Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 1167 Records) |
Query Trace: Genetic counseling[original query] |
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Breast cancers in monoallelic MUTYH germline mutation carriers have clinicopathological features overlapping with those in BRCA1 germline mutation carriers. Breast cancer research and treatment 2023 12 . Aysenur Keske, Paul Weisman, Monica Ospina-Romero, Prachi Raut, Kelcy Smith-Simmer, Anna L Zakas, Christopher Flynn, Jin |
Case report: Whole-exome sequencing for a hereditary elliptocytosis case with an unexpectedly low HbA. Frontiers in medicine 2023 12 10 1301760. Lu Pang, Ziyi Zeng, Yadi Ding, Haiming Huang, Haixia |
Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions. EBioMedicine 2023 12 99 104931. Jean-Loup Méreaux, Claire-Sophie Davoine, David Pellerin, Giulia Coarelli, Marie Coutelier, Claire Ewenczyk, Marie-Lorraine Monin, Mathieu Anheim, Isabelle Le Ber, Stéphane Thobois, Florent Gobert, Léna Guillot-Noël, Sylvie Forlani, Ludmila Jornea, Anna Heinzmann, Aude Sangare, Bertrand Gaymard, Lucie Guyant-Maréchal, Perrine Charles, Cecilia Marelli, Jérôme Honnorat, Bertrand Degos, François Tison, Sophie Sangla, Marion Simonetta-Moreau, François Salachas, Maya Tchikviladzé, Giovanni Castelnovo, Fanny Mochel, Stephan Klebe, Anna Castrioto, Silvia Fenu, Aurélie Méneret, Frédéric Bourdain, Marion Wandzel, Virginie Roth, Céline Bonnet, Florence Riant, Giovanni Stevanin, Sandrine Noël, Anne-Laure Fauret-Amsellem, Melanie Bahlo, Paul J Lockhart, Bernard Brais, Mathilde Renaud, Alexis Brice, Alexandra Du |
Development and validation of a new genotype-phenotype correlation for Niemann-Pick disease type C1. Journal of inherited metabolic disease 2023 12 . Huan Liang, Xia Zhan, Yu Wang, Gustavo H B Maegawa, Huiwen Zha |
Carrier screening for present disease prevalence and recessive genetic disorder in Taiwanese population. Journal of human genetics 2023 12 . Li Shan Chen, Cheng Wei Yu, Wei Jiun Li, Wen Chi Hsieh, Yi Ping |
Primary carnitine deficiency: Estimation of prevalence in Chinese population and insights into newborn screening. Frontiers in genetics 2023 12 14 1304458. Xiaoshan Ji, Yanzhuang Ge, Qi Ni, Suhua Xu, Zhongmeng Xiong, Lin Yang, Liyuan Hu, Yun Cao, Yulan Lu, Qiufen Wei, Wenqing Kang, Deyi Zhuang, Wenhao Zhou, Xinran Do |
An overview of CFTR mutation profiles and assisted reproductive technology outcomes in Chinese patients with congenital obstructive azoospermia. Journal of assisted reproduction and genetics 2023 12 . Meng Wang, Juepu Zhou, Rui Long, Ruolin Mao, Limin Gao, Xiangfei Wang, Yinwei Chen, Lei Jin, Lixia Z |
Characterization of D4Z4 alleles and assessment of de novo cases in Facioscapulohumeral dystrophy (FSHD) in a cohort of Italian families. Clinical genetics 2023 12 . Claudia Strafella, Luca Colantoni, Domenica Megalizzi, Giulia Trastulli, Emma Proietti Piorgo, Guido Primiano, Cristina Sancricca, Giulia Ricci, Gabriele Siciliano, Carlo Caltagirone, Massimiliano Filosto, Giorgio Tasca, Enzo Ricci, Raffaella Cascella, Emiliano Giardi |
Sex, genotype, and liver volume progression as risk of hospitalization determinants in autosomal dominant polycystic liver disease. Gastroenterology 2023 12 . Ria Schönauer, Dana Sierks, Melissa Boerrigter, Tabinda Jawaid, Lea Caroff, Marie-Pierre Audrezet, Anja Friedrich, Melissa Shaw, Jan Degenhardt, Mirjam Forberger, Jonathan de Fallois, Henrik Bläker, Carsten Bergmann, Juliana Gödiker, Philipp Schindler, Bernhard Schlevogt, Roman U Müller, Thomas Berg, Ilse Patterson, William J Griffiths, John A Sayer, , Bernt Popp, Vicente E Torres, Marie C Hogan, Stefan Somlo, Terry J Watnick, Frederik Nevens, Whitney Besse, Emilie Cornec-Le Gall, Peter C Harris, Joost P H Drenth, Jan Halbritt |
Genotype-phenotype correlations of neurofibromatosis type 1: a cross-sectional study from a large Chinese cohort. Journal of neurology 2023 12 . Beiyao Zhu, Tingting Zheng, Wei Wang, Yihui Gu, Chengjiang Wei, Qingfeng Li, Zhichao Wa |
Prenatal genetic diagnosis associated with fetal ventricular septal defect: an assessment based on chromosomal microarray analysis and exome sequencing. Frontiers in genetics 2023 12 14 1260995. You Wang, Ru Li, Fang Fu, Ruibin Huang, Dongzhi Li, Can Li |
Unveiling the SOD1-mediated ALS phenotype: insights from a comprehensive meta-analysis. Journal of neurology 2023 11 . Teuta Domi, Paride Schito, Giacomo Sferruzza, Tommaso Russo, Laura Pozzi, Federica Agosta, Paola Carrera, Nilo Riva, Massimo Filippi, Angelo Quattrini, Yuri Matteo Falzo |
[BRCA2 Mutation Profile in a Proband with Hereditary Breast and Ovarian Cancer-Two Germline Pathogenic Variants Aligned in the Cis Position]. Gan to kagaku ryoho. Cancer & chemotherapy 2023 11 50 (10): 1089-1091. Seigo Yukisawa, Toshiyuki Kakinuma, Junko Yotsumoto, Kentaro Kawakami, Junji Furukawa, Hiroharu Shinoza |
Prenatal diagnosis of fetal digestive system malformations and pregnancy outcomes at a tertiary referral center in Fujian, China: A retrospective study. Heliyon 2023 11 9 (11): e21546. Bin Liang, Fang Yang, Hailong Huang, Zhaozhen Liu, Qingqiang Ji, Yan Wang, Xiaoqing Wu, Yuan Lin, Lanting Xie, Wantong Zhao, Hua Cao, Liangpu Xu, Na L |
Whole exome sequencing reveals novel candidate variants for endometriosis utilizing multiple affected members in a single family. Molecular genetics & genomic medicine 2023 11 e2312. Busra Gizem Kina, Nura Fitnat Topbas Selcuki, Pinar Yalcin Bahat, Taner Usta, Sevcan Aydin, Nilufer Rahmioglu, Feyza Nur Tuncer, Engin Or |
[Genetic testing and clinical analysis of a patient with Dilated cardiomyopathy due to variant of FLNC gene]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 11 40 (12): 1551-1555. Yanlong Ren, Yahui Zhang, Xiaoping Zhang, Yueli Wang, Xuxia Liu, Jin Sheng, Shangqiu Ning, Wenxian Liu, Xiaoyan |
[Clinical and genetic analysis of a patient with Loeys-Dietz syndrome due to variant of TGFBR2 gene]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 11 40 (12): 1531-1535. Yueli Wang, Zhihua Kong, Long Wan, Aoxue Wang, Xiaoyan |
Exome Sequencing Identifies Multiple Genetic Diagnoses in Children with Syndromic Growth Disorders. The Journal of pediatrics 2023 11 113841. Raissa Carneiro Rezende, Nathalia Liberatoscioli Menezes de Andrade, Naiara Castelo Branco Dantas, Laurana de Polli Cellin, Ana Cristina Victorino Krepischi, Antonio Marcondes Lerario, Alexander Augusto de Lima Jor |
Whole-exome sequencing revealed novel genetic alterations in patients with tetralogy of Fallot. Translational pediatrics 2023 11 12 (10): 1835-1841. Yu Pan, Manli Liu, Songsong Zhang, Huaxian Mei, Jing |
[Clinical phenotype and genetic analysis of patients with left ventricular noncompaction caused by the biallelic mutation of MYBPC3 and MYH7]. Zhonghua xin xue guan bing za zhi 2023 11 51 (11): 1160-1165. Y H Zhang, X Y Li, B R Song, Y L Wang, J R Zhang, Y L R |
Prenatal diagnosis and outcomes in fetuses with duplex kidney. International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics 2024 1 . Chunling Ma, Ruibin Huang, Fang Fu, Hang Zhou, You Wang, Shujuan Yan, Fei Guo, Huanyi Chen, Lushan Li, Xiangyi Jing, Fucheng Li, Jin Han, Dongzhi Li, Ru Li, Can Li |
Germline mutations in cancer predisposition genes among pediatric patients with cancer and congenital anomalies. Pediatric research 2024 1 . Gustavo D Dangoni, Anne Caroline B Teixeira, Silvia S da Costa, Marília O Scliar, Laura M L Carvalho, Luciana N Silva, Estela M Novak, Carolina S C Vince, Mariana C Maschietto, Sofia M M Sugayama, Vicente Odone-Filho, Ana Cristina V Krepisc |
Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families. Neurogenetics 2024 1 . Sylvia Safwat, Kyle P Flannery, Ahmed A El Beheiry, Mohamed M Mokhtar, Ebtesam Abdalla, M Chiara Manzi |
Genetic Risk Factors for Early-Onset Merkel Cell Carcinoma. JAMA dermatology 2024 1 . Noreen Mohsin, Devin Hunt, Jia Yan, Austin J Jabbour, Paul Nghiem, Jaehyuk Choi, Yue Zhang, Alexandra F Freeman, Jenna R E Bergerson, Stefania Dell'Orso, Kristina Lachance, Rima Kulikauskas, Loren Collado, Wenjia Cao, Justin Lack, Morgan Similuk, Bryce A Seifert, Rajarshi Ghosh, Magdalena A Walkiewicz, Isaac Browne |
Hereditary deafness carrier screening in 9,993 Chinese individuals. Frontiers in genetics 2024 1 14 1327258. Yanqiu Liu, Lei Wang, Lanlai Yuan, Yaqing Li, Zhengshi Chen, Bicheng Yang, Daqing Wang, Yu S |
A Novel Deleterious MYO15A Gene Mutation Causes Nonsyndromic Hearing Loss. Iranian journal of otorhinolaryngology 2024 1 36 (1): 355-360. Mostafa Neissi, Adnan Issa Al-Badran, Javad Mohammadi-A |
MPZL2-a common autosomal recessive deafness gene related to moderate sensorineural hearing loss in the Chinese population. BMC medical genomics 2024 1 17 (1): 32. Lang Zhang, Jin-Yuan Yang, Qiu-Quan Wang, Xue Gao, Guo-Jian Wang, Ming-Yu Han, Dong-Yang Kang, Dong-Yi Han, Sha-Sha Huang, Yong-Yi Yu |
Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia. Journal of translational medicine 2024 1 22 (1): 75. Yi Jiang, Xueshan Xiao, Wenmin Sun, Yingwei Wang, Shiqiang Li, Xiaoyun Jia, Panfeng Wang, J Fielding Hejtmancik, Qingjiong Zha |
Identification of Rare Damaging Missense and Loss of Function Variants in GWAS Loci Using Genome Sequencing Data from Two Cohorts of Familial Late-Onset Alzheimer's Disease. medRxiv : the preprint server for health sciences 2024 1 . 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, Tatiana Foroud, Badri N Vardarajan, Richard Maye |
Compound heterozygous WDR19 variants associated with nephronophthisis, Caroli disease, refractory epilepsy and congenital bilateral central blindness: Case report. Heliyon 2024 1 10 (1): e23257. Xianglian Tang, Sheng Yi, Zailong Qin, Shang Yi, Junjie Chen, Qi Yang, Shanshan Li, Jingsi L |
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- Page last updated:Mar 25, 2024
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