Human Genome Epidemiology Literature Finder
Records 1 - 24 (of 24 Records) |
Query Trace: FLNA[original query] |
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Human gene copy number spectra analysis in congenital heart malformations. Physiological genomics 2012 Feb . Tomita-Mitchell A, Mahnke DK, Struble CA, Tuffnell ME, Stamm KD, Hidestrand M, Harris SE, Goetsch MA, Simpson PM, Bick DP, Broeckel U, Pelech AN, Tweddell JS, Mitchell ME |
Whole exome sequence analysis of Peters anomaly. Human genetics 2014 Dec 133 (12): 1497-511. Weh Eric, Reis Linda M, Happ Hannah C, Levin Alex V, Wheeler Patricia G, David Karen L, Carney Erin, Angle Brad, Hauser Natalie, Semina Elena |
Genomic landscapes of breast fibroepithelial tumors. Nature genetics 2015 Oct . Tan Jing, Ong Choon Kiat, Lim Weng Khong, Ng Cedric Chuan Young, Thike Aye Aye, Ng Ley Moy, Rajasegaran Vikneswari, Myint Swe Swe, Nagarajan Sanjanaa, Thangaraju Saranya, Dey Sucharita, Nasir Nur Diyana Md, Wijaya Giovani Claresta, Lim Jing Quan, Huang Dachuan, Li Zhimei, Wong Bernice Huimin, Chan Jason Yong Sheng, McPherson John R, Cutcutache Ioana, Poore Gregory, Tay Su Ting, Tan Wai Jin, Putti Thomas Choudary, Ahmad Buhari Shaik, Iau Philip, Chan Ching Wan, Tang Anthony P H, Yong Wei Sean, Madhukumar Preetha, Ho Gay Hui, Tan Veronique Kiak Mien, Wong Chow Yin, Hartman Mikael, Ong Kong Wee, Tan Benita K T, Rozen Steven G, Tan Patrick, Tan Puay Hoon, Teh Bin Te |
47 patients with FLNA associated periventricular nodular heterotopia. Orphanet journal of rare diseases 2015 10 134. Lange Max, Kasper Burkhard, Bohring Axel, Rutsch Frank, Kluger Gerhard, Hoffjan Sabine, Spranger Stephanie, Behnecke Anne, Ferbert Andreas, Hahn Andreas, Oehl-Jaschkowitz Barbara, Graul-Neumann Luitgard, Diepold Katharina, Schreyer Isolde, Bernhard Matthias K, Mueller Franziska, Siebers-Renelt Ulrike, Beleza-Meireles Ana, Uyanik Goekhan, Janssens Sandra, Boltshauser Eugen, Winkler Juergen, Schuierer Gerhard, Hehr U |
Germline and somatic mutations in cortical malformations: Molecular defects in Argentinean patients with neuronal migration disorders. PloS one 2017 9 12 (9): e0185103. González-Morón Dolores, Vishnopolska Sebastián, Consalvo Damián, Medina Nancy, Marti Marcelo, Córdoba Marta, Vazquez-Dusefante Cecilia, Claverie Santiago, Rodríguez-Quiroga Sergio Alejandro, Vega Patricia, Silva Walter, Kochen Silvia, Kauffman Marcelo Andr |
New insights into mitral valve dystrophy: a Filamin-A genotype-phenotype and outcome study. European heart journal 2017 10 39 (15): 1269-1277. Le Tourneau Thierry, Le Scouarnec Solena, Cueff Caroline, Bernstein Daniel, Aalberts Jan J J, Lecointe Simon, Mérot Jean, Bernstein Jonathan A, Oomen Toon, Dina Christian, Karakachoff Matilde, Desal Hubert, Al Habash Ousama, Delling Francesca N, Capoulade Romain, Suurmeijer Albert J H, Milan David, Norris Russell A, Markwald Roger, Aikawa Elena, Slaugenhaupt Susan A, Jeunemaitre Xavier, Hagège Albert, Roussel Jean-Christian, Trochu Jean-Noël, Levine Robert A, Kyndt Florence, Probst Vincent, Le Marec Hervé, Schott Jean-Jacqu |
Targeted Next-Generation Sequencing of 406 Genes Identified Genetic Defects Underlying Congenital Heart Disease in Down Syndrome Patients. Pediatric cardiology 2018 Aug . Alharbi Khalid M, Al-Mazroea Abdelhadi H, Abdallah Atiyeh M, Almohammadi Yousef, Carlus S Justin, Basit Sulm |
Application of high-resolution array platform for genome-wide copy number variation analysis in patients with nonsyndromic cleft lip and palate. Journal of clinical laboratory analysis 2018 3 32 (6): e22428. da Silva Heglayne Pereira Vital, Oliveira Gustavo Henrique de Medeiros, Ururahy Marcela Abbott Galvão, Bezerra João Felipe, de Souza Karla Simone Costa, Bortolin Raul Hernandes, Luchessi André Ducati, Silbiger Vivian Nogueira, Lima Valéria Morgiana Gualberto Duarte Moreira, Leite Gisele Correia Pacheco, Brito Maria Edinilma Felinto, Ribeiro Erlane Marques, Gil-da-Silva-Lopes Vera Lúcia, de Rezende Adriana Augus |
Genomic profile of breast sarcomas: a comparison with malignant phyllodes tumours. Breast cancer research and treatment 2018 12 174 (2): 365-373. Lim Sue Zann, Ng Cedric Chuan Young, Rajasegaran Vikneswari, Guan Peiyong, Selvarajan Sathiyamoorthy, Thike Aye Aye, Nasir Nur Diyana Binte Md, Koh Valerie Cui Yun, Tan Benita Kiat Tee, Ong Kong Wee, Teh Bin Tean, Tan Puay Ho |
Genomic characterisation of breast fibroepithelial lesions in an international cohort. The Journal of pathology 2019 Aug . Md Nasir Nur Diyana, Ng Cedric Chuan Young, Rajasegaran Vikneswari, Wong Suet Far, Liu Wei, Ng Gwendolene Xin Pei, Lee Jing Yi, Guan Peiyong, Lim Jing Quan, Thike Aye Aye, Koh Valerie Cui Yun, Loke Benjamin Nathanael, Chang Kenneth Tou En, Gudi Mihir Ananta, Lian Derrick Wen Quan, Madhukumar Preetha, Tan Benita Kiat Tee, Tan Veronique Kiak Mien, Wong Chow Yin, Yong Wei Sean, Ho Gay Hui, Ong Kong Wee, , Tan Patrick, Teh Bin Tean, Tan Puay Ho |
Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlations. Seizure 2020 6 80 145-152. Accogli Andrea, Severino Mariasavina, Riva Antonella, Madia Francesca, Balagura Ganna, Iacomino Michele, Carlini Barbara, Baldassari Simona, Giacomini Thea, Croci Carolina, Pisciotta Livia, Messana Tullio, Boni Antonella, Russo Angelo, Bilo Leonilda, Tonziello Rosa, Coppola Antonietta, Filla Alessandro, Mecarelli Oriano, Casalone Rosario, Pisani Francesco, Falsaperla Raffaele, Marino Silvia, Parisi Pasquale, Ferretti Alessandro, Elia Maurizio, Luchetti Anna, Milani Donatella, Vanadia Francesca, Silvestri Laura, Rebessi Erika, Parente Eliana, Vatti Giampaolo, Mancardi Maria Margherita, Nobili Lino, Capra Valeria, Salpietro Vincenzo, Striano Pasquale, Zara Federi |
Next generation sequencing exome data analysis aids in the discovery of SNP and INDEL patterns in Parkinson's disease. Genomics 2020 4 112 (5): 3722-3728. Odumpatta Rajasree, Mohanapriya Arumug |
[New variants in FLNA gene cause periventricular nodular heterotopia and epileptic seizure in three cases]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021 7 38 (7): 626-630. Cao Mi, Liu Chao, Wei Zihan, Qiao Xiaozhi, Deng Yanch |
The variants at FLNA and FLNB contribute to the susceptibility of hypertension and stroke with differentially expressed mRNA. The pharmacogenomics journal 2021 3 21 (4): 458-466. Liu Chunlan, Tang Wuzhuang, Zhao Hailong, Yang Song, Ren Zhanyun, Li Jie, Chen Yanchun, Zhao Xianghai, Xu Donghua, Zhao Yanping, Shen Cho |
Poking COVID-19: Insights on Genomic Constraints among Immune-Related Genes between Qatari and Italian Populations. Genes 2021 11 12 (11): . Mbarek Hamdi, Cocca Massimiliano, Al-Sarraj Yasser, Saad Chadi, Mezzavilla Massimo, AlMuftah Wadha, Cocciadiferro Dario, Novelli Antonio, Quinti Isabella, AlTawashi Azza, Salvaggio Salvino, AlThani Asma, Novelli Giuseppe, Ismail Said |
Disorders of Sex Development in Individuals Harbouring MAMLD1 Variants: WES and Interactome Evidence of Oligogenic Inheritance. Frontiers in endocrinology 2021 1 11 582516. Li Lele, Gao Fenqi, Fan Lijun, Su Chang, Liang Xuejun, Gong ChunX |
Association between ? arrestin 2 and filamin A gene variations with medical treatment response in acromegaly patients. Minerva endocrinology 2021 Oct . Akdemir Ayse S, Metin Armagan Derya, Polat Korkmaz Ozge, Ozkaya Hande M, Kadioglu Pinar, Gazioglu Nurperi, Tanriover Necmettin, Dirican Ahmet, Ozturk Mel |
Analysis of recurrent molecular alterations in phyllodes tumour of breast: insights into prognosis and pathogenesis. Pathology 2022 Jun . Tsang Julia Y, Shao Yan, Poon Ivan K, Ni Yun-Bi, Kwan Johnny S, Chow Chit, Shea Ka-Ho, Tse Gary |
Platelet function and filamin A expression in two families with novel FLNA gene mutations associated with periventricular nodular heterotopia and panlobular emphysema. American journal of medical genetics. Part A 2022 2 188 (6): 1716-1722. Tanner Laura M, Kunishima Shinji, Lehtinen Elina, Helin Tuukka, Volmonen Kirsi, Lassila Riitta, Pöyhönen Min |
Identification of Somatic Mutations in Plasma Cell-Free DNA from Patients with Metastatic Oral Squamous Cell Carcinoma. International journal of molecular sciences 2023 6 24 (12): . Li-Han Lin, Kuo-Wei Chang, Hui-Wen Cheng, Chung-Ji L |
The role of rare genetic variants enrichment in epilepsies of presumed genetic etiology. medRxiv : the preprint server for health sciences 2023 3 . Bundalian Linnaeus, Su Yin-Yuan, Chen Siwei, Velluva Akhil, Kirstein Anna Sophia, Garten Antje, Biskup Saskia, Battke Florian, Lal Dennis, Heyne Henrike O, Platzer Konrad, Lin Chen-Ching, Lemke Johannes R, Le Duc Diana, |
Association of Androgen-Receptor Gene Mutations with the Copy Number of Androgen-Receptor Silk Protein A Complex and Glutathione-S-Transferases T1 and M1 in Prostate Cancer Patients. Genetics research 2023 2 2023 5956951. Zhang Yan, Meng Xiangdi, Ma Zhaosen, Sun Zhou, Wang Zhix |
Identification of cancer-associated fibroblasts signature for predicting the prognosis and immunotherapy response in hepatocellular carcinoma. Medicine 2023 11 102 (45): e35938. Jianzhong Ye, Wen Tian, Bigeng Zheng, Tao Ze |
Functional mutation, splice, distribution, and divergence analysis of impactful genes associated with heart failure and other cardiovascular diseases. Scientific reports 2023 10 13 (1): 16769. Ishani Mhatre, Habiba Abdelhalim, William Degroat, Shreya Ashok, Bruce T Liang, Zeeshan Ahm |
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- Page last updated:Mar 25, 2024
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