Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 1221 Records) |
Query Trace: Genetic counseling[original query] |
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Mutational analysis of the RB1 gene in patients with unilateral retinoblastoma. Frontiers in medicine 2024 9 11 1406215. Yacoub A Yousef, Mona Mohammad, Laith Baqain, Maysa Al-Hussaini, Mayada Abu Shanap, Hadeel Halalsheh, Jakub Khzouz, Imad Jaradat, Mustafa Mehyar, Iyad Sultan, Ibrahim AlNawaiseh, Munir Shawagf |
Missense and loss-of-function variants at GWAS loci in familial Alzheimer's disease. Alzheimer's & dementia : the journal of the Alzheimer's Association 2024 9 . Tamil Iniyan Gunasekaran, Dolly Reyes-Dumeyer, Kelley M Faber, Alison Goate, Brad Boeve, Carlos Cruchaga, Margaret Pericak-Vance, Jonathan L Haines, Roger Rosenberg, Debby Tsuang, Diones Rivera Mejia, Martin Medrano, Rafael A Lantigua, Robert A Sweet, David A Bennett, Robert S Wilson, Camille Alba, Clifton Dalgard, Tatiana Foroud, Badri N Vardarajan, Richard Maye |
Universal Genetic Testing for Newly Diagnosed Invasive Breast Cancer. JAMA network open 2024 9 7 (9): e2431427. Zoulikha Rezoug, Stephanie P Totten, David Szlachtycz, Adrienne Atayan, Kristen Mohler, Sophie Albert, Leila Feng, Brianna Lemieux Anglin, Zhen Shen, Daniel Jimenez, Nancy Hamel, Nicholas Meti, Khashayar Esfahani, Jean-François Boileau, Ipshita Prakash, Mark Basik, Sarkis Meterissian, Francine Tremblay, David Fleiszer, Dawn Anderson, George Chong, Stephanie M Wong, William D Foulk |
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 |
Genetic Testing Among Breast Cancer Patients in the Eastern Region of Saudi Arabia: Single-Center Experience. Journal of epidemiology and global health 2024 9 . Ghadeer Al Ghareeb, Zainab Al Nass, Salma Abu-Grain, Alia Alnaji, Hani Almohanna, Hadi Al Shaikh Nasser, Saad Al Shahra |
Genotype-phenotype spectrum and correlation of PHARC Syndrome due to pathogenic ABHD12 variants. BMC medical genomics 2024 8 17 (1): 203. Xicui Long, Wenyu Xiong, Xuegang Wang, Jia Geng, Mingjun Zhong, Yu Huang, Man Liu, Fengxiao Bu, Jing Cheng, Yu Lu, Huijun Yu |
The Systemic Genotype-Phenotype Characterization of PAX6-Related Eye Disease in 164 Chinese Families. Investigative ophthalmology & visual science 2024 8 65 (10): 46. Yi Jiang, Zhen Yi, Yuxi Zheng, Jiamin Ouyang, Dongwei Guo, Shiqiang Li, Xueshan Xiao, Panfeng Wang, Wenmin Sun, Qingjiong Zha |
[Whole exome sequencing analysis of 37 fetuses with cardiac abnormalities]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2024 8 41 (8): 903-908. Xiayuan Xu, Fenglei Ye, Jun Zhang, Keqin Jin, Qian Shen, Shuangshuang Shen, Fan J |
[Report of a child with Bainbridge-Ropers syndrome due to a novel variant of ASXL3 gene and a literature review]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2024 8 41 (8): 966-972. Yunshu Jiang, Rong Li, Xiaonan |
Mutation Analysis of Exon 1 in the Hemoglobin Subunit Beta (HBB) Gene in Beta-Thalassemia. Cureus 2024 8 16 (7): e65198. K Sharath Kumar, Mallanagouda M Patil, Rudragouda Bulagouda, Gurushantappa S Kadak |
Prenatal diagnosis and genetic counseling of a de novo 10q11.21q11.23 duplication associated with a normal phenotype. The Journal of international medical research 2024 8 52 (8): 3000605241271837. Liu Ouyang, Yan Li, Fangfang Liu, Qin Ze |
Post-zygotic mosaicism of SMARCB1 variants in patients with rhabdoid tumors: a not so rare condition exposing to successive tumors. Neuro-oncology 2024 8 . Grégory Thomson, Mathilde Filser, Léa Guerrini-Rousseau, Arnault Tauziede-Espariat, Christine Bourneix, Marion Gauthier-Villars, Fatoumata Simaga, Kévin Beccaria, Cécile Faure-Conter, Aurélien Maureille, Hélène Zattara-Cannoni, Nicolas Andre, Natacha Entz-Werle, Laurence Brugieres, Ludovic Mansuy, Philippe Denizeau, Sophie Julia, Olivier Ingster, Sophie Lejeune, Afane Brahimi, Isabelle Coupier, Valérie Bonadona, Olivier Delattre, Julien Masliah-Planchon, Franck Bourdea |
Molecular analysis of 31 cases with fetal skeletal dysplasia. Journal of perinatal medicine 2024 8 . Ümit Ta?demir, Ömer Gökhan Eyisoy, Murad Gezer, Ali Karaman, Oya Demir |
Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions. Kidney international reports 2024 8 9 (8): 2514-2526. Bénédicte Buffin-Meyer, Juliette Richard, Vincent Guigonis, Stefanie Weber, Jens König, Laurence Heidet, Nabila Moussaoui, Jeanne-Pierrette Vu, Stanislas Faguer, Audrey Casemayou, Richa Prakash, Véronique Baudouin, Julien Hogan, Demi Alexandrou, Detlef Bockenhauer, Justine Bacchetta, Bruno Ranchin, Stepanka Pruhova, Jakub Zieg, Annie Lahoche, Christine Okorn, Violetta Antal-Kónya, Denis Morin, Francesca Becherucci, Sandra Habbig, Max C Liebau, Mathilde Mauras, Tom Nijenhuis, Brigitte Llanas, Djalila Mekahli, Julia Thumfart, Burkhard Tönshoff, Laura Massella, Philippe Eckart, Sylvie Cloarec, Alejandro Cruz, Ludwig Patzer, Gwenaelle Roussey, Isabelle Vrillon, Olivier Dunand, Lucie Bessenay, Francesca Taroni, Marcin Zaniew, Ferielle Louillet, Carsten Bergmann, Franz Schaefer, Albertien M van Eerde, Joost P Schanstra, Stéphane Decramer, |
Identification of truncated variants in GLI family zinc finger 3 (GLI3) associated with polydactyly. Journal of orthopaedic surgery and research 2024 7 19 (1): 449. Run-Yan Wang, Qin Xiong, Si-Hua Chang, Jie-Yuan Jin, Rong Xiang, Lei Zeng, Fang |
Clinical implications of the family history in patients with lung cancer: a systematic review of the literature and a new cross-sectional/prospective study design (FAHIC: lung). Journal of translational medicine 2024 7 22 (1): 714. Fabrizio Citarella, Kazuki Takada, Priscilla Cascetta, Pierfilippo Crucitti, Roberta Petti, Bruno Vincenzi, Giuseppe Tonini, Francesco M Venanzi, Alessandra Bulotta, Sara Oresti, Carlo Greco, Sara Ramella, Lucio Crinò, Angelo Delmonte, Roberto Ferrara, Massimo Di Maio, Fiorella Gurrieri, Alessio Cortelli |
Screening and the analysis of genotypic and phenotypic characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Fujian province, China. Frontiers in genetics 2024 7 15 1422214. Jinfu Zhou, Yinglin Zeng, Jianping Tang, Shihong Chen, Guilin Li, Xiaolong Qiu, Peiran Zhao, Ting Huang, Jinying Luo, Na Lin, Liangpu |
Evaluation of pathogenic variants detected in high homology regions of the PMS2 gene. How effective is long-range PCR? Frontiers in oncology 2024 7 14 1390221. Daniele Paixão, Thalitta Hetamaro Ayala Lima, Rafaela Rogério Floriano de Souza, Juliana Emilia Prior Carnavalli, Clarissa Gondim Picanço-Albuquerque, Isabelle Joyce de Lima Silva-Fernandes, Paulo Goberlânio de Barros Silva, Miguel Mitne-Neto, Caroline Mônaco Moreira, Wagner Antônio da Rosa Barate |
Frequency of Mutations in the TPO Gene in Patients with Congenital Hypothyroidism Due to Dyshormonogenesis in Chile. Medicina (Kaunas, Lithuania) 2024 7 60 (7): . María Clara Arteaga-Jacobo, Ángel Roco-Videla, Claudio Villota Arcos, Patricio González-Hormazábal, Víctor Gonzalo-Castro, María Virginia Pérez-Flor |
Performance evaluation of predictive models for detecting MMR gene mutations associated with Lynch syndrome in cancer patients in a Chinese cohort in Taiwan. International journal of cancer 2024 7 . Fei-Hung Hung, Hung-Pin Peng, Chen-Fang Hung, Ling-Ling Hsieh, An-Suei Yang, Yong Alison Wa |
Concurrent of compound heterozygous variant of a novel in-frame deletion and the common hypomorphic haplotype in TBX6 and inherited 17q12 microdeletion in a fetus. BMC pregnancy and childbirth 2024 7 24 (1): 456. Guoqiang Li, Yiyao Chen, Xu Han, Niu Li, Shuyuan |
?-Globin mutations and Genetic Variants in ?-globin Promoters are Associated with Unelevated Hemoglobin F Expression of Atypical ?-thalassemia/HbE. Archives of medical research 2024 7 55 (6): 103055. Surada Satthakarn, Sitthichai Panyas |
Prenatal diagnosis and genetic analysis of small supernumerary marker chromosomes in the eastern chinese han population: A retrospective study of 36 cases. Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology 2024 7 32 (3): 9. Xiali Jiang, Bin Liang, Bilian Chen, Xiaoqing Wu, Yan Wang, Na Lin, Hailong Huang, Liangpu |
Pathogenic relationship between phenotypes of ARPKD and novel compound heterozygous mutations of PKHD1. Frontiers in genetics 2024 7 15 1429336. Xinrong Zhang, Jiebin Wu, Jianteng Zhou, Jie Liang, Yu Han, Yunmeng Qi, Tao Zhu, Dejian Yuan, Zuobin Zhu, Jingfang Zh |
Secondary findings in genes related to cancer phenotypes in Turkish exome sequencing data from 2020 individuals. American journal of medical genetics. Part A 2024 6 e63806. Oguzhan Demir, Kubra Adanur Saglam, Mustafa Yilmaz, Tuna Apuhan, Alper Han Cebi, Ayberk Turkyilm |
Cascade screening for familial hypercholesterolemia from pediatric index cases diagnosed through universal screening. Journal of clinical lipidology 2024 6 . Morgan Lentz, Megan Benoy, Xiao Zhang, Amy L Peters |
Germline variant analysis from a cohort of patients with severe hypertriglyceridemia in Brazil. Molecular genetics and metabolism reports 2024 6 40 101100. Camila Mendes, Thereza Loureiro, Darine Villela, Marcelo Imbroinise Bittencourt, Joselito Sobreira, Diana Bermeo, Mireille Gomes, Dayse Alencar, Luciana Santos Serrao de Castro, Rodrigo Ambrosio Fock, Maria Luisa Tinoco, Henrique Galvão, Cristovam Scapulatempo-Neto, Katia Schiavetti, Andreza A Senerchia, Maria Helane Costa Gurg |
The GSTP1 rs1695 Polymorphism Is Associated with Mercury Levels and Neurodevelopmental Delay in Indigenous Munduruku Children from the Brazilian Amazon. Toxics 2024 6 12 (6): . Mayara Calixto da Silva, Paulo Cesar Basta, Cristina Barroso Hofer, Mirian Akiko Furutani de Oliveira, Joeseph William Kempton, Rogério Adas Ayres de Oliveira, Ana Claudia Santiago de Vasconcellos, Jamila Alessandra Peri |
Spectrum and characteristics of germline PALB2 pathogenic variants in 1556 early-onset breast cancer patients in China. Journal of cancer research and clinical oncology 2024 6 150 (6): 322. Jing Li, Peng He, Qindong Cai, Lili Chen, Yali Wang, Weifeng Cai, Yibin Qiu, Shunyi Liu, Wenhui Guo, Minyan Chen, Yuxiang Lin, Chuan Wang, Fangmeng |
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