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  1. Amelogenesis imperfecta (AI) is a highly heterogeneous group of hereditary developmental abnormalities which mainly affects the dental enamel during tooth development in terms of its thickness, structure, and ...

    Authors: Sher Alam Khan, Muhammad Adnan Khan, Nazif Muhammad, Hina Bashir, Niamat Khan, Noor Muhammad, Rüstem Yilmaz, Saadullah Khan and Naveed Wasif

    Citation: BMC Medical Genetics 2020 21:97

    Content type: Research article

    Published on:

  2. Joubert syndrome (JBTS) is a genetically heterogeneous group of neurodevelopmental syndromes caused by primary cilia dysfunction. Usually the neurological presentation starts with abnormal neonatal breathing f...

    Authors: Dulika Sumathipala, Petter Strømme, Christian Gilissen, Ingunn Holm Einarsen, Hilde J. Bjørndalen, Andrés Server, Jordi Corominas, Bjørnar Hassel, Madeleine Fannemel, Doriana Misceo and Eirik Frengen

    Citation: BMC Medical Genetics 2020 21:96

    Content type: Case report

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  4. Niemann-Pick disease (NPD) is a rare autosomal recessive hereditary disease characterized by deficient activity of acid sphingomyelinase.

    Authors: L. Ordieres-Ortega, F. Galeano-Valle, M. Mallén-Pérez, C. Muñoz-Delgado, J. E. Apaza-Chavez, F. J. Menárguez-Palanca, L. A. Alvarez-Sala Walther and P. Demelo-Rodríguez

    Citation: BMC Medical Genetics 2020 21:94

    Content type: Case report

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  5. Pathogenic SLC6A1 variants have been reported in patients with myoclonic-atonic epilepsy (MAE). NOTCH1, encoding a member of the Notch family of proteins, is known to be associated with aortic valve disease. The

    Authors: Haiming Yuan, Qingming Wang, Yufeng Li, Shuangxi Cheng, Jianxin Liu and Yanhui Liu

    Citation: BMC Medical Genetics 2020 21:93

    Content type: Case report

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  6. Pediatric high-grade gliomas (pHGGs) are incurable malignant brain cancers. Clear somatic genetic drivers are difficult to identify in the majority of cases. We hypothesized that this may be due to the existen...

    Authors: Anna Bobyn, Mehdi Zarrei, Yuankun Zhu, Mary Hoffman, Darren Brenner, Adam C. Resnick, Stephen W. Scherer and Marco Gallo

    Citation: BMC Medical Genetics 2020 21:92

    Content type: Research article

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  7. Renal hypouricemia (RHUC) is a hereditary disorder where mutations in SLC22A12 gene and SLC2A9 gene cause RHUC type 1 (RHUC1) and RHUC type 2 (RHUC2), respectively. These genes regulate renal tubular reabsorption...

    Authors: Motohiro Sekiya, Takaaki Matsuda, Yuki Yamamoto, Yasuhisa Furuta, Mariko Ohyama, Yuki Murayama, Yoko Sugano, Yoshinori Ohsaki, Hitoshi Iwasaki, Naoya Yahagi, Shigeru Yatoh, Hiroaki Suzuki and Hitoshi Shimano

    Citation: BMC Medical Genetics 2020 21:91

    Content type: Case report

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  8. ERF-related craniosynostosis are a rare, complex, premature trisutural fusion associated with a broad spectrum of clinical features and heterogeneous aetiology. Here we describe two cases with the same pathoge...

    Authors: Izabella Körberg, Daniel Nowinski, Marie-Louise Bondeson, Malin Melin, Lars Kölby and Eva-Lena Stattin

    Citation: BMC Medical Genetics 2020 21:90

    Content type: Case report

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  9. The aim was to establish the true risk of having an affected child with Cystic Fibrosis (CF) in the Sicilian infertile population.

    Authors: Sandrine Chamayou, Maria Sicali, Debora Lombardo, Elena Maglia, Annalisa Liprino, Clementina Cardea, Michele Fichera, Ermanno Venti and Antonino Guglielmino

    Citation: BMC Medical Genetics 2020 21:89

    Content type: Research article

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  10. Interleukin (IL) 28B polymorphisms encoding pro-inflammatory and anti-inflammatory cytokines trigger diverse clinical outcome of hepatitis virus infection. However, there is controversy concerning the association...

    Authors: Jingyu Zhao, Xinyue Zhang, Liwei Fang, Hong Pan and Jun Shi

    Citation: BMC Medical Genetics 2020 21:88

    Content type: Research article

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  11. Developmental dyslexia (DD) is a neurodevelopmental learning disorder with high heritability. A number of candidate susceptibility genes have been identified, some of which are linked to the function of the ci...

    Authors: Andrea Bieder, Elisabet Einarsdottir, Hans Matsson, Harriet E. Nilsson, Jesper Eisfeldt, Anca Dragomir, Martin Paucar, Tobias Granberg, Tie-Qiang Li, Anna Lindstrand, Juha Kere and Isabel Tapia-Páez

    Citation: BMC Medical Genetics 2020 21:87

    Content type: Case report

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  12. Vascular endothelial growth factor (VEGF) gene is highly polymorphic, and single nucleotide polymorphisms (SNP) of VEGF gene are associate with cancer prognosis. This study aimed to analyze the correlation of ...

    Authors: Changjiang Liu, Xuetao Zhou, Zefeng Zhang and Yang Guo

    Citation: BMC Medical Genetics 2020 21:86

    Content type: Research article

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  13. Previous studies found that Ser9Gly (rs6280) might be involved in the occurrence of schizophrenia. However, no consist conclusion has yet been achieved. Compared to the case-control study, the family-based stu...

    Authors: Xiao-na Li, Ji-long Zheng, Xiao-han Wei, Bao-jie Wang and Jun Yao

    Citation: BMC Medical Genetics 2020 21:85

    Content type: Research article

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  14. Nephronophthisis (NPHP) is a rare autosomal recessive inherited disorder with high heterogeneity. The majority of NPHP patients progress to end-stage renal disease (ESRD) within the first three decades of life...

    Authors: Feng Chen, Limeng Dai, Jun Zhang, Furong Li, Jinbo Cheng, Jinghong Zhao and Bo Zhang

    Citation: BMC Medical Genetics 2020 21:84

    Content type: Case report

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  15. The role of angiotensin II type 1 receptor (AT1R) as a key player in type 2 diabetes mellitus (T2DM) complicated with hypertension remains controversial. The present case-control study systematically investigated...

    Authors: Lina Hou, Xiaohong Quan, Xian Li and Xiulan Su

    Citation: BMC Medical Genetics 2020 21:83

    Content type: Research article

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  16. Investigations in genetics have provided valuable information about the correlation between gene variants and tendinopathy. Single Nucleotide Polymorphisms of COL5A1 gene are reported to be involved in Achille...

    Authors: Stefano Petrillo, Umile Giuseppe Longo, Katia Margiotti, Vincenzo Candela, Caterina Fusilli, Giacomo Rizzello, Alessandro De Luca and Vincenzo Denaro

    Citation: BMC Medical Genetics 2020 21:82

    Content type: Research article

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  17. Prostate cancer is one of the five common cancers and has the second incidence rate and the third mortality rate in Iranian population. The purpose of this study was to evaluate the association of rs16901979, ...

    Authors: Behnaz Beikzadeh, Seyed Abdolhamid Angaji and Maryam Abolhasani

    Citation: BMC Medical Genetics 2020 21:81

    Content type: Research article

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  18. Pierson syndrome (PS) is a rare autosomal recessive disorder, characterized by congenital nephrotic syndrome and microcoria. Advances in renal replacement therapies have extended the lifespan of patients, wher...

    Authors: Kei Nishiyama, Mari Kurokawa, Michiko Torio, Yasunari Sakai, Mitsuru Arima, Shoko Tsukamoto, Satoshi Obata, Shogo Minamikawa, Kandai Nozu, Noriyuki Kaku, Yoshihiko Maehara, Koh-Hei Sonoda, Tomoaki Taguchi and Shouichi Ohga

    Citation: BMC Medical Genetics 2020 21:80

    Content type: Case report

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  19. Congenital chloride diarrhea (CLD; OMIM 214700) is a rare autosomal recessive disorder caused by pathogenic variations in the solute carrier family 26 member A3 (SLC26A3) gene. Without salt substitution, this chr...

    Authors: Eva Lindberg, Claes Moller, Juha Kere, Satu Wedenoja and Agneta Anderzén-Carlsson

    Citation: BMC Medical Genetics 2020 21:79

    Content type: Case report

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  20. The protein Kruppel-like factor 13 (KLF13) is a member of the KLF family and has been identified as a cardiac transcription factor that is involved in heart development. However, the relationship between KLF13...

    Authors: Wenjuan Li, Baolei Li, Tingting Li, Ergeng Zhang, Qingjie Wang, Sun Chen and Kun Sun

    Citation: BMC Medical Genetics 2020 21:78

    Content type: Research article

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  21. Myopathy with extrapyramidal signs (MPXPS) is an autosomal recessive mitochondrial disorder which is caused by mutation in mitochondrial calcium uptake 1 (MICU1) gene located on chromosome 10q22.1. Next Generatio...

    Authors: Marzieh Mojbafan, Somayeh Takrim Nojehdeh, Faezeh Rahiminejad, Yalda Nilipour, Seyed Hasan Tonekaboni and Sirous Zeinali

    Citation: BMC Medical Genetics 2020 21:77

    Content type: Case report

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  22. Despite recent findings that epithelial cell adhesion molecule (EPCAM) deletions can cause Lynch syndrome (LS), its clinical characteristics are still unknown. We present the first case of ileum cancer in a patie...

    Authors: Narushi Iwata, Ayumi Shikama, Wataru Takao, Yoshihiko Hosokawa, Hiroya Itagaki, Nobutaka Tasaka, Azusa Akiyama, Hiroyuki Ochi, Takeo Minaguchi, Miwa Arita, Emiko Noguchi, Toshikazu Moriwaki and Toyomi Satoh

    Citation: BMC Medical Genetics 2020 21:76

    Content type: Case report

    Published on:

  23. β Thalassemia is one of the most common groups of hereditary haemoglobinopathies. Affected people with thalassemia major are dependent on regular blood transfusion which on the long term leads to iron overload...

    Authors: Parinaz Zarghamian, Azita Azarkeivan, Ali Arabkhazaeli, Ahmad Mardani and Majid Shahabi

    Citation: BMC Medical Genetics 2020 21:75

    Content type: Research article

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  24. PYGL mutations can cause liver phosphorylase deficiency, resulting in a glycogenolysis disorder, namely, glycogen storage disease (GSD) VI. The disease is rarely reported in the Chinese population. GSD VI is main...

    Authors: Xiaomei Luo, Jiacheng Hu, Xueren Gao, Yanjie Fan, Yu Sun, Xuefan Gu and Wenjuan Qiu

    Citation: BMC Medical Genetics 2020 21:74

    Content type: Case report

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  25. Inherited deficiency of the antithrombin (hereditary antithrombin deficiency, AT deficiency, OMIM #613118) is a relatively rare (1:2000–3000) autosomal-dominant disorder with high risk of venous thromboembolis...

    Authors: Margarita E. Polyak and Elena V. Zaklyazminskaya

    Citation: BMC Medical Genetics 2020 21:73

    Content type: Case report

    Published on:

  26. Propionic acidemia (PA) is an autosomal recessive metabolic disorder caused by the deficiency of the mitochondrial protein propionyl-CoA carboxylase (PCC) and is associated with pathogenic variants in either o...

    Authors: Qi Yang, Hong Xu, Jingsi Luo, Mengting Li, Sheng Yi, Qinle Zhang, Guoxing Geng, Shihan Feng and Xin Fan

    Citation: BMC Medical Genetics 2020 21:72

    Content type: Case report

    Published on:

  29. The Houge type of X-linked syndromic mental retardation is an X-linked intellectual disability (XLID) recently recorded in the Online Mendelian Inheritance in Man (OMIM) and only 8 cases have been reported in ...

    Authors: Mei Daoqi, Chen Guohong, Wang Yuan, Yang Zhixiao, Xu Kaili and Mei Shiyue

    Citation: BMC Medical Genetics 2020 21:69

    Content type: Case report

    Published on:

  30. The TWNK gene encodes the twinkle protein, which is a mitochondrial helicase for DNA replication. The dominant TWNK variants cause progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal ...

    Authors: Kodai Kume, Hiroyuki Morino, Ryosuke Miyamoto, Yukiko Matsuda, Ryosuke Ohsawa, Yuhei Kanaya, Yui Tada, Takashi Kurashige and Hideshi Kawakami

    Citation: BMC Medical Genetics 2020 21:68

    Content type: Case report

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  31. Xeroderma pigmentosum (XP) is a rare autosomal recessive genodermatosis. There are eight complementation groups of XP (XP-A to G and a variant form). XP-E is one of the least common forms, and XP-E patients ar...

    Authors: Rui Yang, Qingtao Kong, Yuanyuan Duan, Weiwei Li and Hong Sang

    Citation: BMC Medical Genetics 2020 21:67

    Content type: Case report

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  32. Ischemic Stroke (IS) is the most common neurological emergency disease and has become the second most frequent cause of death after coronary artery disease in 2015. Owing to its high fatality rate and narrow t...

    Authors: Qizhi Xie, Xiaoyun Zhang, Sijia Peng, Jingjing Sun, Xiao Chen, Yuanfei Deng and Li Yi

    Citation: BMC Medical Genetics 2020 21:66

    Content type: Research article

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  33. Several obesity susceptibility loci in genes, including GNPDA2, SH2B1, TMEM18, MTCH2, CDKAL1, FAIM2, and MC4R, have been identified by genome-wide association studies. The purpose of this study was to investigate...

    Authors: Jing Kang, Ren-Chu Guan, Ying Zhao and Yan Chen

    Citation: BMC Medical Genetics 2020 21:65

    Content type: Research article

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  34. The calcium-selective channel TRPV6 (transient receptor potential cation channel subfamily V member 6) is crucial for maternal-fetal calcium transport across the placenta. TRPV6 mutations have recently been assoc...

    Authors: Anna E. Mason, David Grier, Sarah F. Smithson, Christine P. Burren and Elise Gradhand

    Citation: BMC Medical Genetics 2020 21:64

    Content type: Case report

    Published on:

  35. Brucellosis is a quite normal zoonotic infection, which is caused by immediate contact with animals infected with Brucella or its products. IL-10 (− 1082 G/A, − 819 C/T, − 592C/A) and IL-6 -174 G/C polymorphis...

    Authors: Xiaochun Jin, Yueyuan Wu, Shuzhou Yin, Xu Chen and Youtao Zhang

    Citation: BMC Medical Genetics 2020 21:63

    Content type: Research article

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  36. To examine the association between lipoprotein(a) (Lp(a)) levels, LPA (rs10455872 and rs3798220) and IL1F9 (rs13415097) single nucleotide polymorphisms (SNPs) with coronary artery calcification (CAC), an importan...

    Authors: Sonali Pechlivanis, Amir A. Mahabadi, Per Hoffmann, Markus M. Nöthen, Martina Broecker-Preuss, Raimund Erbel, Susanne Moebus, Andreas Stang and Karl-Heinz Jöckel

    Citation: BMC Medical Genetics 2020 21:62

    Content type: Research article

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  37. Wolcott-Rallison Syndrome (WRS) is a rare autosomal recessive disease that is the most common cause of neonatal diabetes in consanguineous families. WRS is caused by various genetic alterations of the Eukaryot...

    Authors: Andrea Sümegi, Zoltán Hendrik, Tamás Gáll, Enikő Felszeghy, Katalin Szakszon, Péter Antal-Szalmás, Lívia Beke, Ágnes Papp, Gábor Méhes, József Balla and György Balla

    Citation: BMC Medical Genetics 2020 21:61

    Content type: Research article

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  38. Brachydactyly type A1(BDA-1) is an autosomal dominant disorder which is caused by heterozygous pathogenic variants in a specific region of the N-terminal active fragment of Indian Hedgehog (IHH). The disorder is ...

    Authors: Qi Yang, Jin Wang, Xiaoxian Tian, Fei Shen, Jing Lan, Qiang Zhang, Xin Fan, Shang Yi, Mengting Li and Yiping Shen

    Citation: BMC Medical Genetics 2020 21:60

    Content type: Research article

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  39. Intellectual disability (ID) is both a clinically diverse and genetically heterogeneous group of disorder, with an onset of cognitive impairment before the age of 18 years. ID is characterized by significant l...

    Authors: Muhammad Ilyas, Stephanie Efthymiou, Vincenzo Salpietro, Nuzhat Noureen, Faisal Zafar, Sobiah Rauf, Asif Mir and Henry Houlden

    Citation: BMC Medical Genetics 2020 21:59

    Content type: Research article

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  40. Following publication of the original article [1], the authors flagged that the name of ‘Asal Hojjat’ was misspelled; the name had been spelled as ‘Asal Hojat’.

    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 21:58

    Content type: Correction

    Published on:

    The original article was published in BMC Medical Genetics 2020 21:13

  43. Glutathione S-transferases play a key role in the detoxification of persistent oxidative stress products which are one of several risks factors that may be associated with many types of disease processes such ...

    Authors: Herman Karim Sombié, Abel Pegdwendé Sorgho, Jonas Koudougou Kologo, Abdoul Karim Ouattara, Sakinata Yaméogo, Albert Théophane Yonli, Florencia Wendkuuni Djigma, Daméhan Tchelougou, Dogfounianalo Somda, Isabelle Touwendpoulimdé Kiendrébéogo, Prosper Bado, Bolni Marius Nagalo, Youssoufou Nagabila, Enagnon Tiémoko Herman Donald Adoko, Patrice Zabsonré, Hassanata Millogo…

    Citation: BMC Medical Genetics 2020 21:55

    Content type: Research article

    Published on:

  44. The ABCG2 rs2231142 single nucleotide polymorphism (SNP) is one of the most significant genetic variants associated with hyperuricemia (HUA) in Asian populations. However, the risk of ABCG2 rs2231142 variants for...

    Authors: Jia Liu, Wei Yang, Yun Li, Zhanyun Wei and Xiaojuan Dan

    Citation: BMC Medical Genetics 2020 21:54

    Content type: Research article

    Published on:

  45. Adolescence is a distinctive stage of various changes and is noted as peak age for onset of many psychiatric disorders, especially linked to stress and depression. Several genetic variations are being increasi...

    Authors: Madhumita Ghosh, Akhtar Ali, Shobhna Joshi, Adya Shankar Srivastava and Madhu G. Tapadia

    Citation: BMC Medical Genetics 2020 21:53

    Content type: Research article

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  46. Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant genodermatosis characterized by benign growth of the hair follicles, the presence of pulmonary cysts, spontaneous pneumothorax, and bilateral renal t...

    Authors: Flávia Balsamo, Pedro Augusto Soffner Cardoso, Sergio Aparecido do Amaral Junior, Therésè Rachell Theodoro, Flavia de Sousa Gehrke, Maria Aparecida da Silva Pinhal, Bianca Bianco and Jaques Waisberg

    Citation: BMC Medical Genetics 2020 21:52

    Content type: Case report

    Published on:

  47. The AP4B1 gene encodes a subunit of adaptor protein complex-4 (AP4), a component of intracellular transportation of proteins which plays important roles in neurons. Bi-allelic mutations in AP4B1 cause autosomal r...

    Authors: Wen-Cong Ruan, Jia Wang, Yong-Lin Yu, Yue-Ping Che, Li Ding, Chen-Xi Li, Xiao-Dong Wang and Hai-Feng Li

    Citation: BMC Medical Genetics 2020 21:51

    Content type: Case report

    Published on:

  48. Noonan syndrome (NS), an autosomal dominant developmental genetic disorder, is caused by germline mutations in genes associated with the RAS / mitogen-activated protein kinase (MAPK) pathway. In several studies P...

    Authors: Jeevana Praharsha Athota, Meenakshi Bhat, Sheela Nampoothiri, Kalpana Gowrishankar, Sanjeeva Ghanti Narayanachar, Vinuth Puttamallesh, Mohammed Oomer Farooque and Swathi Shetty

    Citation: BMC Medical Genetics 2020 21:50

    Content type: Research article

    Published on:

  49. This study wants to know the genetic cause of preeclampsia (PE) which is a leading cause of maternal and perinatal death, but the underlying molecular mechanisms that cause PE remain poorly understood. Many si...

    Authors: Lin Zhang, Zheng Cao, Fan Feng, Ya-Nan Xu, Lin Li and Hong Gao

    Citation: BMC Medical Genetics 2020 21:49

    Content type: Research article

    Published on:

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