Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 22 (of 22 Records) |
Query Trace: Cone Dystrophy[original query] |
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Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis. American journal of human genetics 2004 Oct 75 (4): 639-46. Perrault Isabelle, Hanein Sylvain, Gerber Sylvie, Barbet Fabienne, Ducroq Dominique, Dollfus Helene, Hamel Christian, Dufier Jean-Louis, Munnich Arnold, Kaplan Josseline, Rozet Jean-Mich |
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 |
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 |
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 |
Cone dystrophy in patient with homozygous RP1L1 mutation. BioMed research international 2015 2015 545243. Kikuchi Sachiko, Kameya Shuhei, Gocho Kiyoko, El Shamieh Said, Akeo Keiichiro, Sugawara Yuko, Yamaki Kunihiko, Zeitz Christina, Audo Isabelle, Takahashi Hiros |
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 |
Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly. Journal of medical genetics 2017 11 55 (3): 189-197. Y?ld?z Bölükba?? Esra, Mumtaz Sara, Afzal Muhammad, Woehlbier Ute, Malik Sajid, Tolun Asl?h |
Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel-associated retinopathy. The Journal of clinical investigation 2018 11 128 (12): 5663-5675. Burkard Markus, Kohl Susanne, Krätzig Timm, Tanimoto Naoyuki, Brennenstuhl Christina, Bausch Anne E, Junger Katrin, Reuter Peggy, Sothilingam Vithiyanjali, Beck Susanne C, Huber Gesine, Ding Xi-Qin, Mayer Anja K, Baumann Britta, Weisschuh Nicole, Zobor Ditta, Hahn Gesa-Astrid, Kellner Ulrich, Venturelli Sascha, Becirovic Elvir, Charbel Issa Peter, Koenekoop Robert K, Rudolph Günther, Heckenlively John, Sieving Paul, Weleber Richard G, Hamel Christian, Zong Xiangang, Biel Martin, Lukowski Robert, Seeliger Matthias W, Michalakis Stylianos, Wissinger Bernd, Ruth Pet |
PHENOTYPIC CHARACTERISTICS OF ROD-CONE DYSTROPHY ASSOCIATED WITH MYO7A MUTATIONS IN A LARGE FRENCH COHORT. Retina (Philadelphia, Pa.) 2019 9 40 (8): 1603-1615. Khateb Samer, Mohand-Saïd Saddek, Nassisi Marco, Bonnet Crystel, Roux Anne-Françoise, Andrieu Camille, Antonio Aline, Condroyer Christel, Zeitz Christina, Devisme Céline, Loundon Natalie, Marlin Sandrine, Petit Christine, Bodaghi Bahram, Sahel José-Alain, Audo Isabel |
Double Hyperautofluorescent Rings in Patients with USH2A-Retinopathy. Genes 2019 11 10 (12): . Fakin Ana, Šuštar Maja, Brecelj Jelka, Bonnet Crystel, Petit Christine, Zupan Andrej, Glava? Damjan, Jarc-Vidmar Martina, Battelino Saba, Hawlina Mar |
Molecular and phenotypic investigation of a New Zealand cohort of childhood-onset retinal dystrophy. American journal of medical genetics. Part C, Seminars in medical genetics 2020 8 184 (3): 708-717. Hull Sarah, Kiray Gulunay, Chiang John Pei-Wen, Vincent Andrea |
Identification of Novel EYS Mutations by Targeted Sequencing Analysis. Genetic testing and molecular biomarkers 2020 10 24 (11): 745-753. Tian Wanli, Li Xiao, Li Ya, Wang Luyao, Yang Yeming, Sun Kuanxiang, Liu Wenjing, Zhou Bo, Lei Bo, Zhu Xianj |
PDE6C: Novel Mutations, Atypical Phenotype, and Differences Among Children and Adults. Investigative ophthalmology & visual science 2020 10 61 (12): 1. Daich Varela Malena, Ullah Ehsan, Yousaf Sairah, Brooks Brian P, Hufnagel Robert B, Huryn Laryssa |
Analysis of retinal structure and function in cone dystrophy with supernormal rod response. Documenta ophthalmologica. Advances in ophthalmology 2020 1 141 (1): 23-32. Abdelkader Ehab, Yasir Z H, Khan Abdullah M, Raddadi Osama, Khandekar Rajiv, Alateeq Nayef, Nowilaty Sawsan, AlShahrani Najah, Schatz Patr |
Genotype-Phenotype Correlations in RP1-Associated Retinal Dystrophies: A Multi-Center Cohort Study in JAPAN. Journal of clinical medicine 2021 6 10 (11): . Mizobuchi Kei, Hayashi Takaaki, Oishi Noriko, Kubota Daiki, Kameya Shuhei, Higasa Koichiro, Futami Takuma, Kondo Hiroyuki, Hosono Katsuhiro, Kurata Kentaro, Hotta Yoshihiro, Yoshitake Kazutoshi, Iwata Takeshi, Matsuura Tomokazu, Nakano Tadas |
Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian Hospitals. Frontiers in genetics 2022 7 13 914345. Maltese Paolo Enrico, Colombo Leonardo, Martella Salvatore, Rossetti Luca, El Shamieh Said, Sinibaldi Lorenzo, Passarelli Chiara, Coppè Andrea Maria, Buzzonetti Luca, Falsini Benedetto, Chiurazzi Pietro, Placidi Giorgio, Tanzi Benedetta, Bertelli Matteo, Iarossi Giancar |
Functional imaging of mitochondria in genetically confirmed retinal dystrophies using flavoprotein fluorescence. Ophthalmic genetics 2022 11 43 (6): 834-840. Russell Matthew W, Muste Justin C, Seth Kanika, Kumar Madhukar, Rich Collin A, Singh Rishi P, Traboulsi Elias |
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 |
Whole genome sequencing for inherited retinal diseases in the Korean National Project of Bio Big Data. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 2023 11 . Richul Oh, Se Joon Woo, Kwangsic J |
A Novel CEP78 Variant Presenting as Cone Dystrophy and Hearing Loss. Ophthalmic surgery, lasers & imaging retina 2024 8 1-5. Promie R Faruque, Baichun Hou, Jin Kyun Oh, Stephen H Tsa |
The Clinical and Mutational Spectrum of Bardet-Biedl Syndrome in Saudi Arabia. Genes 2024 6 15 (6): . Doaa Milibari, Sawsan R Nowilaty, Rola Ba-Abb |
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 |
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