Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 21 (of 21 Records) |
Query Trace: Hermansky Pudlak Syndrome 2[original query] |
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Intestinal disease in Hermansky-Pudlak syndrome: occurrence of colitis and relation to genotype. Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2006 Jan 4 (1): 73-80. Hussain Nadeem, Quezado Martha, Huizing Marjan, Geho David, White James G, Gahl William, Mannon Pet |
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 |
Newborn screening for hermansky-pudlak syndrome type 3 in Puerto Rico. Journal of pediatric hematology/oncology 2010 Aug 32 (6): 448-53. Torres-Serrant Maribel, Ramirez Sonia I, Cadilla Carmen L, Ramos-Valencia Gilberto, Santiago-Borrero Pedro |
Genome-wide association study identifies two novel regions at 11p15.5-p13 and 1p31 with major impact on acute-phase serum amyloid A.
PLoS genetics 2010 Nov 6 (11): e1001213. Marzi Carola, Albrecht Eva, Hysi Pirro G, Lagou Vasiliki, Waldenberger Melanie, Tönjes Anke, Prokopenko Inga, Heim Katharina, Blackburn Hannah, Ried Janina S, Kleber Marcus E, Mangino Massimo, Thorand Barbara, Peters Annette, Hammond Christopher J, Grallert Harald, Boehm Bernhard O, Kovacs Peter, Geistlinger Ludwig, Prokisch Holger, Winkelmann Bernhard R, Spector Tim D, Wichmann H-Erich, Stumvoll Michael, Soranzo Nicole, März Winfried, Koenig Wolfgang, Illig Thomas, Gieger Christi |
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 |
Association of the Hermansky-Pudlak syndrome type 4 (HPS4) gene variants with cognitive function in patients with schizophrenia and healthy subjects. BMC psychiatry 2013 13 (1): 276. Kuratomi Go, Saito Atsushi, Ozeki Yuji, Watanabe Takashi, Fujii Kumiko, Shimoda Kazutaka, Inukai Toshihiko, Mori Harunobu, 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 |
Predictable and precise template-free CRISPR editing of pathogenic variants. Nature 2018 11 563 (7733): 646-651. Shen Max W, Arbab Mandana, Hsu Jonathan Y, Worstell Daniel, Culbertson Sannie J, Krabbe Olga, Cassa Christopher A, Liu David R, Gifford David K, Sherwood Richard |
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 |
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 |
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 |
A novel BLOC1S5-related HPS-11 patient and zebrafish with bloc1s5 disruption. Pigment cell & melanoma research 2021 5 34 (6): 1112-1119. Zhong Zilin, Wu Zhuanbin, Zhang Jun, Chen Jianj |
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 |
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 |
Clinical exome sequencing for diagnosing severe cryptogenic liver disease in adults: A case series. Liver international : official journal of the International Association for the Study of the Liver 2022 2 42 (4): 864-870. Pelusi Serena, Ronzoni Luisa, Malvestiti Francesco, Bianco Cristiana, Marini Ilaria, D'Ambrosio Roberta, Giannotta Juri Alessandro, Soardo Giorgio, Maggioni Marco, Prati Daniele, Valenti Lu |
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 |
High-throughput microfluidic blood testing to phenotype genetically linked platelet disorders: an aid to diagnosis. Blood advances 2023 6 . Delia Irene Fernández, Isabella Provenzale, Matthias Canault, Salome Fels, Antonia Lenz, Felicia Andresen, Anne Krümpel, Arnaud Dupuis, Johan W M Heemskerk, Doris Boeckelmann, Barbara Maria Hildegard Zieg |
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 |
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