Articles

Sort by
Previous Page Page 1 of 64 Next Page
  1. Research article

    Functional study of DAND5 variant in patients with Congenital Heart Disease and laterality defects

    Perturbations on the Left-Right axis establishment lead to laterality defects, with frequently associated Congenital Heart Diseases (CHDs). Indeed, in the last decade, it has been reported that the etiology of...

    Fernando Cristo, José M. Inácio, Salomé de Almeida, Patrícia Mendes, Duarte Saraiva Martins, José Maio, Rui Anjos and José A. Belo

    BMC Medical Genetics 2017 18:77

    Published on: 24 July 2017

  2. Research article

    Association between 28 single nucleotide polymorphisms and type 2 diabetes mellitus in the Kazakh population: a case-control study

    We evaluated the associations between single nucleotide polymorphisms and different clinical parameters related to type 2 diabetes mellitus (T2DM), obesity risk, and metabolic syndrome (MS) in a Kazakh cohort.

    Nurgul Sikhayeva, Aisha Iskakova, Nuria Saigi-Morgui, Elena Zholdybaeva, Chin-Bin Eap and Erlan Ramanculov

    BMC Medical Genetics 2017 18:76

    Published on: 24 July 2017

  3. Case report

    Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with Alström syndrome

    Alström syndrome is a rare multi-systemic disorder with a broad spectrum of symptoms. This syndrome is characterized by childhood retinal degeneration; sensorineural hearing loss; obesity; type 2 diabetes mell...

    Lin Yang, Zixiu Li, Mei Mei, Xiaomei Fan, Guodong Zhan, Huijun Wang, Guoying Huang, Mingbang Wang, Weidong Tian and Wenhao Zhou

    BMC Medical Genetics 2017 18:75

    Published on: 19 July 2017

  4. Research article

    Sex is a moderator of the association between NOS1AP sequence variants and QTc in two long QT syndrome founder populations: a pedigree-based measured genotype association analysis

    Sequence variants in the NOS1AP gene have repeatedly been reported to influence QTc, albeit with moderate effect sizes. In the long QT syndrome (LQTS), this may contribute to the substantial QTc variance seen amo...

    Annika Winbo, Eva-Lena Stattin, Ida Maria Westin, Anna Norberg, Johan Persson, Steen M. Jensen and Annika Rydberg

    BMC Medical Genetics 2017 18:74

    Published on: 18 July 2017

  5. Case report

    Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene

    Type II or juvenile GM1-gangliosidosis is an autosomal recessive lysosomal storage disorder, which is clinically distinct from infantile form of the disease by the lack of characteristic cherry-red spot and he...

    Parvaneh Karimzadeh, Samaneh Naderi, Farzaneh Modarresi, Hassan Dastsooz, Hamid Nemati, Tayebeh Farokhashtiani, Bibi Shahin Shamsian, Soroor Inaloo and Mohammad Ali Faghihi

    BMC Medical Genetics 2017 18:73

    Published on: 17 July 2017

  6. Research article

    Signal transducer and activator of transcription 3 (STAT3) promoter methylation and expression in pituitary adenoma

    Pituitary adenoma (PA) is a benign brain tumor that can cause neurological, endocrinological and ophthalmological aberrations. Till now there is a need to identify factors that can influence the tumor invasive...

    Indre Valiulyte, Giedrius Steponaitis, Daina Skiriute, Arimantas Tamasauskas and Paulina Vaitkiene

    BMC Medical Genetics 2017 18:72

    Published on: 14 July 2017

  7. Software

    f-treeGC: a questionnaire-based family tree-creation software for genetic counseling and genome cohort studies

    The Tohoku Medical Megabank project aims to create a next-generation personalized healthcare system by conducting large-scale genome-cohort studies involving three generations of local residents in the areas a...

    Tomoharu Tokutomi, Akimune Fukushima, Kayono Yamamoto, Yasushi Bansho, Tsuyoshi Hachiya and Atsushi Shimizu

    BMC Medical Genetics 2017 18:71

    Published on: 14 July 2017

  8. Research article

    Using KASP technique to screen LRRK2 G2019S mutation in a large Tunisian cohort

    In North African populations, G2019S mutation in LRRK2 gene, encoding for the leucine-rich repeat kinase 2, is the most prevalent mutation linked to familial and sporadic Parkinson’s disease (PD). Early detection...

    Zied Landoulsi, Sawssan Benromdhan, Mouna Ben Djebara, Mariem Damak, Hamza Dallali, Rym Kefi, Sonia Abdelhak, Amina Gargouri-Berrechid, Chokri Mhiri and Riadh Gouider

    BMC Medical Genetics 2017 18:70

    Published on: 6 July 2017

  9. Research article

    Association study of candidate genes for susceptibility to Kashin-Beck disease in a Tibetan population

    Many osteoarthritis (OA) susceptibility genes have been identified in recent years. Given the overlap in the phenotype of joint inflammation between OA and Kashin-Beck disease (KBD), the aim of this study is t...

    Zhengfu Tai, Lulin Huang, Fang Lu, Yi Shi, Shi Ma, Jing Cheng, He Lin, Xin Liu, Yuanfeng Li and Zhenglin Yang

    BMC Medical Genetics 2017 18:69

    Published on: 26 June 2017

  10. Case report

    Identification of a novel CTCF mutation responsible for syndromic intellectual disability – a case report

    Autosomal dominant mental retardation 21 (MRD21) is a very rare condition, characterized by short stature, microcephaly, mild facial dysmorphisms and intellectual disability that ranged from mild to severe. MR...

    Fatma Bastaki, Pratibha Nair, Madiha Mohamed, Ethar Mustafa Malik, Mustafa Helmi, Mahmoud Taleb Al-Ali and Abdul Rezzak Hamzeh

    BMC Medical Genetics 2017 18:68

    Published on: 15 June 2017

  11. Research article

    MLPA identification of dystrophin mutations and in silico evaluation of the predicted protein in dystrophinopathy cases from India

    Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive disorders caused by mutations in the DMD gene. The aim of this study was to predict the effect of gene mutations on ...

    Sekar Deepha, Seena Vengalil, Veeramani Preethish-Kumar, Kiran Polavarapu, Atchayaram Nalini, Narayanappa Gayathri and Meera Purushottam

    BMC Medical Genetics 2017 18:67

    Published on: 13 June 2017

  12. Research article

    Two novel C-terminal frameshift mutations in the β-globin gene lead to rapid mRNA decay

    The thalassemia syndromes are classified according to the globin chain or chains whose production is affected. β-thalassemias are caused by point mutations or, more rarely, deletions or insertions of a few nuc...

    Katarzyna Rawa, Roman J. Szczesny, Ewelina P. Owczarek, Anna Adamowicz-Salach, Anna Klukowska, Urszula Demkow, Danuta Plochocka, Pawel Szczesny, Monika Gora, Andrzej Dziembowski and Beata Burzynska

    BMC Medical Genetics 2017 18:65

    Published on: 8 June 2017

  13. Case report

    A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report

    According to previous KCNQ1 (potassium channel, voltage gated, KQT-like subfamily, member 1) gene screening studies, missense variants, but not nonsense or frame-shift variants, cause the majority of long QT s...

    Motoi Nishimura, Marehiko Ueda, Ryota Ebata, Emi Utsuno, Takuma Ishii, Kazuyuki Matsushita, Osamu Ohara, Naoki Shimojo, Yoshio Kobayashi and Fumio Nomura

    BMC Medical Genetics 2017 18:66

    Published on: 8 June 2017

  14. Research article

    KCNJ11, ABCC8 and TCF7L2 polymorphisms and the response to sulfonylurea treatment in patients with type 2 diabetes: a bioinformatics assessment

    Type 2 diabetes (T2D) is a worldwide epidemic with considerable health and economic consequences. Sulfonylureas are widely used drugs for the treatment of patients with T2D. KCNJ11 and ABCC8 encode the Kir6.2 (po...

    Jingwen Song, Yunzhong Yang, Franck Mauvais-Jarvis, Yu-Ping Wang and Tianhua Niu

    BMC Medical Genetics 2017 18:64

    Published on: 6 June 2017

  15. Research article

    A novel SYNE1 gene mutation in a Chinese family of Emery-Dreifuss muscular dystrophy-like

    In the present study, a novel mutation in exon 46 at codon 2304 (G2304R) of the SYNE1 gene is described in a Chinese family (proband, mother, and sister) with Emery–Dreifuss muscular dystrophy-like, which clinica...

    Zuzhi Chen, Zhixia Ren, Wenli Mei, Qiankun Ma, Yingying Shi, Yuanxing Zhang, Shujian Li, Li Xiang and Jiewen Zhang

    BMC Medical Genetics 2017 18:63

    Published on: 5 June 2017

  16. Case report

    Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report

    Whole exome sequencing is a powerful tool for the analysis of genetically heterogeneous conditions. The prioritization of variants identified often focuses on nonsense, frameshift and canonical splice site mut...

    Darina Prchalova, Marketa Havlovicova, Katalin Sterbova, Viktor Stranecky, Miroslava Hancarova and Zdenek Sedlacek

    BMC Medical Genetics 2017 18:62

    Published on: 2 June 2017

  17. Case report

    Clinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM10 alteration

    Diagnostic Exome Sequencing (DES) has been shown to be an effective tool for diagnosis individuals with suspected genetic conditions.

    Zöe Powis, Alexa Hart, Sara Cherny, Igor Petrik, Erika Palmaer, Sha Tang and Carolyn Jones

    BMC Medical Genetics 2017 18:60

    Published on: 2 June 2017

  18. Research article

    Novel APC gene mutations associated with protein alteration in diffuse type gastric cancer

    The role of adenomatous polyposis coli (APC) gene in mitosis might be critical for regulation of genomic stability and chromosome segregation. APC gene mutations have been associated to have a role in colon ca...

    Souvik Ghatak, Payel Chakraborty, Sandeep Roy Sarkar, Biswajit Chowdhury, Arup Bhaumik and Nachimuthu Senthil Kumar

    BMC Medical Genetics 2017 18:61

    Published on: 2 June 2017

  19. Case report

    Severe child form of primary hyperoxaluria type 2 - a case report revealing consequence of GRHPR deficiency on metabolism

    Primary hyperoxaluria type 2 is a rare monogenic disorder inherited in an autosomal recessive pattern. It results from the absence of the enzyme glyoxylate reductase/hydroxypyruvate reductase (GRHPR). As a con...

    Jana Konkoľová, Ján Chandoga, Juraj Kováčik, Marcel Repiský, Veronika Kramarová, Ivana Paučinová and Daniel Böhmer

    BMC Medical Genetics 2017 18:59

    Published on: 31 May 2017

  20. Technical advance

    A simple, fast and inexpensive method for mutation scanning of CFTR gene

    Mutation scanning methods in Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene may not distinguish between a Cystic Fibrosis (CF) causing mutation and a benign variant. We have developed a simple...

    Juan Emilio Figueredo Lago, Anny Armas Cayarga, Yaimé Josefina González González and Teresa Collazo Mesa

    BMC Medical Genetics 2017 18:58

    Published on: 25 May 2017

  21. Case report

    Pancreas and gallbladder agenesis in a newborn with semilobar holoprosencephaly, a case report

    Pancreatic agenesis is an extremely rare cause of neonatal diabetes mellitus and has enabled the discovery of several key transcription factors essential for normal pancreas and beta cell development.

    Robert Hilbrands, Kathelijn Keymolen, Alex Michotte, Miriam Marichal, Filip Cools, Anieta Goossens, Peter In’t Veld, Jean De Schepper, Andrew Hattersley and Harry Heimberg

    BMC Medical Genetics 2017 18:57

    Published on: 19 May 2017

  22. Research article

    Association of 4p14 and 6q27 variation with Graves disease: a case–control study and a meta-analysis of available evidence

    The etiology of the Graves’ disease (GD) is largely unknown. However, genetic factors are believed to play a major role. A recent genome-wide association study in a Han Chinese sample collection revealed two n...

    Fa-Mei Li, Lin Liu, Li-Nan Pang, Min Shen, Hong-Wen Lu, Xiao-Hong Zhang, Xun Chu and Zhen-ju Song

    BMC Medical Genetics 2017 18:56

    Published on: 18 May 2017

  23. Research article

    A case–control study of selenoprotein genes polymorphisms and autoimmune thyroid diseases in a Chinese population

    Selenium is an essential trace and there is a high selenium concentration in the thyroid gland. Selenium deficiency may impair the thyroid function. The aim of this study was to investigate the association bet...

    Ling Xiao, Jianghong Yuan, Qiuming Yao, Ni Yan, Ronghua Song, Wenjuan Jiang, Danfeng Li, Liangfeng Shi and Jin-an Zhang

    BMC Medical Genetics 2017 18:54

    Published on: 12 May 2017

  24. Research article

    Characterization of a splice-site mutation in the tumor suppressor gene FLCN associated with renal cancer

    Renal cell carcinoma is among the most prevalent malignancies. It is generally sporadic. However, genetic studies of rare familial forms have led to the identification of mutations in causative genes such as VHL ...

    Malte P. Bartram, Tripti Mishra, Nadine Reintjes, Francesca Fabretti, Hakam Gharbi, Alexander C. Adam, Heike Göbel, Mareike Franke, Bernhard Schermer, Stefan Haneder, Thomas Benzing, Bodo B. Beck and Roman-Ulrich Müller

    BMC Medical Genetics 2017 18:53

    Published on: 12 May 2017

Previous Page Page 1 of 64 Next Page