Human Genome Epidemiology Literature Finder
Records 1 - 9 (of 9 Records) |
Query Trace: Syndrome and HPS1[original query] |
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Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico. The Journal of investigative dermatology 2006 Jan 126 (1): 85-90. Santiago Borrero Pedro J, Rodríguez-Pérez Yolanda, Renta Jessicca Y, Izquierdo Natalio J, Del Fierro Laura, Muñoz Daniel, Molina Norma López, Ramírez Sonia, Pagán-Mercado Glorivee, Ortíz Idith, Rivera-Caragol Enid, Spritz Richard A, Cadilla Carmen |
An association study of the Hermansky-Pudlak syndrome type 4 gene in schizophrenic patients. Psychiatric genetics 2013 Aug 23 (4): 163-73. Saito Atsushi, Kuratomi Go, Ito Chihiro, Matsuoka Hiroo, Suzuki Tamio, Ozeki Yuji, Watanabe Takashi, Fujii Kumiko, Shimoda Kazutaka, Fukushima Yasutsugu, Inukai Toshihiko, Ohmori Kenichi, Akiyama Kazufu |
NGS-based 100-gene panel of hypopigmentation identifies mutations in Chinese Hermansky-Pudlak syndrome patients. Pigment cell & melanoma research 2016 Sep . Wei Aihua, Yuan Yefeng, Bai Dayong, Ma Jing, Hao Zhenhua, Zhang Yingzi, Yu Jiaying, Zhou Zhiyong, Yang Lin, Yang Xiumin, Li Li, Li W |
Instability of BLOC-2 and BLOC-3 in Chinese patients with Hermansky-Pudlak syndrome. Pigment cell & melanoma research 2018 11 32 (3): 373-380. Wei Aihua, Yuan Yefeng, Qi Zhan, Liu Teng, Bai Dayong, Zhang Yingzi, Yu Jiaying, Yang Lin, Yang Xiumin, Li W |
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 |
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 |
GWAS Identifies a Region Containing the SALL1 Gene in Variation of Pigmentation Intensity Within the Chestnut Coat Color of Horses. The Journal of heredity 2021 Aug . Hammons Vada, Ribeiro Leticia, Munyard Kylie, Sadeghi Raheleh, Miller Donald, Antczak Douglas, Brooks Samantha |
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 |
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 |
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