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  1. Autosomal dominant familial hypercholesterolemia (ADH; MIM#143890) is one of the most common monogenic disorders characterized by elevated circulatory LDL cholesterol. Initial studies in humans with ADH identi...

    Authors: Babunageswararao Kanuri, Vincent Fong, April Haller, David Y. Hui and Shailendra B. Patel

    Citation: BMC Medical Genetics 2020 21:234

    Content type: Research article

    Published on:

  2. Despite the progress in the knowledge of Huntington disease (HD) in recent years, the epidemiology continues uncertain, so the study of incidence becomes relevant. This is important since various factors (type...

    Authors: Paula Sienes Bailo, Raquel Lahoz, Juan Pelegrín Sánchez Marín and Silvia Izquierdo Álvarez

    Citation: BMC Medical Genetics 2020 21:233

    Content type: Research article

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  3. Previous studies evaluated the association of IL-4 C33T polymorphism and risk of bronchial asthma but failed to establish a consistent conclusive association. In the present meta-analysis, we intend to define ...

    Authors: Danyal Imani, Mohammad Masoud Eslami, Gholamreza Anani-Sarab, Mansur Aliyu, Bahman Razi and Ramazan Rezaei

    Citation: BMC Medical Genetics 2020 21:232

    Content type: Research article

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  4. Genetic factors may influence the susceptibility to high-risk (hr) human papillomavirus (HPV) infection and persistence. We conducted the first genome-wide association study (GWAS) to identify variants associa...

    Authors: Sally N. Adebamowo, Adebowale A. Adeyemo, Charles N. Rotimi, Olayinka Olaniyan, Richard Offiong and Clement A. Adebamowo

    Citation: BMC Medical Genetics 2020 21:231

    Content type: Research article

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  5. Retinoblastoma is a rare intraocular malignancy and typically initiated by inactivating biallelic mutations of RB1 gene. Each year, ~ 8000 children worldwide are diagnosed for retinoblastoma. In high-income count...

    Authors: Zhen Zhang, Yi-shuang Xiao, Ru Shen, Hong-chao Jiang, Li Tan, Ren-qiu Li, Xiao-hong Yang, Huai-yu Gu, Wen-Ji He and Jing Ma

    Citation: BMC Medical Genetics 2020 21:230

    Content type: Research article

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  6. Peroxisome biogenesis disorders (PBDs) are a group of metabolic diseases caused by dysfunction of peroxisomes. Different forms of PBDs are described; the most severe one is the Zellweger syndrome (ZS). We repo...

    Authors: Laura Lucaccioni, Beatrice Righi, Greta Miriam Cingolani, Licia Lugli, Elisa Della Casa, Francesco Torcetta, Lorenzo Iughetti and Alberto Berardi

    Citation: BMC Medical Genetics 2020 21:229

    Content type: Case report

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  7. Though bladder cancer has been the subject of many well-powered genome-wide association studies, the mechanisms involving bladder-cancer-associated single nucleotide polymorphisms (SNPs) remain largely unknown...

    Authors: Kristina M. Jordahl, Amanda I. Phipps, Timothy W. Randolph, Lesley F. Tinker, Rami Nassir, Lifang Hou, Garnet L. Anderson, Karl T. Kelsey, Emily White and Parveen Bhatti

    Citation: BMC Medical Genetics 2020 21:228

    Content type: Research article

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  8. Alterations in the SCN5A gene encoding the cardiac sodium channel Nav1.5 have been linked to a number of arrhythmia syndromes and diseases including long-QT syndrome (LQTS), Brugada syndrome (BrS) and dilative ca...

    Authors: Stefanie Scheiper-Welling, Paolo Zuccolini, Oliver Rauh, Britt-Maria Beckmann, Christof Geisen, Anna Moroni, Gerhard Thiel and Silke Kauferstein

    Citation: BMC Medical Genetics 2020 21:227

    Content type: Research article

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  9. Clinical genetic diagnosis of non-syndromic hearing loss (NSHL) is quite challenging. With regard to its high heterogeneity as well as large size of some genes, it is also really difficult to detect causative ...

    Authors: Somayeh Khatami, Masomeh Askari, Fatemeh Bahreini, Morteza Hashemzadeh-Chaleshtori, Saeed Hematian and Samira Asgharzade

    Citation: BMC Medical Genetics 2020 21:226

    Content type: Research article

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  10. Polymorphisms in genes modulating xenobiotics metabolism, in particular the ABCC2 c.3972C > T single nucleotide polymorphism (SNP) at exon 28, have been suggested to increase primary liver cancer (PLC) risk. C...

    Authors: Giovanni Brandi, Alessandro Rizzo, Marzia Deserti, Valeria Relli, Valentina Indio, Sofia Bin, Milena Pariali, Andrea Palloni, Stefania De Lorenzo, Francesco Tovoli and Simona Tavolari

    Citation: BMC Medical Genetics 2020 21:225

    Content type: Research article

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  11. Neonatal thrombocytopenia is common in preterm and term neonates admitted to neonatal intensive care units. The etiology behind neonatal thrombocytopenia is complex. Inherited thrombocytopenia is rare and usua...

    Authors: Xin Li, Ying Li, Min Lei, Jing Tian, Zuocheng Yang, Shoujin Kuang, Yanjuan Tan and Tao Bo

    Citation: BMC Medical Genetics 2020 21:224

    Content type: Case report

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  12. Hereditary spherocytosis (HS) is the most common haemolytic anaemia caused by congenital membrane defects of red blood cells. The name derives from the presence of spherical red blood cells in the peripheral b...

    Authors: Senmao Chai, Rong Jiao, Xiaodong Sun, Pan Fu, Qiang Zhao and Ming Sang

    Citation: BMC Medical Genetics 2020 21:223

    Content type: Case report

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  13. Duchenne muscular dystrophies (DMDs) are X-linked recessive neuromuscular disorders with malfunction or absence of the Dystrophin protein. Precise genetic diagnosis is critical for proper planning of patient c...

    Authors: Yan Wang, Yuhan Chen, San Mei Wang, Xin Liu, Ya Nan Gu and Zhichun Feng

    Citation: BMC Medical Genetics 2020 21:222

    Content type: Case report

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  14. Hereditary intrinsic factor deficiency is a rare disease characterized by cobalamin deficiency with the lack of gastric intrinsic factor because of gastric intrinsic factor (GIF) mutations. Patients usually prese...

    Authors: Jing Ruan, Bing Han, Junling Zhuang, Miao Chen, Fangfei Chen, Yuzhou Huang and Wenzhe Zhou

    Citation: BMC Medical Genetics 2020 21:221

    Content type: Case report

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  15. Primary ciliary dyskinesia (PCD) is a highly heterogeneous genetic disorder caused by defects in motile cilia. The hallmark features of PCD are the chronic infections of the respiratory tract, moreover, clinic...

    Authors: Maria Santa Rocca, Gioia Piatti, Angela Michelucci, Raffaella Guazzo, Veronica Bertini, Cinzia Vinanzi, Maria Adelaide Caligo, Angelo Valetto and Carlo Foresta

    Citation: BMC Medical Genetics 2020 21:220

    Content type: Case report

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  16. Damaging variants in TRIO have been associated with moderate to severe neurodevelopmental disorders in humans. While recent work has delineated the positional effect of missense variation on the resulting phenoty...

    Authors: Laura Schultz-Rogers, Karthik Muthusamy, Filippo Pinto e Vairo, Eric W. Klee and Brendan Lanpher

    Citation: BMC Medical Genetics 2020 21:219

    Content type: Case report

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  17. Mitochondrial encephalomyopathy caused by bi-allelic deleterious variants in TARS2 is rare. To date, only two pedigrees were reported in the literature and the connection between the gene and disease needs furthe...

    Authors: Xiaojing Li, Bingwei Peng, Chi Hou, Jinliang Li, Yiru Zeng, Wenxiao Wu, Yinting Liao, Yang Tian and Wen-Xiong Chen

    Citation: BMC Medical Genetics 2020 21:217

    Content type: Case report

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  18. To determine the carrier frequency and pathogenic variants of common genetic disorders in the north Indian population by using next generation sequencing (NGS).

    Authors: Kanika Singh, Sunita Bijarnia-Mahay, V. L. Ramprasad, Ratna Dua Puri, Sandhya Nair, Sheetal Sharda, Renu Saxena, Sudha Kohli, Samarth Kulshreshtha, Indrani Ganguli, Kanwal Gujral and Ishwar C. Verma

    Citation: BMC Medical Genetics 2020 21:216

    Content type: Research article

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  19. SHORT syndrome is a rare genetic disease named with the acronyms of short stature, hyper-extensibility of joints, ocular depression, Rieger anomaly and teething delay. It is inherited in an autosomal dominant ...

    Authors: Liying Sun, Qianwen Zhang, Qun Li, Yijun Tang, Yirou Wang, Xin Li, Niu Li, Jian Wang and Xiumin Wang

    Citation: BMC Medical Genetics 2020 21:215

    Content type: Case report

    Published on:

  20. Kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is a rare autosomal recessive connective tissue disorder characterized by progressive kyphoscoliosis, congenital muscular hypotonia, marked joint hypermobility, and...

    Authors: Xiaolin Ni, Chenxi Jin, Yan Jiang, Ou Wang, Mei Li, Xiaoping Xing and Weibo Xia

    Citation: BMC Medical Genetics 2020 21:214

    Content type: Case report

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  21. Stargardt disease (STGD1) is a common recessive hereditary macular dystrophy in early adulthood or childhood, with an estimated prevalence of 1:8000 to 1:10,000. ABCA4 is the causative gene for STGD1. The current...

    Authors: Fang-Yuan Hu, Feng-Juan Gao, Jian-kang Li, Ping Xu, Dan-Dan Wang, Sheng-Hai Zhang and Ji-Hong Wu

    Citation: BMC Medical Genetics 2020 21:213

    Content type: Research article

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  22. PGF and TNFAIP2 are important angiogenic factors, which were abnormal expression in cervical cancer (CC). However, there is currently no report investigating the relationship of PGF and TNFAIP2 gene polymorphisms...

    Authors: Zumurelaiti Ainiwaer, Reyilanmu Maisaidi, Jing Liu, Lili Han, Sulaiya Husaiyin, Jing Lu and Mayinuer Niyazi

    Citation: BMC Medical Genetics 2020 21:212

    Content type: Research article

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  23. Myotonia congenita is a rare neuromuscular disease, which is characterized by a delay in muscle relaxation after evoked or voluntary contraction. Myotonia congenita can be inherited in a dominant (Thomsen dise...

    Authors: Peter Sparber, Margarita Sharova, Alexandra Filatova, Olga Shchagina, Evgeniya Ivanova, Elena Dadali and Mikhail Skoblov

    Citation: BMC Medical Genetics 2020 21(Suppl 1):197

    Content type: Case Report

    Published on:

    This article is part of a Supplement: Volume 21 Supplement 1

  24. Previous studies indicated a strong association between hyperkalemia and lung squamous cell carcinomas (LSCC). However, the underlying mechanism is not fully understood so far.

    Authors: Xianping Meng, Hongyan Lu, Xia Jiang, Bin Huang, Song Wu, Guiping Yu and Hongbao Cao

    Citation: BMC Medical Genetics 2020 21(Suppl 1):176

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 21 Supplement 1

  25. Deep vein thrombosis (DVT) is associated with stroke. Here, we hypothesize that genes associated with DVT may also play roles in the development of stroke.

    Authors: Xixi Xiang, Di Yuan, Peiyan Kong, Ting Chen, Han Yao, Shijia Lin, Xi Zhang and Hongbao Cao

    Citation: BMC Medical Genetics 2020 21(Suppl 1):174

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 21 Supplement 1

  26. Schizophrenia is a severe highly heritable mental disorder. The clinical heterogeneity of schizophrenia is expressed in the difference in the leading symptoms and course of the disease. Identifying the genetic...

    Authors: Evgeniya G. Poltavskaya, Olga Yu. Fedorenko, Natalya M. Vyalova, Elena G. Kornetova, Nikolay A. Bokhan, Anton J. M. Loonen and Svetlana A. Ivanova

    Citation: BMC Medical Genetics 2020 21(Suppl 1):171

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 21 Supplement 1

  27. Hemoglobin is a tetramer consisting of two α-chains and two β-chains of globin. Hereditary aberrations in the synthesis of one of the globin chains are at the root of thalassemia, one of the most prevalent mon...

    Authors: Mikhail Ponomarenko, Ekaterina Sharypova, Irina Drachkova, Irina Chadaeva, Olga Arkova, Olga Podkolodnaya, Petr Ponomarenko, Nikolay Kolchanov and Ludmila Savinkova

    Citation: BMC Medical Genetics 2020 21(Suppl 1):165

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 21 Supplement 1

  28. Hereditary ophthalmic pathology is a genetically heterogeneous group of diseases that occur either as an isolated eye disorder or as a symptom of hereditary syndromes (chromosomal or monogenic). Thus, a diagno...

    Authors: Andrey V. 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 and Rena A. Zinchenko

    Citation: BMC Medical Genetics 2020 21(Suppl 1):156

    Content type: Case Report

    Published on:

    This article is part of a Supplement: Volume 21 Supplement 1

  29. Marfan syndrome (MFS) is a common autosomal dominant inherited disease, and the occurrence rate is around 0.1–0.2‰. The causative variant of FNB1 gene accounts for approximately 70–80% of all MFS cases. In this s...

    Authors: Yuping Niu, Sexin Huang, Zeyu Wang, Peiwen Xu, Lijuan Wang, Jie Li, Ming Gao, Xuan Gao and Yuan Gao

    Citation: BMC Medical Genetics 2020 21:211

    Content type: Case report

    Published on:

  30. Replication studies showed conflicting effects of ABCG2 and SLC2A9 polymorphisms on gout and serum urate. This meta-analysis therefore aimed to pool their effects across studies.

    Authors: Thitiya Lukkunaprasit, Sasivimol Rattanasiri, Saowalak Turongkaravee, Naravut Suvannang, Atiporn Ingsathit, John Attia and Ammarin Thakkinstian

    Citation: BMC Medical Genetics 2020 21:210

    Content type: Research article

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  31. Epilepsy with intellectual disability limited to females (Epileptic encephalopathy, early infantile, 9; EIEE9) is a rare early infantile epileptic encephalopathy characterized by an unusual X-linked inheritanc...

    Authors: Anastasiya Aleksandrovna Kozina, Elena Grigorievna Okuneva, Natalia Vladimirovna Baryshnikova, Inessa Dmitrievna Fedonyuk, Alexey Aleksandrovich Kholin, Elena Stepanovna Il’ina, Anna Yurievna Krasnenko, Ivan Fedorovich Stetsenko, Nikolay Alekseevich Plotnikov, Olesia Igorevna Klimchuk, Ekaterina Ivanovna Surkova and Valery Vladimirovich Ilinsky

    Citation: BMC Medical Genetics 2020 21:209

    Content type: Case report

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  32. Peri-implantitis is an inflammation that occurs around the implant, resulting in varying degrees of inflammatory damage to the soft and hard tissues. The characteristic criterion is the loss of the supporting ...

    Authors: Yang Li, Jina Zheng, Chanjuan Gong, Kengfu Lan, Yuqing Shen and Xiaojun Ding

    Citation: BMC Medical Genetics 2020 21:208

    Content type: Research article

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  33. Apoptosis is a type of cell death involved in different pathways inherent to the cell and the evasion from this mechanism has been related to cancer, although this process remains not very well comprehended. G...

    Authors: Giovanna Chaves Cavalcante, Milene Raiol de Moraes, Cristina Maria Duarte Valente, Caio Santos Silva, Antônio André Conde Modesto, Paula Baraúna de Assumpção, Paulo Pimentel de Assumpção, Sidney Santos and Ândrea Ribeiro-dos-Santos

    Citation: BMC Medical Genetics 2020 21:207

    Content type: Research article

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  34. The effect of the p.Arg72Pro variant of the P53 gene on the risk of development ofbreast cancer remains variable in populations. However, the use ofstrategies such aspoolingage-matched controls with disease may p...

    Authors: Brehima Diakite, Yaya Kassogue, Guimogo Dolo, Jun Wang, Erin Neuschler, Oumar Kassogue, Mamadou L Keita, Cheick B Traore, Bakarou Kamate, Etienne Dembele, Sellama Nadifi, Robert L Murphy, Seydou Doumbia, Lifang Hou and Mamoudou Maiga

    Citation: BMC Medical Genetics 2020 21:206

    Content type: Research article

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  35. CpG methylation of tumor suppressor genes occurs in the early stage of carcinogenesis. Detecting risk factors for aberrant CpG methylation is clinically important for predicting cancer development. DNA methylt...

    Authors: Hikaru Takano, Tomoyuki Shibata, Masakatsu Nakamura, Naoko Sakurai, Tasuku Hayashi, Masafumi Ota, Tomoe Nomura-Horita, Ranji Hayashi, Takeo Shimasaki, Toshimi Otsuka, Tomomitsu Tahara and Tomiyasu Arisawa

    Citation: BMC Medical Genetics 2020 21:205

    Content type: Research article

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  36. Genetic analyses have identified many variants associated with the risk of inflammatory bowel disease (IBD) development. Among these variants, the ones located within the NOD2 gene have the highest odds ratio of ...

    Authors: Williams Turpin, Larbi Bedrani, Osvaldo Espin-Garcia, Wei Xu, Mark S. Silverberg, Michelle I. Smith, Juan Antonio Raygoza Garay, Sun-Ho Lee, David S. Guttman, Anne Griffiths, Paul Moayyedi, Remo Panaccione, Hien Huynh, Hillary A. Steinhart, Guy Aumais, Levinus A. Dieleman…

    Citation: BMC Medical Genetics 2020 21:204

    Content type: Research article

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  37. HbH disease results from dysfunction of three, less commonly two, α-globin genes through various combinations of deletion and non-deletion mutations. Characterization of the mutations and the underlying genoty...

    Authors: Rawand P. Shamoon, Ahmed K. Yassin, Ranan K. Polus and Mohamad D. Ali

    Citation: BMC Medical Genetics 2020 21:203

    Content type: Research article

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  38. Metanephric adenoma (MA) is a rare benign renal neoplasm. On occasion, MA can be difficult to differentiate from renal malignancies such as papillary renal cell carcinoma in adults and Wilms̕ tumor in children...

    Authors: Aida Catic, Amina Kurtovic-Kozaric, Ardis Sophian, Lech Mazur, Faruk Skenderi, Ondrej Hes, Stephen Rohan, Dinesh Rakheja, Jillene Kogan and Michael R. Pins

    Citation: BMC Medical Genetics 2020 21:202

    Content type: Research article

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  39. CDKN2A hypermethylation is among the major events associated with carcinogenesis and is also observed in non-neoplastic colonic mucosa in patients with ulcerative colitis (UC). Macrophage migration inhibitory fac...

    Authors: Naoko Sakurai, Tomoyuki Shibata, Masakatsu Nakamura, Hikaru Takano, Tasuku Hayashi, Masafumi Ota, Tomoe Nomura-Horita, Ranji Hayashi, Takeo Shimasaki, Toshimi Ostuka, Tomomitsu Tahara and Tomiyasu Arisawa

    Citation: BMC Medical Genetics 2020 21:201

    Content type: Research article

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  40. Dedifferentiated liposarcoma (DDLPS), which accounts for an estimated 15–20% of liposarcomas, is a high-grade and aggressive malignant neoplasm, exhibiting a poor response to available therapeutic agents. Howe...

    Authors: Yoon-Seob Kim, Sun Shin, Seung-Hyun Jung and Yeun-Jun Chung

    Citation: BMC Medical Genetics 2020 21:200

    Content type: Case report

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  41. This case-control study aims to examine the association between the Interleukin-6 (IL-6) rs12700386 polymorphism and the increased risk of developing osteoarthritis (OA) in the knee in the Chinese Han population.

    Authors: Hui Yang, Xindie Zhou, Dongmei Xu and Gang Chen

    Citation: BMC Medical Genetics 2020 21:199

    Content type: Research article

    Published on:

  42. Juvenile polyposis syndrome (JPS) is a rare autosomal dominant hereditary disorder characterized by the development of multiple distinct juvenile polyps in the gastrointestinal tract with an increased risk of ...

    Authors: Qing Liu, Mengling Liu, Tianshu Liu and Yiyi Yu

    Citation: BMC Medical Genetics 2020 21:196

    Content type: Case report

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  43. Alagille syndrome is an autosomal dominant disorder usually caused by pathogenic variants of the JAG1 gene. In the past, cholestasis was a condition sine qua non for diagnosis of the syndrome. However, recent adv...

    Authors: Malgorzata Ponikowska, Agnieszka Pollak, Ewa Kotwica-Strzalek, Dorota Brodowska-Kania, Magdalena Mosakowska, Rafal Ploski and Stanislaw Niemczyk

    Citation: BMC Medical Genetics 2020 21:195

    Content type: Case report

    Published on:

  44. Schizophrenia is a severe, heritable, and refractory psychiatric disorder. Several studies have shown that the disrupted in schizophrenia 1 (DISC1) gene is closely associated with schizophrenia by its role in neu...

    Authors: Xiaoqian Fu, Guofu Zhang, Yansong Liu, Ling Zhang, Fuquan Zhang and Conghua Zhou

    Citation: BMC Medical Genetics 2020 21:194

    Content type: Research article

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  45. Joubert syndrome (OMIM 213300) is an autosomal recessive disorder with gene heterogeneity. Causal genes and their variants have been identified by sequencing or other technologies for Joubert syndrome subtypes.

    Authors: Yue Shen, Hao Wang, Zhimin Liu, Minna Luo, Siyu Ma, Chao Lu, Zongfu Cao, Yufei Yu, Ruikun Cai, Cuixia Chen, Qian Li, Huafang Gao, Yun Peng, Baoping Xu and Xu Ma

    Citation: BMC Medical Genetics 2020 21:192

    Content type: Case report

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  46. Central nervous system (CNS) hemangioblastomas are the most frequent cause of mortality in patients with Von Hippel–Lindau (VHL) disease, an autosomal dominant genetic disease resulting from germline mutations...

    Authors: Zhen Liu, Jingcheng Zhou, Liang Li, Zhiqiang Yi, Runchun Lu, Chunwei Li and Kan Gong

    Citation: BMC Medical Genetics 2020 21:191

    Content type: Case report

    Published on:

2019 Journal Metrics

Announcement

As a result of the significant disruption that is being caused by the COVID-19 pandemic we are very aware that many researchers will have difficulty in meeting the timelines associated with our peer review process during normal times.  Please do let us know if you need additional time. Our systems will continue to remind you of the original timelines but we intend to be highly flexible at this time.