|
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY
|
0.630 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY
|
0.630 |
GeneticVariation
|
disease |
BEFREE |
Our work reveals a non-classical spastic paraplegia, intellectual disability, nystagmus, and obesity phenotype for a KIDINS220 mutation, which broadens both the clinical and genetic spectrum for ADHSP.
|
31630374 |
2019 |
|
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY
|
0.630 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity.
|
27005418 |
2016 |
|
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY
|
0.630 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous mutations in KIDINS220 were recently suggested a cause of spastic paraplegia, intellectual disability, nystagmus and obesity.
|
28934391 |
2017 |
|
Obesity
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
Differing substantially from previous reports for KIDINS220 variants, our study family exhibited autosomal dominant inheritance, and only presented with spastic paraplegia, with no signs of intellectual disability, nystagmus, or obesity.
|
31630374 |
2019 |
|
Spastic Paraplegia
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
Differing substantially from previous reports for KIDINS220 variants, our study family exhibited autosomal dominant inheritance, and only presented with spastic paraplegia, with no signs of intellectual disability, nystagmus, or obesity.
|
31630374 |
2019 |
|
Intellectual Disability
|
0.110 |
GeneticVariation
|
group |
BEFREE |
Differing substantially from previous reports for KIDINS220 variants, our study family exhibited autosomal dominant inheritance, and only presented with spastic paraplegia, with no signs of intellectual disability, nystagmus, or obesity.
|
31630374 |
2019 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Results from ARMS testing showed EGFR mutations in tumor tissues from six (6) of 50 NSCLC patients of Uygur ethnic group, with a positive rate of 12.0%; four of them (4) had exon 19 deletion in EGFR, and two (2) had L858R point mutation in exon 21 of EGFR.
|
23803047 |
2013 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
KRAS ARMS-qPCR assays with amplicon lengths of 120 and 85 base pairs, respectively, were compared using positive control material (PCR fragments) and plasma samples from 46 colorectal cancer patients known to harbor a tumor KRAS mutation.
|
25446878 |
2015 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Of all, 16 patients both had tumor and plasma samples, the T790M mutation rates were 56.3% (9/16) by ARMS in tissue and 50.5% (8/16) by ddPCR in plasma ctDNA.
|
28000387 |
2017 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
We evaluated EGFR gene (exons 18, 19, 20 and 21) mutation status in paired plasma and tumor tissue from 94 NSCLC patients before EGFR-TKIs treatments using the Scorpion amplification refractory mutation system (Scorpion-ARMS) method.
|
26722512 |
2015 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
We investigated whether low levels of JAK2(V617F) are present in lymphoid neoplasms using a highly sensitive and highly specific amplification refractory mutation system PCR (ARMS-PCR) assay.
|
18032883 |
2007 |
|
Neutrophil count (procedure)
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women.
|
21507922 |
2011 |
|
Neutrophil count (procedure)
|
0.100 |
GeneticVariation
|
phenotype |
GWASDB |
Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women.
|
21507922 |
2011 |
|
Non-Small Cell Lung Carcinoma
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
A Comparison of ddPCR and ARMS for detecting EGFR T790M status in ctDNA from advanced NSCLC patients with acquired EGFR-TKI resistance.
|
28000387 |
2017 |
|
Non-Small Cell Lung Carcinoma
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
The Scorpions amplification refractory mutation system (Scorpions ARMS) was used to measure mutations in exons 18, 19, 20 and 21 of the EGFR gene in paraffin-embedded tumor tissue from NSCLC cases, and statistical analysis was performed to investigate links with clinicopathological features in different histological types of NSCLC.
|
23803047 |
2013 |
|
Non-Small Cell Lung Carcinoma
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
This study aimed to identify potential epidermal growth factor receptor (EGFR) gene mutations in non-small cell lung cancer that went undetected by amplification refractory mutation system-Scorpion real-time PCR (ARMS-PCR).
|
29214771 |
2018 |
|
Malignant Neoplasms
|
0.050 |
GeneticVariation
|
group |
BEFREE |
Fine needle aspirates, pleural effusion, cell blocks of 223 NSCLC patients, where cytology suggested malignancy were screened for EGFR mutation in exons 18-21 using Scorpion(®) ARMS real-time polymerase chain reaction (PCR) technology.
|
26740090 |
2016 |
|
Malignant Neoplasms
|
0.050 |
GeneticVariation
|
group |
BEFREE |
Both XPD (xeroderma pigmentosum group D) and XRCC1 (X-ray repair cross-complementing group 1) polymorphisms were characterized in 100 BC Egyptian females and 100 healthy women who had no history of any malignancy by amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) method and PCR with confronting two-pair primers (PCR-CTPP), using DNA from peripheral blood in a case control study.
|
21643959 |
2012 |
|
Malignant Neoplasms
|
0.050 |
GeneticVariation
|
group |
BEFREE |
We had genotyped 235 BPH/PCa samples (130 BPH and 105 cancer) along with 115 control samples for proinflammatory (TNF A -238G/A and -308G/A) and anti-inflammatory (IL-10 -1082A/G, -819C/T and -592C/A) cytokines SNPs in the gene promoter region using ARMS-PCR method.
|
28993831 |
2017 |
|
Psychotic Disorders
|
0.050 |
GeneticVariation
|
group |
BEFREE |
Since no abnormalities were found in first episode patients, ARMS, or healthy relatives, resting QEEG activity in the frequency bands examined is unlikely to be related to genetic predisposition to psychosis.
|
24486144 |
2014 |
|
Psychotic Disorders
|
0.050 |
GeneticVariation
|
group |
BEFREE |
ARMS services provide management of current problems, treatment to reduce risk of onset of psychotic disorder and monitoring of mental state, including attenuated psychotic symptoms.
|
31657288 |
2019 |
|
Psychotic Disorders
|
0.050 |
GeneticVariation
|
group |
BEFREE |
To address this inconsistency, the aim of the present study was to identify the relationship between OI ability, with regard to the hedonic attributes of odors, and the risk of transition to psychosis in individuals with an ARMS.
|
27765522 |
2017 |
|
Primary malignant neoplasm
|
0.050 |
GeneticVariation
|
group |
BEFREE |
Both XPD (xeroderma pigmentosum group D) and XRCC1 (X-ray repair cross-complementing group 1) polymorphisms were characterized in 100 BC Egyptian females and 100 healthy women who had no history of any malignancy by amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) method and PCR with confronting two-pair primers (PCR-CTPP), using DNA from peripheral blood in a case control study.
|
21643959 |
2012 |
|
Primary malignant neoplasm
|
0.050 |
GeneticVariation
|
group |
BEFREE |
Fine needle aspirates, pleural effusion, cell blocks of 223 NSCLC patients, where cytology suggested malignancy were screened for EGFR mutation in exons 18-21 using Scorpion(®) ARMS real-time polymerase chain reaction (PCR) technology.
|
26740090 |
2016 |