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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 6 (of 6 Records)

Query Trace: Syndrome and SIX1[original query]
Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma. GWAS Catalog
PLoS genetics 2012 8 (4): e1002654.
Wiggs Janey L, Yaspan Brian L, Hauser Michael A, Kang Jae H, Allingham R Rand, Olson Lana M, Abdrabou Wael, Fan Bao J, Wang Dan Y, Brodeur Wendy, Budenz Donald L, Caprioli Joseph, Crenshaw Andrew, Crooks Kristy, Delbono Elizabeth, Doheny Kimberly F, Friedman David S, Gaasterland Douglas, Gaasterland Terry, Laurie Cathy, Lee Richard K, Lichter Paul R, Loomis Stephanie, Liu Yutao, Medeiros Felipe A, McCarty Cathy, Mirel Daniel, Moroi Sayoko E, Musch David C, Realini Anthony, Rozsa Frank W, Schuman Joel S, Scott Kathleen, Singh Kuldev, Stein Joshua D, Trager Edward H, Vanveldhuisen Paul, Vollrath Douglas, Wollstein Gadi, Yoneyama Sachiko, Zhang Kang, Weinreb Robert N, Ernst Jason, Kellis Manolis, Masuda Tomohiro, Zack Don, Richards Julia E, Pericak-Vance Margaret, Pasquale Louis R, Haines Jonathan
Genome-wide copy number variation analysis of a Branchio-oto-renal syndrome cohort identifies a recombination hotspot and implicates new candidate genes.
Human genetics 2013 Dec 132 (12): 1339-50.
Brophy Patrick D, Alasti Fatemeh, Darbro Benjamin W, Clarke Jason, Nishimura Carla, Cobb Bryan, Smith Richard J, Manak J Robe
Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders.
Journal of medical genetics 2021 1 59 (2): 165-169.
Calpena Eduardo, Wurmser Maud, McGowan Simon J, Atique Rodrigo, Bertola Débora R, Cunningham Michael L, Gustafson Jonas A, Johnson David, Morton Jenny E V, Passos-Bueno Maria Rita, Timberlake Andrew T, Lifton Richard P, Wall Steven A, Twigg Stephen R F, Maire Pascal, Wilkie Andrew O
The Cochlea in Branchio-Oto-Renal Syndrome: An Objective Method for the Diagnosis of Offset Cochlear Turns.
AJNR. American journal of neuroradiology 2022 9 43 (11): 1646-1652.
Juliano A F, D'Arco F, Pao J, Picariello S, Clement E, Moonis G, Robson C
Re-Examining the Cochlea in Branchio-Oto-Renal Syndrome: Genotype-Phenotype Correlation.
AJNR. American journal of neuroradiology 2022 Feb 43 (2): 309-314.
Pao J, D'Arco F, Clement E, Picariello S, Moonis G, Robson C D, Juliano A
Lack of association between SIX1/SIX6 locus polymorphisms and pseudoexfoliation syndrome in a population from the Republic of Korea.
Medicine 2023 1 101 (52): e31542.
Lee Young Chun, Lee Mee Yon, Shin Hye-You
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