Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia: a case report
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... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - May 1, 2020 Category: Genetics & Stem Cells 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-P áez Tags: Case report Source Type: research
Association between IL28B Polymorphisms and Outcomes of Hepatitis B Virus Infection: A meta-analysis
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... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - May 1, 2020 Category: Genetics & Stem Cells Authors: Jingyu Zhao, Xinyue Zhang, Liwei Fang, Hong Pan and Jun Shi Tags: Research article Source Type: research
The true panel of cystic fibrosis mutations in the Sicilian population
The aim was to establish the true risk of having an affected child with Cystic Fibrosis (CF) in the Sicilian infertile population. (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - May 1, 2020 Category: Genetics & Stem Cells Authors: Sandrine Chamayou, Maria Sicali, Debora Lombardo, Elena Maglia, Annalisa Liprino, Clementina Cardea, Michele Fichera, Ermanno Venti and Antonino Guglielmino Tags: Research article Source Type: research
Correlation of gene polymorphisms of vascular endothelial growth factor with grade and prognosis of lung cancer
This study aimed to analyze the correlation of ... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - April 30, 2020 Category: Genetics & Stem Cells Authors: Changjiang Liu, Xuetao Zhou, Zefeng Zhang and Yang Guo Tags: Research article Source Type: research
No association between the Ser9Gly polymorphism of the dopamine receptor D3 gene and schizophrenia: a meta-analysis of family-based association studies
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... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - April 21, 2020 Category: Genetics & Stem Cells Authors: Xiao-na Li, Ji-long Zheng, Xiao-han Wei, Bao-jie Wang and Jun Yao Tags: Research article Source Type: research
Correlation between gene polymorphism in angiotensin II type 1 receptor and type 2 diabetes mellitus complicated by hypertension in a population of Inner Mongolia
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... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - April 19, 2020 Category: Genetics & Stem Cells Authors: Lina Hou, Xiaohong Quan, Xian Li and Xiulan Su Tags: Research article Source Type: research
A case report of NPHP1 deletion in Chinese twins with nephronophthisis
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... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - April 19, 2020 Category: Genetics & Stem Cells Authors: Feng Chen, Limeng Dai, Jun Zhang, Furong Li, Jinbo Cheng, Jinghong Zhao and Bo Zhang Tags: Case report Source Type: research
Genetic factors in rotator cuff pathology: potential influence of col 5A1 polymorphism in outcomes of rotator cuff repair
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... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - April 17, 2020 Category: Genetics & Stem Cells Authors: Stefano Petrillo, Umile Giuseppe Longo, Katia Margiotti, Vincenzo Candela, Caterina Fusilli, Giacomo Rizzello, Alessandro De Luca and Vincenzo Denaro Tags: Research article Source Type: research
Reporting a rare form of myopathy, myopathy with extrapyramidal signs, in an Iranian family using next generation sequencing: a case report
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... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - April 15, 2020 Category: Genetics & Stem Cells Authors: Marzieh Mojbafan, Somayeh Takrim Nojehdeh, Faezeh Rahiminejad, Yalda Nilipour, Seyed Hasan Tonekaboni and Sirous Zeinali Tags: Case report Source Type: research
Identification and analysis of KLF13 variants in patients with congenital heart disease
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... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - April 15, 2020 Category: Genetics & Stem Cells Authors: Wenjuan Li, Baolei Li, Tingting Li, Ergeng Zhang, Qingjie Wang, Sun Chen and Kun Sun Tags: Research article Source Type: research
Congenital chloride diarrhea and Pendred syndrome: case report of siblings with two rare recessive disorders of SLC26 family genes
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... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - April 15, 2020 Category: Genetics & Stem Cells Authors: Eva Lindberg, Claes Moller, Juha Kere, Satu Wedenoja and Agneta Anderz én-Carlsson Tags: Case report Source Type: research
Gastrointestinal symptoms as an extended clinical feature of Pierson syndrome: a case report and review of the literature
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... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - April 15, 2020 Category: Genetics & Stem Cells 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 Tags: Case report Source Type: research
Association study between common variations in some candidate genes and prostate adenocarcinoma predisposition through multi-stage approach in Iranian population
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, ... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - April 15, 2020 Category: Genetics & Stem Cells Authors: Behnaz Beikzadeh, Seyed Abdolhamid Angaji and Maryam Abolhasani Tags: Research article Source Type: research
Ovarian metastases from ileum cancer in a patient with germline EPCAM gene deletion successfully treated with surgical resection and CAPOX chemotherapy: a case report
We present the first case of ileum cancer in a patie... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - April 9, 2020 Category: Genetics & Stem Cells 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 Tags: Case report Source Type: research
Novel PYGL mutations in Chinese children leading to glycogen storage disease type VI: two case reports
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... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - April 8, 2020 Category: Genetics & Stem Cells Authors: Xiaomei Luo, Jiacheng Hu, Xueren Gao, Yanjie Fan, Yu Sun, Xuefan Gu and Wenjuan Qiu Tags: Case report Source Type: research
