Results 21 to 30 of about 427,618 (269)

Genetic Diagnosis of Rubinstein–Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant

Frontiers in Genetics, 2022
Rubinstein–Taybi Syndrome (RSTS) is a rare congenital disease with distinctive facial features, broadening of the thumbs and halluces, and developmental delay. RSTS is caused by de novo genetic alterations in CREBBP and the homologous EP300 genes.
Yu-Rong Lee, Yu-Rong Lee, Yu-Chen Lin, Yu-Chen Lin, Yi-Han Chang, Yi-Han Chang, Hsin-Yu Huang, Yi-Kai Hong, Yi-Kai Hong, Wilson Jr F. Aala, Wei-Ting Tu, Meng-Che Tsai, Yen-Yin Chou, Chao-Kai Hsu, Chao-Kai Hsu, Chao-Kai Hsu   +15 more
doaj   +1 more source

The tao of MPS: Common novel variants [PDF]

Forensic Science International: Genetics Supplement Series, 2017
Abstract The introduction of massively parallel sequencing (MPS) to forensic genetics has led to improvements in multiple aspects of DNA analysis, however additional complexities are concurrently associated with these advances. In relation to STR analysis, the move to assign alleles using sequence rather than length based methodologies has highlighted
Devesse, L. A., Ballard, D.J., Davenport, L.B., Gettings, K.B., Borsuk, L.A., Vallone, P.M., Syndercombe Court, D.   +6 more
openaire   +4 more sources

A novel compound heterozygous variant in ALPK3 induced hypertrophic cardiomyopathy: a case report

Frontiers in Cardiovascular Medicine, 2023
BackgroundMalignant hypertrophic cardiomyopathy (HCM) phenotypes have potential risks of severe heart failure, fatal arrhythmia, and sudden cardiac death. Therefore, it is critical to predict the clinical outcomes of these patients.
Tiange Li, Tiange Li, Yuxi Jin, Rui Liu, Rui Liu, Yimin Hua, Kaiyu Zhou, Shuhua Luo, Yifei Li, Donghui Zhang   +9 more
doaj   +1 more source

Expanding the mutational and clinical spectrum of Chinese intellectual disability patients with two novel CTCF variants

Frontiers in Pediatrics, 2023
CCCTC-Binding Factor (CTCF) is a protein-coding gene involved in transcriptional regulation, insulator activity, and regulation of chromatin structure, and is closely associated with intellectual developmental disorders.
Bo Tan, Sihan Liu, Xiaoshu Feng, Xin Pan, Guanhua Qian, Li Liu, Xu Zhang, Hong Yao, Xiaojing Dong   +8 more
doaj   +1 more source

Novel variant of common variable immunodeficiency [PDF]

BMJ Case Reports, 2017
A 57-year-old woman with frequent respiratory infections was initially diagnosed with IgG subclass deficiency based on low levels of IgG subclasses 2 and 3. Three years later, she progressed to having IgA deficiency as well. With a normal total IgG level, she does not meet criteria for common variable immunodeficiency (CVID).
openaire   +2 more sources

Novel +90G>A Intronic Polymorphism of CYP2D6 [PDF]

Cell Journal, 2015
Objective: CYP2D6, an enzyme, metabolizes a large number of commonly prescribed drugs. Variations in CYP2D6 gene encoding this enzyme have been associated with individual differences in drug metabolism rates.
Monir Modaresi-nejad, Marzieh Shiva, Parvaneh Afsharian   +2 more
doaj  

Case Report: Successful Management of a 29-Day-Old Infant With Severe Hyperlipidemia From a Novel Homozygous Variant of GPIHBP1 Gene

Frontiers in Pediatrics, 2022
BackgroundSevere hyperlipidemia is characterized by markedly elevated blood triglyceride levels and severe early-onset cardiovascular diseases, pancreatitis, pancreatic necrosis or persistent multiple organ failure if left untreated.
Shu Liu, Zhiqing Wang, Xianhua Zheng, Ye Zhang, Sisi Wei, Haimei OuYang, Jinqun Liang, Nuan Chen, Weihong Zeng, Jianhui Jiang   +9 more
doaj   +1 more source

Detection of novel Fabry disease‐associated pathogenic variants in Japanese patients by newborn and high‐risk screening

Molecular Genetics & Genomic Medicine, 2020
Background In Japan, newborn and high‐risk screening for Fabry disease (FD), an inherited X‐linked disorder caused by GLA mutations, using dried blood spots was initiated in 2006. In newborn screening, 599,711 newborns were screened by December 2018, and
Takaaki Sawada, Jun Kido, Keishin Sugawara, Shirou Matsumoto, Fumio Takada, Kazuya Tsuboi, Akira Ohtake, Fumio Endo, Kimitoshi Nakamura   +8 more
doaj   +1 more source

Novel RNA variants in colorectal cancers

Oncotarget, 2015
With an annual estimated incidence of 1.4 million, and a five-year survival rate of 60%, colorectal cancer (CRC) is a major clinical burden. To identify novel RNA variants in CRC, we analyzed exon-level microarray expression data from a cohort of 202 CRCs.
Andreas M, Hoff, Bjarne, Johannessen, Sharmini, Alagaratnam, Sen, Zhao, Torfinn, Nome, Marthe, Løvf, Anne C, Bakken, Merete, Hektoen, Anita, Sveen, Ragnhild A, Lothe, Rolf I, Skotheim   +10 more
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Novel N-Terminal Variant of Human VDR [PDF]

Molecular Endocrinology, 2001
The importance of N-terminal regions of nuclear hormone receptors in transcriptional regulation is increasingly recognized. As variant VDR gene transcripts indicated possible N-terminally extended receptors, we investigated their natural occurrence, transactivation capacity, and subcellular localization. A novel 54-kDa VDRB1 protein, in addition to the
Sunn, K. L., Cock, T. A., Crofts, L. A., Eisman, J. A., Gardiner, E. M.   +4 more
openaire   +3 more sources