Results 21 to 30 of about 29,886 (297)

High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation-dependent probe amplification assay

Haematologica, 2012
Diamond-Blackfan anemia is an autosomal dominant disease due to mutations in nine ribosomal protein encoding genes. Because most mutations are loss of function and detected by direct sequencing of coding exons, we reasoned that part of the approximately ...
Paola Quarello, Emanuela Garelli, Alfredo Brusco, Adriana Carando, Cecilia Mancini, Patrizia Pappi, Luciana Vinti, Johanna Svahn, Irma Dianzani, Ugo Ramenghi   +9 more
doaj   +1 more source

Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region [PDF]

, 2010
Mutations in ABCC6 cause pseudoxanthoma elasticum (PXE), a heritable disease that affects elastic fibers. Thus far, >200 mutations have been characterized by various PCR-based techniques (primarily direct sequencing), identifying up to 90% of PXE-causing
Chassaing, N, Costrop, Laura, Coucke, Paul, De Paepe, Anne, Guerra, D, Le Saux, Olivier, Martin, L, Pasquali-Ronchetti, I, Van Laer, Lut, Vanakker, Olivier   +9 more
core   +2 more sources

Oncogene amplification in male breast cancer: analysis by multiplex ligation-dependent probe amplification [PDF]

Breast Cancer Research and Treatment, 2012
Gene amplification is an important mechanism for oncogene activation, a crucial step in carcinogenesis. Compared to female breast cancer, little is known on the genetic makeup of male breast cancer, because large series are lacking. Copy number changes of 21 breast cancer related genes were studied in 110 male breast cancers using multiplex ligation ...
Kornegoor, Robert, Moelans, Cathy B., Verschuur-Maes, Anoek H. J., Hogenes, Marieke C. H., de Bruin, Peter C., Oudejans, Joost J., Marchionni, Luigi, van Diest, Paul J.   +7 more
openaire   +2 more sources

Ligation-Independent Mechanism of Multiplex Ligation-Dependent Probe Amplification

Analytical Sciences, 2014
Multiplex ligation-dependent probe amplification (MLPA) is a widely used technique for detecting genomic structural variants. The technique is based on hybridization and ligation, followed by amplification of the ligation products. Therefore, ligation is considered a fundamental process that determines the feasibility and fidelity of MLPA.
Naoki, Uno, Katsunori, Yanagihara
openaire   +3 more sources

Rapid analysis of Saccharomyces cerevisiae genome rearrangements by multiplex ligation-dependent probe amplification. [PDF]

PLoS Genetics, 2012
Aneuploidy and gross chromosomal rearrangements (GCRs) can lead to genetic diseases and the development of cancer. We previously demonstrated that introduction of the repetitive retrotransposon Ty912 onto a nonessential chromosome arm of Saccharomyces ...
Jason E Chan, Richard D Kolodner
doaj   +1 more source

A multiplex oligonucleotide ligation-PCR as a complementary tool for subtyping of Salmonella Typhimurium [PDF]

, 2015
Subtyping below the serovar level is essential for surveillance and outbreak detection and investigation of Salmonella enterica subsp. enterica serovar Typhimurium (S. Typhimurium) and its monophasic variant 1,4,[5],12:i:- (S.
Bertrand, Sophie, De Keersmaecker, Sigrid CJ, Marchal, Kathleen, Mattheus, Wesley, Roosens, Nancy HC, Wuyts, Véronique   +5 more
core   +2 more sources

SINDROMUL PRADER WILLI IDENTIFICAT PRIN TEHNICA MS-MLPA (METHYLATION SPECIFIC MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION) [PDF]

Romanian Journal of Pediatrics, 2017
Sindromul Prader-Willi (SPW) reprezintă o afecţiune genetică complexă, multisistemică, cauzată de lipsa expresiei genelor din regiunea q11.2-q13 a cromozomului 15 patern.
Simona Loredana Vasilache, Adelina Micheu, Claudia Bănescu, Valeriu Moldovan, Carmen Duicu, Ionela Maria Paşcanu, Oana Mărginean   +6 more
doaj   +1 more source

Low level CpG island promoter methylation predicts a poor outcome in adult T-cell acute lymphoblastic leukemia

Haematologica, 2020
Cancer cells undergo massive alterations in their DNA methylation patterns which result in aberrant gene expression and malignant phenotypes. Abnormal DNA methylation is a prognostic marker in several malignancies, but its potential prognostic ...
Aurore Touzart, Nicolas Boissel, Mohamed Belhocine, Charlotte Smith, Carlos Graux, Mehdi Latiri, Ludovic Lhermitte, Eve-Lyne Mathieu, Françoise Huguet, Laurence Lamant, Pierre Ferrier, Norbert Ifrah, Elizabeth Macintyre, Hervé Dombret, Vahid Asnafi, Salvatore Spicuglia   +15 more
doaj   +1 more source

Terminal microdeletion of chromosome 18 in a Malaysian boy characterized with few features of typical 18q- deletion syndrome: a case report

Journal of Medical Case Reports, 2023
Background The 18q- deletion syndrome is a rare congenital chromosomal disorder caused by a partial deletion of the long arm of chromosome 18. The diagnosis of a patient with this syndrome relies on the family medical history, physical examination ...
Azli Ismail, Fadly Ahid, Meow-Keong Thong, Zubaidah Zakaria   +3 more
doaj   +1 more source

Multiplex quantitative analysis of microRNA expression via exponential isothermal amplification and conformation-sensitive DNA separation [PDF]

, 2019
Expression profiling of multiple microRNAs (miRNAs) generally provides valuable information for understanding various biological processes. Thus, it is necessary to develop a sensitive and accurate miRNA assay suitable for multiplexing.
Jung, Gyoo Yeol, Lee, Seung-Jae V., Na, Jeongkyeong, Shin, Gi Won, Son, Heehwa G.   +4 more
core   +1 more source