Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 10 (of 10 Records) |
Query Trace: Erythropoietic Protoporphyria[original query] |
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Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria. American journal of human genetics 2006 Jan 78 (1): 2-14. Gouya Laurent, Martin-Schmitt Caroline, Robreau Anne-Marie, Austerlitz Frederic, Da Silva Vasco, Brun Patrick, Simonin Sylvie, Lyoumi Said, Grandchamp Bernard, Beaumont Carole, Puy Herve, Deybach Jean-Charl |
Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits. American journal of human genetics 2016 Jun . Chami Nathalie, Chen Ming-Huei, Slater Andrew J, Eicher John D, Evangelou Evangelos, Tajuddin Salman M, Love-Gregory Latisha, Kacprowski Tim, Schick Ursula M, Nomura Akihiro, Giri Ayush, Lessard Samuel, Brody Jennifer A, Schurmann Claudia, Pankratz Nathan, Yanek Lisa R, Manichaikul Ani, Pazoki Raha, Mihailov Evelin, Hill W David, Raffield Laura M, Burt Amber, Bartz Traci M, Becker Diane M, Becker Lewis C, Boerwinkle Eric, Bork-Jensen Jette, Bottinger Erwin P, O'Donoghue Michelle L, Crosslin David R, de Denus Simon, Dubé Marie-Pierre, Elliott Paul, Engström Gunnar, Evans Michele K, Floyd James S, Fornage Myriam, Gao He, Greinacher Andreas, Gudnason Vilmundur, Hansen Torben, Harris Tamara B, Hayward Caroline, Hernesniemi Jussi, Highland Heather M, Hirschhorn Joel N, Hofman Albert, Irvin Marguerite R, Kähönen Mika, Lange Ethan, Launer Lenore J, Lehtimäki Terho, Li Jin, Liewald David C M, Linneberg Allan, Liu Yongmei, Lu Yingchang, Lyytikäinen Leo-Pekka, Mägi Reedik, Mathias Rasika A, Melander Olle, Metspalu Andres, Mononen Nina, Nalls Mike A, Nickerson Deborah A, Nikus Kjell, O'Donnell Chris J, Orho-Melander Marju, Pedersen Oluf, Petersmann Astrid, Polfus Linda, Psaty Bruce M, Raitakari Olli T, Raitoharju Emma, Richard Melissa, Rice Kenneth M, Rivadeneira Fernando, Rotter Jerome I, Schmidt Frank, Smith Albert Vernon, Starr John M, Taylor Kent D, Teumer Alexander, Thuesen Betina H, Torstenson Eric S, Tracy Russell P, Tzoulaki Ioanna, Zakai Neil A, Vacchi-Suzzi Caterina, van Duijn Cornelia M, van Rooij Frank J A, Cushman Mary, Deary Ian J, Velez Edwards Digna R, Vergnaud Anne-Claire, Wallentin Lars, Waterworth Dawn M, White Harvey D, Wilson James G, Zonderman Alan B, Kathiresan Sekar, Grarup Niels, Esko Tõnu, Loos Ruth J F, Lange Leslie A, Faraday Nauder, Abumrad Nada A, Edwards Todd L, Ganesh Santhi K, Auer Paul L, Johnson Andrew D, Reiner Alexander P, Lettre Guillau |
A Novel Mutation in the FECH Gene in a Czech Family with Erythropoietic Protoporphyria and a Population Study of IVS3-48C Variant Contributing to the Disease. Folia biologica 2015 61 (6): 227-32. Farrag M S, Ku?erová J, Šlachtová L, Šeda O, Šperl J, Martásek |
Ferrochelatase gene mutation in Singapore and a novel frame-shift mutation in an Asian boy with erythropoietic protoporphyria. International journal of dermatology 2017 Mar 56 (3): 272-276. Alagappan Uma, Pramono Zacharias A D, Chong Wei-She |
Digital PCR (dPCR) analysis reveals that the homozygous c.315-48T>C variant in the FECH gene might cause erythropoietic protoporphyria (EPP). Molecular genetics and metabolism 2018 6 124 (4): 287-296. Brancaleoni Valentina, Granata Francesca, Missineo Pasquale, Fustinoni Silvia, Graziadei Giovanna, Di Pierro Ele |
Targeted resequencing of FECH locus reveals that a novel deep intronic pathogenic variant and eQTLs may cause erythropoietic protoporphyria (EPP) through a methylation-dependent mechanism. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Jul . Chiara Matteo, Primon Ilaria, Tarantini Letizia, Agnelli Luca, Brancaleoni Valentina, Granata Francesca, Bollati Valentina, Di Pierro Ele |
Evidence in the UK Biobank for the underdiagnosis of erythropoietic protoporphyria. Genetics in medicine : official journal of the American College of Medical Genetics 2020 9 23 (1): 140-148. Dickey Amy K, Quick Corbin, Ducamp Sarah, Zhu Zhaozhong, Feng Yen-Chen A, Naik Hetanshi, Balwani Manisha, Anderson Karl E, Lin Xihong, Phillips John E, Rebeiz Lina, Bonkovsky Herbert L, McGuire Brendan M, Wang Bruce, Chasman Daniel I, Smoller Jordan W, Fleming Mark D, Christiani David |
Longitudinal Analysis of Erythrocyte and Plasma Protoporphyrin Levels in Patients with Protoporphyria. The journal of applied laboratory medicine 2021 2 3 (2): 213-221. Gou Eric, Weng Cindy, Greene Tom, Anderson Karl E, Phillips John |
ABCB6 polymorphisms are not overly represented in patients with porphyria. Blood advances 2021 11 6 (3): 760-766. Farrell Colin P, Nicolas Gäel, Desnick Robert J, Parker Charles J, Lamoril Jerome, Gouya Laurent, Karim Zoubida, Tchernitchko Dimitri, Chan Brenden, Puy Herve, Phillips John |
When the diagnosis is written in the DNA: a case of erythropoietic protoporphyria in a patient with a chromosome-18 deletion. Dermatology reports 2024 7 16 (2): 9784. Sara Rovaris, Giuseppe La Rosa, Sara Mezzana, Francesco Tonon, Luigi Mori, Eugenio Monti, Giuseppe Mazzeo, Piergiacomo Calzavara-Pinton, Mariachiara Ari |
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