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  1. Intellectual disability (ID) constitutes the most common group of neurodevelopmental disorders. Exome sequencing has enabled the discovery of genetic mutations responsible for a wide range of ID disorders.

    Authors: Yanyan Qian, Bingbing Wu, Yulan Lu, Wenhao Zhou, Sujuan Wang and Huijun Wang

    Citation: BMC Medical Genetics 2020 21:31

    Content type: Case report

    Published on:

  2. PCOS is a common disorder of women due to genetic, endocrine and environmental effects that manifests from puberty. The rs9939609 variant of fat mass and obesity associated (FTO) gene is linked to metabolic de...

    Authors: Umayal Branavan, Sulochana Wijesundera, Vishvanath Chandrasekaran, Carukshi Arambepola and Chandrika Wijeyaratne

    Citation: BMC Medical Genetics 2020 21:30

    Content type: Research article

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  3. The goal of this study was to review relevant case-control studies to determine the association of tumor necrosis factor-α (TNF-α) gene polymorphisms and coronary artery disease (CAD) susceptibility.

    Authors: Rui Huang, Su-Rui Zhao, Ya Li, Fang Liu, Yue Gong, Jun Xing and Ze-Sheng Xu

    Citation: BMC Medical Genetics 2020 21:29

    Content type: Research article

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  5. Stickler syndrome is the most common genetic cause of rhegmatogenous retinal detachment (RRD) in children, and has a high risk of blindness. Type I (STL1) is the most common subtype, caused by COL2A1 mutations. T...

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

    Citation: BMC Medical Genetics 2020 21:27

    Content type: Review

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  6. While Miller-Dieker syndrome critical region deletions are well known delineated anomalies, submicroscopic duplications in this region have recently emerged as a new distinctive syndrome. So far, only few case...

    Authors: Meriam Hadj Amor, Sarra Dimassi, Amel Taj, Wafa Slimani, Hanene Hannachi, Adnene Mlika, Khaled Ben Helel, Ali Saad and Soumaya Mougou-Zerelli

    Citation: BMC Medical Genetics 2020 21:26

    Content type: Research article

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  7. The aim of this study was to explore the association between diabetic retinopathy (DR) and the variants of uncoupling proteins (UCPs) genes in a Chinese population of type 2 diabetes, in total and in patients ...

    Authors: 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 and Haidong Zou

    Citation: BMC Medical Genetics 2020 21:25

    Content type: Research article

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  9. The prevalence of Parkinson’s disease (PD) is increasing in sub-Saharan Africa, but little is known about the genetics of PD in these populations. Due to their unique ancestry and diversity, sub-Saharan Africa...

    Authors: 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…

    Citation: BMC Medical Genetics 2020 21:23

    Content type: Research article

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  10. Methylmalonic acidemia (MMA), which is an autosomal recessive metabolic disorder, is caused by mutations in methylmalonyl-CoA mutase (MUT) gene. As a result, the conversion of methylmalonyl-CoA to succinyl-CoA is...

    Authors: Parham Habibzadeh, Zahra Tabatabaei, Mohammad Ali Farazi Fard, Laila Jamali, Aazam Hafizi, Pooneh Nikuei, Leila Salarian, Mohammad Hossein Nasr Esfahani, Zahra Anvar and Mohammad Ali Faghihi

    Citation: BMC Medical Genetics 2020 21:22

    Content type: Case report

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  11. More than 95% of individuals with RTT have mutations in methyl-CpG-binding protein 2 (MECP2), whose protein product modulates gene transcription. The disorder is caused by mutations in a single gene and the di...

    Authors: Carla Caffarelli, Stefano Gonnelli, Maria Dea Tomai Pitinca, Silvia Camarri, Antonella Al Refaie, Joussef Hayek and Ranuccio Nuti

    Citation: BMC Medical Genetics 2020 21:21

    Content type: Research article

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  12. X-linked ichthyosis (XLI; OMIM# 308100) is a recessive keratinization disorder characterized by the presence of dark brown, polygonal, adherent scales on different parts of the body surface. It almost exclusiv...

    Authors: Sibtain Afzal, Khushnooda Ramzan, Sajjad Ullah, Salma M. Wakil, Arshad Jamal, Sulman Basit and Ahmed Bilal Waqar

    Citation: BMC Medical Genetics 2020 21:20

    Content type: Research article

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  13. Dilated cardiomyopathy (DCM) is a condition characterized by dilatation and systolic dysfunction of the left ventricle in the absence of severe coronary artery disease or abnormal loading conditions. Mutations...

    Authors: Krista Heliö, Tiia Kangas-Kontio, Sini Weckström, Sari U. M. Vanninen, Katriina Aalto-Setälä, Tero-Pekka Alastalo, Samuel Myllykangas, Tiina M. Heliö and Juha W. Koskenvuo

    Citation: BMC Medical Genetics 2020 21:19

    Content type: Research article

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  14. Joubert syndrome is a genetically heterogeneous autosomal recessive ciliopathy characterized by the combination of hypoplasia/aplasia of the cerebellar vermis, thickened and elongated superior cerebellar pedun...

    Authors: Thi Phuong Hoa Bui, Ngoc Tu Nguyen, Van Doan Ngo, Hoai-Nghia Nguyen, Thi Thanh Ha Ly, Huy Duong Do and Minh-Tuan Huynh

    Citation: BMC Medical Genetics 2020 21:18

    Content type: Case report

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  15. Several reports were published on the relationship between the vascular endothelial growth factor (VEGF) -2578C > A gene polymorphism and lung cancer risk; however, the results are debatable. This meta-analysi...

    Authors: Hui-liu Zhao, Jia-hua Yu, Ling-sha Huang, Pei-zhang Li, Ming Lao, Bo Zhu and Chao Ou

    Citation: BMC Medical Genetics 2020 21:17

    Content type: Research article

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  16. Autosomal recessive bestrophinopathy (ARB) is a retinal degenerative disorder caused by BEST1 mutations with autosomal recessive inheritance. We aim to map a comprehensive genomic and metabolomic profile of a con...

    Authors: Panpan Ye, Jia Xu, Yueqiu Luo, Zhitao Su and Ke Yao

    Citation: BMC Medical Genetics 2020 21:16

    Content type: Research article

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  17. Proteus syndrome (PS) is an extremely rare disease characterized by excessive chimeric growth of cells, and progressive and irregular asymmetrical hyperplasia.

    Authors: Xiaoyun Zeng, Xiaoming Wen, Xinxin Liang, Lina Wang and Lingling Xu

    Citation: BMC Medical Genetics 2020 21:15

    Content type: Case report

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  18. The DENND1A gene is one of the most important sites associated with polycystic ovary syndrome (PCOS). We attempted to analyze the correlation between five single nucleotide polymorphisms (SNPs) in the DENND1A gen...

    Authors: Ya-nan Zhu, Yi-ting Zhang, Qin Liu, Shan-mei Shen, Xiang Zou, Yun-xia Cao, Wen-jun Wang, Long Yi, Qian Gao, Wei-dong Yang and Yong Wang

    Citation: BMC Medical Genetics 2020 21:14

    Content type: Research article

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  19. Mutations of the WFS1 gene are responsible for most cases of Wolfram syndrome (WS), a rare, recessively inherited neurodegenerative disorder characterized by juvenile-onset non-autoimmune diabetes mellitus and op...

    Authors: Maryam Sobhani, Mohammad Amin Tabatabaiefar, Soudeh Ghafouri-Fard, Asadollah Rajab, Asal Hojjat, Abdol-Mohammad Kajbafzadeh and Mohammad Reza Noori-Daloii

    Citation: BMC Medical Genetics 2020 21:13

    Content type: Case report

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    The Correction to this article has been published in BMC Medical Genetics 2020 21:58

  20. Gaucher disease (GD) is a lysosomal disorder caused by biallelic pathogenic mutations in the GBA1 gene that encodes beta-glucosidase (GCase), and more rarely, by a deficiency in the GCase activator, saposin C. Cl...

    Authors: Suelen Porto Basgalupp, Marina Siebert, Charles Ferreira, Sidney Behringer, Ute Spiekerkoetter, Luciana Hannibal and Ida Vanessa Doederlein Schwartz

    Citation: BMC Medical Genetics 2020 21:12

    Content type: Research article

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  22. The role of deleterious copy number variations in schizophrenia is well established while data regarding pathogenic variations remain scarce. We report for the first time a case of schizophrenia in a child wit...

    Authors: Alice Poisson, Nicolas Chatron, Audrey Labalme, Pierre Fourneret, Dorothée Ville, Marie Laure Mathieu, Damien Sanlaville, Caroline Demily and Gaëtan Lesca

    Citation: BMC Medical Genetics 2020 21:10

    Content type: Case report

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  23. Coagulation factor XIII (FXIII) plays an essential role in maintaining hemostasis by crosslinking fibrin. Deficiency in FXIII affects clot stability and increases the risk of severe bleeding. Congenital FXIII ...

    Authors: Jun Deng, Dan Li, Heng Mei, Liang Tang, Hua-fang Wang and Yu Hu

    Citation: BMC Medical Genetics 2020 21:9

    Content type: Research article

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  24. Psoriasis is a multifactorial disorder, impacted by both genetic and environmental factors. Herein, a meta-analysis assessed the association of angiotensin-converting enzyme gene insertion/deletion (ACE I/D) poly...

    Authors: Mazaher Ramezani, Elisa Zavattaro and Masoud Sadeghi

    Citation: BMC Medical Genetics 2020 21:8

    Content type: Research article

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  25. Osteocraniostenosis (OCS) is a rare genetic disorder characterised by premature closure of cranial sutures, gracile bones and perinatal lethality. Previously, diagnosis has only been possible postnatally on cl...

    Authors: Lara Pemberton, Robert Barker, Anna Cockell, Vijaya Ramachandran, Andrea Haworth and Tessa Homfray

    Citation: BMC Medical Genetics 2020 21:7

    Content type: Case report

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  27. Hypertension is one of the risk factors for obesity-related cardiovascular diseases. We investigated whether genetic variations in serotonin 2A receptor (HTR2A) were associated with hypertension.

    Authors: Jung Ran Choi, Minhee Jeon and Sang Baek Koh

    Citation: BMC Medical Genetics 2020 21:5

    Content type: Research article

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  28. Chediak-Higashi Syndrome (CHS) is a rare autosomal recessive disease caused by loss of function of the lysosomal trafficking regulator protein. The causative gene LYST/CHS1 was cloned and identified in 1996, whic...

    Authors: Yinsen Song, Zhengping Dong, Shuying Luo, Junmei Yang, Yuebing Lu, Bo Gao and Tianli Fan

    Citation: BMC Medical Genetics 2020 21:4

    Content type: Case report

    Published on:

  29. Liquid biopsies of blood plasma cell free DNA can be used to monitor treatment response and potentially detect mutations that are present in resistant clones in metastatic cancer patients.

    Authors: Alexander Hendricks, Philip Rosenstiel, Sebastian Hinz, Greta Burmeister, Christoph Röcken, Kathrin Boersch, Clemens Schafmayer, Thomas Becker, Andre Franke and Michael Forster

    Citation: BMC Medical Genetics 2020 21:3

    Content type: Case report

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  31. Hearing loss (HL) represents the most common congenital sensory impairment with an incidence of 1–5 per 1000 live births. Non-syndromic hearing loss (NSHL) is an isolated finding that is not part of any other ...

    Authors: Athar Khalil, Samer Bou Karroum, Rana Barake, Gabriel Dunya, Samer Abou-Rizk, Amina Kamar, Georges Nemer and Marc Bassim

    Citation: BMC Medical Genetics 2020 21:1

    Content type: Research article

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  32. Spinal muscular atrophy (SMA) is a rare neuromuscular disorder threating hundreds of thousands of lives worldwide. And the severity of SMA differs among different clinical types, which has been demonstrated to...

    Authors: Jianping Jiang, Jinwei Huang, Jianlei Gu, Xiaoshu Cai, Hongyu Zhao and Hui Lu

    Citation: BMC Medical Genetics 2019 20:204

    Content type: Case report

    Published on:

  33. Synpolydactyly type 1 (SPD1), also known as syndactyly type II, is an autosomal dominant limb deformity generally results in webbing of 3rd and 4th fingers, duplication of 4th or 5th toes. It is most commonly ...

    Authors: Tahir Zaib, Wei Ji, Komal Saleem, Guangchen Nie, Chao Li, Lin Cao, Baijun Xu, Kexian Dong, Hanfei Yu, Xuguang Hao, Yan Xue, Shuhan Si, Xueyuan Jia, Jie Wu, Xuelong Zhang, Rongwei Guan…

    Citation: BMC Medical Genetics 2019 20:203

    Content type: Research article

    Published on:

  34. The morbidity and mortality of endometrial tumors, a common type of malignant cancer in women, have increased in recent years. POLE encodes the DNA polymerase ε, which is responsible for the leading strand DNA...

    Authors: Yiran Li, Yiding Bian, Kai Wang and Xiao-Ping Wan

    Citation: BMC Medical Genetics 2019 20:202

    Content type: Research article

    Published on:

  35. Vitamin D derivatives and their receptor (VDR) are potent modulators of immune responses in various diseases including malignancies as well as in metabolic and infectious disorders. The impact of vitamin D rec...

    Authors: Nghiem Xuan Hoan, Nguyen Khuyen, Dao Phuong Giang, Mai Thanh Binh, Nguyen Linh Toan, Do Tuan Anh, Ngo Tat Trung, Mai Hong Bang, Christian G. Meyer, Thirumalaisamy P. Velavan and Le Huu Song

    Citation: BMC Medical Genetics 2019 20:201

    Content type: Research article

    Published on:

  36. Schmid-type metaphyseal chondrodysplasia (MCDS) is an autosomal dominant disorder caused by COL10A1 mutations, which is characterized by short stature, waddling gait, coxa vara and bowing of the long bones. Howev...

    Authors: Lingchi Kong, Li Shi, Wenbo Wang, Rongtai Zuo, Mengwei Wang and Qinglin Kang

    Citation: BMC Medical Genetics 2019 20:200

    Content type: Research article

    Published on:

  37. Neurological disorders are a common cause of morbidity and mortality within Pakistani populations. It is one of the most important challenges in healthcare, with significant life-long socio-economic burden.

    Authors: Shazia Khan, Lettie E. Rawlins, Gaurav V. Harlalka, Muhammad Umair, Asmat Ullah, Shaheen Shahzad, Muhammad Javed, Emma L. Baple, Andrew H. Crosby, Wasim Ahmad and Asma Gul

    Citation: BMC Medical Genetics 2019 20:199

    Content type: Research article

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  38. Perrault syndrome is a genetically heterogenous, very rare disease, characterized clinically by sensorineural hearing loss, ovarian dysfunction and neurological symptoms. We present the case of a 33 years old ...

    Authors: Bálint Fekete, Klára Pentelényi, Gabor Rudas, Anikó Gál, Zoltán Grosz, Anett Illés, Jimoh Idris, Gabor Csukly, Andor Domonkos and Maria Judit Molnar

    Citation: BMC Medical Genetics 2019 20:198

    Content type: Case report

    Published on:

  39. We explored the association of leucine-rich repeats and calponin homology domain containing 1 (LRCH1) gene polymorphisms with genetic susceptibility to delayed encephalopathy after acute carbon monoxide poison...

    Authors: Jiapeng Gu, Jiao Zeng, Xi Wang, Xin Gu, Xiaoli Zhang, Ping Zhang, Fan Zhang, Yongkai Han, Yazhou Han, Hongxing Zhang, Wenqiang Li and Renjun Gu

    Citation: BMC Medical Genetics 2019 20:197

    Content type: Research article

    Published on:

  40. 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

    Content type: Research article

    Published on:

  41. 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

    Content type: Correction

    Published on:

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

  43. 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

    Content type: Research article

    Published on:

  44. 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

    Content type: Research

    Published on:

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

  45. 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

    Content type: Research article

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  46. 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

    Content type: Research article

    Published on:

  47. 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

    Content type: Research article

    Published on:

  48. 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

    Content type: Case report

    Published on:

  49. 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

    Content type: Case report

    Published on:

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