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  1. Congenital cataract is a clinically and genetically heterogeneous visual impairment. The aim of this study was to identify causative mutations in five unrelated Chinese families diagnosed with congenital catar...

    Authors: Shan Li, Jianfei Zhang, Yixuan Cao, Yi You and Xiuli Zhao
    Citation: BMC Medical Genetics 2019 20:196
  2. Please be advised that following publication of the original article [1], the authors have identified the following errors with the scientific content.

    Authors: Amjad Khan, Rongrong Wang, Shirui Han, Muhammad Umair, Safdar Abbas, Muhammad Ismail Khan, Mohammad A. Alshabeeb, Majid Alfadheland and Xue Zhang
    Citation: BMC Medical Genetics 2019 20:195

    The original article was published in BMC Medical Genetics 2019 20:166

  3. The deficiency of vitamin D receptor (VDR) or its ligand, vitamin D3, is linked to the development of renal diseases. The TaqI (rs731236) and ApaI (rs7975232) polymorphisms of VDR gene are widely studied for t...

    Authors: Tajamul Hussain, Shaik M. Naushad, Anwar Ahmed, Salman Alamery, Arif A. Mohammed, Mohamed O. Abdelkader and Nasser Abobakr Nasser Alkhrm
    Citation: BMC Medical Genetics 2019 20:193
  4. Synonymous mutations have been identified to play important roles in cancer development, although they do not modify the protein sequences. However, relatively little research has specifically delineated the f...

    Authors: Yannan Bin, Xiaojuan Wang, Le Zhao, Pengbo Wen and Junfeng Xia
    Citation: BMC Medical Genetics 2019 20(Suppl 2):190

    This article is part of a Supplement: Volume 20 Supplement 2

  5. Poor joint flexibility has been repeatedly proposed as a risk factor for muscle injury. The C-to-T polymorphism (rs12722) in the 3′-untranslated region of the collagen type V α1 chain gene (COL5A1) is reportedly ...

    Authors: Eri Miyamoto-Mikami, Naokazu Miyamoto, Hiroshi Kumagai, Kosuke Hirata, Naoki Kikuchi, Hirofumi Zempo, Noriko Kimura, Nobuhiro Kamiya, Hiroaki Kanehisa, Hisashi Naito and Noriyuki Fuku
    Citation: BMC Medical Genetics 2019 20:192
  6. Prostate cancer (Pca) remains one of the leading adult malignancies. PTEN (Phosphatase and Tensin Homolog) mutant is the top common mutated genes in prostate cancer, which makes it a promising biomarker in fut...

    Authors: Jian Sun, Shugen Li, Fei Wang, Caibin Fan and Jianqing Wang
    Citation: BMC Medical Genetics 2019 20:191
  7. Factor V Leiden polymorphism is a well-recognized genetic factor in the etiology of preeclampsia. Considering that Ghana is recording high incidence of preeclampsia, we examined if factor V Leiden is a contrib...

    Authors: G. K. Ababio, K. Adu-Bonsaffoh, E. Abindau, G. Narh, D. Tetteh, F. Botchway, D. Morvey, J. Neequaye and I. K. Quaye
    Citation: BMC Medical Genetics 2019 20:189
  8. Gorlin–Chaudhry–Moss syndrome (GCMS) and Fontaine–Farriaux syndrome (FFS) are extremely rare genetic disorders that share similar clinical manifestations. Because a de novo missense mutation of the solute carr...

    Authors: Jaehui Ryu, Jung Min Ko and Choong-Ho Shin
    Citation: BMC Medical Genetics 2019 20:188
  9. Cohen syndrome (CS) is an uncommon developmental disease with evident clinical heterogeneity. VPS13B is the only gene responsible for CS. Only few sporadic cases of CS have been reported in China.

    Authors: Sha Zhao, Zhenqing Luo, Zhenghui Xiao, Liping Li, Rui Zhao, Yongjia Yang and Yan Zhong
    Citation: BMC Medical Genetics 2019 20:187
  10. Our purpose was to determine if SIRT1 (rs4746720, rs3740051) genotypes have an influence on the development of pituitary adenoma (PA).

    Authors: Rasa Liutkeviciene, Alvita Vilkeviciute, Greta Morkunaite, Brigita Glebauskiene and Loresa Kriauciuniene
    Citation: BMC Medical Genetics 2019 20:185
  11. A 32-base pair deletion (∆32) in the open reading frame (ORF) of C-C motif chemokine receptor 5 (CCR5) seems to be a protective variant against immune system diseases, especially human immunodeficiency virus type...

    Authors: Amir Tajbakhsh, Mostafa Fazeli, Mehdi Rezaee, Faezeh Ghasemi, Mastoureh Momen Heravi, Aida Gholoobi and Zahra Meshkat
    Citation: BMC Medical Genetics 2019 20:184
  12. It is well established that long-term use of aspirin can cause gastric mucosal injury. ACEIs and ARBs are inversely related to gastric ulcer development. This study aimed to evaluate the relationship between SLCO...

    Authors: Lei Duan, Yongyi Bai, Man Li, Huiying Li, Yanping Li and Hongbin Liu
    Citation: BMC Medical Genetics 2019 20:183
  13. Majeed syndrome is a rare, autosomal recessive autoinflammatory disorder first described in 1989. The syndrome starts during infancy with recurrent relapses of osteomyelitis typically associated with fever, co...

    Authors: Jun Liu, Xu-Yun Hu, Zhi-Peng Zhao, Ruo-Lan Guo, Jun Guo, Wei Li, Chan-Juan Hao and Bao-Ping Xu
    Citation: BMC Medical Genetics 2019 20:182
  14. PMM2-CDG, is the most common N-linked glycosylation disorder and subtype among all CDG syndromes, which are a series of genetic disorders involving the synthesis and attachment of glycoproteins and glycolipid ...

    Authors: Zhen Zhang, Ti-Long Huang, Jing Ma, Wen-Ji He and Huaiyu Gu
    Citation: BMC Medical Genetics 2019 20:181
  15. Duchenne muscular dystrophy (DMD) is a severe X-linked recessive neuromuscular disorder. Patients with DMD usually have severe and fatal symptoms, including progressive irreversible muscle weakness and atrophy...

    Authors: Jingjing Zhang, Dingyuan Ma, Gang Liu, Yuguo Wang, An Liu, Li Li, Chunyu Luo, Ping Hu and Zhengfeng Xu
    Citation: BMC Medical Genetics 2019 20:180
  16. In recent years, several GWAS (genome wide association studies) of sleep-related traits have identified a number of SNPs (single nucleotides polymorphism) but their relationships with symptoms of insomnia are ...

    Authors: Daniela Bragantini, Børge Sivertsen, Philip Gehrman, Stian Lydersen and Ismail Cüneyt Güzey
    Citation: BMC Medical Genetics 2019 20:179
  17. Oxytocin receptor (OXTR) gene variants have been shown to affect the prevalence of preterm birth, mode of delivery and oxytocin (OXT) requirements for labor induction and augmentation. We hypothesized that this m...

    Authors: F. Füeg, S. Santos, C. Haslinger, B. Stoiber, L. Schäffer, E. Grünblatt, R. Zimmermann and A. P. Simões-Wüst
    Citation: BMC Medical Genetics 2019 20:178
  18. Lung cancer is a leading cause of death from cancer worldwide, especially non-small cell lung cancer (NSCLC). The marker of progression in lung adenocarcinoma, the main type of NSCLC, has been rarely studied. ...

    Authors: Kun Huang, Erqiang Hu, Wan Li, Junjie Lv, Yuehan He, Gui Deng, Jinling Xiao, Chengcheng Yang, Xinyu Zhao, Lina Chen and Xinyan Wang
    Citation: BMC Medical Genetics 2019 20:177
  19. Pulmonary hypertension (PH) remains one of the rarest and deadliest diseases. Pulmonary Capillary Hemangiomatosis (PCH) is one of the sub-classes of PH. It was identified using histological and molecular tools...

    Authors: Ossama K. Abou Hassan, Wiam Haidar, Mariam Arabi, Hadi Skouri, Fadi Bitar, Georges Nemer and Imad Bou Akl
    Citation: BMC Medical Genetics 2019 20:176
  20. Cancer is a heterogeneous disease with many genetic variations. Lines of evidence have shown copy number variations (CNVs) of certain genes are involved in development and progression of many cancers through t...

    Authors: Xin Shao, Ning Lv, Jie Liao, Jinbo Long, Rui Xue, Ni Ai, Donghang Xu and Xiaohui Fan
    Citation: BMC Medical Genetics 2019 20:175
  21. Polydactyly is one of the most common congenital hand/foot malformations in humans. Mutations in GLI3 have been reported to cause syndromic and non-syndromic forms of preaxial and postaxial polydactylies.

    Authors: Qianqian Zou, Zhigang Tian, Jie Zheng, Xiufang Zhi, Xiaojie Du, Jianbo Shu and Chunquan Cai
    Citation: BMC Medical Genetics 2019 20:174
  22. Familial hypercholesterolemia (FH), an autosomal dominant genetic disorder, is underdiagnosed and undertreated. The majority of FH cases are caused by low density lipoprotein receptor (LDL-R) gene mutations. The ...

    Authors: Weirong Jin, Qiuwang Zhang, Bei Wang, Lili Pan, Hongyou Qin, Daying Yang, Xiangqun Zhou, Yongcai Du, Ling Lin and Michael J. Kutryk
    Citation: BMC Medical Genetics 2019 20:173
  23. Uniparental disomy (UPD) refers to the situation in which two copies of homologous chromosomes or part of a chromosome originate from the one parent and no copy is supplied by the other parent.

    Authors: Dan Li, Yun Wang, Nan Zhao, Liang Chang, Ping Liu, Chan Tian and Jie Qiao
    Citation: BMC Medical Genetics 2019 20:172
  24. Colorectal cancer (CRC) is categorized by alteration of vital pathways such as β-catenin (CTNNB1) mutations, WNT signaling activation, tumor protein 53 (TP53) inactivation, BRAF, Adenomatous polyposis coli (APC) ...

    Authors: Suhail Razak, Nousheen Bibi, Javid Ahmad Dar, Tayyaba Afsar, Ali Almajwal, Zahida Parveen and Sarwat Jahan
    Citation: BMC Medical Genetics 2019 20:171

    The Correction to this article has been published in BMC Medical Genetics 2020 21:39

  25. Whether high sensitivity C-reactive protein (hs-CRP) has a causal effect on coronary heart disease (CHD) is unclear. This study investigated the causal effect of hs-CRP on CHD risk using Mendelian Randomizatio...

    Authors: Qian Zhuang, Chong Shen, Yanchun Chen, Xianghai Zhao, Pengfei Wei, Junxiang Sun, Yanni Ji, Xiaotian Chen and Song Yang
    Citation: BMC Medical Genetics 2019 20:170
  26. Proximal symphalangism is a rare disease with multiple phenotypes including reduced proximal interphalangeal joint space, symphalangism of the 4th and/or 5th finger, as well as hearing loss. At present, at lea...

    Authors: Cong Ma, Lv Liu, Fang-Na Wang, Hai-Shen Tian, Yan Luo, Rong Yu, Liang-Liang Fan and Ya-Li Li
    Citation: BMC Medical Genetics 2019 20:169
  27. Myasthenia gravis (MG) is an autoimmune diseases characterized by fatigue and weakness of skeletal muscles. B-lymphocyte-activating factor (BAFF), an essential factor for B cell differentiation and development, i...

    Authors: Hui Deng, Jianjian Wang, Xiaotong Kong, Huixue Zhang, Tianfeng Wang, Wenqi Tian, Tingting Yi and Lihua Wang
    Citation: BMC Medical Genetics 2019 20:168
  28. Mitochondrial DNA depletion syndromes (MDS) are clinically and phenotypically heterogeneous disorders resulting from nuclear gene mutations. The affected individuals represent a notable reduction in mitochondr...

    Authors: Ghazale Mahjoub, Parham Habibzadeh, Hassan Dastsooz, Malihe Mirzaei, Arghavan Kavosi, Laila Jamali, Haniyeh Javanmardi, Pegah Katibeh, Mohammad Ali Faghihi and Seyed Alireza Dastgheib
    Citation: BMC Medical Genetics 2019 20:167
  29. Limb-girdle muscular dystrophies (LGMDs) are large group of heterogeneous genetic diseases, having a hallmark feature of muscle weakness. Pathogenic mutations in the gene encoding the giant skeletal muscle pro...

    Authors: Amjad Khan, Rongrong Wang, Shirui Han, Muhammad Umair, Safdar Abbas, Muhammad Ismail Khan, Mohammad A. Alshabeeb, Majid Alfadhel and Xue Zhang
    Citation: BMC Medical Genetics 2019 20:166

    The Correction to this article has been published in BMC Medical Genetics 2019 20:195

  30. Treatment of steroid-resistant nephrotic syndrome (SRNS) remains a challenge for paediatricians. SRNS accounts for 10~20% of childhood cases of nephrotic syndrome (NS). Individuals with SRNS overwhelmingly pro...

    Authors: Xia Wu, Wenhong Wang, Yan Liu, Wenyu Chen and Linsheng Zhao
    Citation: BMC Medical Genetics 2019 20:165
  31. Mutations in TSC1 or TSC2 gene cause tuberous sclerosis complex (TSC), an autosomal dominant disorder characterized by the formation of non-malignant hamartomas in multiple vital organs. TSC1 and TSC2 gene produc...

    Authors: Shruthi Sudarshan, Manoj Kumar, Punit Kaur, Atin Kumar, Sethuraman G., Savita Sapra, Sheffali Gulati, Neerja Gupta, Madhulika Kabra and Madhumita Roy Chowdhury
    Citation: BMC Medical Genetics 2019 20:164
  32. (TA) n repeat sequence (rs8175347) of UGT1A1 gene promoter polymorphism is associated with serum bilirubin levels and gallstones among different sickle cell anaemia (SCA) populations. There are no data on UGT1A1 ...

    Authors: Oladele Simeon Olatunya, Dulcineia Martins Albuquerque, Ganiyu Olusola Akanbi, Olufunso Simisola Aduayi, Adekunle Bamidele Taiwo, Opeyemi Ayodeji Faboya, Tolorunju Segun Kayode, Daniela Pinheiro Leonardo, Adekunle Adekile and Fernando Ferreira Costa
    Citation: BMC Medical Genetics 2019 20:160
  33. Associations between IKZF1 gene variants and Acute Lymphoblastic Leukemia (ALL) was recently reported. We examined whether the common IKZF1 polymorphisms rs4132601 T/G and rs111978267 A/G are associated with ALL ...

    Authors: Sana Mahjoub, Vera Chayeb, Hedia Zitouni, Rabeb M. Ghali, Haifa Regaieg, Wassim Y. Almawi and Touhami Mahjoub
    Citation: BMC Medical Genetics 2019 20:159
  34. Orbital/periorbital plexiform neurofibroma (OPPN) can compromise physical appearance and visual function. However, the clinical characteristics and NF1 mutation landscape in patients with heritable OPPN have not ...

    Authors: Peiwei Chai, Yingxiu Luo, Chuandi Zhou, Yefei Wang, Xianqun Fan and Renbing Jia
    Citation: BMC Medical Genetics 2019 20:158
  35. X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disorder caused by germline mutations in the Bruton tyrosine kinase (BTK) gene on X chromosome. These mutations disturb B-cell development, decrease...

    Authors: Mingming Li, Wei Chen, Xiaomeng Sun, Zhipeng Wang, Xun Zou, Hua Wei, Zhan Wang and Wansheng Chen
    Citation: BMC Medical Genetics 2019 20:157
  36. Pompe disease is a lysosomal storage disorder caused by the deficiency of acid alpha-glucosidase (EC. due to mutations in human GAA gene. The objective of the present study was to examine clinical and m...

    Authors: Lukana Ngiwsara, Duangrurdee Wattanasirichaigoon, Thipwimol Tim-Aroon, Kitiwan Rojnueangnit, Saisuda Noojaroen, Arthaporn Khongkraparn, Phannee Sawangareetrakul, James R. Ketudat-Cairns, Ratana Charoenwattanasatien, Voraratt Champattanachai, Chulaluck Kuptanon, Suthipong Pangkanon and Jisnuson Svasti
    Citation: BMC Medical Genetics 2019 20:156
  37. Ischemic stroke (IS) is a serious cardiovascular disease and is associated with several single nucleotide polymorphisms (SNPs). However, the role of Cytochrome P450 family 4 subfamily F member 2 (CYP4F2) gene in ...

    Authors: Yuan Wu, Junjie Zhao, Yonglin Zhao, Tingqin Huang, Xudong Ma, Honggang Pang and Ming Zhang
    Citation: BMC Medical Genetics 2019 20:155
  38. Unique pathogenic mutations in BRCA1 and 2 genes have been reported in different populations of patients originating from the Middle East region. Limited data are available for the Iraqi population. For many reas...

    Authors: Chantal Farra, Christelle Dagher, Lama Hamadeh, Nagi El Saghir and Deborah Mukherji
    Citation: BMC Medical Genetics 2019 20:154
  39. Mutations in more than 52 genes have been identified in isolated congenital cataracts, the majority of which are located in crystalline and connexin (gap junction) genes. An in-frame one amino acid deletion in...

    Authors: Dan Li, Qinghe Jing and Yongxiang Jiang
    Citation: BMC Medical Genetics 2019 20:153
  40. Consanguine families display a high degree of homozygosity which increases the risk of family members suffering from autosomal recessive disorders. Thus, homozygous mutations in monogenic obesity genes may be ...

    Authors: Robina Khan Niazi, Anette Prior Gjesing, Mette Hollensted, Christian Theil Have, Dmitrii Borisevich, Niels Grarup, Oluf Pedersen, Asmat Ullah, Gulbin Shahid, Ifrah Shafqat, Asma Gul and Torben Hansen
    Citation: BMC Medical Genetics 2019 20:152
  41. Genetic testing is becoming an essential tool for breast cancer (BC) diagnosis and treatment pathway, and particularly important for early detection and cancer prevention. The purpose of this study was to expl...

    Authors: Hosneara Akter, Nasima Sultana, Nazrana Martuza, Aaysha Siddiqua, Nushrat Jahan Dity, Md. Atikur Rahaman, Bisan Samara, Ahmed Sayeed, Mohammed Basiruzzaman, Mohammad Mizanur Rahman, Md. Rashidul Hoq, Md. Robed Amin, Md. Abdul Baqui, Marc Woodbury-Smith, K. M. Furkan Uddin, Syed S. Islam…
    Citation: BMC Medical Genetics 2019 20:150
  42. Rotator cuff disease is a widespread musculoskeletal pathology and a major cause of shoulder pain. Studies on familial predisposition suggest that genetic plays a role in the pathogenesis of rotator cuff disea...

    Authors: Umile Giuseppe Longo, Vincenzo Candela, Alessandra Berton, Giuseppe Salvatore, Andrea Guarnieri, Joseph DeAngelis, Ara Nazarian and Vincenzo Denaro
    Citation: BMC Medical Genetics 2019 20:149
  43. Single nucleotide polymorphisms (SNPs) in several CYP genes have been associated with altered breast cancer (BC) risk in different populations. Despite this, there is a dearth of information on the roles of th...

    Authors: Laith N. AL-Eitan, Doaa M. Rababa’h, Mansour A. Alghamdi and Rame H. Khasawneh
    Citation: BMC Medical Genetics 2019 20:148
  44. The SLC29A3 gene, encoding a nucleoside transporter protein, is found in intracellular membranes. Based on the literatures, mutations in this gene cause a wide range of clinical manifestations including H syndrom...

    Authors: Sadaf Noavar, Samira Behroozi, Taraneh Tatarcheh, Farshid Parvini, Majid Foroutan and Hossein Fahimi
    Citation: BMC Medical Genetics 2019 20:147