..., a partial AZFb deletion, and multiple deletions involving the AZFa and AZFc regions, which have not been previously reported ( Table 1 , Supplementary Fig. S1 ). whole exome sequencing MLPA spermatogenic failure copy-number variation mutation non-obstructive azoospermia Japan Society...

...Judith W Heutz; Cleo Rogier; Ellis Niemantsverdriet; Susan J F van den Eeden; Pascal H P de Jong; Erik Lubberts; Annemieke Geluk; Annette H M van der Helm-van Mil Before running the blood samples of the included CSA patients, we performed a separate MLPA run in which we determined the expression...

... in primary immunodeficiency diseases. Graphical Abstract Graphical Abstract ddPCR primary immunodeficiency disorders CNV HAE XLP MLPA Primary immunodeficiency disorders (PIDs) are a heterogeneous group of mostly, but not exclusively, inherited genetic disorders characterized by impairment...

... status of a set of tumor suppressor genes and oncogenes were analyzed by methylation-specific multiplex ligation-dependent probe amplification ([MS-MLPA] ME001-C1, MRC Holland, Amsterdam, The Netherlands). Histopathological examination of the OT revealed a neoplasm with high cellularity composed...

... strains by MLPA of housekeeping genes and advises the application of high-resolution genome-wide analysis for correctly identification of Aeromonas. 08 08 2019 04 12 2019 © The Author(s) 2019. Published by Oxford University Press on behalf of FEMS. 2019...

... Publication Model ( https://dbpia.nl.go.kr/journals/pages/open_access/funder_policies/chorus/standard_publication_model ) CHILDHOOD ONSET GENE HYPOPARATHYROIDISM MLPA NEXT‐GENERATION SEQUENCING Minor allele frequencies were assessed in the database of 1000genomes browser (1000g_All, http://www...

... and GJB6 exons and 4 regions of GJB3 were screened using the SALSA MLPA kit P163-C1 HI probe mix (MRC-Holland). ⁸ The chromosomal regions tested are listed in Table 1 . DNA specimens from 2 healthy individuals (male and female) were used as normal controls, and for all reactions...

... and loci, do not all evolve at exactly the same rate, published Aeromonas phylogenies were congruent to each other, indicating that, phylogenetic markers are synchronized and a concatenated multigene phylogeny, may be ‘the mirror’ of the entire genomic relationships. Thanks to MLPA approaches...

...Lilit Atanesyan; Maryvonne J. Steenkamer; Anja Horstman; Cathy B. Moelans; Jan P. Schouten; Suvi P. Savola When comparing different FFPE tissue fixation conditions in terms of MLPA probe copy number ratio, the optimal fixation time was 12 to 24 hours with 10% neutral buffered formalin at RT...

...) were analyzed by reverse transcriptase multiplex ligation-dependent probe amplification (RT-MLPA) as previously described [ 32 , 33 ]. Controls were matched based on age, sex, index case infectivity (ie, smear grade, X-ray score), and exposure gradient by sleeping proximity to an index case. BCL2 gene...

...Victoria S. Williams; Carl J. Cresswell; Gerhard Ruspi; Tao Yang; Thomas C. Atak; Matthew McLoughlin; Christiana D. Ingram; Andrea H. Ramirez; Dan Roden; Martin Armstrong To address the latter issue, several studies have used multiplex ligation-dependent probe amplification (MLPA; a multiplexed...

...Annette Uwineza; Janvier Hitayezu; Seraphine Murorunkwere; Janvier Ndinkabandi; Celestin Kaputu Kalala Malu; Jean Hubert Caberg; Vinciane Dideberg; Vincent Bours; Leon Mutesa MLPA analysis was carried out according to the manufacturer’s instructions (MRC Holland, Amsterdam, Netherlands). Briefly...

... number (Multiplex Ligation-dependent Probe Amplification, real-time polymerase chain reaction). To our best knowledge this is the first study assessing copy number of GLI2 and GLI3 genes in patients with EA. esophageal atresia MLPA RT-PCR SHH signaling pathway Esophageal...

... ethics committees. Immediately after collection, all biopsy specimens were transferred into tubes containing RNAlater® Tissue Collection (Ambion Inc., USA). Total RNA was isolated using the RNAeasy® Mini Kit (Qiagen, Germany) following the manufacturer's protocol. RT-MLPA analysis was performed...

... (Roche) as described in Harbuz et al. (2010 ). The design of the MLPA probes, MLPA reaction and data analysis were performed according to the recommendation of the MRC-Holland synthetic protocol ( www.mlpa.com ). For this study, three synthetic MLPA probes specific for exons 1, 17 and 22...

... Pseudoprogression is a major diagnostic dilemma in current treatment protocols for malignant gliomas that involve concurrent chemoradiotherapy. We hypothesized that methylation-specific multiplex ligation probe amplification (MS-MLPA), an assay that permits semiquantitative evaluation of promoter methylation, may...

... Hyposmic Complete Visual Field abnormality Whole Gene Male Anosmic Complete Two first cousins with KS Exon 4 Male Anosmic Incomplete Renal Agenesis Kallmann syndrome KAL1 gene hypogonadotropic hypogonadism idiopathic hypogonadotropic hypogonadism MLPA Idiopathic hypogonadotropic...

... in probands with familial breast/ovarian cancer has been greatly improved by the multiplex ligation-dependent probe amplification (MLPA) assay able to evidence gene rearrangements not detectable by standard screening methods. However, no criteria for selection of cases...

...-PCR) and multiplex ligation-dependent probe amplification (MLPA) were performed in DT cases in order to assess parental origin and stage of error of aneuploidy in addition to its reliability in detecting aneuploidies. RESULTS: Karyotyping was successful in 321 miscarriages; the rate of DT was 2.18...

... examination was performed, details of which have already been published ( Harding et al., 1995 ). No central myelin could be demonstrated, in contrast to normal myelin in peripheral nerves. FISH = fluorescence in situ hybridization MLPA = multiplex ligation-dependent probe amplification...