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Research article
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...
BMC Medical Genetics 2017 18:77
Published on: 24 July 2017
Research article
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.
BMC Medical Genetics 2017 18:76
Published on: 24 July 2017
Case report
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...
BMC Medical Genetics 2017 18:75
Published on: 19 July 2017
Research article
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...
BMC Medical Genetics 2017 18:74
Published on: 18 July 2017
Case report
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...
BMC Medical Genetics 2017 18:73
Published on: 17 July 2017
Research article
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...
BMC Medical Genetics 2017 18:72
Published on: 14 July 2017
Software
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...
BMC Medical Genetics 2017 18:71
Published on: 14 July 2017
Research article
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...
BMC Medical Genetics 2017 18:70
Published on: 6 July 2017
Research article
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...
BMC Medical Genetics 2017 18:69
Published on: 26 June 2017
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...
BMC Medical Genetics 2017 18:68
Published on: 15 June 2017
Research article
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 ...
BMC Medical Genetics 2017 18:67
Published on: 13 June 2017
Research article
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...
BMC Medical Genetics 2017 18:65
Published on: 8 June 2017
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...
BMC Medical Genetics 2017 18:66
Published on: 8 June 2017
Research article
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...
BMC Medical Genetics 2017 18:64
Published on: 6 June 2017
Research article
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...
BMC Medical Genetics 2017 18:63
Published on: 5 June 2017
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...
BMC Medical Genetics 2017 18:62
Published on: 2 June 2017
Case report
Diagnostic Exome Sequencing (DES) has been shown to be an effective tool for diagnosis individuals with suspected genetic conditions.
BMC Medical Genetics 2017 18:60
Published on: 2 June 2017
Research article
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...
BMC Medical Genetics 2017 18:61
Published on: 2 June 2017
Case report
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...
BMC Medical Genetics 2017 18:59
Published on: 31 May 2017
Technical advance
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...
BMC Medical Genetics 2017 18:58
Published on: 25 May 2017
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.
BMC Medical Genetics 2017 18:57
Published on: 19 May 2017
Research article
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...
BMC Medical Genetics 2017 18:56
Published on: 18 May 2017
Case report
Gastrointestinal involvement in Gaucher disease is very rare, and appears to be unresponsive to enzyme replacement therapy (ERT).
BMC Medical Genetics 2017 18:55
Published on: 15 May 2017
Research article
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...
BMC Medical Genetics 2017 18:54
Published on: 12 May 2017
Research article
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 ...
BMC Medical Genetics 2017 18:53
Published on: 12 May 2017
