Human Genome Epidemiology Literature Finder
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Records 1 - 12 (of 12 Records) |
| Query Trace: Disease and 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| The effect of rs2910686 on ERAP2 expression in IBD and epithelial inflammatory response. Journal of translational medicine 2024 8 22 (1): 750. Siri Sæterstad, Ann Elisabeth Østvik, Marianne Doré Hansen, Torunn Bruland, Atle van Beelen Granlu |
| Label free quantitative proteomic profiling of serum samples of intellectually disabled young patients revealed dysregulation of complement coagulation and cholesterol cascade systems. Metabolic brain disease 2024 5 . Soma Vankwani, Munazza Raza Mirza, Fazli Rabbi Awan, Muneeza Zafar, Arkadiusz Nawrocki, Muhammad Wasim, Haq Nawaz Khan, Hina Ayesha, Martin Rossel Larsen, Muhammad Iqbal Choudha |
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