BMC medical genetics

Keyphrases

Publications

volume 21, number 1, 2021

Min Hu, Yaowu Han, Ying Zhang, Yuanfeng Zhou, Lin Ye
Retraction Note: lncRNA TINCR sponges miR-214-5p to upregulate ROCK1 in hepatocellular carcinoma. BMC medical genetics 21 (1) (2021)

volume 21, number 1, 2020

Zhen Zhang, Yi-Shuang Xiao, Ru Shen, Hong-Chao Jiang, Li Tan, Ren-Qiu Li, Xiao-Hong Yang, Huai-Yu Gu, Wen-Ji He, Jing Ma
Next generation sequencing of RB1gene for the molecular diagnosis of ethnic minority with retinoblastoma in Yunnan. BMC medical genetics 21 (1) (2020)
Alexander Hendricks, Philip Rosenstiel, Sebastian Hinz, Greta Burmeister, Christoph Röcken, Kathrin Boersch, Clemens Schafmayer, Thomas Becker, Andre Franke, Michael Forster
Rapid response of stage IV colorectal cancer with APC/TP53/KRAS mutations to FOLFIRI and Bevacizumab combination chemotherapy: a case report of use of liquid biopsy. BMC medical genetics 21 (1) (2020)
Lifan Huang, Yan Chu, Xiaoqin Huang, Shaohui Ma, Keqin Lin, Kai Huang, Hao Sun, Zhaoqing Yang
Association between gene polymorphisms of voltage-dependent Ca2+ channels and hypertension in the Dai people of China: a case-control study. BMC medical genetics 21 (1) (2020)
Laura Lucaccioni, Beatrice Righi, Greta Miriam Cingolani, Licia Lugli, Elisa Della Casa, Francesco Torcetta, Lorenzo Lughetti, Alberto Berardi
Overwhelming sepsis in a neonate affected by Zellweger syndrome due to a compound heterozygosis in PEX 6 gene: a case report. BMC medical genetics 21 (1) (2020)
Min Hu, Yaowu Han, Ying Zhang, Yuanfeng Zhou, Lin Ye
Retracted Article: lncRNA TINCR sponges miR-214-5p to upregulate ROCK1 in hepatocellular carcinoma. BMC medical genetics 21 (1) (2020)
Fang Liu, Barbara Calhoun, Md Suhail Alam, Miaomiao Sun, Xuechun Wang, Chao Zhang, Kasturi Haldar, Xin Lu
Case report: a synonymous VHL mutation (c.414A > G, p.Pro138Pro) causes pathogenic familial hemangioblastoma through dysregulated splicing. BMC medical genetics 21 (1) (2020)
Amal Bouzid, Adel Tekari, Fida Jbeli, Amine Chakroun, Kirtal Hansdah, Amal Souissi, Neha Singh, Mohamed Ali Mosrati, Imen Achour, Abdelmonem Ghorbel, Ilhem Charfeddine, Puppala Venkat Ramchander, Saber Masmoudi
Osteoprotegerin gene polymorphisms and otosclerosis: an additional genetic association study, multilocus interaction and meta-analysis. BMC medical genetics 21 (1) (2020)
Gerrit Maximilian Grosse, Christine Bauer, Bruno Kopp, Christoph Schrader, Alma Osmanovic
Identification of a rare SEPT9 variant in a family with autosomal dominant Charcot-Marie-Tooth disease. BMC medical genetics 21 (1) (2020)
Bingxin Zhou, Lili Yu, Yan Wang, Wenjing Shang, Yi Xie, Xiong Wang, Fengchan Han
A novel mutation in TRIOBP gene leading to congenital deafness in a Chinese family. BMC medical genetics 21 (1) (2020)
Cai Zhang, Caiqi Du, Juan Ye, Feng Ye, Renfa Wang, Xiaoping Luo, Xiaoping Luo
A novel deletion variant in TRAPPC2 causes spondyloepiphyseal dysplasia tarda in a five-generation Chinese family. BMC medical genetics 21 (1) (2020)
Peiyao Jin, Zhiqiang Li, Xian Xu, Jiangnan He, Jianhua Chen, Xun Xu, Xuan Du, Xuelin Bai, Bo Zhang, Xiangui He, Lina Lu, Jianfeng Zhu, Yongyong Shi, Hai-Dong Zou
Analysis of association between common variants of uncoupling proteins genes and diabetic retinopathy in a Chinese population. BMC medical genetics 21 (1) (2020)
Daijing Nie, Jing Zhang, Fang Wang, Wei Zhang, Lili Liu, Xue Chen, Yang Zhang, Panxiang Cao, Min Xiong, Tong Wang, Ping Wu, Xiaoli Ma, Wenjun Tian, Mangju Wang, Kylan N Chen, Hongxing Liu
Comprehensive analysis on phenotype and genetic basis of Chinese Fanconi anemia patients: dismal outcomes call for nationwide studies. BMC medical genetics 21 (1) (2020)
Halida P Widyastuti, Trina M Norden-Krichmar, Anna Grosberg, Michael V Zaragoza
Gene expression profiling of fibroblasts in a family with LMNA-related cardiomyopathy reveals molecular pathways implicated in disease pathogenesis. BMC medical genetics 21 (1) (2020)
Anna E Mason, David Grier, Sarah F Smithson, Christine P Burren, Elise Gradhand
Post-mortem histology in transient receptor potential cation channel subfamily V member 6 (TRPV6) under-mineralising skeletal dysplasia suggests postnatal skeletal recovery: a case report. BMC medical genetics 21 (1) (2020)
Meriam Hadj Amor, Sarra Dimassi, Amel Taj, Wafa Slimani, Hanene Hannachi, Adnene Mlika, Khaled Ben Helel, Ali Saad, Soumaya Mougou-Zerelli
Neuronal migration genes and a familial translocation t (3;17): candidate genes implicated in the phenotype. BMC medical genetics 21 (1) (2020)
Sibtain Afzal, Khushnooda Ramzan, Sajjad Ullah, Salma M Wakil, Arshad Jamal, Sulman Basit, Ahmed Bilal Waqar
A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients. BMC medical genetics 21 (1) (2020)
Ruimin Cai, Yi Li, Wenyang Wang, Qiang Feng
A novel Cys328-terminator mutant implicated in severe coagulation factor XIII deficiency: a case report. BMC medical genetics 21 (1) (2020)
Leonardo Gatticchi, Jan Miertus, Paolo Enrico Maltese, Simone Bressan, Luca De Antoni, Ludmila Podracká, Lucia Piteková, Vanda Rísová, Mari Mällo, Kaie Jaakson, Kairit Joost, Leonardo Colombo, Matteo Bertelli
A very early diagnosis of Alstrӧm syndrome by next generation sequencing. BMC medical genetics 21 (1) (2020)
Stefanie Scheiper-Welling, Paolo Zuccolini, Oliver Rauh, Britt-Maria Beckmann, Christof Geisen, Anna Moroni, Gerhard Thiel, Silke Kauferstein
Characterization of an N-terminal Nav1.5 channel variant - a potential risk factor for arrhythmias and sudden death? BMC medical genetics 21 (1) (2020)
Brehima Diakite, Yaya Kassogue, Guimogo Dolo, Oumar Kassogue, Mamadou Lassine Keita, Brian Joyce, Erin Neuschler, Jun Wang, Jonah Musa, Cheick Bougari Traore, Bakarou Kamate, Etienne Dembele, Sellama Nadifi, Mercy Isichei, Jane L Holl, Robert Murphy, Seydou Doumbia, Lifang Hou, Mamoudou Maiga
Association of PIN3 16-bp duplication polymorphism of TP53 with breast cancer risk in Mali and a meta-analysis. BMC medical genetics 21 (1) (2020)
Kristina M Jordahl, Amanda I Phipps, Timothy W Randolph, Lesley F Tinker, Rami Nassir, Lifang Hou, Garnet L Anderson, Karl T Kelsey, Emily White, Parveen Bhatti
Mediation by differential DNA methylation of known associations between single nucleotide polymorphisms and bladder cancer risk. BMC medical genetics 21 (1) (2020)
Sara Hanaei, Sina Abdollahzade, Maryam Sadr, Mohammad Hossein Mirbolouk, Ehsan Fattahi, Alireza Khoshnevisan, Nima Rezaei
Association of interleukin 2, interleukin 12, and interferon-γ with intervertebral disc degeneration in Iranian population. BMC medical genetics 21 (1) (2020)
Sally N Adebamowo, Adebowale A Adeyemo, Charles N Rotimi, Olayinka Olaniyan, Richard Offiong, Clement A Adebamowo, null null
Genome-wide association study of prevalent and persistent cervical high-risk human papillomavirus (HPV) infection. BMC medical genetics 21 (1) (2020)
Weiwei Yu, Haiqiang Jin, Jianwen Deng, Ding Nan, Yining Huang
A novel SPAST gene mutation identified in a Chinese family with hereditary spastic paraplegia. BMC medical genetics 21 (1) (2020)
Fan Jiang, Liandong Zuo, Dongzhi Li, Jian Li, Xuewei Tang, Guilan Chen, Jianying Zhou, Hang Lu, Can Liao
Molecular epidemiology and hematologic characterization of δβ-thalassemia and hereditary persistence of fetal hemoglobin in 125,661 families of greater Guangzhou area, the metropolis of southern China. BMC medical genetics 21 (1) (2020)
Xianqing Li, Zongzhe Li, Peng Chen, Yan Wang, Dao Wen Wang, Dao Wu Wang
Whole-exome sequencing identifies a de novo PDE3A variant causing autosomal dominant hypertension with brachydactyly type E syndrome: a case report. BMC medical genetics 21 (1) (2020)
Yu Zhou, Zhicong Wang, Xi Chen, Jianjun Zhang, Ling Yang, Shuping Liu, Yuehong Liu
Identification of differentially expressed miRNAs and mRNAs in synovial of osteoarthritis via RNA-sequencing. BMC medical genetics 21 (1) (2020)
Xiaoli Li, Dingwei Zhang, Jiahui Ding, Li Li, Zhenghui Wang
Identification of ATP2C1 mutations in the patients of Hailey-Hailey disease. BMC medical genetics 21 (1) (2020)
Yinsen Song, Zhengping Dong, Shuying Luo, Junmei Yang, Yuebing Lu, Bo Gao, Tianli Fan
Identification of a compound heterozygote in LYST gene: a case report on Chediak-Higashi syndrome. BMC medical genetics 21 (1) (2020)
Bo Bai, Meng Zhang, Yihao Zhuang, Jirong Zhu, Wenjing Li, Wei Ma, Haibo Chen
The pregnancy-associated spontaneous coronary artery dissection in a young woman with a novel missense mutation in NOTCH1: a case report. BMC medical genetics 21 (1) (2020)
Tao Du, Nan Zeng, Xiaofang Wen, Peizhuang Zhu, Wangen Li
A rare combination of MODY5 and duodenal atresia in a patient: a case report. BMC medical genetics 21 (1) (2020)
Ingrid Bader, Nina McTiernan, Christine Darbakk, Eugen Boltshauser, Rasmus Ree, Sabine Ebner, Johannes A Mayr, Thomas Arnesen
Severe syndromic ID and skewed X-inactivation in a girl with NAA10 dysfunction and a novel heterozygous de novo NAA10 p.(His16Pro) variant - a case report. BMC medical genetics 21 (1) (2020)
Jung Ran Choi, Minhee Jeon, Sang Baek Koh
Association between serotonin 2A receptor (HTR2A) genetic variations and risk of hypertension in a community-based cohort study. BMC medical genetics 21 (1) (2020)
Altaf A Kondkar, Tahira Sultan, Taif A Azad, Essam A Osman, Faisal A Almobarak, Saleh A Al-Obeidan
Association analysis of polymorphisms rs12997 in ACVR1 and rs1043784 in BMP6 genes involved in bone morphogenic protein signaling pathway in primary angle-closure and pseudoexfoliation glaucoma patients of Saudi origin. BMC medical genetics 21 (1) (2020)
Krista Heliö, Tiia Kangas-Kontio, Sini Weckström, Sari U M Vanninen, Katriina Aalto-Setälä, Tero-Pekka Alastalo, Samuel Myllykangas, Tiina M Heliö, Juha W Koskenvuo
DSP p.(Thr2104Glnfs*12) variant presents variably with early onset severe arrhythmias and left ventricular cardiomyopathy. BMC medical genetics 21 (1) (2020)
Parham Habibzadeh, Zahra Tabatabaei, Mohammad Ali Farazi Fard, Laila Jamali, Aazam Hafizi, Pooneh Nikuei, Leila Salarian, Mohammad Hossein Nasr Esfahani, Zahra Anvar, Mohammad Ali Faghihi
Pre-implantation genetic diagnosis in an Iranian family with a novel mutation in MUT gene. BMC medical genetics 21 (1) (2020)
Carla Caffarelli, Stefano Gonnelli, Maria Dea Tomai Pitinca, Silvia Camarri, Antonella Al Refaie, Joussef Hayek, Ranuccio Nuti
Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with bone disease severity in Rett syndrome. BMC medical genetics 21 (1) (2020)
Tawfiq Froukh, Ammar Hawwari, Khalid Al Zubi
Whole exome sequencing highlights variants in association with Keratoconus in Jordanian families. BMC medical genetics 21 (1) (2020)
Oluwafemi G Oluwole, Helena Kuivaniemi, Shameemah Abrahams, William L Haylett, Alvera A Vorster, Carel J van Heerden, Colin P Kenyon, David L Tabb, Michael B Fawale, Taofiki A Sunmonu, Abiodun Ajose, Matthew O Olaogun, Anastasia C Rossouw, Ludo S van Hillegondsberg, Jonathan Carr, Owen A Ross, Morenikeji A Komolafe, Gerard Tromp, Soraya Bardien
Targeted next-generation sequencing identifies novel variants in candidate genes for Parkinson's disease in Black South African and Nigerian patients. BMC medical genetics 21 (1) (2020)
Hamideh Aghaei, Elham Farhadi, Maryam Akhtari, Sara Shahba, Shayan Mostafaei, Ahmadreza Jamshidi, Shiva Poursani, Mahdi Mahmoudi, Mohammad Hossein Nicknam
Copy number variation of IL17RA gene and its association with the ankylosing spondylitis risk in Iranian patients: a case-control study. BMC medical genetics 21 (1) (2020)
Reza Alikhani, Ali Taravati, Seyed Mohammad Bagher Hashemi-Soteh
Association of MUC1 5640G>A and PSCA 5057C>T polymorphisms with the risk of gastric cancer in Northern Iran. BMC medical genetics 21 (1) (2020)

volume 21, number Suppl 1, 2020

Andrey A Marakhonov, Irina A Mishina, Vitaly V Kadyshev, Svetlana A Repina, Maria F Shurygina, Olga A Shchagina, Natalya N Vasserman, Tatyana A Vasilyeva, Sergey I Kutsev, Rena A Zinchenko
Prenatal diagnosis of Norrie disease after whole exome sequencing of an affected proband during an ongoing pregnancy: a case report. BMC medical genetics 21 (Suppl 1) (2020)
Mikhail P Ponomarenko, Ekaterina Sharypova, Irina Drachkova, Irina Chadaeva, Olga Arkova, Olga Podkolodnaya, Petr Ponomarenko, Nikolay Kolchanov, Ludmila Savinkova
Unannotated single nucleotide polymorphisms in the TATA box of erythropoiesis genes show in vitro positive involvements in cognitive and mental disorders. BMC medical genetics 21 (Suppl 1) (2020)
Xianping Meng, Hongyan Lu, Xia Jiang, Bin Huang, Song Wu, Guiping Yu, Hongbao Cao
Understanding the molecular association between hyperkalemia and lung squamous cell carcinomas. BMC medical genetics 21 (Suppl 1) (2020)
Peter A Sparber, Margarita Sharova, Alexandra Filatova, Olga Shchagina, Evgeniya Ivanova, Elena Dadali, Mikhail Skoblov
Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case report. BMC medical genetics 21 (Suppl 1) (2020)
Ancha V Baranova, Elena Yu Leberfarb, Georgy S Lebedev, Yuriy L Orlov
Medical genetics studies at the SBB-2019 and MGNGS-2019 conferences. BMC medical genetics 21 (Suppl 1) (2020)
Evgeniya G Poltavskaya, Olga Yu Fedorenko, Natalya M Vyalova, Elena G Kornetova, Nikolay A Bokhan, Anton J M Loonen, Svetlana A Ivanova
Genetic polymorphisms of PIP5K2A and course of schizophrenia. BMC medical genetics 21 (Suppl 1) (2020)
Xixi Xiang, Di Yuan, Peiyan Kong, Ting Chen, Han Yao, Shijia Lin, Xi Zhang, Hongbao Cao
Deep vein thrombosis inhibitor may play a therapeutic role in post-stroke patients. BMC medical genetics 21 (Suppl 1) (2020)

volume 21, number Suppl 2, 2020

Aroon T Chande, Lavanya Rishishwar, Andrew B Conley, Augusto Valderrama-Aguirre, Miguel A Medina-Rivas, I King Jordan
Ancestry effects on type 2 diabetes genetic risk inference in Hispanic/Latino populations. BMC medical genetics 21 (Suppl 2) (2020)