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Mlpa review

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https://www.readbyqxmd.com/read/29178640/expanding-the-mutational-spectrum-in-johanson-blizzard-syndrome-identification-of-whole-exon-deletions-and-duplications-in-the-ubr1-gene-by-multiplex-ligation-dependent-probe-amplification-analysis
#1
Maja Sukalo, Eva Schäflein, Ina Schanze, David B Everman, Nima Rezaei, Jesús Argente, Isabel Lorda-Sanchez, Charu Deshpande, Tsutomu Takahashi, Alexander Kleger, Martin Zenker
BACKGROUND: Johanson-Blizzard syndrome (JBS, MIM #243800) is a very rare autosomal recessive disorder characterized by exocrine pancreatic insufficiency, nasal wing hypoplasia, hypodontia, and other abnormalities. JBS is caused by mutations of the UBR1 gene (MIM *605981), encoding a ubiquitin ligase of the N-end rule pathway. METHODS: Molecular findings in a total of 65 unrelated patients with a clinical diagnosis of JBS who were previously screened for UBR1 mutations by Sanger sequencing were reviewed and cases lacking a disease-causing UBR1 mutation on either one or both alleles were included in this study...
November 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29162042/novel-intragenic-deletions-within-the-ube3a-gene-in-two-unrelated-patients-with-angelman-syndrome-case-report-and-review-of-the-literature
#2
Cinthia Aguilera, Marina Viñas-Jornet, Neus Baena, Elisabeth Gabau, Concepción Fernández, Nuria Capdevila, Sanja Cirkovic, Adrijan Sarajlija, Marijana Miskovic, Danijela Radivojevic, Anna Ruiz, Miriam Guitart
BACKGROUND: Patients with Angelman syndrome (AS) are affected by severe intellectual disability with absence of speech, distinctive dysmorphic craniofacial features, ataxia and a characteristic behavioral phenotype. AS is caused by the lack of expression in neurons of the UBE3A gene, which is located in the 15q11.2-q13 imprinted region. Functional loss of UBE3A is due to 15q11.2-q13 deletion, mutations in the UBE3A gene, paternal uniparental disomy and genomic imprinting defects. CASE PRESENTATION: We report here two patients with clinical features of AS referred to our hospital for clinical follow-up and genetic diagnosis...
November 21, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28903883/the-natural-history-of-the-patients-with-duchenne-muscular-dystrophy-in-taiwan-a-medical-center-experience
#3
Wen-Chen Liang, Chen-Hua Wang, Po-Ching Chou, Wan-Zi Chen, Yuh-Jyh Jong
BACKGROUND: Duchenne muscular dystrophy (DMD) is the most common hereditary muscular dystrophy and caused by DMD gene mutation. In addition to progressive proximal muscle weakness, respiratory, orthopedic, and gastrointestinal complications are often observed in DMD. The natural history of patients with DMD in Taiwan has not been reported thus far. METHODS: Medical records of 39 patients who received a diagnosis of DMD between 1999 and 2016 at Kaohsiung Medical University Hospital were reviewed...
August 25, 2017: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/28595730/recurrent-large-genomic-rearrangements-in-brca1-and-brca2-in-an-irish-case-series
#4
Terri P McVeigh, Nuala Cody, Cliona Carroll, Marie Duff, Michael Farrell, Lisa Bradley, David Gallagher, Trudi McDevitt, Andrew J Green
Mutations in BRCA1 and BRCA2 confer a highly increased risk of cancers, mainly of the breast and ovary. Most variants are point mutations or small insertions/deletions detectable by Sanger sequencing. Large genomic rearrangements, including deletions/duplications of multiple exons, are not routinely detectable by Sanger sequencing, but can be reliably identified by Multiplex Ligation-dependent Probe Amplification (MLPA), and account for 5-17% mutations in different populations. Comprehensive mutation testing using these two methods has been facilitated via our centre since 2005...
August 2017: Cancer Genetics
https://www.readbyqxmd.com/read/28300276/reassessing-the-clinical-spectrum-associated-with-hereditary-leiomyomatosis-and-renal-cell-carcinoma-syndrome-in-french-fh-mutation-carriers
#5
M Muller, S Ferlicot, M Guillaud-Bataille, G Le Teuff, C Genestie, S Deveaux, A Slama, N Poulalhon, B Escudier, L Albiges, N Soufir, M-F Avril, B Gardie, C Saldana, Y Allory, A-P Gimenez-Roqueplo, B Bressac-de Paillerets, S Richard, P R Benusiglio
We addressed uncertainties regarding hereditary leiomyomatosis and renal cell carcinoma (HLRCC) by exploring all French cases, representing the largest series to date. Fumarate hydratase (FH) germline testing was performed with Sanger sequencing and qPCR/MLPA. Enzyme activity was measured when necessary. We carried out whenever possible a pathology review of RCC and S-(2-succino)-cysteine (2SC)/fumarate hydratase immunohistochemistry. We estimated survival using non-parametric Kaplan-Meier. There were 182 cases from 114 families...
March 16, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28259864/-an-attempt-to-identify-22q11-2-microdeletions-in-samples-of-the-hungarian-schizophrenia-dna-bank-by-multiplex-ligation-based-probe-amplification-mlpa-literature-review-methodology-and-results
#6
Izabella Klein, Katalin Szocs, Katalin Vincze, Judit Benkovits, Szilvia Somogyi, Levente Herman, Janos M Rethelyi
Schizophrenia is a severe debilitating psychiatric disorder, with a typical onset in adolescence or early adulthood. This condition is characterized by heterogeneous symptoms (hallucinations, delusions, disorganized behaviour, affective flattening, and social isolation) and a life-time prevalence of 0.5-1.2%. In spite of the efforts to uncover the etiology of the disorder, its pathogenesis and neurobiological background are poorly understood. Given the high heritability in schizophrenia, genetic research remains an important area of focus...
December 2016: Neuropsychopharmacologia Hungarica
https://www.readbyqxmd.com/read/28181689/prenatal-diagnosis-of-duchenne-muscular-dystrophy-in-131-chinese-families-with-dystrophinopathy
#7
Huanhuan Wang, Yan Xu, Xiaoqing Liu, Lei Wang, Wenting Jiang, Bing Xiao, Wei Wei, Yingwei Chen, Weiping Ye, Xing Ji
OBJECTIVES: The objective of this study is to report 6-year clinical prenatal diagnosis experience of Duchenne muscular dystrophy (DMD)-affected families evaluated at a single prenatal diagnosis center in China and establish a reliable and rational prenatal diagnosis procedure for DMD families. METHODS: The prenatal diagnosis data of 146 at-risk pregnancies in 131 DMD families referred to our center from 2010 to 2016 were retrospectively reviewed. RESULTS: The mutation detection rate of the probands was greater than 99%...
April 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27762221/human-metapneumovirus-in-haematopoietic-stem-cell-transplantation-recipients-a-case-series-and-review-of-the-diagnostic-and-therapeutic-approach
#8
REVIEW
B P C Hoppe, E de Jongh, A Griffioen-Keijzer, J M Zijlstra-Baalbergen, E P F IJzerman, F Baboe
Human metapneumovirus (hMPV) is a paramyxovirus that causes respiratory tract infections ranging from mild upper airway infection to severe pneumonia. Patients with haematological disease, especially haematopoietic stem cell transplantation (HSCT) recipients, are more likely to develop more severe infections. We describe three cases of hMPV infection in HSCT patients. The most reliable diagnostic procedure for hMPV is multiplex ligation-dependent probe amplification (MLPA) on a nasopharyngeal swab. Sensitivity and specificity of MLPA to detect hMPV is high and time to diagnosis is short...
October 2016: Netherlands Journal of Medicine
https://www.readbyqxmd.com/read/27707671/cytogenetics-in-the-management-of-children-and-adult-acute-lymphoblastic-leukemia-all-an-update-by-the-groupe-francophone-de-cytog%C3%A3-n%C3%A3-tique-h%C3%A3-matologique-gfch
#9
REVIEW
Laurence Baranger, Wendy Cuccuini, Christine Lefebvre, Isabelle Luquet, Christine Perot, Isabelle Radford, Marina Lafage-Pochitaloff
Cytogenetic analyses (karyotype and, if necessary, appropriate complementary FISH analyses) are mandatory at diagnosis in acute lymphoblastic leukemia (ALL) as their results are taken into account in therapeutic protocols due to their diagnostic and prognostic values. In some cases, karyotype can be completed by other techniques (RT-PCR, RQ-PCR, DNA content, SNP-array, MLPA…) that can be equally or more informative than FISH. Here, we have tempted to establish guidelines concerning karyotype and FISH analyses according to the most recent data of the litterature which is reviewed here, completing the 2008 WHO classification with the recent new cytogenomic entities such as Ph-like ALL and indicating possible therapeutic implications...
October 1, 2016: Annales de Biologie Clinique
https://www.readbyqxmd.com/read/27604558/identification-of-15-novel-partial-shox-deletions-and-13-partial-duplications-and-a-review-of-the-literature-reveals-intron-3-to-be-a-hotspot-region
#10
REVIEW
Sara Benito-Sanz, Alberta Belinchon-Martínez, Miriam Aza-Carmona, Carolina de la Torre, Celine Huber, Isabel González-Casado, Judith L Ross, N Simon Thomas, Andrew R Zinn, Valerie Cormier-Daire, Karen E Heath
Short stature homeobox gene (SHOX) is located in the pseudoautosomal region 1 of the sex chromosomes. It encodes a transcription factor implicated in the skeletal growth. Point mutations, deletions or duplications of SHOX or its transcriptional regulatory elements are associated with two skeletal dysplasias, Léri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD), as well as in a small proportion of idiopathic short stature (ISS) individuals. We have identified a total of 15 partial SHOX deletions and 13 partial SHOX duplications in LWD, LMD and ISS patients referred for routine SHOX diagnostics during a 10 year period (2004-2014)...
February 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/27467201/a-clinical-and-molecular-genetic-study-in-11-chinese-children-with-peutz-jeghers-syndrome
#11
Bixia Zheng, Chunli Wang, Zhanjun Jia, Zhifeng Liu, Mei Li, Yu Jin, Jian Pan
OBJECTIVES: Peutz-Jeghers syndrome (PJS) is caused by the germline mutations in serine/threonine kinase 11 (STK11) gene. The aim of the present study was to investigate the spectrum of STK11 gene mutations using multiplex ligation-dependent probe amplification (MLPA) assay in combination with direct sequencing in Chinese children with PJS. METHODS: Nine children who met the clinical criteria for PJS and 2 presumed patients with PJS were enrolled in the present study...
April 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/27356182/small-cell-undifferentiated-scud-hepatoblastomas-all-malignant-rhabdoid-tumors
#12
Christian Vokuhl, Florian Oyen, Beate Häberle, Dietrich von Schweinitz, Reinhard Schneppenheim, Ivo Leuschner
Small cell undifferentiated (SCUD) hepatoblastoma is a rare variant of hepatoblastoma with poor outcome and loss of INI1 expression, sharing this with malignant rhabdoid tumors (MRT). We studied all tumors from the files of the Kiel Pediatric Tumor Registry (KTR) with the initial diagnosis of SCUD and MRT. After re-review, we performed immunistochemistry, fluorescence in situ hybridization, and multiplex ligation dependent probe amplification for loss of expression and deletion of INI1/SMARCB1 in 23 tumors...
December 2016: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/27185867/molecular-cyp21a2-diagnosis-in-480-brazilian-patients-with-congenital-adrenal-hyperplasia-before-newborn-screening-introduction
#13
Daniel F de Carvalho, Mirela C Miranda, Larissa G Gomes, Guiomar Madureira, José A M Marcondes, Ana Elisa C Billerbeck, Andresa S Rodrigues, Paula F Presti, Hilton Kuperman, Durval Damiani, Berenice B Mendonca, Tania A S S Bachega
BACKGROUND: Most congenital adrenal hyperplasia (CAH) patients carry CYP21A2 mutations derived from conversion events involving the pseudogene, and the remaining carry new mutations. OBJECTIVE: To review causal mutations and genotype-phenotype correlation in 480 Brazilian patients. METHODS: DNA was extracted from 158 salt-wasters (SWs), 116 simple virilizing (SV), and 206 nonclassical (NC) patients. Fourteen point mutations were screened by allele-specific PCR, large rearrangements by Southern blotting/MLPA, and sequencing was performed in those with incomplete genotype...
August 2016: European Journal of Endocrinology
https://www.readbyqxmd.com/read/27171825/bilateral-diffuse-uveal-melanocytic-proliferation-molecular-genetic-analysis-of-a-case-and-review-of-the-literature
#14
Ruchi Mittal, Svetlana Cherepanoff, Sophie Thornton, Helen Kalirai, Bertil Damato, Sarah E Coupland
PURPOSE OF THE STUDY: To describe the clinicopathological features, mutational and chromosomal copy number analysis, and 8-year follow-up of a case of bilateral diffuse uveal melanocytic proliferation (BDUMP) associated with clear-cell carcinoma of the endometrium. METHODS: Histological evaluation, multiplex ligation-dependent probe amplification (MLPA) analysis and GNAQ/11 mutational analysis were performed in a 67-year-old female patient with the diagnosis of BDUMP...
December 2015: Ocular Oncology and Pathology
https://www.readbyqxmd.com/read/27098748/genetic-findings-in-treatment-na%C3%A3-ve-and-proton-beam-radiated-iris-melanomas
#15
Yamini Krishna, Helen Kalirai, Sophie Thornton, Bertil E Damato, Heinrich Heimann, Sarah E Coupland
BACKGROUND/AIMS: Iris melanomas (IM) are rare and have a lower mortality than posterior uveal melanomas (UM). Our aims were to determine the prevalence of genetic changes associated with prognosis of posterior UM, in both treated and non-treated IM. METHODS: Retrospective database review and molecular analysis of all patients diagnosed with IM at the Liverpool Ocular Oncology Centre (LOOC) between 1993 and 2015. Archival pathology specimens of confirmed IM cases were analysed for chromosomal alterations, using multiplex ligation-dependent probe amplification (MLPA) or microsatellite analysis (MSA) depending on DNA yield, and BRAF mutation status...
July 2016: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/26968818/mutational-spectrum-of-duchenne-muscular-dystrophy-in-spain-study-of-284-cases
#16
I Vieitez, P Gallano, L González-Quereda, S Borrego, I Marcos, J M Millán, T Jairo, C Prior, J Molano, M J Trujillo-Tiebas, J Gallego-Merlo, M García-Barcina, M Fenollar, C Navarro
INTRODUCTION: Duchenne muscular dystrophy (DMD) is a severe X-linked recessive neuromuscular disease that affects one in 3500 live-born males. The total absence of dystrophin observed in DMD patients is generally caused by mutations that disrupt the reading frame of the DMD gene, and about 80% of cases harbour deletions or duplications of one or more exons. METHODS: We reviewed 284 cases of males with a genetic diagnosis of DMD between 2007 and 2014. These patients were selected from 8 Spanish reference hospitals representing most areas of Spain...
July 2017: Neurología: Publicación Oficial de la Sociedad Española de Neurología
https://www.readbyqxmd.com/read/26893599/identification-of-1p36-deletion-syndrome-in-patients-with-facial-dysmorphism-and-developmental-delay
#17
Go Hun Seo, Ja Hye Kim, Ja Hyang Cho, Gu-Hwan Kim, Eul-Ju Seo, Beom Hee Lee, Jin-Ho Choi, Han-Wook Yoo
PURPOSE: The 1p36 deletion syndrome is a microdeletion syndrome characterized by developmental delays/intellectual disability, craniofacial dysmorphism, and other congenital anomalies. To date, many cases of this syndrome have been reported worldwide. However, cases with this syndrome have not been reported in Korean populations anywhere. This study was performed to report the clinical and molecular characteristics of five Korean patients with the 1p36 deletion syndrome. METHODS: The clinical characteristics of the 5 patients were reviewed...
January 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/26875463/-significance-of-ikaros-family-zinc-finger-1-deletion-in-pediatric-b-acute-lymphoblastic-leukemia-without-reproducible-cytogenetic-abnormalities
#18
Xiaoming Liu, Li Zhang, Yao Zou, Lixian Chang, Wei Wei, Min Ruan, Yumei Chen, Wenyu Yang, Xiaojuan Chen, Ye Guo, Shuchun Wang, Tianfeng Liu, Jiayuan Zhang, Fang Liu, Benquan Qi, Wenbin An, Xiaofan Zhu
OBJECTIVE: To identify ikaros family zinc finger1 (IKZF1) deletion in patients with pediatric B cells-acute lymphoblastic leukemia (B-ALL) without reproducible chromosomal abnomalities and further investigate its value in this part of patients' pathogenesis and prognosis. METHOD: The study was approved by the institutional review board of the authors' hospital and informed consent was obtained from the patients and/or their legal guardians. Data of 96 children with B-ALL patients without reproducible cytogenetic abnormalities whose bone marrows specimens were enough for DNA extraction for the detection were retrospectively selected...
February 2016: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/26849454/duane-retraction-syndrome-in-a-patient-with-duchenne-muscular-dystrophy
#19
Thomas M Bosley, Mustafa A Salih, Hisham Alkhalidi, Darren T Oystreck, Heba Y El Khashab, Altaf A Kondkar, Khaled K Abu-Amero
PURPOSE: We describe the clinical features of a boy with bilateral Duane retraction syndrome (DRS), Duchenne muscular dystrophy (DMD), and other medical problems. METHODS: The child was followed-up for five years; his chart was reviewed, including the results of a muscle biopsy and genetic testing. Multiplex ligation-dependent probe amplification (MLPA) was used to interrogate deletions/duplications in the dystrophin gene. RESULTS: The proband had bilateral DRS with otherwise normal ocular motility; he also had developmental delay, mild mental retardation, and seizures...
September 2016: Ophthalmic Genetics
https://www.readbyqxmd.com/read/26743743/pitfalls-of-multiple-ligation-dependent-probe-amplifications-in-detecting-dmd-exon-deletions-or-duplications
#20
Man Jin Kim, Sung Im Cho, Jong-Hee Chae, Byung Chan Lim, Jee-Soo Lee, Seung Jun Lee, Soo Hyun Seo, Hyunwoong Park, Anna Cho, So Yeon Kim, Ji Yeon Kim, Sung Sup Park, Moon-Woo Seong
Multiple ligation-dependent probe amplifications (MLPAs) are a key technology for the molecular diagnosis of Duchenne/Becker muscular dystrophy, which is mainly caused by large gene arrangements. However, little is known about the false-positive rates of MLPA for this disease. Here, we review MLPA analysis results from 398 patients suspected to have Duchenne/Becker muscular dystrophy. MLPA assay was used for screening the entire coding region. If these amplifications produced normal results, direct sequencing was performed to search for sequence variations and to determine single-exon deletions, duplications, or indeterminate results...
March 2016: Journal of Molecular Diagnostics: JMD
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