Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 1103 Records) |
| Query Trace: Genetic counseling[original query] |
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| Molecular basis of a high Hb A/Hb F?-thalassemia trait: a retrospective analysis, genotype-phenotype interaction, diagnostic implication, and identification of a novel interaction with ?-globin gene triplication. PeerJ 2023 5 11 e15308. Chayada Soontornpanawet, Kritsada Singha, Hataichanok Srivorakun, Wanicha Tepakhan, Goonnapa Fucharoen, Supan Fucharo |
| Tooth agenesis patterns and variants in PAX9: A systematic review. The Japanese dental science review 2023 5 59 129-137. Narin Intarak, Karn Tongchairati, Kittipat Termteerapornpimol, Soranun Chantarangsu, Thantrira Porntaveet |
| Family Matters: Germline Testing in Thoracic Cancers. American Society of Clinical Oncology educational book. American Society of Clinical Oncology. Annual Meeting 2023 5 43 e389956. Feighanne Hathaway, Renato Martins, Steven Sorscher, Aleksandra Bzura, Frank Dudbridge, Dean A Fenne |
| [Phenotypic and genetic analysis of a child with partial trisomy 7q]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 4 40 (5): 604-608. Chaojie Wang, Dongxiao Li, Yaodong Zhang, Jinghui Kong, Rui Li, Chao Gao, Qing Shang, Huichun Zha |
| Candidate variants in DNA replication and repair genes in early-onset renal cell carcinoma patients referred for germline testing. BMC genomics 2023 4 24 (1): 212. Elena V Demidova, Ilya G Serebriiskii, Ramilia Vlasenkova, Simon Kelow, Mark D Andrake, Tiffiney R Hartman, Tatiana Kent, James Virtucio, Gail L Rosen, Richard T Pomerantz, Roland L Dunbrack, Erica A Golemis, Michael J Hall, David Y T Chen, Mary B Daly, Sanjeevani Aro |
| [Analysis of GBA mutations in patients with Parkinson's disease in the Krasnoyarsk region]. Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova 2023 4 123 (4): 103-108. T N Subbotina, V G Abramov, A A Shaleva, S V Vereschagina, D V Pokhab |
| Case report: TMEM106B haplotype alters penetrance of GRN mutation in frontotemporal dementia family. Frontiers in neurology 2023 4 14 1160248. Jolien Perneel, Masood Manoochehri, Edward D Huey, Rosa Rademakers, Jill Goldm |
| Pathology-supported genetic testing for the application of breast cancer pharmacodiagnostics: family counselling, lifestyle adjustments and change of medication. Expert review of molecular diagnostics 2023 4 1-13. Okunola Abisola O, Baatjes Karin J, Zemlin Annalise E, Torrorey-Sawe Rispah, Conradie Magda, Kidd Martin, Erasmus Rajiv T, van der Merwe Nerina C, Kotze Maritha |
| Increased prevalence of the founder BRCA1 c.5309G>T and recurrent BRCA2 c.1310_1313delAAGA mutations in breast cancer families from Northerstern region of Morocco: evidence of geographical specificity and high relevance for genetic counseling. BMC cancer 2023 4 23 (1): 339. Melki Rahma, Melloul Marouane, Aissaoui Souria, El Harroudi Tijani, Boukhatem Noureddi |
| BRCA1 and BRCA2 germline mutation analysis from a cohort of 1267 patients at high risk for breast cancer in Brazil. Breast cancer research and treatment 2023 3 . Mazzonetto Patricia, Milanezi Fernanda, D'Andrea Mariana, Martins Silvia, Monfredini Priscilla M, Dos Santos Silva Juliana, Perrone Eduardo, Villela Darine, Schnabel Beatriz, Nakano Viviane, Palmero Edenir Inez, Braggio Esteban, Cavalcanti Thereza L, Guida Gustavo, Migliavacca Michele P, Scapulatempo-Neto Cristovam, Zalcberg Ila |
| Germline Mutations Landscape in a Cohort of the State of Minas Gerais, Brazil, in Patients Who Underwent Genetic Counseling for Gynecological and Breast Cancer. Revista brasileira de ginecologia e obstetricia : revista da Federacao Brasileira das Sociedades de Ginecologia e Obstetricia 2023 3 45 (2): 74-81. Carvalho Camila Martins de, Braga Letícia da Conceição, Silva Luciana Maria, Chami Anisse Marques, Silva Filho Agnaldo Lopes |
| A Novel Nonsense Pathogenic TTN Variant Identified in a Patient with Severe Dilated Cardiomyopathy. Current issues in molecular biology 2023 3 45 (3): 2422-2430. Micolonghi Caterina, Fabiani Marco, Pagannone Erika, Savio Camilla, Ricci Marta, Caroselli Silvia, Gambioli Vittoria, Musumeci Beatrice, Germani Aldo, Tini Giacomo, Autore Camillo, Pizzuti Antonio, Visco Vincenzo, Rubattu Speranza, Petrucci Simona, Piane Mar |
| [Genetic analysis of a Fra(16)(q22) fragile site in a female with secondary infertility]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 3 40 (4): 495-499. Xie Chengxiu, Gao Chonglan, Kang Han, Liu Qingso |
| [Genetic analysis of a Chinese pedigree with 18q21.2-q22.3 duplication and deletion in two offspring respectively resulting from a maternal intrachromosomal insertion]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 3 40 (4): 483-489. Zhou Jiahong, Zhou Pan, Lyu Zhiyu, Zhang Hui, Luo Qing, Yuan Lan, Cheng Yang, Wen Xia, Liu Jin |
| Identification of biallelic variations of CEP70 in patients with male infertility. Frontiers in endocrinology 2023 3 14 1133222. Ruan Tiechao, Yang Yihong, Jiang Chuan, Shen Gan, Li Dingming, Shen Yi |
| Investigation of mutational spectrum in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma. Pakistan journal of medical sciences 2023 3 39 (2): 409-416. Zahid Tazeen, Khan Muhammad Umer, Zulfiqar Aymn, Jawad Fatima, Saleem Anosh, Khan Ahmad Ra |
| New pathogenic germline variants identified in mesothelioma. Lung cancer (Amsterdam, Netherlands) 2023 3 179 107172. Belcaid Laila, Bertelsen Birgitte, Wadt Karin, Tuxen Ida, Spanggaard Iben, Højgaard Martin, Benn Sørensen Jens, Ravn Jesper, Lassen Ulrik, Cilius Nielsen Finn, Rohrberg Kristoffer, Westmose Yde Christi |
| The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis. PNAS nexus 2023 3 2 (3): pgad043. Peter Virginie G, Kaminska Karolina, Santos Cristina, Quinodoz Mathieu, Cancellieri Francesca, Cisarova Katarina, Pescini Gobert Rosanna, Rodrigues Raquel, Custódio Sónia, Paris Liliana P, Sousa Ana Berta, Coutinho Santos Luisa, Rivolta Car |
| Biochemical and mutational analyses of HEXA in a cohort of Egyptian patients with infantile Tay-Sachs disease. Expansion of the mutation spectrum. Orphanet journal of rare diseases 2023 3 18 (1): 52. Ibrahim Doaa M A, Ali Ola S M, Nasr Hala, Fateen Ekram, AbdelAleem Ali |
| Identification of a de novo heterozygous mutation of ANKZF1 in a Chinese patient with inflammatory bowel disease. QJM : monthly journal of the Association of Physicians 2023 3 . Huang Hao, Yang Xinyi, Tao Lijian, Xiang Rong, Yang Huixia |
| Approaches to Genetic Screening in Cardiomyopathies: Practical Guidance for Clinicians. JACC. Heart failure 2023 2 11 (2): 133-142. Kontorovich Amy |
| Role of psychological background in cancer susceptibility genetic testing distress: It is not only about a positive result. Journal of genetic counseling 2023 2 . López-Fernández Adrià, Villacampa Guillermo, Salinas Mònica, Grau Elia, Darder Esther, Carrasco Estela, Solanes Ares, Velasco Angela, Torres Maite, Munté Elisabet, Iglesias Silvia, Torres-Esquius Sara, Tuset Noemí, Diez Orland, Lázaro Conxi, Brunet Joan, Corbella Sergi, Balmaña Judi |
| Germline pathogenic variants in 786 neuroblastoma patients. medRxiv : the preprint server for health sciences 2023 2 . Kim Jung, Vaksman Zalman, Egolf Laura E, Kaufman Rebecca, Evans J Perry, Conkrite Karina L, Danesh Arnavaz, Lopez Gonzalo, Randall Michael P, Dent Maiah H, Farra Lance M, Menghani Neil, Dymek Malwina, Desai Heena, Hausler Ryan, , , , Auvil Jaime Guidry, Gerhard Daniela S, Hakonarson Hakon, Maxwell Kara N, Cole Kristina A, Pugh Trevor J, Bosse Kristopher R, Khan Javed, Wei Jun S, Maris John M, Stewart Douglas R, Diskin Sharon |
| [Carrier screening and prenatal diagnosis for thalassemia-associated mutations in Jiaxing area of Zhejiang]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 2 40 (3): 295-300. Jiang Huling, Zhou Chiyan, Yang Li, Li Suping, Liu Xiaod |
| Evaluation of genetic alterations in hereditary cancer susceptibility genes in the Ashkenazi Jewish women community of Mexico. Frontiers in genetics 2023 2 14 1094260. Díaz-Velásquez Clara Estela, Gitler Rina, Antoniano Adriana, Kershenovich Sefchovich Ronny, De La Cruz-Montoya Aldo Hugo, Martínez-Gregorio Héctor, Rojas-Jiménez Ernesto Arturo, Cortez Cardoso Penha Ricardo, Terrazas Luis Ignacio, Wegman-Ostrosky Talia, Levi-Lahad Ephrat, Zabaleta Jovanny, Perdomo Sandra, Vaca-Paniagua Feli |
| Identification of Germline Variants in Patients with Hereditary Cancer Syndromes in Northeast Mexico. Genes 2023 2 14 (2): . Pérez-Ibave Diana Cristina, Garza-Rodríguez María Lourdes, Noriega-Iriondo María Fernanda, Flores-Moreno Sonia María, González-Geroniz Manuel Ismael, Espinoza-Velazco Absalon, Castruita-Ávila Ana Lilia, Alcorta-Núñez Fernando, Zayas-Villanueva Omar Alejandro, González-Guerrero Juan Francisco, Alcorta-Garza Adelina, Vidal-Gutiérrez Oscar, Burciaga-Flores Carlos Horac |
| Evaluation of the FAS and FASL Gene changes in women with premature ovarian failure: A case-control study. International journal of reproductive biomedicine 2023 2 20 (12): 1007-1012. Akhavansales Zhima, Mosadeghmehrjardi Alimohammad, Reza Ashrafzadeh Hamid, Fakhteh Yavari Shadnaz, Taher Tahoori Mohammad, Bitaraf Sani Morteza, Mohammadi Mahnaz, Montazeri Fateme, Ghasemi Nasr |
| Complex Ataxia-Dementia Phenotype in Patients with Digenic TBP/STUB1 Spinocerebellar Ataxia. Movement disorders : official journal of the Movement Disorder Society 2023 2 . Nanetti Lorenzo, Magri Stefania, Fichera Mario, Castaldo Anna, Nigri Anna, Pinardi Chiara, Mongelli Alessia, Sarro Lidia, Pareyson Davide, Grisoli Marina, Gellera Cinzia, Di Bella Daniela, Mariotti Caterina, Taroni Fran |
| An In-Depth Single-Gene Worldwide Carrier Frequency and Genetic Prevalence Analysis of CYP4V2 as the Cause of Bietti Crystalline Dystrophy. Translational vision science & technology 2023 2 12 (2): 27. Hanany Mor, Yang Richard Rui, Lam Chun Man, Beryozkin Avigail, Sundaresan Yogapriya, Sharon Dr |
| Association of Reported Candidate Monogenic Genes With Lung Cancer Risk. Clinical lung cancer 2023 2 . Rifkin Andrew S, Less Ethan M, Wei Jun, Shi Zhuqing, Zheng Siqun Lilly, Helfand Brian T, Hulick Peter J, Krantz Seth B, Xu Jianfe |
- Page last reviewed:Feb 1, 2023
- Page last updated:May 22, 2023
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