Heterozygote Scanning Of Human Genetic Disorders

Genea # Samp Amplicon Dye Inst Heterozygote Homozygote Title Author Year Ref Links Email
Length Sensitivity Specificity Sensitivity
# min max % # % # % #
96 10 250 330 S9 7900HT Genetic high throughput screening in Retinitis Pigmentosa based on high.. Anasagasti 2013
 
 
1550 8 RL LC480 Rapid Prenatal Diagnosis of Common Numerical Chromosomal Abnormalities by.. Zhou 2013
 
 
48 1 RL LC480 Rapid Diagnosis of Aneuploidy by High-Resolution Melting Analysis of.. Guo 2012
 
 
EG, LCG+, LCG1, RL, S9 LC, RG, LS Is High Resolution Melting Analysis (HRMA) Accurate for Detection of Human.. Li 2011
 
 
135 171 RL High Resolution Melting Curve Analysis of DNA Sequence Alterations of.. Becságh 2010
 
 
6 3 50 243 S9 RG Complete discrimination of six individuals based on high-resolution.. Gidlöf 2009
 
 
Simultaneous mutation scanning and genotyping by high-resolution DNA.. Montgomery 2007
 
 
12 1 RL LC Nano High-resolution melting analysis for mutation scanning in the non-coding.. Nakamichi 2014
 
 
12 1 RL LC Nano High-resolution melting analysis for mutation scanning in the non-coding.. Nakamichi 2014
 
 
83 1 HR-1 Pyrosequencing Is an Accurate and Reliable Method for the Analysis of.. Yan 2014
 
 
β-globin 4 4 LCG+, SG1 ABI7300, RG, RealPlex4S, LS, LC480, Stratagene Mx3005p Expanded Instrument Comparison of Amplicon DNA Melting Analysis for.. Herrmann 2007
 
 
α-globin 54 3 172 264 LCG+ Screening for mutations in the α -globin genes leading to abnormal.. Liu 2012
 
 
α-thal 80 1 106 106 LCG+ LS High-resolution melting analysis of the three common nondeletional.. Li 2010
 
 
β-globin 43 4 124 224 SG1 RG Detection of α-thalassemia-1 Southeast Asian and Thai Type Deletions.. Pornprasert 2011
 
 
β-globin 1 110 110 LCG+ ABI 7000, 7900HT, iCycler, SmartCycler, RG, HR-1, LS, LC 1.2, and LC 2.0 Amplicon DNA Melting Analysis for Mutation Scanning and Genotyping:.. Herrmann 2006
 
 
β-globin 1 110 110 LCG+ ABI 7000, 7900HT, iCycler, SmartCycler, RG, HR-1, LS, LC 1.2, and LC 2.0 Amplicon DNA Melting Analysis for Mutation Scanning and Genotyping:.. Herrmann 2006
 
 
β-globin 60 4 124 201 EG Eco High resolution melting analytical platform for rapid prenatal and.. Prajantasen 2015
 
 
23S rRNA 111 2 67 147 S9 LC480 Transmission and Selection of Macrolide Resistant Mycoplasma genitalium.. Twin 2012
 
 
28 genes 80 RL LC480 High resolution melting: improvements in the genetic diagnosis of.. Santos 2012
 
 
32 Genes 13 LC480 Genetic diagnosis of hypertrophic cardiomyopathy using mass spectrometry.. Santos 2011
 
 
aac(6)-Ib-cr 1 2 73 74 SG1 RG High-Resolution Melt Curve Analysis for Identification of Single.. Hidalgo-Grass 2010
 
 
ABCA4 420 Outcome of ABCA4 Disease-Associated Alleles in Autosomal Recessive Retinal.. Riveiro-Alvarez 2013
 
 
ABCA4 80 LCG+ LS Phenotypic and genetic spectrum of Danish patients with ABCA4-related.. Duno 2012
 
 
ABCA4 58 Comparison of High-Resolution Melting Analysis with Denaturing.. Aguirre-Lamban 2010
 
 
ABCA4 30 Generalized Choriocapillaris Dystrophy, a Distinct Phenotype in the.. Bertelsen 2014
 
 
ABCB11 20 27 113 321 LCG+ LS Diagnosis of ABCB11 gene mutations in children with intrahepatic.. Hu 2014
 
 
ABCG2 510 1 EG RG Defining the Jr(a–) phenotype in the Japanese population Tanaka 2013
 
 
ACAD9, FOXRED1, NDUFA1, NDUFA10, NDUFAF2, NDUFAF4, NDUFS1, NDUFS2, NDUFS4 and NDUFS6. 152 266 LCG+ LS Mutation screening of 75 candidate genes in 152 complex I deficiency cases.. Haack 2012
 
 
ACADM 18 13 129 223 LCG1 HR-1 0 Rapid, comprehensive screening of the human medium chain acyl-CoA.. McKinney 2004
 
 
ACADVL 146 20 LCG+ LS High-resolution melting analysis, a simple and effective method for.. Olsen 2010
 
 
ACTN2 23 21 197 331 LCG+ LS Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a.. Chiu 2010
 
 
ACTN4 48 2 RL LC480 Mutational Analysis of ACTN4, Encoding α-Actinin 4, in Patients with.. Šafaříková 2013
 
 
ACVRL1 22 12 184 302 LCG1 HR-1 96.4 28 0 Identifying Common Genetic Variants by High-Resolution Melting. Vandersteen 2007
 
 
alpha-globin 672 2 SG1 RG Criteria for detection of alpha-thalassemia-1 Thai type deletion in.. Pornprasert 2013
 
 
alpha2-globin 114 2 180 253 SG1 Unmasking Hb Paksé (codon 142, TAA>TAT, α2) and its combinations in.. Pornprasert 2012
 
 
ALPL 3844 LS Prevalence of c.1559delT in ALPL, a common mutation resulting in the.. Watanabe 2011
 
 
ANO3, GNAL 342 36 LS Rare Sequence Variants in ANO3 and GNAL in a Primary Torsion Dystonia.. Zech 2013
 
 
apo(a) 1029 RL LC480 The apo(a) gene (TTTTA)n promoter polymorphism and its association with.. Hirschfeldova 2009
 
 
APOB 35 2 156 365 EG HR-1 High-resolution melting analysis for detection of familial.. Liyanage 2008
 
 
APOB, PCSK9 30 25 LCG+, S9 RG Development of a high-resolution melting method for mutation detection in.. Whittall 2010
 
 
ApoE 924 EG LC480 The Association between Apolipoprotein E Gene Polymorphism and Mild.. Wang 2014
 
 
ATM 1356 2 350 350 0.48X LCG+ LS 0 Description and validation of high-throughput simultaneous genotyping and.. Nguyen-Dumont 2009
 
 
ATM, CFTR, HFE 20 1 84 84 LCG+ HR-1 Solution-phase DNA mutation scanning and SNP genotyping by nanoliter.. Sundberg 2007
 
 
ATP7B 14 26 165 381 RL LC480 Development of a high-resolution melting method for the screening of.. Lin 2010
 
 
ATP7B 30 73 520 S9 HR-1 100 19 100 19 Rapid detection of common ATP7B mutation in Wilson disease by high.. Zhao 2008
 
 
AURKB, SYCP3 102 3 SG1 LC480 Mutation screening of AURKB and SYCP3 in patients with reproductive.. Lopez-Carrasco 2013
 
 
AZF 54 RG Association of azoospermia factor region deletions in infertile male.. Hussein 2014
 
 
AZFc 54 2 385 527 EG RG Analysis of partial AZFc deletions in Malaysian infertile male subjects Almeamar 2013
 
 
AZFc 230 SG1, EG, S9 RG High-Throughput Screening for Spermatogenesis Candidate Genes in the AZFc.. Alechine 2014
 
 
b-globin 71 4 105 163 LCG+ HR-1 Rapid Identification of Common b-Thalassemia Mutations in the Chinese.. He 2010
 
 
b-globin 11 1 S9, SG1 RG SYTO9 and SYBR GREEN1 with a high-resolution melting analysis for prenatal.. Pornprasert 2010
 
 
BANK1 264 3 S9 RG Identification of BANK1 polymorphisms by unlabelled probe high resolution.. Guan 2011
 
 
BCR–ABL1 50 3 100 170 SG1 RG Early detection and quantification of mutations in the tyrosine kinase.. Ferri 2013
 
 
BDNF 554 7 LCG+ LC480 Screening for genetic variants in BDNF that contribute to childhood obesity Zegers 2013
 
 
beta(0)-thal 102 4 239 535 S9, SG1 RG SYTO9 and SYBR GREEN1 with high resolution melting analysis for molecular.. Chamras 2009
 
 
BRAF, KRAS 140 S9 LC480 Genotyping by Induced F¨ orster Resonance Energy Transfer (iFRET).. Masojc 2013
 
 
BRCA1 198 40 217 420 LCG+ LS 100 180 97.6 934 92.9 28 Diagnostic guidelines for high-resolution melting curve (HRM) analysis: an.. Van Der Stoep 2009
 
 
BRCA1 and BRCA2 384 94 LCG+ LC480 99.8 1595 99.4 21070 A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2.. Hondow 2011
 
 
BRCA1 and BRCA2 52 112 136 356 RL LC480 Advantage of high-resolution melting curve analysis over.. de Juan Jiménez 2011
 
 
BRCA1 and BRCA2 165 79 155 490 RL LC480 A One-Step Prescreening for Point Mutations and Large Rearrangement in.. Coulet 2010
 
 
BRCA1 and BRCA2 87 46 95 280 RL LC480 High-resolution melting analysis for rapid screening of BRCA1 and BRCA2.. de Juan 2009
 
 
BRCA1 and BRCA2 22 112 136 435 LCG+ LC480 Rapid and Sensitive Detection of BRCA1/2 Mutations in a Diagnostic.. De Leeneer 2008
 
 
BRCA1/2 29 3 159 534 RL LC480 100 29 0 Rapid detection of carriers with BRCA1 and BRCA2 mutations using high.. Takano 2008
 
 
BRCA1/BRCA2 192 21 LC480 Advantages of the high resolution melting in the detection of BRCA1 or.. de Juan Jiménez 2009
 
 
C2ORF71 286 LCG+ LS A Survey of DNA Variation of C2ORF71 in Probands with Progressive.. Sergouniotis 2011
 
 
CALR 153 1 265 265 RL LC480 High Resolution Melting Analysis: A Rapid and Accurate Method to Detect.. Bilbao-Sieyro 2014
 
 
CALR 102 1 298 298 RL LC480 Calreticulin mutations in myeloproliferative neoplasms and new methodology.. Chi 2015
 
 
CALR 32 1 134 134 EG CFX96 Rapid and sensitive detection of CALR exon 9 mutations using.. Lim 2015
 
 
CALR 23 1 LCG+ RG Evaluation of methods to detect CALR mutations in myeloproliferative.. Jones 2015
 
 
CALR, MPL, JAK2 388 Distinct clinical characteristics of myeloproliferative neoplasms with.. Andrikovics 2014
 
 
CASR 50 2 58 59 LCG+ HR96 Identification of rare and frequent variants of the CASR gene by.. Nissen 2012
 
 
CDKL5 135 25 170 364 100 3375 Validation of high-resolution DNA melting analysis for mutation scanning.. Raymond 2013
 
 
CFTR 45 11 198 201 LCG1 HR-1 100 45 100 45 100 45 High-resolution DNA melting analysis for simultaneous mutation scanning.. Zhou 2005
 
 
CFTR 30 37 146 322 LCG+ LS 100 87 80 20 Scanning the Cystic Fibrosis Transmembrane Conductance Regulator Gene.. Montgomery 2007
 
 
CFTR 52 19 101 380 LCG+ RG 100 23 96 28 100 1 Evaluation of High-Resolution Melting (HRM) for Mutation Scanning of.. Krenkova 2009
 
 
CFTR 26 9 175 458 LCG1 HR-1 100 20 50 2 A Comparison of High-Resolution Melting Analysis With Denaturing.. Chou 2005
 
 
CFTR 133 39 162 324 LCG+ LS 100 5187 Symmetric Snapback Primers for Scanning and Genotyping of the Cystic.. Zhou 2013
 
 
CFTR 307 32 179 412 LCG+ LS 100 232 Validation of high-resolution DNA melting analysis for mutation scanning.. Audrezet 2008
 
 
COL1A1 and COL1A2 50 122 80 260 EG RG 100 9760 100 9760 Validation of a Quantitative PCR–High-Resolution Melting Protocol for.. Gentile 2012
 
 
COL3A1 120 Ehlers-Danlos syndrome, vascular type: A novel missense mutation in the.. Masuno 2012
 
 
COL3A1 15 52 124 330 LCG+ LS A novel mutation screening system for Ehlers-Danlos Syndrome, vascular.. Naing 2011
 
 
Col4A5 90 56 198 300 RL LC480 Collagen type IV nephropathy: Genetic heterogeneity examinations in.. Endreffy 2011
 
 
COL4A5 41 RG Alport Retinopathy Results from “Severe” COL4A5 Mutations and Predicts.. Tan 2010
 
 
COX6A1, COX6A2, COX7A1, COX7A2, (SURF1, SCO1, SCO2, COX10, COX15, TACO1, LRPPRC, C2orf64, C20orf7, COX4I2 and COX6B1 60 71 191 724 LCG+ LS High-resolution melting analysis of 15 genes in 60 patients with.. Vondrackova 2012
 
 
CRB1 404 25 140 430 LC480 73 7373 100 10100 High frequency of CRB1 mutations as cause of Early-Onset Retinal.. Corton 2013
 
 
CTXN3 and SLC12A2 115 28 LCG+ LS Association of CTXN3-SLC12A2 polymorphisms and schizophrenia in a Thai.. Panichareon 2012
 
 
CYBB 78 13 180 401 LCG+ LS 100 6 100 6 0 High resolution melting analysis for gene scanning Erali 2010
 
 
CYBB 28 39 162 324 LCG+ LS 100 1092 Symmetric Snapback Primers for Scanning and Genotyping of the Cystic.. Zhou 2013
 
 
CYBB 96 13 179 401 LCG+ LS Rapid Genetic Analysis of X-Linked Chronic Granulomatous Disease by.. Hill 2010
 
 
CYP17 and CYP19A 115 2 160 168 LC480 Polymorphic variants of CYP17 and CYP19A and risk of infertility in.. SZCZEPANSKA 2013
 
 
CYP21A2 200 6 118 283 RL LC480 High-resolution melting curve (HRM) analysis to establish CYP21A2.. Lin 2011
 
 
CYP2C8 96 15 RL LC480 Rapid identification of CYP2C8 polymorphisms by high resolution melting.. Chang 2012
 
 
CYP2D6 91 7 55 148 LCG+ LC480 96.7 616 100 637 100 637 Alternative Reliable Method for Cytochrome P450 2D6 Poor Metabolizers.. Pindurova 2013
 
 
CYP4A11 328 1 RL LC480 Association between the CYP4A11 T8590C Variant and Essential Hypertension:.. Yan 2013
 
 
CYP7B1 103 9 250 385 EG RG 0 White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1. Biancheri 2009
 
 
DKC1, TERT, TERC, NHP2, NOP10 and TINF2 4 34 LCG+ LS High resolution melting analysis for the identification of novel mutations.. Carrillo 2012
 
 
DMD 33 96 126 548 LCG+ LS 100 40 70.6 34 Rapid and cost effective detection of small mutations in the DMD gene by.. Almomani 2009
 
 
DMD 2 141 249 EG CFX96 100 282 Detection of hemi/homozygotes through heteroduplex formation in.. Cheng 2011
 
 
DMD 24 96 EG RG Duchenne muscular dystrophy: High-resolution melting curve analysis as an.. Esterhuizen 2014
 
 
DMD, APC 50 6 180 252 Comparative-high resolution melting: a novel method of simultaneous.. Borun 2014
 
 
DTNBP1 669 LCG+ LS Mutation Screening of the DTNBP1 Exonic Sequence in 669 Schizophrenics and.. Dwyer 2010
 
 
DYS14, β-globin 89 4 318 425 RL LC480 Noninvasive prenatal diagnosis experience in the Çukurova Region of.. Yenilmez 2013
 
 
EIF4G1 376 Variants in eukaryotic translation initiation factor 4G1 in sporadic.. Schulte 2012
 
 
EMILIN1 467 LCG+ LS Association of intronic single-nucleotide polymorphisms in the EMILIN1.. Oh 2012
 
 
ETFDH 1 RL LC480 Computational analysis of a novel mutation in ETFDH gene highlights its.. Er 2011
 
 
ETFDH 4 15 152 289 RL LC480 High resolution melting analysis facilitates mutation screening of ETFDH.. Er 2010
 
 
EXTL1−3, SDC2, SDC3, and PTHR1 27 LCG+ LS Determination of the Mutation Spectrum of the EXT1/EXT2 Genes in British.. Lonie 2006
 
 
F8 43 33 168 481 RL LC480 Mutation spectrum of 122 hemophilia A families from Taiwanese population.. Lin 2008
 
 
F8 20 20 168 436 LCG+ LC480, LS Detection of Factor VIII Gene Mutations by High- Resolution Melting.. Laurie 2007
 
 
F8 20 20 168 436 LCG+ LC480, LS Detection of Factor VIII Gene Mutations by High- Resolution Melting.. Laurie 2007
 
 
F9 107 7 151 298 RG EG Spectrum of F9 mutations in Chinese haemophilia B patients: identification.. Yu 2012
 
 
FADS 505 5 50 62 LCG+ LS FADS Gene Polymorphisms Confer the Risk of Coronary Artery Disease in a.. Li 2013
 
 
FBN1 82 75 179 301 RL LC480 Identification of fibrillin-1 gene mutations in Marfan syndrome by.. Hung 2009
 
 
FGF8 360 RL LC480 A Hypomorphic Allele in the FGF8 Gene Contributes to Holoprosencephaly and.. Arauz 2010
 
 
FGFR3 2 1 LCG+ LS Rapid Detection of Common Mutations of the FGFR3 Gene Causing.. Yang 2012
 
 
FGFR3 12 1 123 123 LCG+ HR-1 Rapid Detection of G1138A and G1138C Mutations of the FGFR3 Gene in.. He 2012
 
 
FLT 3, NPM1, MLL-PTD 99 3 S82 LC480 High-resolution melting curve analysis, a rapid and affordable method for.. Liu 2014
 
 
FMR1 508 400 LCG+ LS-96 Point mutation frequency in the FMR1 gene as revealed by fragile X.. Handt 2014
 
 
FTL 18 1 149 149 RG High resolution melting for the identification of mutations in the iron.. Castiglioni 2010
 
 
FUT2 294 2 RL LC480 Genetic variation of FUT2 in a Vietnamese population: identification of.. Soejima 2012
 
 
G6PD 260 12 64 137 LCGI RC 0 Rapid and Reliable Detection of Glucose-6-phosphate dehydrogenase Yan 2007
 
 
G6PD 1450 12 64 137 LCG+ LC480 Glucose-6-phosphate dehydrogenase (G6PD) gene mutations detection by.. Pan 2013
 
 
G6PD High-resolution melting: Applications in genetic disorders Er 2012
 
 
G6PD 260 12 64 137 Rapid and Reliable Detection of Glucose-6-Phosphate Dehydrogenase (G6PD).. Yan 2010
 
 
G6PD 2500 12 64 137 LCG+ LC480 Incidence and molecular characterization of Glucose-6-Phosphate.. Yang 2014
 
 
GAA 2 25 169 377 SG LC480 100 Development of a feasible assay for the detection of GAA mutations in.. Er 2013
 
 
GIGYF2 389 LS No evidence for pathogenic role of GIGYF2 mutation in Parkinson disease in.. Li 2010
 
 
GJA3 13 1 296 296 EG RG Coralliform cataract caused by a novel connexin46 (GJA3) mutation in a.. Zhang 2012
 
 
GJB1 32 4 185 458 LCG+ LS 100 18 100 18 100 18 Mutation scanning the GJB1 gene with high-resolution melting analysis:.. Kennerson 2007
 
 
GJB1 11 107 350 X-linked distal hereditary motor neuropathy maps to the DSMAX locus on.. Kennerson 2009
 
 
GJB2 and PRPH2 4 Combination of retinitis pigmentosa and hearing loss caused by a novel.. Fakin 2012
 
 
GLA 9 LC480 Novel α-galactosidase A mutation in patients with severe cardiac.. Duro 2013
 
 
GLA 6 7 LC480 Identification of a novel mutation in the alpha-galactosidase A gene in.. Colomba 2012
 
 
GLA 740 7 285 443 RL LC480 Genetic screening of Fabry patients with EcoTILLING and HRM technology Bono 2011
 
 
GLA, G6PC 6 4 251 300 S9 ABI 7500 Rapid Molecular Diagnosis of Genetic Diseases by High Resolution Melting.. Ezgu 2013
 
 
GLO1 and HAGH 143 143 EG ABI 7500 Weak association of glyoxalase 1 (GLO1) variants with autism spectrum.. Kovac 2014
 
 
GNAS 91 1 96 96 RL LC480 Diagnostic value of investigating GNAS mutations in fibro-osseous lesions:.. Tabareau-Delalande 2013
 
 
GRIA2, GRIA4 284 7 120 150 S9 RG Genetic Analysis of GRIA2 and GRIA4 Genes in Migraine Gasparini 2013
 
 
GRM3 1099 10 Various LC480 Genetic Association, Mutation Screening, and Functional Analysis of a.. Kandaswamy 2013
 
 
GRN 381 Progranulin genetic screening in frontotemporal lobar degeneration.. Bagnoli 2012
 
 
GSTP1 897 2 209 224 LCG+ LS 98.2 274 98.6 289 50.8 61 High-resolution melting curve analysis of genomic and whole-genome.. Cho 2008
 
 
GYP.Mur and GYPB 379 LCG+ LS-96 A direct blood polymerase chain reaction approach for the determination of.. Hsu 2013
 
 
Hb CS 61 2 180 180 S9 RG Rapid identification of heterozygous and homozygous hemoglobin constant.. Pornprasert 2012
 
 
HBA2 62 4 170 797 SGER LC480 0 Development of a high-resolution melting method for the detection of.. Shih 2010
 
 
HBB 20 2 144 247 RL LC480 100 40 100 40 100 40 Rapid and inexpensive detection of common HBB gene mutations in Tunisian.. Ouragini 2013
 
 
HBB 72 9 154 404 RL LC480 Rapid identification of HBB gene mutations by high-resolution melting.. Shih 2009
 
 
HFE 90 EG RG 100 100 100 High resolution melting analysis to genotype the most common variants in.. Marotta 2011
 
 
HFE, HJV, HAMP, TFR2, SLC40A1 1 Molecular Diagnostic and Pathogenesis of Hereditary Hemochromatosis Santos 2012
 
 
HIF-1α 398 2 LS96 Hypoxia-inducible factor-1α polymorphisms link to coronary artery.. Liu 2013
 
 
HMBS 97 13 219 634 LCG+ LS Detection of DNA variations in the polymorphic hydroxymethylbilane.. Ulbrichova-Douderova 2009
 
 
hMTH1, hOGG1 1197 2 139 221 LCG+ PTC-200 Combined analysis of polymorphism variants in hMTH1, hOGG1 and MUTYH genes.. Cao 2013
 
 
HTN3, IL19, MMP10, TGM4, CCL27, ALAS2 63 6 92 227 EG RG Rapid and inexpensive body fluid identification by RNA profiling-based.. Hanson 2013
 
 
IFNG 4346 4 171 278 EG LC480 Rare human IFNG variants Thye 2010
 
 
IGF1 95 24 206 483 LCG+ LS 0 Identification of genetic variants that influence circulating IGF1 levels:.. Palles 2008
 
 
IL2RA 427 1 101 101 S9 RG Association Analysis of the IL2RA Gene with Alopecia Areata in a Chinese.. Miao 2013
 
 
JAK2 97 1 184 184 S9 ABI7900 100 97 0 Interlabatory Development and validation of a HRM method applied to the.. Ugo 2010
 
 
JAK2 17 1 126 126 S9 ABI 7500 A Multiplexed Fragment Analysis-Based Assay for Detection of JAK2 Exon 12.. Furtado 2013
 
 
JAK2 6 1 164 164 LCG+ LS A Highly Sensitive Quantitative Real-Time PCR Assay for Determination of.. Kjær 2012
 
 
JAK2 40 RG Development and Inter-Laboratory Validation of Unlabeled Probe Melting.. Wu 2011
 
 
JAK2 59 1 118 118 LC480 Nested High-Resolution Melting Curve Analysis A Highly Sensitive,.. Carillo 2011
 
 
JAK2 140 1 127 127 S9 RG The mutation profile of JAK2 and CALR in Chinese Han patients with.. Wu 2014
 
 
KCND3 230 10 LS Mutations in Potassium Channel KCND3 Cause Spinocerebellar Ataxia Type 19 Duarri 2012
 
 
KCNH2 30 69 Evaluation of a New High-Throughput Next-Generation Sequencing Method.. Millat 2014
 
 
KCNQ1, KCNH2 3 250 308 S9 RG Development of a high resolution melting method for the detection of.. Millat 2011
 
 
KIT 69 2 137 219 RL LC480 100 10 100 10 100 1 Rapid Detection of KIT Mutation in Cor-Binding Factor Acute Myeloid.. Fuster 2009
 
 
LDLR 60 19 128 356 LCG+ LC480 96.3 54 0 Evaluation of high-resolution melting analysis for screening the LDL.. Laurie 2008
 
 
LDLR 27 1 291 291 RG Novel and recurrent LDLR gene mutations in Pakistani hypercholesterolemia.. Ahmed 2012
 
 
LDLR and APOB 52 LCG+ LS Sudden Cardiac Death in Young Adults: Environmental Risk Factors and.. Larsen 2012
 
 
LDLR, APOB or PCSK9 8 Mutation Detection in Croatian Patients with Familial Hypercholesterolemia Pecin 2013
 
 
LMNA 64 15 175 354 2.5 µM S9 RG 100 19 0 Validation of high-resolution DNA melting analysis for mutation scanning.. Millat 2009
 
 
LPL 134 7 152 283 RL LC480 0 Lipoprotein lipase mutation S447X associated with pancreatic calcification.. Chang 2009
 
 
LRRK2 205 S9 RG LRRK2 G2019S mutation: frequency and haplotype data in South African.. Bardien 2010
 
 
LTBP4 897 3 156 392 LCG+ LS 98.2 274 98.6 289 50.8 61 High-resolution melting curve analysis of genomic and whole-genome.. Cho 2008
 
 
LTF 687 5 RL LC480 Analysis of Polymorphisms in the Lactotransferrin Gene Promoter and Dental.. Brancher 2011
 
 
MC3R 249 LC480 Prevalence of rare MC3R variants in obese cases and lean controls Zegers 2013
 
 
MDR-1 1 200 200 RL LC480 Influencing factors of dsDNA dye (high-resolution) melting curves and.. Schütz 2009
 
 
MEFV, F5, and F2 34 4 148 244 RL LC480 Comparison of high-resolution melting analysis to denaturing high.. Sümer 2014
 
 
MLH1 76 20 195 387 RL LC480 Quantitative PCR high-resolution melting (qPCR-HRM) curve analysis, a new.. Rouleau 2009
 
 
MMAA 253 8 172 357 LCG+ LS-96 High resolution melting analysis of the MMAA gene in patients with cblA.. Dempsey-Nunez 2012
 
 
MMAB 223 9 130 215 LCG+ LS 96 High resolution melting analysis of the MMAB gene in cblB patients and in.. Illson 2013
 
 
MMADHC, MMACHC 48 RL LC480 Genetic and cellular studies of oxidative stress in methylmalonic aciduria.. Richard 2009
 
 
MPL 60 1 106 106 COLD-PCR and Innovative Microarray Substrates for Detecting and Genotyping.. Brisci 2012
 
 
MPL 221 Deep sequencing reveals double mutations in cis of MPL exon 10 in.. Pietra 2011
 
 
MPL, SRY 892 14 S9 RG Acquired copy-neutral loss of heterozygosity of chromosome 1p as a.. Rumi 2013
 
 
MT-ND2 33 LCG+ Identifying Sequence Variants in the Human Mitochondrial Genome Using.. Dobrowolski 2009
 
 
MTHFR 663 2 LCG+ RG Population distribution of methylenetetrahydrofolate reductase (MTHFR).. Efrati 2013
 
 
MTHFR, MTR 16 3 LC Nano Levels of Key Enzymes of Methionine-Homocysteine Metabolism in Preeclampsia Pérez-Sepúlveda 2013
 
 
MUTYH 82 3 186 297 RL LC480 Simplifying the detection of MUTYH mutations by high resolution melting.. López-Villar 2010
 
 
MVK, NLRP3 and TNFRSF1A 201 20 170 477 RL LC480 Combined Mutation And Rearrangement Screening by Quantitative PCR.. Pallares-Ruiz 2010
 
 
MYBPC3 75 Evaluation of a new NGSmethod based on a customAmpliSeq library and Ion.. Millat 2014
 
 
MYBPC3, MYH7, TNNT2, and TNNI3 34 89 S9, SG1 RG, LC480 Development of a high resolution melting method for the detection of.. Millat 2010
 
 
MYH7 69 3 192 286 LC 2.0 Beta-myosin heavy-chain mutations R403QLW, V606M, K615N and R663H in.. Atay 2014
 
 
MYH7, TNNT2, TNNI3 and LMNA) 105 RL LC480 Clinical and mutational spectrum in a cohort of 105 unrelated patients.. Millat 2011
 
 
MYH9 7 39 149 462 LCG+ LS High-resolution melting analysis for detection of MYH9 mutations Provaznikova 2008
 
 
ND1 1 1 RL LC480 A new mutation in MT-ND1 m.3928GNC p.V208L causes Leigh disease with.. Wray 2013
 
 
ND4, ND1 and ND6 50 3 108 153 EG RG Applications of the method of high resolution melting analysis for.. Cui 2013
 
 
NF2 92 15 177 284 S9 RG NF2 Mutation Screening by Denaturing High-Performance Liquid.. Sestini 2008
 
 
NFIX 48 S9 RG Missense mutations in the DNA-binding/dimerization domain of NFIX cause.. Yoneda 2012
 
 
NFKB1 493 1 S9 RG RNesueacrclhe araticrle Factor (NF) κB polymorphism is associated.. Santos 2010
 
 
NKX2.5, GATA4, GATA6, MYH6, TBX5, TBX20, NOTCH1, LPP 2 LCG+ LS Exome Analysis of a Family with Pleiotropic Congenital Heart Disease Arrington 2012
 
 
NLGN3, NLGN4X 62 19 S9 LC480 Identification of Four Novel Synonymous Substitutions in the X-Linked.. Yanagi 2012
 
 
NLRP7 38 LC480 NLRP7 Mutation Analysis in Sporadic Hydatidiform Moles in Tunisian Patients Landolsi 2012
 
 
NR5A1/SF-1 1 LC480 Predominant Sertoli cell deficiency in a 46,XY disorders of sex.. Philibert 2011
 
 
OTC 23 LS Streamlined assessment of gene variants by high resolution melt profiling.. Dobrowolski 2007
 
 
OXPHOS 11 4 SG 80 Phenotypic spectrum of eleven patients and five novel MTFMTmutations.. Haack 2013
 
 
p53 1 LCG+ RG Combination of a modified block PCR and endonuclease IV-based signal.. Xiao 2013
 
 
PAH 95 13 154 283 LCG+ LS Mutations in the phenylalanine hydroxylase gene identified in 95 patients.. Dobrowolski 2007
 
 
PARK2 91 1 µM S9 RG 0 Molecular analysis of the parkin gene in South African patients diagnosed.. Bardien 2009
 
 
PARK2 229 Mutations in the parkin gene are a minor cause of Parkinson’s disease in.. Haylett 2012
 
 
PARK2, PINK1, DJ-1, SNCA, LRRK2 and ATP13A2 202 S9 RG Identification of Parkinson's disease candidate genes using CAESAR and.. Keyser 2011
 
 
PAX9, EDA 4 2 166 321 CFX96 Novel PAX9 mutation associated with syndromic tooth agenesis Mostowska 2013
 
 
PCSK9, APOB 11 36 S9 RG The genetic spectrum of familial hypercholesterolemia in Pakistan Ahmed 2013
 
 
PEX6 75 16 LCG+ LS Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients Ebberink 2010
 
 
PHEX 209 22 RL LC480 PHEX analysis in 118 pedigrees reveals new genetic clues in.. Gaucher 2009
 
 
PINK1 154 S9 RG Assessing the prevalence of PINK1 genetic variants in South African.. Keyser 2010
 
 
PKD1 and PKD2 37 70 154 581 RL LC480 High Resolution Melt analysis for mutation screening in PKD1 and PKD2 Bataille 2011
 
 
PKD1 and PKD2 56 RL LC480 Novel mutations of PKD genes in the Czech population with autosomal.. Obeidova 2014
 
 
PKD2 16 17 EG RG High-Resolution Melt as a Screening Method in Autosomal Dominant.. Virzı 2014
 
 
PRKRA 339 LS DYT16 Revisited: Exome Sequencing Identifies PRKRA Mutations in a European.. Zech 2014
 
 
PRRT2 220 4 50 50 LS Mutations in PRRT2 are not a common cause of infantile epileptic.. Heron 2013
 
 
PSMC1 283 RL LC480 PSMC1 Gene in Parkinson’s Disease Gómez-Garre 2012
 
 
PTPN11 60 7 151 241 RL LC480 High resolution melting analysis for mutation detection for PTPN11 gene:.. Lo 2009
 
 
PTPN11 18 LCG+ HR-96 Molecular characterization of Chilean patients with a clinical diagnosis.. Rodríguez 2014
 
 
PYGM 12 18 279 606 LCG+ LS High-resolution melting facilitates mutation screening of PYGM in patients.. Duno 2009
 
 
qnr 118 RL LC480 Rapid detection of qnr and qepA plasmid-mediated quinolone resistance.. Guillard 2011
 
 
RB1 30 RL LC480 Low penetrance of retinoblastoma for p.V654L mutation of the RB1 gene Hung 2011
 
 
RET 25 1 106 106 RL LC480 Non-Invasive Prenatal Diagnosis of Multiple Endocrine Neoplasia Type 2A.. Macher 2012
 
 
RET 16 4 109 274 LCG+ HR-1 Masking selected sequence variation by incorporating mismatches into.. Margraf 2006
 
 
RET, PAX2 and ALDH1A2 75 3 95 124 RL LC480 Evaluation of High Resolution Melting analysis as an alternate tool to.. Raghavendra 2011
 
 
RUNX2 3 2 LCG+ LS The presence of germ line mosaicism in cleidocranial dysplasia Pal 2007
 
 
RYR1 16 2520 EG RG Screening of the Ryanodine 1 Gene for Malignant Hyperthermia Causative.. Broman 2011
 
 
SAA1 96 5 221 280 LC480 Variant screening of the serum amyloid A1 gene and functional study of the.. Leow 2013
 
 
SCARB2 376 LS The Role of SCARB2 as Susceptibility Factor in Parkinson’s Disease Hopfner 2013
 
 
SCARB2 103 Novel SCARB2 mutation in Action Myoclonus- Renal Failure syndrome and.. Hopfner 2011
 
 
SCL25A13 20 22 200 382 LC480 Diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency.. Chen 2012
 
 
SCN1A 49 RG Polymorphisms of the SCN1A gene in children and adolescents with primary.. Toldo 2011
 
 
SCN1A 1 RL LC480 A case of SUDEP in a patient with Dravet syndrome with SCN1A mutation Le Gal 2010
 
 
SCN2A 328 36 220 909 LC480 Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome Nakamura 2013
 
 
SCN5A 40 37 152 394 2.5 µM S9 RG 100 86 0 Rapid, sensitive and inexpensive detection of SCN5A genetic variations by.. Millat 2009
 
 
SCN5A 40 37 152 394 RL RG 100 86 0 Rapid, sensitive and inexpensive detection of SCN5A genetic variations by.. Millat 2009
 
 
SCN5A 10 LS Whole-genome amplified DNA from stored dried blood spots is reliable in.. Winkel 2011
 
 
SERPINE2 897 5 184 373 LCG+ LS 96.6 226 90.6 287 50.8 61 High-resolution melting curve analysis of genomic and whole-genome.. Cho 2008
 
 
SERPINE2 897 5 184 373 LCG+ LS 98.2 274 98.6 289 50.8 61 High-resolution melting curve analysis of genomic and whole-genome.. Cho 2008
 
 
SF3B1 92 3 51 119 LCG+ LS Development of a High-Resolution Melting Analysis for the Detection of the.. Yang 2013
 
 
SFTPB 897 2 164 269 LCG+ LS 98.2 274 98.6 289 50.8 61 High-resolution melting curve analysis of genomic and whole-genome.. Cho 2008
 
 
SHOX 12 57 332 LCG+ HR-96 Clinical and molecular characterization of Chilean patients with.. Rodríguez 2013
 
 
SIM1 561 14 LC480 Mutation screen of the SIM1 gene in pediatric patients with early-onset.. Zegers 2014
 
 
SIX1 50 EG RG SIX1 gene: absence of mutations in children with isolated congenital.. Negrisolo 2014
 
 
SLC1A2 1099 18 LC480 Association of rare variation in the glutamate receptor gene SLC1A2 with.. Fiorentino 2015
 
 
SLC22A5 21 13 119 312 LCG1 HR-1 100 15 30 10 Validation of dye-binding/high-resolution thermal denaturation for the.. Dobrowolski 2005
 
 
SLC22A5 324 LCG+ HR-1 Cardiomyopathy and carnitine deficiency Amat di San Filippo 2008
 
 
SLC25A13 3 1 RL LC480 100 3 100 3 Clinical investigation and mutation analysis of a child with citrin.. Wen 2013
 
 
SLC25A13 105 5 LCG+ HR-1 High resolution melting analysis for the detection of SLC25A13 gene.. Lin 2011
 
 
SLC25A13 2428 2 EG CFX96 Screening for Five Prevalent Mutations of SLC25A13 Gene in Guangdong,.. Zhang 2014
 
 
SLC25A13 and SLC25A15 147 LCG+ LS Genetic Variation in the Urea Cycle: A Model Resource for Investigating.. Mitchell 2009
 
 
SLC26A4 128 LC480 Screening of SLC26A4 gene in autoimmune thyroid diseases Kallel 2013
 
 
SLC26A4 128 LC480 Screening of SLC26A4 gene in autoimmune thyroid diseases Kallel 2013
 
 
SLC26A4 87 28 87 226 S9 Mutation Analysis of SLC26A4 for Pendred Syndrome and Nonsyndromic Hearing.. Chen 2011
 
 
SLC26A4 44 EG RG Identification of SLC26A4 Mutations in Patients with Hearing Loss and.. Mercer 2011
 
 
SLC33A1 220 10 206 298 RL LC480 A total of 220 patients with autosomal dominant spastic paraplegia do not.. Schlipf 2010
 
 
SLC4A1 34 1 210 210 RL LC480 0 Rapid detection of solute carrier family 4, member 1 (SLC4A1) Netuwakul 2009
 
 
SLC4A1 16 1 318 318 RL LC480 0 Rapid detection of solute carrier family 4, member 1 (SLC4A1) Netuwakul 2009
 
 
SLC4A1 34 1 172 172 RL LC480 0 Rapid detection of solute carrier family 4, member 1 (SLC4A1) Netuwakul 2009
 
 
SLC4A1 34 1 224 224 RL LC480 0 Rapid detection of solute carrier family 4, member 1 (SLC4A1) Netuwakul 2009
 
 
SLC4A1 34 1 122 122 RL LC480 0 Rapid detection of solute carrier family 4, member 1 (SLC4A1) Netuwakul 2009
 
 
SLC4A1 34 1 116 116 RL LC480 0 Rapid detection of solute carrier family 4, member 1 (SLC4A1) Netuwakul 2009
 
 
SLC4A1 34 1 114 114 RL LC480 0 Rapid detection of solute carrier family 4, member 1 (SLC4A1) Netuwakul 2009
 
 
SLC4A1 34 1 175 175 RL LC480 0 Rapid detection of solute carrier family 4, member 1 (SLC4A1) Netuwakul 2009
 
 
SLC4A1 34 1 235 235 RL LC480 0 Rapid detection of solute carrier family 4, member 1 (SLC4A1) Netuwakul 2009
 
 
SLC4A1 16 18 114 491 RL LC480 II Rapid detection of solute carrier family 4, member 1 (SLC4A1) mutations.. Nettuwakul 2010
 
 
SMARCB1, SMARCA4, or ARID1B 49 Coffin–Siris syndrome is a SWI/SNF complex disorder Tsurusaki 2013
 
 
SMN1 30 1 100 100 LCG+ LC480 High-resolution melting (HRM) analysis as a feasible method for detecting.. Er 2012
 
 
SMN1 43 3 183 241 RL LC480 Diagnosis of Spinal Muscular Atrophy Via High-Resolution Melting Analysis.. Morikawa 2011
 
 
SMN1 and SMN2 3 1 52 52 LCG+ LS Newborn Screening for Spinal Muscular Atrophy by Calibrated Short-Amplicon.. Dobrowolski 2012
 
 
SNCA 28 5 97 209 LCG+ LS 99 139 Somatic Alpha-Synuclein Mutations in Parkinson’s Disease: Hypothesis and.. Proukakis 2013
 
 
SNCA 511 5 97 209 Analysis of Parkinson’s Disease Brain–Derived DNA for Alpha- Synuclein.. Proukakis 2014
 
 
SOD1 134 17 195 488 EG ABI 7500 Rare Single Nucleotide Polymorphisms in the Regulatory Regions of the.. Kovac 2013
 
 
SOD1 184 LCG+ High-ResolutionMelting (HRM) Analysis of the Cu/Zn Superoxide Dismutase.. Akimoto 2011
 
 
SOD1 and TARDBP 61 Clinical heterogeneity in Italian patients with amyotrophic lateral.. Piaceri 2012
 
 
SPATA7 141 4 270 409 LCG+ LS Screening of SPATA7 in Patients with Leber Congenital Amaurosis and Severe.. Mackay 2011
 
 
SRSF2 108 1 48 48 LCG+ ABI 7300 Detection of SRSF2-P95 Mutation by High- Resolution Melting Curve Analysis.. Lin 2014
 
 
STAT3 96 LCG+ LS Rapid Molecular Analysis of the STAT3 Gene in Job Syndrome of Hyper-IgE.. Kumanovics 2010
 
 
STK11 41 13 159 249 EG RG High Resolution Melting analysis as a rapid and efficient method of.. Borun 2013
 
 
STXBP1 1 1 RG Paternal mosaicism of an STXBP1 mutation in OS Saitsu 2011
 
 
SY254 and SY1191 13 2 76 79 EG RG Regulation of H2O2 stress-responsive genes through a novel transcription.. Pearson 2012
 
 
TAP63 112 8 <100 <100 LCG+ HR96 No TAP63 promoter mutation is detected in bladder exstrophy–epispadias.. Darling 2013
 
 
TGFB1 897 1 316 316 LCG+ LS 98.2 274 98.6 289 50.8 61 High-resolution melting curve analysis of genomic and whole-genome.. Cho 2008
 
 
THAP1 610 RL LC480 Prevalence of THAP1 Sequence Variants in German Patients with Primary.. Sohn 2010
 
 
THAP1 1210 LC480 Novel THAP1 sequence variants in primary dystonia Xiao 2010
 
 
TLR4, IL6, IL1 beta and IL12RB 109 4 105 241 EG RG Rapid multiplex high resolution melting method to analyze inflammatory.. Pereyra 2012
 
 
TMPRSS6 145 13 139 238 LCG+ LS Rapid, accurate detection of TMPRSS6 gene causative mutations with a.. Wu 2011
 
 
TOR1A 1014 2 205 314 RL LC480 High-throughput mutational analysis of TOR1A in primary dystonia Xiao 2009
 
 
TPMT 91 8 122 249 LCG+ LC480 High-resolution Melting Analysis of the TPMT Gene: A Study in the Polish.. Skrzypczak-Zielinska 2013
 
 
TRPC6 64 16 271 420 RL LC480 TRPC6 Gene Variants in Czech Adult Patients with Focal Segmental.. Obeidova 2012
 
 
TRPV1 103 3 S9 RG Association between single nucleotide polymorphisms of the transient.. Song 2012
 
 
TSC1 and TSC2 30 LCG+ LC480 High-Resolution Melting Analysis Is a More Effective Approach for.. Tsai 2011
 
 
TSHR 6 13 129 273 LC480 A Newly Discovered TSHR Variant (L665F) Associated With Nonautoimmune.. Jaeschke 2014
 
 
TTBK2 148 RL LC480 Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant.. Bauer 2010
 
 
TUBB4A 575 RL LC480 100 Pathogenic variants in TUBB4A are not found in primary dystonia Vemula 2014
 
 
UGT1A1 110 24 140 400 RL LC480 Comprehensive Analysis of UGT1A1 Polymorphisms through High-Resolution.. Tsai 2014
 
 
UL97 3 1 LCG+ HR-1 Genotyping cytomegalovirus UL97 mutations by high-resolution melting.. Zhao 2012
 
 
USH2A 15 1 EG RG Seven novel mutations in the long isoform of the USH2A gene in Chinese.. Xu 2011
 
 
USH2A, RDH12, TULP1, PDE6B, CERKL, CRB1, BBS1, C2orf71, ABCA4, CRB1 873 Contribution of Mutation Load to the Intrafamilial Genetic Heterogeneity.. Sanchez-Alcudia 2014
 
 
VKORC1 12 5 78 190 LCG+ LC 1.5 Spatial DNA Melting Analysis for Genotyping and Variant Scanning Crews 2009
 
 
VPS35 733 1 LCG+ LS VPS35 Mutation in Japanese Patients with Typical Parkinson’s Disease Ando 2012
 
 
VSX1 47 1 RL RG Screening the visual system homeobox 1 gene in keratoconus and posterior.. Vincent 2013
 
 
VWF 10 2 RL LC480 Molecular characterization, recombinant protein expression, and mRNA.. Solimando 2012
 
 
WNT10B 632 LCG+ LC480 Mutation analysis of WNT10B in obese children, adolescents and adults Van Camp 2013