Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 35 Records) |
Query Trace: CRB1[original query] |
---|
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 |
A genome-wide search for linkage to allergic rhinitis in Danish sib-pair families. European journal of human genetics : EJHG 2012 Sep 20 (9): 965-72. Kruse Lisbeth Venø, Nyegaard Mette, Christensen Ulla, Møller-Larsen Steffen, Haagerup Annette, Deleuran Mette, Hansen Lars Gudmund, Venø Stine Krogh, Goossens Dirk, Del-Favero Jurgen, Børglum Anders Dupo |
Defining the contribution of SNPs identified in asthma GWAS to clinical variables in asthmatic children. BMC medical genetics 2013 14 100. Tulah Asif S, Holloway John W, Sayers I |
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 |
Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing. PloS one 2014 9 (8): e104281. Watson Christopher M, El-Asrag Mohammed, Parry David A, Morgan Joanne E, Logan Clare V, Carr Ian M, Sheridan Eamonn, Charlton Ruth, Johnson Colin A, Taylor Graham, Toomes Carmel, McKibbin Martin, Inglehearn Chris F, Ali Man |
Mutation analysis of Leber congenital amaurosis-associated genes in patients with retinitis pigmentosa. Molecular medicine reports 2015 Mar 11 (3): 1827-32. Shen Tao, Guan Liping, Li Shiqiang, Zhang Jianguo, Xiao Xueshan, Jiang Hui, Yang Jianhua, Guo Xiangming, Wang Jun, Zhang Qingjio |
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 |
Exome sequencing of oral squamous cell carcinoma in users of Arabian snuff reveals novel candidates for driver genes. International journal of cancer 2016 Mar . Al-Hebshi Nezar Noor, Li Shiyong, Nasher Akram Thabet, El-Setouhy Maged, Alsanosi Rashad, Blancato Jan, Loffredo Christoph |
Next-generation sequencing-based comprehensive molecular analysis of 43 Japanese patients with cone and cone-rod dystrophies. Molecular vision 2016 22 150-60. Oishi Maho, Oishi Akio, Gotoh Norimoto, Ogino Ken, Higasa Koichiro, Iida Kei, Makiyama Yukiko, Morooka Satoshi, Matsuda Fumihiko, Yoshimura Nagahi |
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 |
Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing. Scientific reports 2018 May 8 (1): 8279. Hosono Katsuhiro, Nishina Sachiko, Yokoi Tadashi, Katagiri Satoshi, Saitsu Hirotomo, Kurata Kentaro, Miyamichi Daisuke, Hikoya Akiko, Mizobuchi Kei, Nakano Tadashi, Minoshima Shinsei, Fukami Maki, Kondo Hiroyuki, Sato Miho, Hayashi Takaaki, Azuma Noriyuki, Hotta Yoshihi |
Relative frequency of inherited retinal dystrophies in Brazil. Scientific reports 2018 Oct 8 (1): 15939. Motta Fabiana Louise, Martin Renan Paulo, Filippelli-Silva Rafael, Salles Mariana Vallim, Sallum Juliana Maria Ferr |
Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next-generation sequencing. Molecular genetics & genomic medicine 2019 11 8 (1): . Zenteno Juan C, García-Montaño Leopoldo A, Cruz-Aguilar Marisa, Ronquillo Josué, Rodas-Serrano Agustín, Aguilar-Castul Luis, Matsui Rodrigo, Vencedor-Meraz Carlos I, Arce-González Rocío, Graue-Wiechers Federico, Gutiérrez-Paz Mario, Urrea-Victoria Tatiana, de Dios Cuadras Ulises, Chacón-Camacho Oscar |
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy. The British journal of ophthalmology 2019 10 104 (7): 932-937. Xu Ke, Xie Yue, Sun Tengyang, Zhang Xiaohui, Chen Chunjie, Li Ya |
Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients. American journal of medical genetics. Part C, Seminars in medical genetics 2020 9 184 (3): 728-752. Sallum Juliana Maria Ferraz, Motta Fabiana Louise, Arno Gavin, Porto Fernanda Belga Ottoni, Resende Rosane Guazi, Belfort Rube |
Evaluation of the genetic association between early-onset primary angle-closure glaucoma and retinitis pigmentosa. Experimental eye research 2020 6 197 108118. Liu Xing, Li Jiali, Lin Shufen, Xiao Xueshan, Luo Jingyi, Wei Wei, Ling Yunlan, Fang Lei, Xiao Hui, Chen Liming, Huang Jingjing, Zhong Yimin, Zhang Qingjio |
CRB1 related retinal degeneration with novel mutation. American journal of ophthalmology case reports 2020 4 18 100699. Ghiam Benjamin K, Wood Edward H, Thanos Aristomenis, Randhawa Sande |
Novel gene variants in Polish patients with Leber congenital amaurosis (LCA). Orphanet journal of rare diseases 2020 Dec 15 (1): 345. Skorczyk-Werner Anna, Niedziela Zuzanna, Stopa Marcin, Krawczy?ski Maciej Robe |
Molecular genetics with clinical characteristics of Leber congenital amaurosis in the Han population of western China. Ophthalmic genetics 2021 5 42 (4): 392-401. Zhu Luyao, Ouyang Wangbin, Zhang Minfang, Wang Hao, Li Shiying, Meng Xiaohong, Yin Zheng Q |
Generation of the human iPSC line ESi082-A from a patient with macular dystrophy associated to mutations in the CRB1 gene. Stem cell research 2021 3 53 102301. Cañibano-Hernández Alberto, Valdes-Sanchez Lourdes, Garcia-Delgado Ana B, Ponte-Zúñiga Beatriz, Diaz-Corrales Francisco J, de la Cerda Ber |
Discovery and fine-mapping of height loci via high-density imputation of GWASs in individuals of African ancestry.
American journal of human genetics 2021 Apr 108 (4): 564-582. Graff Mariaelisa, Justice Anne E, Young Kristin L, Marouli Eirini, Zhang Xinruo, Fine Rebecca S, Lim Elise, Buchanan Victoria, Rand Kristin, Feitosa Mary F, Wojczynski Mary K, Yanek Lisa R, Shao Yaming, Rohde Rebecca, Adeyemo Adebowale A, Aldrich Melinda C, Allison Matthew A, Ambrosone Christine B, Ambs Stefan, Amos Christopher, Arnett Donna K, Atwood Larry, Bandera Elisa V, Bartz Traci, Becker Diane M, Berndt Sonja I, Bernstein Leslie, Bielak Lawrence F, Blot William J, Bottinger Erwin P, Bowden Donald W, Bradfield Jonathan P, Brody Jennifer A, Broeckel Ulrich, Burke Gregory, Cade Brian E, Cai Qiuyin, Caporaso Neil, Carlson Chris, Carpten John, Casey Graham, Chanock Stephen J, Chen Guanjie, Chen Minhui, Chen Yii-Der I, Chen Wei-Min, Chesi Alessandra, Chiang Charleston W K, Chu Lisa, Coetzee Gerry A, Conti David V, Cooper Richard S, Cushman Mary, Demerath Ellen, Deming Sandra L, Dimitrov Latchezar, Ding Jingzhong, Diver W Ryan, Duan Qing, Evans Michele K, Falusi Adeyinka G, Faul Jessica D, Fornage Myriam, Fox Caroline, Freedman Barry I, Garcia Melissa, Gillanders Elizabeth M, Goodman Phyllis, Gottesman Omri, Grant Struan F A, Guo Xiuqing, Hakonarson Hakon, Haritunians Talin, Harris Tamara B, Harris Curtis C, Henderson Brian E, Hennis Anselm, Hernandez Dena G, Hirschhorn Joel N, McNeill Lorna Haughton, Howard Timothy D, Howard Barbara, Hsing Ann W, Hsu Yu-Han H, Hu Jennifer J, Huff Chad D, Huo Dezheng, Ingles Sue A, Irvin Marguerite R, John Esther M, Johnson Karen C, Jordan Joanne M, Kabagambe Edmond K, Kang Sun J, Kardia Sharon L, Keating Brendan J, Kittles Rick A, Klein Eric A, Kolb Suzanne, Kolonel Laurence N, Kooperberg Charles, Kuller Lewis, Kutlar Abdullah, Lange Leslie, Langefeld Carl D, Le Marchand Loic, Leonard Hampton, Lettre Guillaume, Levin Albert M, Li Yun, Li Jin, Liu Yongmei, Liu Youfang, Liu Simin, Lohman Kurt, Lotay Vaneet, Lu Yingchang, Maixner William, Manson JoAnn E, McKnight Barbara, Meng Yan, Monda Keri L, Monroe Kris, Moore Jason H, Mosley Thomas H, Mudgal Poorva, Murphy Adam B, Nadukuru Rajiv, Nalls Mike A, Nathanson Katherine L, Nayak Uma, N'Diaye Amidou, Nemesure Barbara, Neslund-Dudas Christine, Neuhouser Marian L, Nyante Sarah, Ochs-Balcom Heather, Ogundiran Temidayo O, Ogunniyi Adesola, Ojengbede Oladosu, Okut Hayrettin, Olopade Olufunmilayo I, Olshan Andrew, Padhukasahasram Badri, Palmer Julie, Palmer Cameron D, Palmer Nicholette D, Papanicolaou George, Patel Sanjay R, Pettaway Curtis A, Peyser Patricia A, Press Michael F, Rao D C, Rasmussen-Torvik Laura J, Redline Susan, Reiner Alex P, Rhie Suhn K, Rodriguez-Gil Jorge L, Rotimi Charles N, Rotter Jerome I, Ruiz-Narvaez Edward A, Rybicki Benjamin A, Salako Babatunde, Sale Michele M, Sanderson Maureen, Schadt Eric, Schreiner Pamela J, Schurmann Claudia, Schwartz Ann G, Shriner Daniel A, Signorello Lisa B, Singleton Andrew B, Siscovick David S, Smith Jennifer A, Smith Shad, Speliotes Elizabeth, Spitz Margaret, Stanford Janet L, Stevens Victoria L, Stram Alex, Strom Sara S, Sucheston Lara, Sun Yan V, Tajuddin Salman M, Taylor Herman, Taylor Kira, Tayo Bamidele O, Thun Michael J, Tucker Margaret A, Vaidya Dhananjay, Van Den Berg David J, Vedantam Sailaja, Vitolins Mara, Wang Zhaoming, Ware Erin B, Wassertheil-Smoller Sylvia, Weir David R, Wiencke John K, Williams Scott M, Williams L Keoki, Wilson James G, Witte John S, Wrensch Margaret, Wu Xifeng, Yao Jie, Zakai Neil, Zanetti Krista, Zemel Babette S, Zhao Wei, Zhao Jing Hua, Zheng Wei, Zhi Degui, Zhou Jie, Zhu Xiaofeng, Ziegler Regina G, Zmuda Joe, Zonderman Alan B, Psaty Bruce M, Borecki Ingrid B, Cupples L Adrienne, Liu Ching-Ti, Haiman Christopher A, Loos Ruth, Ng Maggie C Y, North Kari |
CRB1-Related Retinal Dystrophies in a Cohort of 50 Patients: A Reappraisal in the Light of Specific Müller Cell and Photoreceptor CRB1 Isoforms. International journal of molecular sciences 2021 12 22 (23): . Mairot Kévin, Smirnov Vasily, Bocquet Béatrice, Labesse Gilles, Arndt Carl, Defoort-Dhellemmes Sabine, Zanlonghi Xavier, Hamroun Dalil, Denis Danièle, Picot Marie-Christine, David Thierry, Grunewald Olivier, Pégart Mako, Huguet Hélèna, Roux Anne-Françoise, Kalatzis Vasiliki, Dhaenens Claire-Marie, Meunier Isabel |
The Genetic Landscape of Inherited Retinal Diseases in a Mexican Cohort: Genes, Mutations and Phenotypes. Genes 2021 Nov 12 (11): . Villanueva-Mendoza Cristina, Tuson Miquel, Apam-Garduño David, de Castro-Miró Marta, Tonda Raul, Trotta Jean Remi, Marfany Gemma, Valero Rebeca, Cortés-González Vianney, Gonzàlez-Duarte Ros |
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy. Scientific reports 2022 12 12 (1): 20815. Karali Marianthi, Testa Francesco, Di Iorio Valentina, Torella Annalaura, Zeuli Roberta, Scarpato Margherita, Romano Francesca, Onore Maria Elena, Pizzo Mariateresa, Melillo Paolo, Brunetti-Pierri Raffaella, Passerini Ilaria, Pelo Elisabetta, Cremers Frans P M, Esposito Gabriella, Nigro Vincenzo, Simonelli Francesca, Banfi Sand |
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 |
Generation of CRB1 RP Patient-Derived iPSCs and a CRISPR/Cas9-Mediated Homology-Directed Repair Strategy for the CRB1 c.2480G>T Mutation. Advances in experimental medicine and biology 2023 7 1415 571-576. Bruna Lopes da Costa, Yao Li, Sarah R Levi, Stephen H Tsang, Peter M J Qui |
Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium. Investigative ophthalmology & visual science 2024 8 65 (10): 40. Pam A T Heutinck, L Ingeborgh van den Born, Maikel Vermeer, Adriana I Iglesias Gonzales, Carel B Hoyng, Jan Willem R Pott, Hester Y Kroes, Mary J van Schooneveld, Camiel J F Boon, Maria M van Genderen, Astrid S Plomp, Yvonne de Jong-Hesse, Michelle B van Egmond-Ebbeling, Lies H Hoefsloot, Arthur A Bergen, Caroline C W Klaver, Magda A Meester-Smoor, Alberta A H J Thiadens, Virginie J M Verhoev |
Relationship between genotype, phenotype, and refractive status in patients of inherited retinal degeneration. Eye (London, England) 2024 8 . Wan-Chen Tsai, Yao-Lin Liu, Tzu-Hsun Tsai, Ying-Ju Lai, Chang-Hao Yang, Chung-May Yang, Tzyy-Chang Ho, Chang-Ping Lin, Yi-Ting Hsieh, Po-Ting Yeh, Chao-Wen Lin, Tso-Ting Lai, Pei-Lung Chen, Ta-Ching Ch |
Enhanced Learning and Memory in Patients with CRB1 Retinopathy. Genes 2024 6 15 (6): . Genevieve A Wright, Ana Catalina Rodriguez-Martinez, Hanne Conn, Mar Matarin, Pamela Thompson, Anthony T Moore, Rola Ba-Abbad, Andrew R Webster, Mariya Moosaj |
Genotype-phenotype associations in CRB1 bi-allelic patients: a novel mutation, a systematic review and meta-analysis. BMC ophthalmology 2024 4 24 (1): 167. Ahmad Daher, Malak Banjak, Jinane Noureldine, Joseph Nehme, Said El Shami |
- Page last reviewed:Feb 1, 2024
- Content source: