Human Genome Epidemiology Literature Finder
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Records 1 - 14 (of 14 Records) |
| Query Trace: Hypopigmentation and TYR[original query] |
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| Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4. Human mutation 2004 1 23 (2): 106-110. Rundshagen Uta, Zühlke Christine, Opitz Sven, Schwinger Eberhard, Käsmann-Kellner Barba |
| A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism. The Journal of investigative dermatology 2010 Mar 130 (3): 716-24. Wei Aihua, Wang Yu, Long Yan, Wang Yi, Guo Xiaoli, Zhou Zhiyong, Zhu Wei, Liu Juntao, Bian Xuming, Lian Shi, Li W |
| Screening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism. Molecular vision 2011 17 . Preising MN, Forster H, Gonser M, Lorenz B |
| Clinical evaluation and molecular screening of a large consecutive series of albino patients. Journal of human genetics 2016 Oct . Mauri Lucia, Manfredini Emanuela, Del Longo Alessandra, Veniani Emanuela, Scarcello Manuela, Terrana Roberta, Radaelli Adriano Egidio, Calò Donata, Mingoia Giuseppe, Rossetti Antonella, Marsico Giovanni, Mazza Marco, Gesu Giovanni Pietro, Cristina Patrosso Maria, Penco Silvana, Piozzi Elena, Primignani Pao |
| Lessons of a day hospital: Comprehensive assessment of patients with albinism in a European setting. Pigment cell & melanoma research 2017 10 31 (2): 318-329. Marti Aurélie, Lasseaux Eulalie, Ezzedine Khaled, Léauté-Labrèze Christine, Boralevi Franck, Paya Clément, Coste Valentine, Deroissart Vincent, Arveiler Benoit, Taieb Alain, Morice-Picard Fan |
| Identification of a Homozygous Missense Mutation in the TYR Gene in a Chinese Family with OCA1. Current medical science 2018 10 38 (5): 932-936. Wang Yan, Zhou Yi-Fan, Shen Na, Zhu Yao-Wu, Tan Kun, Wang Xio |
| Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations. BMC medical genetics 2019 Jun 20 (1): 106. Yang Qi, Yi Sheng, Li Mengting, Xie Bobo, Luo Jinsi, Wang Jin, Rong Xiuliang, Zhang Qinle, Qin Zailong, Hang Limei, Feng Shihan, Fan X |
| Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising. Orphanet journal of rare diseases 2019 2 14 (1): 52. Power Bradley, Ferreira Carlos R, Chen Dong, Zein Wadih M, O'Brien Kevin J, Introne Wendy J, Stephen Joshi, Gahl William A, Huizing Marjan, Malicdan May Christine V, Adams David R, Gochuico Bernadette |
| 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 |
| 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 |
| The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism. Nature communications 2024 9 15 (1): 8436. David J Green, Vincent Michaud, Eulalie Lasseaux, Claudio Plaisant, , Tomas Fitzgerald, Ewan Birney, Graeme C Black, Benoît Arveiler, Panagiotis I Sergouniot |
| Uncovering molecular mechanisms for amelanotic/hypopigmented primary cutaneous melanoma. The British journal of dermatology 2024 8 . Richard A Sturm, Darren J Smit, David L Duffy, Catriona McLean, Richard A Scolyer, Grant A McArthur, Anthony T Papenfuss, Mitchell S Stark, H Peter Soyer, Victoria J M |
| 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 |
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