Clinical characteristics and mutation Spectrum of NF1 in 12 Chinese families with orbital/periorbital plexiform Neurofibromatosis type 1
Orbital/periorbital plexiform neurofibroma (OPPN) can compromise physical appearance and visual function. However, the clinical characteristics and NF1 mutation landscape in patients with heritable OPPN have not ... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - September 18, 2019 Category: Genetics & Stem Cells Authors: Peiwei Chai, Yingxiu Luo, Chuandi Zhou, Yefei Wang, Xianqun Fan and Renbing Jia Tags: Research article Source Type: research
Metastatic colorectal cancer and severe hypocalcemia following irinotecan administration in a patient with X-linked agammaglobulinemia: a case report
X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disorder caused by germline mutations in the Bruton tyrosine kinase (BTK) gene on X chromosome. These mutations disturb B-cell development, decrease... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - September 12, 2019 Category: Genetics & Stem Cells Authors: Mingming Li, Wei Chen, Xiaomeng Sun, Zhipeng Wang, Xun Zou, Hua Wei, Zhan Wang and Wansheng Chen Tags: Case report Source Type: research
Genetic variants in CYP4F2 were significantly correlated with susceptibility to ischemic stroke
Ischemic stroke (IS) is a serious cardiovascular disease and is associated with several single nucleotide polymorphisms (SNPs). However, the role of Cytochrome P450 family 4 subfamily F member 2 (CYP4F2) gene in ... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - September 11, 2019 Category: Genetics & Stem Cells Authors: Yuan Wu, Junjie Zhao, Yonglin Zhao, Tingqin Huang, Xudong Ma, Honggang Pang and Ming Zhang Tags: Research article Source Type: research
Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand
The objective of the present study was to examine clinical and m... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - September 11, 2019 Category: Genetics & Stem Cells Authors: Lukana Ngiwsara, Duangrurdee Wattanasirichaigoon, Thipwimol Tim-Aroon, Kitiwan Rojnueangnit, Saisuda Noojaroen, Arthaporn Khongkraparn, Phannee Sawangareetrakul, James R. Ketudat-Cairns, Ratana Charoenwattanasatien, Voraratt Champattanachai, Chulaluck Kup Tags: Research article Source Type: research
Screening of 31 genes involved in monogenic forms of obesity in 23 Pakistani probands with early-onset childhood obesity: a case report
Consanguine families display a high degree of homozygosity which increases the risk of family members suffering from autosomal recessive disorders. Thus, homozygous mutations in monogenic obesity genes may be ... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - September 5, 2019 Category: Genetics & Stem Cells Authors: Robina Khan Niazi, Anette Prior Gjesing, Mette Hollensted, Christian Theil Have, Dmitrii Borisevich, Niels Grarup, Oluf Pedersen, Asmat Ullah, Gulbin Shahid, Ifrah Shafqat, Asma Gul and Torben Hansen Tags: Research article Source Type: research
