wojciech Czogala, Gregor Dueckers, John David M Edgar, Fatih Erbey, Anders Fasth, Francesca Ferrua, Renata Formankova, Eleonora Gambineri, Andrew R Gennery, Frederick D Goldman, Luis Ignacio Gonzalez-Granado, Carsten Heilmann, Tarja Heiskanen-Kosma, Hanna Juntti, Leena Kainulainen, Hirokazu Kanegane, Neslihan E Karaca, Sara Sebnem Kilic, Christoph Klein, Sylwia Koltan, Irina Kondratenko, Isabelle Meyts, Gulnara M Nasrullayeva, Lucia Dora Notarangelo, Srdjan Pasic, Isabelle Pellier, Claudio Pignata, Siraj Ahmed Misbah, Ansgar S Schulz, Gesmar Rs Segundo, Anna Shcherbina, Mary A Slatter, Robert Sokolic, Pere Soler-Palacin, Polina Stepensky, Joris M van Montfrans, Samppa Ryhänen, Beata Wolska-Ku?nierz, John B Ziegler, Xiaodong Zhao, Alessandro Aiuti, Hans D Ochs, Michael H Albe |
GRIN2A mutation is a novel indicator of stratifying beneficiaries of immune checkpoint inhibitors in multiple cancers. Cancer gene therapy 2024 1 . Gan-Xun Li, Rui-Zhi Chang, Tong-Tong Liu, Guan-Nan Jin, Kan Lu, Tu-Ying Yong, Zifu Li, Ji-Hong Liu, Bixiang Zhang, Wan-Guang Zhang, Ze-Yang Di |
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- Page last updated:Apr 22, 2024
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