Use of the MLPA Assay in the Molecular Diagnosis of Gene Copy Number Alterations in Human Genetic Diseases

Comparison of Different Promoter Methylation Assays in Breast Cancer

(2015) Karijn P. M. Suijkerbuijk et al.   Analytical Cellular Pathology

Array-based MLPA to detect recurrent copy number variations in patients with idiopathic mental retardation

(2011) Liesbeth Rooms et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

MLPAstats: An R GUI package for the integrated analysis of copy number alterations using MLPA data

(2011) Alejandro Cáceres et al.   BMC BIOINFORMATICS

Rapid screening for chromosomal aneuploidies using array-MLPA

(2011) Jing-Bin Yan et al.   BMC Medical Genetics

Methylation profiling of rectal cancer identifies novel markers of early-stage disease

(2011) K. J. Leong et al.   BRITISH JOURNAL OF SURGERY

Detection of deletions and/or amplifications of genes related with lung cancer by multiplex ligation-dependent probe amplification (MLPA) technique

(2011) Emre Tepeli et al.   CANCER BIOLOGY & THERAPY

MGMT promoter gene methylation in pediatric glioblastoma: analysis using MS-MLPA

(2011) Ji Yeoun Lee et al.   CHILDS NERVOUS SYSTEM

Charcot-Marie-Tooth caused by a copy number variation in myelin protein zero

(2011) Helle Høyer et al.   European Journal of Medical Genetics

Evaluation of the Methylation Status of Tumour Suppressor Genes for Predicting Bacillus Calmette-Guérin Response in Patients With T1G3 High-Risk Bladder Tumours

(2011) Miriam Agundez et al.   EUROPEAN UROLOGY

Multiplex ligation-dependent probe amplification and fluorescence in situ hybridization to detect chromosomal abnormalities in Chronic lymphocytic leukemia: A comparative study

(2011) Sonia Fabris et al.   GENES CHROMOSOMES & CANCER

Multiplexed Methylation Profiles of Tumor Suppressor Genes in Bladder Cancer

(2011) Maria José Cabello et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Development and Clinical Implementation of a Combination Deletion PCR and Multiplex Ligation-Dependent Probe Amplification Assay for Detecting Deletions Involving the Human α-Globin Gene Cluster

(2011) Benjamin R. Kipp et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Frequent promoter hypermethylation of BRCA2, CDH13, MSH6, PAX5, PAX6 and WT1 in ductal carcinoma in situ and invasive breast cancer

(2011) Cathy B Moelans et al.   JOURNAL OF PATHOLOGY

Multiplex ligation-dependent probe amplification for detection of chromosomal abnormalities in myelodysplastic syndrome and acute myeloid leukemia

(2011) Amber C. Donahue et al.   LEUKEMIA RESEARCH

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(2011) Walter Pavicic et al.   MOLECULAR MEDICINE

Carrier Screening for Spinal Muscular Atrophy (SMA) in 107,611 Pregnant Women during the Period 2005–2009: A Prospective Population-Based Cohort Study

(2011) Yi-Ning Su et al.   PLoS One

Copy Number Variation in Familial Parkinson Disease

(2011) Nathan Pankratz et al.   PLoS One

Partial Deletion of the NR5A1 (SF1) Gene Detected by Synthetic Probe MLPA in a Patient with XY Gonadal Disorder of Sex Development

(2011) M. Barbaro et al.   Sexual Development

Delineating an Epigenetic Continuum for Initiation, Transformation and Progression to Breast Cancer

(2011) Kang Mei Chen et al.   Cancers

DNA Methylation in Thyroid Tumorigenesis

(2011) Josena K. Stephen et al.   Cancers

The impact of human copy number variation on a new era of genetic testing

(2010) KW Choy et al.   BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY

Application of MLPA assay to characterize unsolved α-globin gene rearrangements

(2010) Alessia Colosimo et al.   BLOOD CELLS MOLECULES AND DISEASES

Epigenetic regulation of CD44in Hodgkin and non-Hodgkin lymphoma

(2010) Sonja Eberth et al.   BMC CANCER

Absence of the MGMT protein as well as methylation of the MGMT promoter predict the sensitivity for temozolomide

(2010) K A van Nifterik et al.   BRITISH JOURNAL OF CANCER

Genotypic Profiling of 452 Choroidal Melanomas with Multiplex Ligation-Dependent Probe Amplification

(2010) B. Damato et al.   CLINICAL CANCER RESEARCH

Simultaneous Detection of Trisomies 13, 18, and 21 with Multiplex Ligation-Dependent Probe Amplification-Based Real-Time PCR

(2010) Q. Guo et al.   CLINICAL CHEMISTRY

Loss of expression of TIMP3 in clear cell renal cell carcinoma

(2010) Damien Masson et al.   EUROPEAN JOURNAL OF CANCER

Usefulness of MLPA in the detection of SHOX deletions

(2010) Mariana F.A. Funari et al.   European Journal of Medical Genetics

Evaluation of multiplex ligation-dependent probe amplification as a method for the detection of copy number abnormalities in B-cell precursor acute lymphoblastic leukemia

(2010) C. J. Schwab et al.   GENES CHROMOSOMES & CANCER

Clinical and Molecular Evaluation ofSHOX/PAR1 Duplications in Léri-Weill Dyschondrosteosis (LWD) and Idiopathic Short Stature (ISS)

(2010) S. Benito-Sanz et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Multiplex Ligation-Dependent Probe Amplification Versus Multiprobe Fluorescence in Situ Hybridization To Detect Genomic Aberrations in Chronic Lymphocytic Leukemia

(2010) Eiman A. Al Zaabi et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Analysis of DNA copy number aberrations by multiple ligation-dependent probe amplification on 50 intestinal type gastric cancers

(2010) Dai Zhang et al.   JOURNAL OF SURGICAL ONCOLOGY

Multiplexed methylation profiles of tumor suppressor genes and clinical outcome in lung cancer

(2010) Mónica Castro et al.   Journal of Translational Medicine

Determination ofSMN1andSMN2Copy Numbers in a Korean Population using Multiplex Ligation-dependent Probe Amplification

(2010) Seoyoung Yoon et al.   Korean Journal of Laboratory Medicine

Aberrant methylation of tumor suppressor genes in patients with refractory anemia with ring sideroblasts

(2010) Ana Valencia et al.   LEUKEMIA RESEARCH

Quick MLPA test for quantification of SMN1 and SMN2 copy numbers

(2010) Nadia Passon et al.   MOLECULAR AND CELLULAR PROBES

Simultaneous analysis of the methylation profile of 26 cancer related regions in invasive breast carcinomas by MS-MLPA and drMS-MLPA

(2010) Diego M. Marzese et al.   MOLECULAR AND CELLULAR PROBES

Insights into genotype-phenotype correlations in spinal muscular atrophy: A retrospective study of 103 patients

(2010) Florence Petit et al.   MUSCLE & NERVE

Usefulness of MS-MLPA for detection of MGMT promoter methylation in the evaluation of pseudoprogression in glioblastoma patients

(2010) C.-K. Park et al.   NEURO-ONCOLOGY

Detection, Analysis and Clinical Validation of Chromosomal Aberrations by Multiplex Ligation-Dependent Probe Amplification in Chronic Leukemia

(2010) Adam Abdool et al.   PLoS One

A population-based study of genotypic and phenotypic variability in children with spinal muscular atrophy

(2009) Eva Arkblad et al.   ACTA PAEDIATRICA

Cryptic intragenic deletion of the SHOX gene in a family with Léri-Weill dyschondrosteosis detected by Multiplex Ligation-Dependent Probe Amplification (MLPA)

(2009) Mariana F. A. Funari et al.   Arquivos Brasileiros de Endocrinologia e Metabologia

HER-2/neu amplification testing in breast cancer by Multiplex Ligation-dependent Probe Amplification: influence of manual- and laser microdissection

(2009) Cathy B Moelans et al.   BMC CANCER

Allelic status of 1p and 19q in oligodendrogliomas and glioblastomas: multiplex ligation-dependent probe amplification versus loss of heterozygosity

(2009) Carmen Franco-Hernández et al.   CANCER GENETICS AND CYTOGENETICS

Identification of chromosomal abnormalities relevant to prognosis in chronic lymphocytic leukemia using multiplex ligation-dependent probe amplification

(2009) Marian Stevens-Kroef et al.   CANCER GENETICS AND CYTOGENETICS

Methylation Profiles in Breast Cancer

(2009) Nur Buyru et al.   CANCER INVESTIGATION

MS-MLPA Reveals Progressive Age-Dependent Promoter Methylation of Tumor Suppressor Genes and Possible Role ofIGSF4Gene in Colorectal Carcinogenesis of Microsatellite Instable Tumors

(2009) Gašper Berginc et al.   CANCER INVESTIGATION

Copy number variation upstream of PMP22 in Charcot–Marie–Tooth disease

(2009) Marian AJ Weterman et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Characteristics of Dystrophin Gene Mutations Among Chinese Patients as Revealed by Multiplex Ligation–Dependent Probe Amplification

(2009) Qian Wang et al.   Genetic Testing and Molecular Biomarkers

Effectiveness of the Combined Recombinant Human Growth Hormone and Gonadotropin-Releasing Hormone Analog Therapy in Pubertal Patients with Short Stature due toSHOXDeficiency

(2009) Renata C. Scalco et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain

(2009) J Chen et al.   JOURNAL OF MEDICAL GENETICS

Simultaneous detection of TOP2A and HER2 gene amplification by multiplex ligation-dependent probe amplification in breast cancer

(2009) Cathy B Moelans et al.   MODERN PATHOLOGY

High resolution analysis of DNA copy-number aberrations of chromosomes 8, 13, and 20 in gastric cancers

(2009) Tineke E. Buffart et al.   VIRCHOWS ARCHIV

Multiplex ligation-dependent probe amplification for detection of genomic alterations in chronic lymphocytic leukaemia

(2008) Llorenç Coll-Mulet et al.   BRITISH JOURNAL OF HAEMATOLOGY

New applications and developments in the use of multiplex ligation-dependent probe amplification

(2008) Piotr Kozlowski et al.   ELECTROPHORESIS

MS-MLPA is a specific and sensitive technique for detecting all chromosome 11p15.5 imprinting defects of BWS and SRS in a single-tube experiment

(2008) Manuela Priolo et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: a prospective study of 4000 amniotic fluid samples

(2008) Diane Van Opstal et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Prader–Willi syndrome

(2008) Suzanne B Cassidy et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization

(2008) Daniela del Gaudio et al.   HUMAN MUTATION

Microarray-based mutation detection in thedystrophingene

(2008) Madhuri R. Hegde et al.   HUMAN MUTATION

Identification and characterization of cryptic SHOX intragenic deletions in three Japanese patients with Léri–Weill dyschondrosteosis

(2008) Maki Fukami et al.   JOURNAL OF HUMAN GENETICS

Methylation-specific multiplex ligation-dependent probe amplification in meningiomas

(2008) Christian Ewald et al.   JOURNAL OF NEURO-ONCOLOGY

Concurrent methylation of promoters from tumor associated genes predicts outcome in acute myeloid leukemia

(2008) Corine J. Hess et al.   LEUKEMIA & LYMPHOMA

Genomic rearrangements of the CDKN2A locus are infrequent in Italian malignant melanoma families without evidence of CDKN2A/CDK4 point mutations

(2008) Marina Vignoli et al.   MELANOMA RESEARCH

Dystrophin gene analysis in Hungarian Duchenne/Becker muscular dystrophy families – Detection of carrier status in symptomatic and asymptomatic female relatives

(2008) Henriett Pikó et al.   NEUROMUSCULAR DISORDERS

Genetic differences between primary larynx and pharynx carcinomas and their matched lymph node metastases by multiplex ligation-dependent probe amplification

(2008) Marta Alonso Guervós et al.   ORAL ONCOLOGY

Comparison of different techniques for the detection of genetic risk-identifying chromosomal gains and losses in neuroblastoma

(2008) Eva Villamón et al.   VIRCHOWS ARCHIV

IGF2/H19 hypomethylation in Silver–Russell syndrome and isolated hemihypoplasia

(2007) Michael Zeschnigk et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Array-MLPA: comprehensive detection of deletions and duplications and its application to DMD patients

(2007) Fanyi Zeng et al.   HUMAN MUTATION