Human Genome Epidemiology Literature Finder
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Records 1 - 16 (of 16 Records) |
| Query Trace: Disease and GALC[original query] |
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| GALC deletions increase the risk of primary open-angle glaucoma: the role of Mendelian variants in complex disease. PloS one 2011 6 (11): e27134. Liu Yutao, Gibson Jason, Wheeler Joshua, Kwee Lydia Coulter, Santiago-Turla Cecile M, Akafo Stephen K, Lichter Paul R, Gaasterland Douglas E, Moroi Sayoko E, Challa Pratap, Herndon Leon W, Girkin Christopher A, Budenz Donald L, Richards Julia E, Allingham R Rand, Hauser Michael |
IREB2 and GALC are associated with pulmonary artery enlargement in chronic obstructive pulmonary disease.
American journal of respiratory cell and molecular biology 2015 Mar 52 (3): 365-76. Lee Jin Hwa, Cho Michael H, Hersh Craig P, McDonald Merry-Lynn N, Wells J Michael, Dransfield Mark T, Bowler Russell P, Lynch David A, Lomas David A, Crapo James D, Silverman Edwin K, |
| Measurement of psychosine in dried blood spots--a possible improvement to newborn screening programs for Krabbe disease. Journal of inherited metabolic disease 2015 Sep 38 (5): 923-9. Turgeon Coleman T, Orsini Joseph J, Sanders Karen A, Magera Mark J, Langan Thomas J, Escolar Maria L, Duffner Patricia, Oglesbee Devin, Gavrilov Dimitar, Tortorelli Silvia, Rinaldo Piero, Raymond Kimiyo, Matern Dietri |
| Neuroradiological, neurophysiological and molecular findings in infantile Krabbe disease: two case reports. Balkan journal of medical genetics : BJMG 2016 Jul 19 (1): 85-90. Vargiami E, Papathanasiou E, Batzios S, Kyriazi M, Dimitriou E, Anastasiou A, Michelakakis H, Giese A-K, Zafeiriou D |
| Newborn screening for Krabbe disease in New York State: the first eight years' experience. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Mar 18 (3): 239-48. Orsini Joseph J, Kay Denise M, Saavedra-Matiz Carlos A, Wenger David A, Duffner Patricia K, Erbe Richard W, Biski Chad, Martin Monica, Krein Lea M, Nichols Matthew, Kurtzberg Joanne, Escolar Maria L, Adams Darius J, Arnold Georgianne L, Iglesias Alejandro, Galvin-Parton Patricia, Kronn David F, Kwon Jennifer M, Levy Paul A, Pellegrino Joan E, Shur Natasha, Wasserstein Melissa P, Caggana Michele, |
| Genomewide association study identifies GALC as susceptibility gene for mucous membrane pemphigoid. Experimental dermatology 2017 Nov . Sadik Christian D, Bischof Julia, van Beek Nina, Dieterich Anabelle, Benoit Sandrine, Sárdy Miklós, Worm Margitta, Meller Stephan, Gläser Regine, Zillikens Detlef, Homey Bernhard, Setterfield Jane, Minassian Darwin, Schmidt Enno, Dart John, , , Ibrahim Saleh |
| Analysis of age-related changes in psychosine metabolism in the human brain. PloS one 2018 13 (2): e0193438. Marshall Michael S, Jakubauskas Benas, Bogue Wil, Stoskute Monika, Hauck Zane, Rue Emily, Nichols Matthew, DiAntonio Lisa L, van Breemen Richard B, Kordower Jeffrey H, Saavedra-Matiz Carlos A, Bongarzone Ernesto |
| [Clinical and genetic analysis of a patient with Krabbe disease presented as peripheral neuropathy]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2019 8 36 (8): 821-825. Wang Wei, Qin Yali, Wang Renbin, Zhang Weihe, Zhang Linwei, Cui Lei, Jin Ming, Jiao Yujuan, Jiao Jingso |
| Genotype and phenotype classification of 29 patients affected by Krabbe disease. JIMD reports 2019 6 46 (1): 35-45. Madsen Anna M H, Wibrand Flemming, Lund Allan M, Ek Jakob, Dunø Morten, Østergaard Elseb |
| Association of GALC, ZNF184, IL1R2 and ELOVL7 With Parkinson's Disease in Southern Chinese. Frontiers in aging neuroscience 2019 1 10 402. Li Gen, Cui Shishuang, Du Juanjuan, Liu Jin, Zhang Pingchen, Fu Yang, He Yixi, Zhou Haiyan, Ma Jianfang, Chen Sheng |
| Elevated Leukodystrophy Incidence Predicted From Genomics Databases. Pediatric neurology 2020 9 111 66-69. Soderholm Haille E, Chapin Alexander B, Bayrak-Toydemir Pinar, Bonkowsky Joshua |
| Adult-onset Krabbe disease due to a homozygous GALC mutation without abnormal signals on an MRI in a consanguineous family: A case report. Molecular genetics & genomic medicine 2020 7 8 (9): e1407. Xia Zhou, Wenwen Yin, Xianfeng Yu, Panpan Hu, Xiaoqun Zhu, Zhongwu S |
| Meta-analysis of whole-exome sequencing data from two independent cohorts finds no evidence for rare variant enrichment in Parkinson disease associated loci. PloS one 2020 10 15 (10): e0239824. Gaare Johannes Jernqvist, Nido Gonzalo, Dölle Christian, Sztromwasser Pawe?, Alves Guido, Tysnes Ole-Bjørn, Haugarvoll Kristoffer, Tzoulis Charalamp |
| Clinical and molecular findings in 6 Turkish cases with Krabbe disease. The Turkish journal of pediatrics 2022 3 64 (1): 69-78. Aslanger Ayça Dilruba, ?engenç Esma, Kölemen Ay?e Betül, Demiral Emine, Alkan Alpay, ??can Ak?n, Ye?il Göz |
| Determination of Carrier Frequency of Actionable Pathogenic Variants in Autosomal Recessive Genetic Diseases in the Turkish Cypriot Population. Genes 2023 10 14 (10): . Aziz Suat Gunsel, Mahmut Cerkez Ergoren, Hatice Kemal, Haniyeh Rahbar Kafshboran, Levent Cerit, Ayla Turgay, Hamza Duy |
| The Effect of p.G2019S Mutation in the LRRK2 Gene on the Activity of Lysosomal Hydrolases and the Clinical Features of Parkinson's Disease Associated with p.N370S Mutation in the GBA1 Gene. Journal of integrative neuroscience 2024 1 23 (1): 16. Tatiana S Usenko, Alla Timofeeva, Mariia Beletskaia, Katerina Basharova, Galina Baydakova, Anastasia Bezrukova, Maria Grunina, Anton Emelyanov, Irina Miliukhina, Ekaterina Zakharova, Sofya Pcheli |
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