Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 1249 Records) |
| Query Trace: Genetic counseling[original query] |
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| Germline genetic testing reveals pathogenic variants in uterine serous carcinoma patients. Gynecologic oncology reports 2024 9 55 101498. Katelyn Tondo-Steele, Kara J Milliron, Jean H Siedel, Shitanshu Uppal, Sofia D Merajver, Karen McLe |
| Association of FOXL2 and ERCC6 variants with premature ovarian insufficiency and their potential use in clinical IVF guidance. Gene 2024 9 933 148946. Meng Gu, Jiajun Fang, Zhongmei Shao, Hui Yu, Senchao Guo, Yang Gao, Xiaojin He, Yuping Xu, Mingrong |
| Two Moroccan Families with Emery-Dreifuss Muscular Dystrophy and Report of a Novel LMNA Pathogenic Variant. Molecular syndromology 2024 12 15 (6): 517-522. Yasmina Rahmuni, Youssef El Kadiri, Jaber Lyahyai, Nezha Birouk, Mounir Nesnassi, Abdelaziz Sefiani, Ilham Rat |
| First clinical and pedigree study of rare HBB: c.316-90 A?>?G variant in ?-globin gene in Chinese population using third-generation sequencing. Annals of hematology 2024 12 . Jianlong Zhuang, Nan Huang, Yu Zheng, Na Zhang, Chunnuan Ch |
| Molecular Characterization of ?? Thalassemia/Hereditary Persistence of Fetal Hemoglobin and Its Correlation With Clinical and Hematological Profile; a Single Center Study in North India. International journal of laboratory hematology 2024 12 . R Gupta, A Shah, K Gupta, D Chandra, A Sharma, K Rahman, M K Singh, S Yadav, R Kashy |
| Case Report: Novel CNGA3 compound heterozygous variants cause achromatopsia in three patients from a family. Frontiers in genetics 2024 12 15 1457569. Xiaoqiang Zhou, Yasi Zhou, Shuijuan Wu, Xiaoling Guo, Liangfeng Yao, Xingkun Ya |
| Cancer burden in individuals with single versus double pathogenic variants in cancer susceptibility genes. Genetics in medicine open 2024 12 2 101829. Nihat B Agaoglu, Brittany L Bychkovsky, Carolyn Horton, Min-Tzu Lo, Linda Polfus, Cassidy Carraway, Parichehr Hemyari, Colin Young, Marcy E Richardson, Rochelle Scheib, Judy E Garber, Huma Q Ra |
| Mutation spectrum and genotype-phenotype correlation of pediatric patients with methylmalonic acidemia. Pediatric research 2024 11 . Fengying Lu, Bin Zhang, Yuqi Yang, Ye Shi, Fangxiu Zheng, Qin Zhou, Yingping Chen, Lingna Zhou, Bin |
| Genetic and clinical characteristics of genetic tumor syndromes in the central nervous system cancers: Implications for clinical practice. iScience 2024 11 27 (11): 111073. Chuanwei Wang, Jian Chen, Yanzhao Wang, Ningning Luo, Tiantian Han, Xiangyu Yin, Yunjie Song, Dongsheng Chen, Jie Go |
| Germline Variant Spectrum in Southern Italian High-Risk Hereditary Breast Cancer Patients: Insights from Multi-Gene Panel Testing. Current issues in molecular biology 2024 11 46 (11): 13003-13020. Valentina Rocca, Elisa Lo Feudo, Francesca Dinatolo, Serena Marianna Lavano, Anna Bilotta, Rosario Amato, Lucia D'Antona, Francesco Trapasso, Francesco Baudi, Emma Colao, Nicola Perrotti, Francesco Paduano, Rodolfo Iulia |
| Clinical impact of genetic testing in a large cohort of pediatric cardiomyopathies. International journal of cardiology 2024 11 419 132729. Flavie Ader, Neil Derridj, Anne Claire Brehin, Olivia Domanski, Jean Benoit Baudelet, Pauline Gras, Alice Kuster, Nadir Benbrik, Yann Troadec, Isabelle Denjoy, Ronan Bonnefoy, Constance Beyler, Salima El Chehadeh, Elise Schaeffer, Delphine Dupin-Deguine, Adrien Bloch, Caroline Rooryck, Julie Proukhnitzky, Gilles Bosser, Marie Vincenti, Estelle Gandjbakhch, Philippe Charron, Pascale Richard, Damien Bonnet, Diala Khraic |
| Novel variants in DNAH9 are present in two infertile patients with severe asthenospermia. Journal of human genetics 2024 11 . Fei Yan, Weiwei Zhi, Yazhen Wei, Li Dai, Wenming Xu, Rui Zhe |
| Carrier frequency and incidence estimation of deficiency of adenosine deaminase 2 in the Chinese population based on massive exome sequencing data. Clinical immunology (Orlando, Fla.) 2024 10 269 110394. Lulu Yan, Xiangwei Sun, Biying Lou, Yuxin Zhang, Danyan Zhuang, Jia Jia, Li Zhang, Yan He, Limin Xu, Shanshan Wu, Qing Zhou, Changshui Chen, Xiaomin Yu, Haibo |
| Detecting Alu Element Insertion Variant in RP1 Gene Using Whole Genome Sequencing in Patients with Retinitis Pigmentosa. Genes 2024 10 15 (10): . Hye-Ji Kwon, Beom-Hee Lee, Joo-Yong L |
| Identification of the mutations in BTD gene in Iranian patients with biotinidase deficiency and evaluating their genotype-phenotype correlations. Gene 2024 10 935 149020. Fatemeh Azizinejad, Majid Aminzadeh, Maryam Tahmasebi-Birgani, Solmaz Heidari, Pegah Ghand |
| A new subtype of Lynch syndrome associated with MSH2 c.354T>A (p. Y118*) identified in a Chinese family: case report and literature review. Frontiers in genetics 2024 10 15 1440179. Lan Zhong, Wenxiang Wang, Yuanqiong Duan, Liang Song, Zhanghuan Li, Kaixuan Yang, Qintong Li, Rutie Y |
| Clinical and genetic landscape of optic atrophy in 826 families: insights from 50 nuclear genes. Brain : a journal of neurology 2024 10 . Yuxi Zheng, Panfeng Wang, Shiqiang Li, Yuxi Long, Yi Jiang, Dongwei Guo, Xiaoyun Jia, Mengchu Liu, Yiyan Zeng, Xueshan Xiao, J Fielding Hejtmancik, Qingjiong Zhang, Wenmin S |
| Prevalence Estimation of the PALB2 Germline Variant in East Asians and Koreans through Population Database Analysis. Cancers 2024 10 16 (19): . Jong Eun Park, Min-Chae Kang, Taeheon Lee, Eun Hye Cho, Mi-Ae Jang, Dongju Won, Boyoung Park, Chang-Seok Ki, Sun-Young Ko |
| Genetic diagnosis and outcomes of intracytoplasmic sperm injection in South Chinese patients with congenital bilateral aplasia of the vas deferens. Basic and clinical andrology 2024 10 34 (1): 17. Haishan Hu, Qing Zhou, Yanlin Ma, Lingxiao Zha |
| Assessment of cancer predisposition syndromes in children with leukemia and solid tumors: germline-genomic profiling and clinical features in a series of cases. Pediatric hematology and oncology 2024 10 1-13. Minu Singh, Prateek Bhatia, Pankaj Sharma, Amita Trehan, Richa Ja |
| A Genome-wide Association Study Reveals a Novel Susceptibility Locus for Pancreas Divisum at 3q29. The Journal of surgical research 2024 10 303 287-294. Apostolos Gaitanidis, Mathias A Christensen, Kerry A Breen, Avinash R Kambadakone, Nencyben D Joshipura, Carlos Fernandez-Del Castillo, Yasmin G Hernandez-Barco, Haytham M A Kaafarani, George C Velmahos, Maha R Farhat, Peter J Fagenho |
| Genetic predisposition to childhood cancer. World journal of clinical pediatrics 2024 10 13 (3): 95010. Jelena Roganov |
| Landscape of Multilocus Inherited Neoplasia Allele Syndrome in Mexican Population. JCO global oncology 2025 1 11 e2400065. Dione Aguilar, María L Garza-Rodríguez, Diana C Pérez-Ibave, Carolina E Muñiz-Garza, Victor Treviño, Cynthia M Villarreal-Garza, Oscar Vidal-Gutiérrez, Carlos H Burciaga-Flor |
| Case Report: Filamin C gene mutation associated with restrictive cardiomyopathy leading to heart transplantation. Frontiers in transplantation 2025 1 3 1431851. Ludmila De Oliveira Jaime Sales, Paulo Sampaio Gutierrez, Adailson Wagner D Siqueira, Marcelo Biscegli Jatene, Estela Aze |
| Exome Sequencing of Fetuses With Intracranial Hemorrhage Unravels Novel Causative Genes and an Extreme Genetic Heterogeneity. Prenatal diagnosis 2025 1 . Thibault Coste, Chaker Aloui, Justine Chanclud, Eléonore Blondiaux, Jelena Martinovic, Tania Attie-Bitach, Florence Petit, Delphine Héron, Alexandre G de Brevern, Ragousandirane Radjasandirane, Michaelle Corpechot, Hélène Morel, Rachel Petermann, Anne-Louise Leutenegger, Elisabeth Tournier-Lasser |
| Multigene Panel Testing Revealed Novel Variants in Hereditary Spherocytosis Patients in Türkiye. Turkish journal of haematology : official journal of Turkish Society of Haematology 2025 1 . Ömer Do?ru, Ceren Alavanda, ?enol Demir, Ahmet Koç, P?nar A |
| Novel MKRN3 gene mutation associated with central precocious puberty in a Chinese child: a case report. Frontiers in endocrinology 2025 1 15 1491664. Jingna Wang, Rongmin Li, Jieying Wang, Di Wu, Shuqin Lei, Yanmei Sang, Jie Cha |
| Counseling gap may worsen endometrial cancer disparities in Black women: A study finds that women of Black or African ancestry have fewer cancer-associated genetic mutations than White women but less access to genetic counseling. Cancer cytopathology 2025 1 133 (1): e22928. Bryn Nelson, William Faqu |
| Maternal X chromosome pericentric inversion resulting in the genetic analysis of offspring pedigrees with deletions at Xp22.33 and Xp22.33p11.3, and duplications at Xq27.3q28: Case report. Medicine 2025 1 104 (2): e41255. Guo-Sheng Deng, Yu-Qing Lai, Bo-Wen Luo, Yu-Di Luo, Ling-Ling Zhu, Zeng-Yu Yang, Keng Feng, De-Rong Li, Xiang |
| [Analysis of genetic diagnosis results of 1 501 suspected Cases of thalassemia patients from 2020 to 2022]. Zhongguo shi yan xue ye xue za zhi 2025 1 32 (6): 1848-1851. Xue-Li Yang, Zhen-Yu Liu, Jun-Ning Zhang, Guang-Yu Wang, Ji-Ming Li, Chun-Hong Li, Xian-Liang H |
- Page last reviewed:Feb 1, 2024
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