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■ Abbreviation / Long Form : ADO / allele dropout

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Total Number of Papers: 96
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Abbreviation:   ADO  (>> Co-occurring Abbreviation)
Long Form:   allele dropout
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No. Year Title Co-occurring Abbreviation
2019 Clinical application of NGS-based SNP haplotyping for the preimplantation genetic diagnosis of primary open angle glaucoma. CNV, MALBAC, NGS, PGD, POAG, SNP, WGA
2019 Preimplantation Genetic Diagnosis of Neurodegenerative Diseases: Review of Methodologies and Report of Our Experience as a Regional Reference Laboratory. ARMS-qPCR, PGD
2019 The clinical application of single-sperm-based SNP haplotyping for PGD of osteogenesis imperfecta. NGS, OI, PGD, SNP
2018 Identification and characterization of TP53 gene Allele Dropout in Li-Fraumeni syndrome and Oral cancer cohorts. ICGC
2018 Incidence of amplification failure in DMPK allele due to allelic dropout event in a diagnostic laboratory. SBA, TP-PCR
2018 Performance comparison of two whole genome amplification techniques in frame of multifactor preimplantation genetic testing. aCGH, eSET, IVF-PGT, MDA, PCR, STR, WGA
2018 Preimplantation High-Resolution HLA Sequencing Using Next Generation Sequencing. NGS, SCT
2018 Systematic assessment of the performance of whole-genome amplification for SNP/CNV detection and beta-thalassemia genotyping. CNV, MALBAC, MDA, NGS, SNP
2018 The performance of MALBAC and MDA methods in the identification of concurrent mutations and aneuploidy screening to diagnose beta-thalassaemia disorders at the single- and multiple-cell levels. CNV, MALBAC, MDA, PGD/PGS, WGA
10  2017 Factors affecting genotyping success in giant panda fecal samples. DETs, EtOH, FA
11  2017 Methylated Cytosine Maintains G-Quadruplex Structures during Polymerase Chain Reaction and Contributes to Allelic Dropout. PCR
12  2017 The clinical application of NGS-based SNP haplotyping for PGD of Hb H disease. FET, HbH, MDA, NGS, PGD, SNP, TE, WGA
13  2016 Accuracy of Answers to Cell Lineage Questions Depends on Single-Cell Genomics Data Quality and Quantity. SC
14  2016 Development and validation of concurrent preimplantation genetic diagnosis for single gene disorders and comprehensive chromosomal aneuploidy screening without whole genome amplification. PGD, qPCR
15  2016 TruePrime is a novel method for whole-genome amplification from single cells based on TthPrimPol. CNV, MDA, Phi29DNApol, SNV, Tth
16  2015 Application of mixsep software package: Performance verification of male-mixed DNA analysis. ABI, STR
17  2015 Medium-based noninvasive preimplantation genetic diagnosis for human alpha-thalassemias-SEA. IVF, PCR, PGD, qPCR
18  2015 Single-Cell Genetic Analysis Using Automated Microfluidics to Resolve Somatic Mosaicism. WGA
19  2015 Single-tube nonaplex microsatellite PCR panel for preimplantation genetic diagnosis of Hb Bart's hydrops fetalis syndrome. PGD
20  2014 Evaluation of parameters in mixed male DNA profiles for the Identifiler multiplex system. APH, PA, PH, STR
21  2014 Validating a rapid, real-time, PCR-based direct mutation detection assay for preimplantation genetic diagnosis. ARMS-qPCR, FET, PGD, SGD
22  2013 Assessment of MDA efficiency for genotyping using cloned embryo biopsies. MDA
23  2013 Blastocyst biopsy and vitrification are effective for preimplantation genetic diagnosis of monogenic diseases. OHSS, OPU, PGD
24  2013 Preimplantation genetic diagnosis for Charcot-Marie-Tooth disease. CMT, PCR, PGD
25  2013 [Applying multiple displacement amplification to DNA typing in the pathological section]. MDA
26  2013 [Combination of multiple displacement amplification with short tandem repeat polymorphismin preimplantation genetic diagnosis]. MDA, PGD, STRs
27  2012 A short and simple improved-primer extension preamplification (I-PEP) procedure for whole genome amplification (WGA) of bovine cells. gDNA, I-PEP, MAS/GAS, PCR, PEP, PGD, QTL, WGA, wgaDNA
28  2012 Genotyping of beta-globin gene mutations in single lymphocytes: a preliminary study for preimplantation genetic diagnosis of monogenic disorders. PGD
29  2012 Microsatellite markers within the alpha-globin gene cluster for robust preimplantation genetic diagnosis of severe alpha-thalassemia syndromes in Mediterranean populations. PCR, PGD, STRs
30  2011 Novel and known microsatellite markers within the beta-globin cluster to support robust preimplantation genetic diagnosis of beta-thalassemia and sickle cell syndromes. PCR, PGD, STRs
31  2011 Pregnancy after rebiopsy and vitrification of blastocysts following allele dropout after day 3 biopsy. ---
32  2010 Allele drop-out in the MECP2 gene due to G-quadruplex and i-motif sequences when using polymerase chain reaction-based diagnosis for Rett syndrome. ---
33  2010 [Evaluation of the fidelity of multiple displacement amplification from small number of cells]. LOH, MDA, SNP
34  2009 Identification and prevention of genotyping errors caused by G-quadruplex- and i-motif-like sequences. SNPs
35  2009 Molecular comparison of single cell MDA products derived from different cell types. MDA
36  2009 Pregnancy after preimplantation genetic diagnosis for brachydactyly type B. BDB, PGD
37  2009 Preimplantation genetic diagnosis (PGD) for nonsyndromic deafness by polar body and blastomere biopsy. PB, PGD
38  2009 Single cell analysis of mutations in the APC gene. APC, SPATS
39  2009 Specific and complete human genome amplification with improved yield achieved by phi29 DNA polymerase and a novel primer at elevated temperature. DOP-PCR, gDNA, MDA, PEP, TIDA, WGA
40  2008 Birth after pre-implantation genetic diagnosis (PGD) of spinocerebellar ataxia 2 (Sca2). PGD, SCA2
41  2008 PGD of beta-thalassaemia and HLA haplotypes using OmniPlex whole genome amplification. HLA, PGD, STR
42  2008 Preimplantation genetic diagnosis for autosomal recessive polycystic kidney disease. ARPKD, PCR, PGD
43  2008 Preimplantation genetic diagnosis of Morquio disease. IVF, MDA, PGD
44  2007 Determination of the genetic status of cleavage-stage human embryos by microsatellite marker analysis following multiple displacement amplification. ---
45  2007 Simultaneous preimplantation genetic diagnosis for Tay-Sachs and Gaucher disease. GD, PGD, TS
46  2007 [The detection of mutations in VHL gene from a single cell in a patient with von Hippel-Lindau disease]. MDA, WGA
47  2006 Detection of spinal muscular atrophy carriers by nested polymerase chain reaction of single sperm cells. PCR, SMA
48  2006 Genetic characterisation of circulating fetal cells allows non-invasive prenatal diagnosis of cystic fibrosis. CF, CFCs, CFTR, CVS, PND, STR
49  2006 Live birth following the first mutation specific pre-implantation genetic diagnosis for haemophilia A. PGD
50  2006 Multiple displacement amplification improves PGD for fragile X syndrome. FXS, MDA
51  2006 Preimplantation genetic diagnosis for Marfan syndrome. PCRs, PGD
52  2006 Preimplantation genetic diagnosis of Marfan syndrome using multiple displacement amplification. MDA, PCR, PGD
53  2006 Successful preimplantation genetic diagnosis for alpha- and beta-thalassemia in China. PGD, RDB, SEA deletion
54  2005 Clinical application of multiple displacement amplification in preimplantation genetic diagnosis. MDA, PGD, STR
55  2005 Closely linked polymorphic marker: successful application in preimplantation genetic diagnosis for beta-thalassemia. PGD
56  2005 [Successful preimplantation genetic diagnosis for alpha-thalassemia using fluorescent polymerase chain reaction]. PCR, PGD
57  2004 Advances in preimplantation genetic diagnosis. CGH, PGD
58  2004 Duplex, triplex and quadruplex PCR for the preimplantation genetic diagnosis (PGD) of cystic fibrosis (CF), an exhaustive approach. CF, I1CA, PGD
59  2004 Multiple displacement amplification on single cell and possible PGD applications. FISH, MDA, STRs
60  2004 Preimplantation genetic diagnosis of spinocerebellar ataxia 3 by (CAG)(n) repeat detection. MJD, PGD, SCA3
61  2004 Real-time PCR for single-cell genotyping in sickle cell and thalassemia syndromes as a rapid, accurate, reliable, and widely applicable protocol for preimplantation genetic diagnosis. PGD
62  2003 Detailed investigation of factors influencing amplification efficiency and allele drop-out in single cell PCR: implications for preimplantation genetic diagnosis. PGD
63  2003 Preimplantation genetic diagnosis for achondroplasia: genetics and gynaecological limits and difficulties. ACH, PGD
64  2003 Preimplantation genetic diagnosis for Charcot-Marie-Tooth disease type 1A. CMT, PGD
65  2003 Rapid detection of the deltaF508 mutation in single cells using DHPLC: implications for preimplantation genetic diagnosis. DHPLC, PGD
66  2003 Single-cell sequencing and mini-sequencing for preimplantation genetic diagnosis. PGD
67  2003 [Sex determination of human preimplantation embryo using nested polymerase chain reaction]. PCR
68  2002 Diagnosis of trisomy 21 in preimplantation embryos by single-cell DNA fingerprinting. Ch 21, FL-PCR, PGD
69  2002 DNA fingerprinting of sister blastomeres from human IVF embryos. FL, PA
70  2002 First application of preimplantation genetic diagnosis to neurofibromatosis type 2 (NF2). NF2, PGD, SNP, SSCP
71  2002 Multiplex PCR combining deltaF508 mutation and intragenic microsatellites of the CFTR gene for pre-implantation genetic diagnosis (PGD) of cystic fibrosis. CF, PGD
72  2002 Multiplex sequence variation detection throughout the CFTR gene appropriate for preimplantation genetic diagnosis in populations with heterogeneity of cystic fibrosis mutations. CF, PGD
73  2002 Polar body-based preimplantation diagnosis for X-linked disorders. MTMD, OTC, PCR, PGD
74  2002 Preimplantation genetic diagnosis for beta-thalassaemia using sequencing of single cell PCR products to detect mutations and polymorphic loci. PGD
75  2002 Preimplantation genetic diagnosis for single gene disorders: experience with five single gene disorders. CF, DM, F-PCR, NF2, PGD, SSCP
76  2001 A comparison of different lysis buffers to assess allele dropout from single cells for preimplantation genetic diagnosis. ALB, PCR, PGD, PK
77  2001 Preimplantation genetic diagnosis for familial amyloidotic polyneuropathy (FAP). FAP, FAP type I, MII, PGD, TTR
78  2001 Preimplantation genetic diagnosis for sickle-cell anemia and for beta-thalassemia. ICSI, PCR, PGD
79  2001 Preimplantation genetic diagnosis of the fragile X syndrome by use of linked polymorphic markers. PGD
80  2001 Preimplantation genetic diagnostic protocols for alpha- and beta-thalassaemias using multiplex fluorescent PCR. DGGE, F-PCR, PGD, PND, RFLP, SSCP
81  2001 Reliability of preimplantation diagnosis for single gene disorders. PGD
82  2001 Results on single cell PCR for Huntington's gene and WAVE product analysis for preimplantation genetic diagnosis. PCR, PGD
83  2000 Multiplex PCR of polymorphic markers flanking the CFTR gene; a general approach for preimplantation genetic diagnosis of cystic fibrosis. CF, CFTR, PCR, PGD
84  2000 Simultaneous single-cell detection of two mutations for cystic fibrosis. CF, PCR
85  2000 Two pregnancies after preimplantation genetic diagnosis for osteogenesis imperfecta type I and type IV. ALF, EBV, ICSI, OI, PCR, PGD
86  1999 A widely applicable strategy for single cell genotyping of beta-thalassaemia mutations using DGGE analysis: application to preimplantation genetic diagnosis. PCR, PGD
87  1999 Preimplantation genetic diagnosis in 10 couples at risk for transmitting beta-thalassaemia major: clinical experience including the initiation of six singleton pregnancies. DGGE, PCR, PGD
88  1998 Allele drop-out can occur in alleles differing by a single nucleotide and is not alleviated by preamplification or minor template increments. PEP
89  1998 Allele dropout in polar bodies and blastomeres. CF
90  1998 Assessment of diagnostic quantitative fluorescent multiplex polymerase chain reaction assays performed on single cells. PCR, QF-PCR, STR
91  1998 Assessment of the reliability of single blastomere analysis for preimplantation diagnosis of the delta F508 deletion causing cystic fibrosis in clinical practice. CF, PCR, PGD
92  1998 Highly accurate analysis of heterozygous loci bysingle cell PCR. ---
93  1998 Pregnancy after preimplantation genetic diagnosis for Charcot-Marie-Tooth disease type 1A. ALF, CMT, ICSI, PCR, PGD
94  1998 Preimplantation diagnosis of thalassemias. PBs, PGD
95  1998 Strategies for preimplantation genetic diagnosis of single gene disorders by DNA amplification. PGD, WGA
96  1996 Increasing the denaturation temperature during the first cycles of amplification reduces allele dropout from single cells for preimplantation genetic diagnosis. CF, PCR, PGD