Human Genome Epidemiology Literature Finder
Records 1 - 24 (of 24 Records) |
Query Trace: OTX2[original query] |
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Polymorphisms in the homeobox gene OTX2 may be a risk factor for bipolar disorder. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2007 Dec 144B (8): 1083-6. Sabunciyan Sarven, Yolken Robert, Ragan Christina M, Potash James B, Nimgaonkar Vishwajit L, Dickerson Faith, Llenos Ida C, Weis Ser |
The transcription factor PITX3 is associated with sporadic Parkinson's disease. Neurobiology of aging 2009 May 30 (5): 731-8. Fuchs Julia, Mueller Jakob C, Lichtner Peter, Schulte Claudia, Munz Marita, Berg Daniela, Wüllner Ullrich, Illig Thomas, Sharma Manu, Gasser Thom |
Polymorphisms of coding trinucleotide repeats of homeogenes in neurodevelopmental psychiatric disorders. Psychiatric genetics 2008 Dec 18 (6): 295-301. Laroche Fabrice, Ramoz Nicolas, Leroy Sophie, Fortin Célia, Rousselot-Paillet Bérangère, Philippe Anne, Colleaux Laurence, Bresson Jean-Louis, Mogenet Agnès, Golse Bernard, Mouren-Simeoni Marie-Christine, Gorwood Philip, Galli Thierry, Simonneau Michel, Krebs Marie-Odile, Robel Lauren |
Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases. The British journal of ophthalmology 2010 Aug 94 (8): 1100-4. Gonzalez-Rodriguez J, Pelcastre E L, Tovilla-Canales J L, Garcia-Ortiz J E, Amato-Almanza M, Villanueva-Mendoza C, Espinosa-Mattar Z, Zenteno J |
Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma. Molecular vision 2009 15 . Zhang Xiaohui, Li Shiqiang, Xiao Xueshan, Jia Xiaoyun, Wang Panfeng, Shen Huangxuan, Guo Xiangming, Zhang Qingjio |
Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE. Human genetics 2010 1 127 (4): 421-40. Rosenfeld Jill A, Ballif Blake C, Martin Donna M, Aylsworth Arthur S, Bejjani Bassem A, Torchia Beth S, Shaffer Lisa |
Mutations in the LHX2 gene are not a frequent cause of micro/anophthalmia. Molecular vision 2010 16 2847-9. Desmaison Annaïck, Vigouroux Adeline, Rieubland Claudine, Peres Christine, Calvas Patrick, Chassaing Nicol |
Genome-wide association analysis of Sasang constitution in the Korean population. Journal of alternative and complementary medicine (New York, N.Y.) 2012 Mar 18 (3): 262-9. Kim Bu-Yeo, Jin Hee-Jeong, Kim Jong Ye |
Pituitary stalk interruption syndrome in 58 Chinese patients: clinical features and genetic analysis. Clinical endocrinology 2012 Dec . Yang Y, Guo QH, Wang BA, Dou JT, Lv ZH, Ba JM, Lu JM, Pan CY, Mu YM |
Gradual loss of ACTH due to a novel mutation in LHX4: comprehensive mutation screening in Japanese patients with congenital hypopituitarism. PloS one 2012 7 (9): 9. Takagi M, Ishii T, Inokuchi M, Amano N, Narumi S, Asakura Y, Muroya K, Hasegawa Y, Adachi M, Hasegawa T |
SOX2, OTX2 and PAX6 analysis in subjects with anophthalmia and microphthalmia. European journal of medical genetics 2015 Feb 58 (2): 66-70. Mauri Lucia, Franzoni Alessandra, Scarcello Manuela, Sala Stefano, Garavelli Livia, Modugno Alessandra, Grammatico Paola, Patrosso Maria Cristina, Piozzi Elena, Del Longo Alessandra, Gesu Giovanni P, Manfredini Emanuela, Primignani Paola, Damante Giuseppe, Penco Silva |
Heterozygous defects in PAX6 gene and congenital hypopituitarism. European journal of endocrinology / European Federation of Endocrine Societies 2015 Jan 172 (1): 37-45. Takagi Masaki, Nagasaki Keisuke, Fujiwara Ikuma, Ishii Tomohiro, Amano Naoko, Asakura Yumi, Muroya Koji, Hasegawa Yukihiro, Adachi Masanori, Hasegawa Tomono |
Mandibular dysostosis without microphthalmia caused by OTX2 deletion. American journal of medical genetics. Part A 2016 Jul . Latypova Xénia, Bordereau Sylvain, Bleriot Alice, Pichon Olivier, Poulain Damien, Briand Annaïg, Le Caignec Cédric, Isidor Bertra |
Nasal DNA methylation differentiates corticosteroid treatment response in pediatric asthma: A pilot study. PloS one 2017 10 12 (10): e0186150. Zhang Xue, Biagini Myers Jocelyn M, Yadagiri Veda K, Ulm Ashley, Chen Xiaoting, Weirauch Matthew T, Khurana Hershey Gurjit K, Ji Ho |
Genetic risk variants for metabolic traits in Arab populations. Scientific reports 2017 Jan 7 40988. Hebbar Prashantha, Elkum Naser, Alkayal Fadi, John Sumi Elsa, Thanaraj Thangavel Alphonse, Alsmadi Osa |
Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing. Journal of human genetics 2018 9 63 (11): 1169-1180. Matías-Pérez Diana, García-Montaño Leopoldo A, Cruz-Aguilar Marisa, García-Montalvo Iván A, Nava-Valdéz Jessica, Barragán-Arevalo Tania, Villanueva-Mendoza Cristina, Villarroel Camilo E, Guadarrama-Vallejo Clavel, la Cruz Rocío Villafuerte-de, Chacón-Camacho Oscar, Zenteno Juan |
Genome-wide association study suggests four variants influencing outcomes with ranibizumab therapy in exudative age-related macular degeneration.
Journal of human genetics 2018 Oct 63 (10): 1083-1091. Akiyama Masato, Takahashi Atsushi, Momozawa Yukihide, Arakawa Satoshi, Miya Fuyuki, Tsunoda Tatsuhiko, Ashikawa Kyota, Oshima Yuji, Yasuda Miho, Yoshida Shigeo, Enaida Hiroshi, Tan Xue, Yanagi Yasuo, Yasukawa Tsutomu, Ogura Yuichiro, Nagai Yoshimi, Takahashi Kanji, Fujisawa Kimihiko, Inoue Maiko, Arakawa Akira, Tanaka Koji, Yuzawa Mitsuko, Kadonosono Kazuaki, Sonoda Koh-Hei, Ishibashi Tatsuro, Kubo Michia |
Genetic investigation of ocular developmental genes in 52 patients with anophthalmia/microphthalmia. Ophthalmic genetics 2018 Feb 1-9. Vidya Nair Gopinathan, Rajkumar Sankaranarayanan, Vasavada Abhay |
Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR. Endocrine connections 2019 4 8 (5): 590-595. Nakaguma Marilena, Correa Fernanda A, Santana Lucas S, Benedetti Anna F F, Perez Ricardo V, Huayllas Martha K P, Miras Mirta B, Funari Mariana F A, Lerario Antonio M, Mendonca Berenice B, Carvalho Luciani R S, Jorge Alexander A L, Arnhold Ivo J |
Results from a Genome-Wide Association Study (GWAS) in Mastocytosis Reveal New Gene Polymorphisms Associated with WHO Subgroups.
International journal of molecular sciences 2020 Jul 21 (15): . Nedoszytko Bogus?aw, Sobalska-Kwapis Marta, Strapagiel Dominik, Lange Magdalena, Górska Aleksandra, Elberink Joanne N G Oude, van Doormaal Jasper, S?omka Marcin, Kalinowski Leszek, Grucha?a-Niedoszytko Marta, Nowicki Roman J, Valent Peter, Niedoszytko Mar |
Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defects. Clinical genetics 2021 May . Guida Valentina, Sparascio Francesca Piceci, Bernardini Laura, Pancheri Francesco, Melis Daniela, Cocciadiferro Dario, Pagnoni Mario, Puzzo Marianna, Goldoni Marina, Barone Chiara, Hozhabri Hossein, Putotto Carolina, Giuffrida Maria Grazia, Briuglia Silvana, Palumbo Orazio, Bianca Sebastiano, Stanzial Franco, Benedicenti Francesco, Kariminejad Ariana, Forzano Francesca, Baghernajad Salehi Leila, Mattina Teresa, Brancati Francesco, Castori Marco, Carella Massimo, Fadda Maria Teresa, Iannetti Giorgio, Dallapiccola Bruno, Digilio Maria Cristina, Marino Bruno, Tartaglia Marco, De Luca Alessand |
Comprehensive Identification of Pathogenic Gene Variants in Patients With Neuroendocrine Disorders. The Journal of clinical endocrinology and metabolism 2021 Mar . Vishnopolska Sebastian Alexis, Mercogliano Maria Florencia, Camilletti Maria Andrea, Mortensen Amanda Helen, Braslavsky Debora, Keselman Ana, Bergadá Ignacio, Olivieri Federico, Miranda Lucas, Marino Roxana, Ramírez Pablo, Pérez Garrido Natalia, Patiño Mejia Helen, Ciaccio Marta, Di Palma Maria Isabel, Belgorosky Alicia, Martí Marcelo Adrian, Kitzman Jacob Otto, Camper Sally Ann, Pérez-Millán Maria In |
Genetic alterations of TP53 and OTX2 indicate increased risk of relapse in WNT medulloblastomas. Acta neuropathologica 2022 Oct . Goschzik Tobias, Mynarek Martin, Doerner Evelyn, Schenk Alina, Spier Isabel, Warmuth-Metz Monika, Bison Brigitte, Obrecht Denise, Struve Nina, Kortmann Rolf-Dieter, Schmid Matthias, Aretz Stefan, Rutkowski Stefan, Pietsch Torst |
Upregulation of OTX2-AS1 is Associated With Immune Infiltration and Predicts Prognosis of Gastric Cancer. Technology in cancer research & treatment 2023 2 22 15330338231154091. Han Quan-Li, Cui Zhi, Wang Qi, Pang Fang, Li Dongbing, Wang Donglia |
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- Page last updated:Apr 16, 2024
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