Results 121 to 130 of about 18,361 (285)

Detecting Copy Number Changes in Genomic DNA: MAPH and MLPA

open access: yes, 2004
Publisher Summary Copy number changes, that is, deletions, duplications, and amplifications in genomic DNA are involved in many genetic diseases. However, detection of these rearrangements is rather difficult, mainly because the assay applied should be quantitative. This chapter describes multiplex amplifiable probe hybridization (MAPH) and multiplex
Stefan J, White   +2 more
openaire   +3 more sources

Synchronous B‐Cell Precursor Acute Lymphoblastic Leukaemia and Wilms Tumour in a Patient With Lateralised Overgrowth: Causation or Coincidence?

open access: yes
Pediatric Blood &Cancer, Volume 73, Issue 1, January 2026.
Karolina Miarka‐Walczyk   +7 more
wiley   +1 more source

Anormal hemoglobinlerin tanısında MLPA tasarımı

open access: yes, 2010
MLPA (Multiplex Ligation-Dependent Probe Amplification) is a multiplex PCR method discribed by Schouten et al in 2002. This method includes the detection of exon deletions, duplications and abnormal copy numbers of different genomic DNA samples, also allows multiple targets to be amplified with only a single primer pair.
openaire   +2 more sources

[Detection of a Williams Beuren syndrome case by MLPA].

open access: yesMedicina, 2013
Fil: Marsá, Silvana. Pediátrica San Luis Centro Médico Privado; Argentina;
Laurito, Sergio Roberto   +5 more
openaire   +2 more sources

MLPA en el estudio de desórdenes genómicos

open access: yes, 2009
Fil: Calderón, Enrique. Universidad Nacional de Cuyo. Facultad de Ciencias Médicas. Instituto de Genética.
Ramírez, Jésica   +10 more
openaire   +1 more source

STUDY ON APPLICATION OF MULTIPLEX LIGATION-DEPENDENT PROBE AMPLIFICATION (MLPA) ASSAY IN MOLECULAR DIAGNOSIS OF RETINOBLASTOMA [PDF]

open access: diamond, 2018
Vũ Phương Nhung   +7 more
openalex   +1 more source

Hereditary protein S deficiency from a novel large deletion mutation of the PROS1 gene detected by multiplex ligation-dependent probe amplification (MLPA)

open access: green, 2009
Jong-Ha Yoo   +8 more
openalex   +2 more sources

Identification of a novel DMD duplication identified by a combination of MLPA and targeted exome sequencing [PDF]

open access: gold, 2017
Beibei Wu   +7 more
openalex   +1 more source

MLPAnalyzer: data analysis tool for reliable automated normalization of MLPA fragment data.

open access: green, 2008
Jordy Coffa   +5 more
openalex   +3 more sources

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