Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 30 (of 70 Records) |
Query Trace: Oculocutaneous Albinism[original query] |
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Identification of two Chinese oculocutaneous albinism type 6 patients and mutation updates of the SLC24A5 gene. The Journal of dermatology 2019 Sep . Zhang Yunlan, Zhang Yingzi, Liu Teng, Bai Dayong, Yang Xiumin, Li Wei, Wei Aih |
Germline variants in oculocutaneous albinism genes and predisposition to familial cutaneous melanoma. Pigment cell & melanoma research 2019 Jun . Nathan Vaishnavi, Johansson Peter A, Palmer Jane M, Howlie Madeleine, Hamilton Hayley R, Wadt Karin, Jönsson Göran, Brooks Kelly M, Pritchard Antonia L, Hayward Nicholas |
SLC45A2 protein stability and regulation of melanosome pH determine melanocyte pigmentation. Molecular biology of the cell 2020 9 31 (24): 2687-2702. Le Linh, Escobar Iliana E, Ho Tina, Lefkovith Ariel J, Latteri Emily, Haltaufderhyde Kirk D, Dennis Megan K, Plowright Lynn, Sviderskaya Elena V, Bennett Dorothy C, Oancea Elena, Marks Michael |
[Spectrum of pathological genetic variants among 405 Chinese pedigrees affected with oculocutaneous albinism]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 7 37 (7): 725-730. Wang Conghui, Chen Chen, Zhao Xuechao, Zhao Ganye, Liu Lina, Kong Xiangdo |
Genetic variants and mutational spectrum of Chinese Hermansky-Pudlak syndrome patients. Pigment cell & melanoma research 2020 Jul . Liu Teng, Yuan Yefeng, Bai Dayong, Qi Zhan, Yang Lin, Zhang Tianjiao, Yang Xiumin, Li Wei, Wei Aih |
Mapping the TYR gene reveals novel and previously reported variants in Eastern Indian patients highlighting preponderance of the same changes in multiple unrelated ethnicities. Annals of human genetics 2020 3 84 (3): 303-312. Ganguly Kausik, Dutta Tithi, Saha Arpan, Sarkar Devroop, Sil Asim, Ray Kunal, Sengupta Main |
Dopachrome tautomerase variants in patients with oculocutaneous albinism. Genetics in medicine : official journal of the American College of Medical Genetics 2020 10 23 (3): 479-487. Pennamen Perrine, Tingaud-Sequeira Angèle, Gazova Iveta, Keighren Margaret, McKie Lisa, Marlin Sandrine, Gherbi Halem Souad, Kaplan Josseline, Delevoye Cédric, Lacombe Didier, Plaisant Claudio, Michaud Vincent, Lasseaux Eulalie, Javerzat Sophie, Jackson Ian, Arveiler Beno |
Effects of Cocoa Genotypes on Coat Color, Platelets and Coagulation Parameters in French Bulldogs. Genes 2021 8 12 (7): . Laukner Anna, Truchet Laura, Manukjan Georgi, Schulze Harald, Langbein-Detsch Ines, Mueller Elisabeth, Leeb Tosso, Kehl Alexand |
Clinical albinism score, presence of nystagmus and optic nerves defects are correlated with visual outcome in patients with oculocutaneous albinism. Ophthalmic genetics 2021 7 42 (5): 539-552. Dumitrescu Alina V, Tran Johnny, Pfeifer Wanda, Bhattarai Sajag V, Kemerley Andrew, Dunn Taylor V, Wang Kai, Scheetz Tod E, Drack Arle |
A custom capture sequence approach for oculocutaneous albinism identifies structural variant alleles at the OCA2 locus. Human mutation 2021 7 42 (10): 1239-1253. Loftus Stacie K, Lundh Linnea, Watkins-Chow Dawn E, Baxter Laura L, Pairo-Castineira Erola, Nisc Comparative Sequencing Program , Jackson Ian J, Oetting William S, Pavan William J, Adams David |
Identification of OCA2 as a novel locus for the co-morbidity of asthma-plus-eczema.
Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology 2021 Jun . Margaritte-Jeannin Patricia, Budu-Aggrey Ashley, Ege Markus, Madore Anne-Marie, Linhard Christophe, Mohamdi Hamida, von Mutius Erika, Granell Raquel, Demenais Florence, Laprise Catherine, Bouzigon Emmanuelle, Dizier Marie-Hélè |
[Non-invasive prenatal detection of ocutaneous albinism type I based on cfDNA barcode-enabled single-molecule test]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021 4 38 (4): 317-320. Wang Conghui, Chen Chen, Wang Xiaofeng, Zhao Xuechao, Zhao Ganye, Liu Li'na, Kong Xiangdo |
Hermansky-Pudlak syndrome pulmonary fibrosis: a rare inherited interstitial lung disease. European respiratory review : an official journal of the European Respiratory Society 2021 2 30 (159): . Yokoyama Tadafumi, Gochuico Bernadette |
Genetic Variability in Slovenian Cohort of Patients with Oculocutaneous Albinism. Acta chimica Slovenica 2021 12 68 (3): 683-692. Hovnik Tinka, Debeljak Maruša, Tekav?i? Pompe Manca, Bertok Sara, Battelino Tadej, Stirn Kranjc Branka, Trebušak Podkrajšek Katari |
Molecular genetic characterization of Congolese patients with oculocutaneous albinism. European journal of medical genetics 2022 9 65 (11): 104611. Laetitia Mavinga Mpola, Veronique Kakiese, Mamy Ngole Zita, Cathy Songo Mbodo, Aimé Lumaka, Race Valerie, Prosper Lukusa Tshilobo, Devriendt Koenra |
Oculocutaneous albinism and bleeding diathesis due to a novel deletion in the HPS3 gene. Frontiers in genetics 2022 9 13 936064. Marek-Yagel Dina, Abudi-Sinreich Shachar, Macarov Michal, Veber Alvit, Shalva Nechama, Philosoph Amit Mary, Pode-Shakked Ben, Malicdan May Christine V, Anikster Ya |
Identification of 12 OCA Cases in Chinese Population and Two Novel Variants. Frontiers in genetics 2022 8 13 926511. Zhong Zilin, Zhou Zheng, Chen Jianjun, Zhang J |
Amelanotic/hypopigmented melanoma in a sibship with oculocutaneous albinism. The Journal of dermatology 2022 7 49 (11): 1183-1187. Maas Ellie J, Wallingford Courtney K, McGuire Jessica J, Rutjes Chantal, Smit Darren J, Betz-Stablein Brigid, Sturm Richard A, Soyer H Peter, McInerney-Leo Aideen |
Abnormal foveal morphology in carriers of oculocutaneous albinism. The British journal of ophthalmology 2022 4 . Kuht Helen J, Thomas Mervyn G, McLean Rebecca J, Sheth Viral, Proudlock Frank A, Gottlob Ire |
NGS-based targeted sequencing identified two novel variants in Southwestern Chinese families with oculocutaneous albinism. BMC genomics 2022 4 23 (1): 332. Xiao Yuanyuan, Zhou Cong, Xie Hanbing, Huang Shuang, Wang Jing, Liu Shanli |
Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study. Ophthalmology 2022 2 129 (6): 708-718. Kuht Helen J, Maconachie Gail D E, Han Jinu, Kessel Line, van Genderen Maria M, McLean Rebecca J, Hisaund Michael, Tu Zhanhan, Hertle Richard W, Gronskov Karen, Bai Dayong, Wei Aihua, Li Wei, Jiao Yonghong, Smirnov Vasily, Choi Jae-Hwan, Tobin Martin D, Sheth Viral, Purohit Ravi, Dawar Basu, Girach Ayesha, Strul Sasha, May Laura, Chen Fred K, Heath Jeffery Rachael C, Aamir Abdullah, Sano Ronaldo, Jin Jing, Brooks Brian P, Kohl Susanne, Arveiler Benoit, Montoliu Lluis, Engle Elizabeth C, Proudlock Frank A, Nishad Garima, Pani Prateek, Varma Girish, Gottlob Irene, Thomas Mervyn |
[Genetic testing and prenatal diagnosis for thirteen Chinese pedigrees affected with oculocutaneous albinism]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 1 39 (2): 143-147. Yang Yujiao, Mao Bin, Wang Qiong, Lie Shubing, Zhang Ruixuan, Zhao Xiu |
Ophthalmologic Phenotype-Genotype Correlations in Patients With Oculocutaneous Albinism Followed in a Reference Center. Investigative ophthalmology & visual science 2023 9 64 (12): 26. Paul-Henri Seguy, Jean-François Korobelnik, Marie-Noëlle Delyfer, Vincent Michaud, Benoit Arveiler, Eulalie Lasseaux, Sarra Gattoussi, Marie-Bénédicte Rougier, Kilian Trin, Fanny Morice-Picard, Nathalie Ghomashchi, Valentine Cos |
Mutational Analysis of TYR, OCA2, SLC45A2, and TYRP1 Genes Identifies Novel and Reported Mutations in Chinese Families with Oculocutaneous Albinism. Alternative therapies in health and medicine 2023 7 . Bei Xu, Xiaofei Chen, Hongyi |
Haplotype-based analysis resolves missing heritability in oculocutaneous albinism type 1B. American journal of human genetics 2023 6 . Stacie K Loftus, Meredith F Gillis, Linnea Lundh, Laura L Baxter, Julia C Wedel, Dawn E Watkins-Chow, Frank X Donovan, , Yuri V Sergeev, William S Oetting, William J Pavan, David R Ada |
Oculocutaneous albinism: the neurological, behavioral, and neuro-ophthalmological perspective. European journal of pediatrics 2023 4 . Galli Jessica, Loi Erika, Dusi Laura, Pasini Nadia, Rossi Andrea, Scaglioni Vera, Mauri Lucia, Fazzi Eli |
TYR mutation in a Chinese population with oculocutaneous albinism: Molecular characteristics and ophthalmic manifestations. Experimental eye research 2023 12 239 109761. Chonglin Chen, Jun Li, Bingqi Wang, Yinghuan Wang, Xinping |
Diagnostic Yield of Genetic Testing for Ocular and Oculocutaneous Albinism in a Diverse United States Pediatric Population. Genes 2023 1 14 (1): . Chan Kyle S, Bohnsack Brenda L, Ing Alexander, Drackley Andy, Castelluccio Valerie, Zhang Kevin X, Ralay-Ranaivo Hanta, Rossen Jennifer |
Identifying genetic defects in oculocutaneous albinism patients of West Bengal, Eastern India. Molecular biology reports 2024 7 51 (1): 818. Tithi Dutta, Kausik Ganguly, Arpan Saha, Asim Sil, Kunal Ray, Mainak Sengup |
Genetic Linkage between CAPN5 and TYR Variants in the Context of Albinism and Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy Absence: A Case Report. International journal of molecular sciences 2024 6 25 (12): . Mirjana Bjeloš, Ana ?uri?, Mladen Buši?, Benedict Rak, Biljana Kuzmanovi? Elabj |
- Page last reviewed:Feb 1, 2024
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