Wholistic approach: Transcriptomic analysis and beyond using archival material for molecular diagnosis
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DOI: 10.1002/gcc.23026
Abstract: Many neoplasms remain unclassified after histopathological examination, which requires further molecular analysis. To this regard, mesenchymal neoplasms are particularly challenging due to the combination of their rarity and the large number of subtypes, and many… read more here.
Keywords: wholistic approach; archival material; analysis; approach transcriptomic ... See more keywords
Molecular diagnosis of somatic overgrowth conditions: A single‐center experience
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DOI: 10.1002/mgg3.536
Abstract: Somatic overgrowth conditions, including Proteus syndrome, Sturge–Weber syndrome, and PIK3CA‐related overgrowth spectrum, are caused by post‐zygotic pathogenic variants, result in segmental mosaicism, and give rise to neural, cutaneous and/or lipomatous overgrowth. These variants occur in… read more here.
Keywords: somatic overgrowth; overgrowth conditions; diagnosis somatic; conditions single ... See more keywords
Cytogenetic and molecular diagnosis of Fanconi anemia revealed two hidden phenotypes: Disorder of sex development and cerebro‐oculo‐facio‐skeletal syndrome
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.694
Abstract: Several studies have shown a high rate of consanguinity and endogamy in North African populations. As a result, the frequency of autosomal recessive diseases is relatively high in the region with the co‐occurrence of two… read more here.
Keywords: fanconi anemia; diagnosis fanconi; anemia revealed; molecular diagnosis ... See more keywords
Molecular diagnosis in children with fractures but no extraskeletal signs of osteogenesis imperfecta
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DOI: 10.1007/s00198-017-4031-2
Abstract: SummaryIn 26 of 94 individuals (28%) below 21 years of age who had a significant fracture history but did not have extraskeletal features of osteogenesis imperfecta (OI), we detected disease-causing mutations in OI-associated genes.IntroductionIn children who… read more here.
Keywords: diagnosis; diagnosis children; osteogenesis imperfecta; molecular diagnosis ... See more keywords
“Transcriptomics”: molecular diagnosis of inborn errors of metabolism via RNA-sequencing
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Inherited Metabolic Disease"
DOI: 10.1007/s10545-017-0133-4
Abstract: Exome wide sequencing techniques have revolutionized molecular diagnostics in patients with suspected inborn errors of metabolism or neuromuscular disorders. However, the diagnostic yield of 25–60% still leaves a large fraction of individuals without a diagnosis.… read more here.
Keywords: diagnosis; errors metabolism; rna sequencing; molecular diagnosis ... See more keywords
Approach to Molecular Diagnosis of Chronic Granulomatous Disease (CGD): an Experience from a Large Cohort of 90 Indian Patients
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Clinical Immunology"
DOI: 10.1007/s10875-018-0567-y
Abstract: BackgroundChronic granulomatous disease (CGD) is characterized by mutation in any one of the five genes coding NADPH oxidase components that leads to functional abnormality preventing the killing of phagocytosed microbes by affecting the progression of… read more here.
Keywords: ncf1 gene; cgd; molecular diagnosis; gene ... See more keywords
Addressing Molecular Diagnosis of Occupational Allergies
Sign Up to like & getrecommendations! Published in 2018 at "Current Allergy and Asthma Reports"
DOI: 10.1007/s11882-018-0759-9
Abstract: Purpose of ReviewNumerous clinically relevant allergenic molecules enhance the performance of specific (s) IgE tests and improve the specificity of allergy diagnosis. This review aimed to summarize our current knowledge of the high-molecular-weight allergens involved… read more here.
Keywords: diagnosis; occupational allergens; addressing molecular; diagnosis occupational ... See more keywords
A nested-PCR strategy for molecular diagnosis of mollicutes in uncultured biological samples from cows with vulvovaginitis.
Sign Up to like & getrecommendations! Published in 2018 at "Animal reproduction science"
DOI: 10.1016/j.anireprosci.2017.11.018
Abstract: Bacteria classified in Mycoplasma (M. bovis and M. bovigenitalium) and Ureaplasma (U. diversum) genera are associated with granular vulvovaginitis that affect heifers and cows at reproductive age. The traditional means for detection and speciation of… read more here.
Keywords: strategy molecular; strategy; molecular diagnosis; pcr strategy ... See more keywords
Relevance of calcification and contrast enhancement pattern for molecular diagnosis and survival prediction of gliomas based on the 2016 World Health Organization Classification
Sign Up to like & getrecommendations! Published in 2019 at "Clinical Neurology and Neurosurgery"
DOI: 10.1016/j.clineuro.2019.105556
Abstract: OBJECTIVES The significance of conventional neuroimaging features for predicting molecular diagnosis and patient survival based on the updated World Health Organization (WHO) classification remains uncertain. We assessed the relevance of neuroimaging features (ring enhancement [RE],… read more here.
Keywords: gde; idh; enhancement; molecular diagnosis ... See more keywords
Molecular diagnosis and targeted treatment of advanced follicular cell-derived thyroid cancer in the precision medicine era.
Sign Up to like & getrecommendations! Published in 2022 at "Cancer treatment reviews"
DOI: 10.1016/j.ctrv.2022.102380
Abstract: Most malignant thyroid tumours are initially treated with surgery or a combination of surgery and radioactive iodine (RAI) therapy. However, in patients with metastatic disease, many tumours become refractory to RAI, and these patients require… read more here.
Keywords: cancer; molecular diagnosis; medicine; treatment ... See more keywords
Towards a future molecular diagnosis of autism: Recent advances in biomarkers research from saliva samples
Sign Up to like & getrecommendations! Published in 2018 at "International Journal of Developmental Neuroscience"
DOI: 10.1016/j.ijdevneu.2018.03.004
Abstract: Autism spectrum disorder diagnosis is currently based on clinical observations and behavioral evaluations exclusively, without any biological determination. Molecular biomarkers are usually obtained from biological fluids, such as blood or urine, generally through invasive and… read more here.
Keywords: future molecular; saliva; towards future; diagnosis ... See more keywords