Pitfalls in the detection of gross gene rearrangements using MLPA in Fabry disease
Keywords: MLPA; QFM-PCR; Gene rearrangement; Allele dosage; De novo mutation; Deletion breakpoint;
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The use of two different MLPA kits in 22q11.2 deletion syndrome
Keywords: 22q11 deletion syndrome; Cognitive deterioration; Intelligence; Psychopathology; MLPA; Deletion size
Viral prevalence increases with regional colony abundance in honey bee drones (Apis mellifera L)
Keywords: DWV; Male; MLPA; Virus; DCA; Honey bee;
Development and validation of molecular methodologies to assess PALB2 expression in sporadic breast cancer
Keywords: CISH; Chromogenic in situ hybridization; Cq; Quantification cycle; CV; Coefficient of variation; FFPE; formalin-fixed paraffin embedded tissue in blocks; HR; homologous recombination; IHC; Immunohistochemistry; LOD; limit of detection; MLPA; Multiplex Lig
Combined IKZF1 and IG markers as new tools for diagnosis and minimal residual disease assessment in Tunisian B-ALL
Keywords: IGH/IGK-Kde rearrangements; IKZF1 deletion; B-ALL; MRD; RQ-PCR; MLPA; Réarrangements IGH/IGK-Kde; Délétion IKZF1; LAL-B; MRD; RQ-PCR; MLPA;
Familial C3 glomerulonephritis caused by a novel CFHR5-CFHR2 fusion gene
Keywords: C3G; C3 glomerulopathy; C3GN; C3 glomerulonephritis; C3Nefs; C3 nephritic factors; DDD; dense deposit disease; EM; electron microscopy; FHR; complement factor H-related proteins; GBM; glomerular basement membrane; IF; immunofluorescence; MLPA; multiplex l
MLPA analysis of an Argentine cohort of patients with dystrophinopathy: Association of intron breakpoints hot spots with STR abundance in DMD gene
Keywords: BMD; Becker Muscular Dystrophy; CVS; Chorionic Villus Sample; DMD; Duchenne Muscular Dystrophy; MLPA; Multiplex Ligation-dependent Probe Amplification; PCR; Polymerase Chain Reaction; STR; Short Tandem-Repeat; XLDC; X-linked Dilated Cardiomiopathy; Dystro
Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients
Keywords: AAA; ATP-ase associated with diverse activities; AD; autosomal dominant; ER; endoplasmic reticulum; HSP; hereditary spastic paraplegia; MIT; microtubule interacting and trafficking domain; MLPA; multiplex ligation-dependent probe amplification; MSA; multi
Exon dosage analysis of parkin gene in Chinese sporadic Parkinson's disease
Keywords: Parkinson's disease; Parkin gene; MLPA; Exon rearrangement; Gene mutation;
Two novel NIPBL gene mutations in Chinese patients with Cornelia de Lange syndrome
Keywords: CdLS; Cornelia de Lange syndrome; NIPBL; Nipped-B-like; PCR; polymerase chain reaction; MLPA; Multiplex Ligation-dependent Probe Amplification; Cornelia de Lange syndrome; NIPBL; Frameshift mutation; Missense mutation;
Arcobacter ebronensis sp. nov. and Arcobacter aquimarinus sp. nov., two new species isolated from marine environment
Keywords: Arcobacter; A. ebronensis; A. aquimarinus; MLPA; 16S rRNA; MALDI-TOF
Concordant B-cell precursor acute lymphoblastic leukemia in non-twinned siblings
Keywords: ALL; acute lymphoblastic leukemia; BCP-ALL; B-cell precursor acute lymphoblastic leukemia; BFM; Berlin-Frankfurt-Münster; BM; bone marrow; CNS-f; central nervous system fluids; EGIL; European group for the immunological characterization of leukemias;
Improved Multiplex Ligation-dependent Probe Amplification (i-MLPA) for rapid copy number variant (CNV) detection
Keywords: MLPA; CNV detection; DGV;
Alteration of major vault protein in human glioblastoma and its relation with EGFR and PTEN status
Keywords: EGFR; epidermal growth factor receptor; EGFRvIII; EGFR variant III mutation; FISH; fluorescent in situ hybridization; GBM; glioblastoma; GFAP; glial fibrillary acidic protein; HPFs; high-power fields; KPS; Karnofsky performance status; MLPA; multiplex lig
Frequency of copy number abnormalities in common genes associated with B-cell precursor acute lymphoblastic leukemia cytogenetic subtypes in Brazilian children
Keywords: Acute lymphoblastic leukemia; IKZF1; MLPA; multiplex ligation-dependent probe amplification; copy number alterations
Validation of ambiguous MLPA results by targeted next-generation sequencing discloses a nonsense mutation in the DMD gene
Keywords: DMD; Duchenne muscular dystrophy; MLPA; Multiplex ligation-dependent probe amplification; IDP; a Ready-to-Use AmpliSeq⢠Inherited Disease Panel; PGM; Ion Torrent Personal Genome Machineâ¢; RPR; relative peak ratio; NGS; next-generation sequencing; Duch
Use of in silico tools for classification of novel missense mutations identified in dystrophin gene in developing countries
Keywords: DMD; Duchenne muscular dystrophy; BMD; Becker muscular dystrophy; MLPA; Multiplex Ligation-dependent Probe Amplification; SIFT; Sorting Intolerant From Tolerant; PolyPhen; Polymorphism Phenotyping; Panther; Protein ANalysis THrough Evolutionary Relationsh
LGI1 microdeletions are not a frequent cause of partial epilepsy with auditory features (PEAF)
Keywords: PEAF; LTE; LGI1; Microdeletions; MLPA; Genetic heterogeneity;
Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II
Keywords: OCA; Oculocutaneous Albinism; OA; Ocular Albinism; ENT; Ears, Nose and Throat; OCT; Optical Coherence Tomography; VEP; Visual Evoked Potential; ERG; Electroretinogram; PCR; Polymerase Chain Reaction; MLPA; Multiplex Ligation-dependent Probe Amplification;
An MLPA-based approach for high-resolution genotyping of disease-related multi-allelic CNVs
Keywords: CN; copy number; CNP; copy number polymorphism; CNV; copy number variant; CV; coefficient of variation; MAPH; multiplex amplifiable probe hybridization; MLPA; multiplex ligation-dependent probe amplification; PRT; paralog ratio test; QC; quality control;
Homozygous deletion of six genes including corneodesmosin on chromosome 6p21.3 is associated with generalized peeling skin disease
Keywords: CDSN; Gene deletion; MLPA; Peeling skin syndrome; qPCR
Intratumoral heterogeneous amplification of ERBB2 and subclonal genetic diversity in gastric cancers revealed by multiple ligation-dependent probe amplification and fluorescence in situ hybridization
Keywords: ERBB2; HER2; Gene amplification; Gastric cancer; FISH; MLPA
Development of MLPA for human ACAT1 gene and identification of a heterozygous Alu-mediated deletion of exons 3 and 4 in a patient with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency
Keywords: Mitochondrial acetoacetyl-CoA thiolase; T2; Deletion; Alu elements; Recombination; MLPA;
Identification of the first deletion-insertion involving the complete structure of GAA gene and part of CCDC40 gene mediated by an Alu element
Keywords: MLPA; Multiplex ligation-dependent probe amplification; Array CGH; array-comparative genomic hybridization; PCR; polimerase chain reaction; GAA; glucosidase, alpha, acid; CCDC40; coiled-coil domain containing 40; CDH4; cadherin-4; Kbp; kilobase pairs; GAA
Short CommunicationChromosome 22q11.2 deletion syndrome: prenatal diagnosis, array comparative genomic hybridization characterization using uncultured amniocytes and literature review
Keywords: aCGH; array comparative genomic hybridization; OMIM; Online Mendelian Inheritance in Man; DGS; DiGeorge syndrome; VCFS; velocardiofacial syndrome; del; deletion; MLPA; multiplex ligation-dependent probe amplification; VSD; ventricular septal defect; FISH;
Short CommunicationInv21p12q22del21q22 and intellectual disability
Keywords: Array CGH; array comparative genomic hybridization; CNVs; copy number variants; DS; Down syndrome; FISH; fluorescence in situ hybridization; ID; intellectual disability; MLPA; multiplex-ligation probe amplification; OMIM; Online Mendelian Inheritance in M
Characterization of a recurrent 3.8 kb deletion involving exons 17a and 17b within the CFTR gene
Keywords: CFTR; Rearrangement; MLPA; Carrier screening;
Evaluation of a polymerase chain reaction-electrospray ionization time-of-flight mass spectrometry for the detection and subtyping of influenza viruses in respiratory specimens
Keywords: Influenza; Mass spectrometry; Respiratory viruses; Multiplex PCR; Direct diagnosis; PCR-ESI-TOF-MS; PCR-electro-spray ionization time-of-flight mass spectrometry; RT-PCR; reverse-transcription PCR; MLPA; multiplex ligation-dependent probe amplification;
Distribution of CFTR mutations in the Czech population: Positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations
Keywords: AT; Austrian/Austria; CE; Central Europe; CF; Cystic Fibrosis; CZ; Czech Republic/Czech; CFTR; cystic fibrosis transmembrane conductance regulator gene; DE; German/Germany; HU; Hungarian/Hungary; MLPA; multiplex ligation-dependent probe amplification; NBS
Identification of a novel CCM2 gene mutation in an Italian family with multiple cerebral cavernous malformations and epilepsy: A causative mutation?
Keywords: CCM; cerebral cavernous malformation; KRIT1; K-Rev interaction trapped 1; PDCD10; Programmed Cell Death 10; NMD; Nonsense-mediated decay; MRI; Magnetic Resonance Imaging; MLPA; Multiplex ligation-dependent probe amplification; PCR; Polymerase chain reacti
Identification and molecular cytogenetic characterization of a novel complex Y chromosome rearrangement in a boy with disorder of sexual development
Keywords: DSD; Disorders of sexual development; GTG banding; G-banding using Trypsin and Giemsa; NOR; Nuclear organizing regions; FISH; Fluorescence in situ hybridization; WCP; Whole chromosome paint; STR; Short tandem repeats; BAC; Bacterial artificial chromosome;
Phenylalanine hydroxylase deficiency in the Slovak population: Genotype-phenotype correlations and genotype-based predictions of BH4-responsiveness
Keywords: BH4; tetrahydrobiopterin (6RL-erythro-5,6,7,8-tetrahydrobiopterin); Bp; base pairs; BIOPKUdb; International Database of Patients and Genotypes Causing HPA/PKU including BH4-responsive Phenotype; Conc.; concentration; cPKU; classic phenylketonuria; dNTP; d
Partial trisomy 7q and monosomy 13q in a child with disorder of sex development: Phenotypic and genotypic findings
Keywords: Array CGH; array comparative genomic hybridization; aCGH; array comparative genomic hybridization; GTG; G banding produced by trypsin and Giemsa; MLPA; multiplex ligation-dependent probe amplification; BMI; body mass index; DMSA; dimercaptosuccinic acid;
20 novel point mutations and one large deletion in EXT1 and EXT2 genes: Report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis
Keywords: HME; hereditary multiple exostosis; EXT1; exostosin 1; EXT2; exostosin 2; EXT3; exostosin 3; MLPA; multiple ligation probes dependent amplification; MO; multiple osteochondrosarcomas; PCR; polymerase chain reaction; Array GH; array genomic hybridization;
Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotype
Keywords: CdLS; NIPBL deletion; Mosaicism; MLPA; FISH; Array-CGH; Deletion junction
Integrated multiplex ligation dependent probe amplification (MLPA) assays for the detection of alterations in the HEXB, GM2A and SMARCAL1 genes to support the diagnosis of Morbus Sandhoff, M. Tay-Sachs variant AB and Schimke immuno-osseous dysplasia in hu
Keywords: MLPA; HEXB; GM2A; SMARCAL1; Deletion; Insertion
Prenatal diagnosis of single gene disorders
Keywords: fetal DNA; inborn errors; MLPA; molecular; non-invasive; prenatal diagnosis; sequencing; single gene
Arcobacter cloacae sp. nov. and Arcobacter suis sp. nov., two new species isolated from food and sewage
Keywords: Arcobacter; Food; Sewage; MLPA; gyrA-atpA-rpoB-gyrB-hsp60; MALDI-TOF
Combined use of multiplex ligation-dependent probe amplification and automatic sequencing for identification of KAL1 defects in patients with Kallmann syndrome
Keywords: Kallmann syndrome; KAL1 abnormalities; MLPA; KALP spurious amplification
Rapid method for targeted prenatal diagnosis of Duchenne muscular dystrophy in Vietnam
Keywords: Duchenne muscular dystrophy; MLPA; prenatal diagnosis; STR analysis
Contribution of MLPA to routine diagnostic testing of recurrent genomic aberrations in chronic lymphocytic leukemia
Keywords: CLL; recurrent genomic aberrations; interphase FISH; MLPA
Low-Level Amplification of Oncogenes Correlates Inversely with Age for Patients with Nontypical Meningiomas
Keywords: Atypical meningioma; Copy number; Copy number gains; Gene amplification; Meningioma; Multiplex ligation-dependent probe amplification; Oncogene; CE; Capillary electrophoresis; CGH; Comparative genomic hybridization; CN; Copy number; FFPE; Formalin-fixed p
Cytogenomic characterization of an unexpected 17.6 Mb 9p deletion associated to a 14.8 Mb 20p duplication in a dysmorphic patient with multiple congenital anomalies presenting a normal G-banding karyotype
Keywords: MLPA; multiplex-ligation probe amplification; FISH; Fluorescence in situ hybridization; OFC; Occipital-frontal circumference; MRI; Magnetic resonance imaging; DECIPHER; Database of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources; O
Congenital variant of Rett syndrome due to an intragenic large deletion in MECP2
Keywords: Rett syndrome; Congenital variant; MECP2; Deletion; MLPA
Reverse-hybridization assay for rapid detection of common CYP21A2 mutations in dried blood spots from newborns with elevated 17-OH progesterone
Keywords: CAH; congenital adrenal hyperplasia; CYP21A2; cytochrome P450, family 21, subfamily A, polypeptide 2; 17-OHP; 17-hydroxyprogesterone; MLPA; multiplex ligation-dependent probe amplification; SW; salt-wasting; SV; simple virilizing; NC; nonclassic; fs; fram
Molecular characterization of a large MYBPC3 rearrangement in a cohort of 100 unrelated patients with hypertrophic cardiomyopathy
Keywords: Hypertrophic cardiomyopathy; MYBPC3; Gene rearrangement; Molecular diagnosis; MLPA;
A homemade MLPA assay detects known CTNS mutations and identifies a novel deletion in a previously unresolved cystinosis family
Keywords: bp; basepairs; CTNS; cystinosin; kb; kilobases or 1000Â bp; MLPA; multiplex ligation-dependent probe amplification; PCR; polymerase chain reaction; RS-values; relative signal values; UTR; untranslated region; Copy number; CTNS; Cystinosis; Deletion; MLPA;
MLPA is a powerful tool for detecting lymphoblastic transformation in chronic myeloid leukemia and revealing the clonal origin of relapse in pediatric acute lymphoblastic leukemia
Keywords: MLPA; chronic myeloid leukemia; acute lymphoblastic leukemia; relapse; clonal origin
Molecular investigations of mitochondrial deletions: Evaluating the usefulness of different genetic tests
Keywords: MELAS; mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes; MLPA; multiplex ligation-dependent probe amplification; MNGIE; mitochondrial neurogastrointestinal encephalopathy; RRF; ragged red fibers; mtDNA deletions; MLPA; Mito
Copy number status and mutation analyses of anaplastic lymphoma kinase (ALK) gene in 90 sporadic neuroblastoma tumors
Keywords: Neuroblastoma; ALK; 2p24.1 locus; MLPA