Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 1236 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 |
| [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 |
| [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 |
| 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, |
| 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 |
- Page last reviewed:Feb 1, 2024
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