Human Genome Epidemiology Literature Finder
Records 1 - 23 (of 23 Records) |
Query Trace: LOXHD1[original query] |
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[TGC Repeats in Intron 2 of the TCF4 Gene have a Good Predictive Power Regarding to Fuchs Endothelial Corneal Dystrophy]. Klinische Monatsblatter fur Augenheilkunde 2015 Aug . Luther M, Grünauer-Kloevekorn C, Weidle E, Passarge E, Rupprecht A, Hoffmann K, Foja |
Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss. PloS one 2015 10 (11): e0142154. Atik Tahir, Onay Huseyin, Aykut Ayca, Bademci Guney, Kirazli Tayfun, Tekin Mustafa, Ozkinay Fer |
Fine-Mapping of 18q21.1 Locus Identifies Single Nucleotide Polymorphisms Associated with Nonsyndromic Cleft Lip with or without Cleft Palate. Frontiers in genetics 2016 7 88. Mitra Amit K, Stessman Holly A F, Schaefer Robert J, Wang Wen, Myers Chad L, Van Ness Brian G, Beiraghi Sora |
Clinical characteristics of a Japanese family with hearing loss accompanied by compound heterozygous mutations in LOXHD1. Auris, nasus, larynx 2016 Mar . Minami Shujiro B, Mutai Hideki, Namba Kazunori, Sakamoto Hirozazu, Matsunaga Tats |
Carrier re-sequencing reveals rare but benign variants in recessive deafness genes. Scientific reports 2017 9 7 (1): 11355. He Longxia, Pang Xiuhong, Chen Penghui, Wang Xiaowen, Yang Tao, Wu H |
Independent Maternal and Fetal Genetic Effects on Midgestational Circulating Levels of Environmental Pollutants.
G3 (Bethesda, Md.) 2017 Feb . Traglia Michela, Croen Lisa A, Lyall Kristen, Windham Gayle C, Kharrazi Marty, DeLorenze Gerald N, Torres Anthony R, Weiss Lauren |
Comprehensive molecular biomarker identification in breast cancer brain metastases. Journal of translational medicine 2017 12 15 (1): 269. Schulten Hans-Juergen, Bangash Mohammed, Karim Sajjad, Dallol Ashraf, Hussein Deema, Merdad Adnan, Al-Thoubaity Fatma K, Al-Maghrabi Jaudah, Jamal Awatif, Al-Ghamdi Fahad, Choudhry Hani, Baeesa Saleh S, Chaudhary Adeel G, Al-Qahtani Mohammed |
STRC Deletion is a Frequent Cause of Slight to Moderate Congenital Hearing Impairment in the Czech Republic. Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2017 10 38 (10): e393-e400. Plevova Pavlina, Paprskarova Martina, Tvrda Petra, Turska Petra, Slavkovsky Rastislav, Mrazkova E |
CTG18.1 Expansion is the Best Classifier of Late-Onset Fuchs' Corneal Dystrophy Among 10 Biomarkers in a Cohort From the European Part of Russia. Investigative ophthalmology & visual science 2018 Sep 59 (11): 4748-4754. Skorodumova Liubov O, Belodedova Alexandra V, Antonova Olga P, Sharova Elena I, Akopian Tatiana A, Selezneva Oksana V, Kostryukova Elena S, Malyugin Boris |
Genetic Etiology Study of Ten Chinese Families with Nonsyndromic Hearing Loss. Neural plasticity 2018 8 2018 4920980. Hu Songqun, Sun Feifei, Zhang Jie, Tang Yan, Qiu Jinhong, Wang Zhixia, Zhang Lupi |
Analysis of candidate genes ZEB1 and LOXHD1 in late-onset Fuchs' endothelial corneal dystrophy in an Indian cohort. Ophthalmic genetics 2018 May 1-7. Rao Bhavna S, Ansar Samdani, Arokiasamy Tharigopala, Sudhir Rachapalli R, Umashankar Vetrivel, Rajagopal Rama, Soumittra Nagasa |
Association of rs613872 and Trinucleotide Repeat Expansion in the TCF4 Gene of German Patients With Fuchs Endothelial Corneal Dystrophy. Cornea 2019 Apr . Okumura Naoki, Hayashi Ryousuke, Nakano Masakazu, Tashiro Kei, Yoshii Kengo, Aleff Ross, Butz Malinda, Highsmith Edward W, Wieben Eric D, Fautsch Michael P, Baratz Keith H, Komori Yuya, Ueda Emi, Nakahara Makiko, Weller Julia, Tourtas Theofilos, Schlötzer-Schrehardt Ursula, Kruse Friedrich, Koizumi Nori |
A novel LOXHD1 variant in a Chinese couple with hearing loss. The Journal of international medical research 2019 11 47 (12): 6082-6090. Zhang Chuan, Hao Shengju, Liu Yali, Zhou Bingbo, Liu Furong, Zheng Lei, Ma Panpan, Liu Qing, Lin Xiaojuan, Yan Yousheng, Zhang Qingh |
Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations. Frontiers in genetics 2019 1 9 681. Morgan Anna, Lenarduzzi Stefania, Cappellani Stefania, Pecile Vanna, Morgutti Marcello, Orzan Eva, Ghiselli Sara, Ambrosetti Umberto, Brumat Marco, Gajendrarao Poornima, La Bianca Martina, Faletra Flavio, Grosso Enrico, Sirchia Fabio, Sensi Alberto, Graziano Claudio, Seri Marco, Gasparini Paolo, Girotto Giorg |
The mutation frequencies of GJB2, GJB3, SLC26A4 and MT-RNR1 of patients with severe to profound sensorineural hearing loss in northwest China. International journal of pediatric otorhinolaryngology 2020 May 136 110143. Liu Xiao-Wen, Wang Jian-Chao, Wang Su-Yang, Li Shu-Juan, Zhu Yi-Ming, Ding Wen-Juan, Xu Chen-Yang, Duan Lei, Xu Bai-Cheng, Guo Yu-F |
Five Novel Mutations in LOXHD1 Gene Were Identified to Cause Autosomal Recessive Nonsyndromic Hearing Loss in Four Chinese Families. BioMed research international 2020 3 2020 1685974. Bai Xiaohui, Zhang Chi, Zhang Fengguo, Xiao Yun, Jin Yu, Wang Haibo, Xu L |
The genetic architecture of age-related hearing impairment revealed by genome-wide association analysis.
Communications biology 2021 6 4 (1): 706. Ivarsdottir Erna V, Holm Hilma, Benonisdottir Stefania, Olafsdottir Thorhildur, Sveinbjornsson Gardar, Thorleifsson Gudmar, Eggertsson Hannes P, Halldorsson Gisli H, Hjorleifsson Kristjan E, Melsted Pall, Gylfason Arnaldur, Arnadottir Gudny A, Oddsson Asmundur, Jensson Brynjar O, Jonasdottir Aslaug, Jonasdottir Adalbjorg, Juliusdottir Thorhildur, Stefansdottir Lilja, Tragante Vinicius, Halldorsson Bjarni V, Petersen Hannes, Thorgeirsson Gudmundur, Thorsteinsdottir Unnur, Sulem Patrick, Hinriksdottir Ingibjorg, Jonsdottir Ingileif, Gudbjartsson Daniel F, Stefansson Ka |
Recessive LOXHD1 variants cause a prelingual down-sloping hearing loss: genotype-phenotype correlation and three additional children with novel variants. International journal of pediatric otorhinolaryngology 2021 4 145 110715. Yu Sha, Chen Wen-Xia, Zhang Yun-Fei, Chen Chao, Ni Yihua, Duan Bo, Wang Huijun, Xu Zheng-M |
Rising of LOXHD1 as a signature causative gene of down-sloping hearing loss in people in their teens and 20s. Journal of medical genetics 2021 3 59 (5): 470-480. Kim Bong Jik, Jeon Hyoung Won, Jeon Woosung, Han Jin Hee, Oh Jayoung, Yi Nayoung, Kim Min Young, Kim Minah, Kim Justin Namju, Kim Bo Hye, Hyon Joon Young, Kim Dongsup, Koo Ja-Won, Oh Doo-Yi, Choi Byung Yo |
Association of Single Nucleotide Polymorphisms on Locus 18q21.1 in the Etiology of Nonsyndromic Cleft Lip Palate (NSCLP) in Indian Multiplex Families. Global medical genetics 2021 3 8 (1): 24-31. Neela Praveen Kumar, Reddy Gosla Srinivas, Husain Akhter, Mohan Vasavi, Thumoju Sravya, Bv Rajeshwa |
Contribution of nuclear and mitochondrial gene mutations in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome. Journal of neurology 2021 1 268 (6): 2192-2207. Chakrabarty Sanjiban, Govindaraj Periyasamy, Sankaran Bindu Parayil, Nagappa Madhu, Kabekkodu Shama Prasada, Jayaram Pradyumna, Mallya Sandeep, Deepha Sekar, Ponmalar J N Jessiena, Arivinda Hanumanthapura R, Meena Angamuthu Kanikannan, Jha Rajan Kumar, Sinha Sanjib, Gayathri Narayanappa, Taly Arun B, Thangaraj Kumarasamy, Satyamoorthy Kapaet |
Genetic Analysis of the LOXHD1 Gene in Chinese Patients With Non-Syndromic Hearing Loss. Frontiers in genetics 2022 6 13 825082. Wang Wei-Qian, Gao Xue, Huang Sha-Sha, Kang Dong-Yang, Xu Jin-Cao, Yang Kun, Han Ming-Yu, Zhang Xin, Yang Su-Yan, Yuan Yong-Yi, Dai |
Canine Somatic Mutations from Whole-Exome Sequencing of B-Cell Lymphomas in Six Canine Breeds-A Preliminary Study. Animals : an open access journal from MDPI 2023 9 13 (18): . Sungryong Kim, Namphil Kim, Hyo-Min Kang, Hye-Jin Jang, Amos Chungwon Lee, Ki-Jeong |
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- Page last updated:Apr 29, 2024
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