Search Results - "Lopes, Jaime L."
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Uniparental disomy of multiple chromosomes in two cases with a complex phenotype
Published in American journal of medical genetics. Part A (01-07-2023)“…Uniparental disomy (UPD) is the inheritance of both chromosomal homologs from one parent. Depending on the chromosome involved and the parental origin, UPD may…”
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The Innate Immune System Surveillance Biomarker p87 in African Americans and Caucasians with Small High-Grade Dysplastic Adenoma [SHiGDA] and Right-Sided JAK3 Colon Mutations May Explain the Presence of Multiple Cancers Revealing an Important Minority of Patients with JAK3 Mutations and Colorectal Neoplasia
Published in Gastrointestinal disorders (Basel, Switzerland) (01-06-2024)“…Colorectal cancer (CRC) outcomes in terms of incidence and mortality are significantly worse in African Americans than other Americans. While differences in…”
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Unconventional Diagnosis Based on Somatic Findings through Germ Line Whole-Exome Sequencing
Published in Clinical chemistry (Baltimore, Md.) (01-01-2020)“…Karyotyping for the bone marrow specimen was normal. [...]the patient's condition was ultimately diagnosed as clonal cytopenia of undetermined significance,…”
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Most noninvasive prenatal screens failing due to inadequate fetal cell free DNA are negative for trisomy when repeated
Published in Prenatal diagnosis (01-06-2020)“…Objective We aimed to test for an association between the amount of circulating fetal cell‐free DNA and trisomy, and whether NIPS failure due to low fetal…”
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Targeted Genotyping in Clinical Pharmacogenomics: What Is Missing?
Published in The Journal of molecular diagnostics : JMD (01-03-2022)“…Clinical pharmacogenomic testing typically uses targeted genotyping, which only detects variants included in the test design and may vary among laboratories…”
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FANCM, RAD1, CHEK1 and TP53I3 act as BRCA-like tumor suppressors and are mutated in hereditary ovarian cancer
Published in Cancer genetics (01-06-2019)“…•Deficiency of CHEK1, FANCM and TP53I3 led to reduced homologous recombination repair efficiency.•Deficiency of RAD1, CHEK1 or FANCM led to a decrease in…”
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Identification of sex-specific genetic associations in response to opioid analgesics in a White, non-Hispanic cohort from Southeast Minnesota
Published in The pharmacogenomics journal (01-03-2022)“…The study of sex-specific genetic associations with opioid response may improve the understanding of inter-individual variability in pain treatments. We…”
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Characterizing false-positive fluorescence in situ hybridization results by mate-pair sequencing in a patient with chronic myeloid leukemia and progression to myeloid blast crisis
Published in Cancer genetics (01-05-2020)“…•Newly acquired clonal chromosomal abnormalities in chronic myeloid leukemia (CML) usually indicate disease progression.•Conventional chromosome and…”
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16. Uniparental disomy (UPD) of multiple chromosomes in two cases with a complex phenotype
Published in Cancer genetics (01-06-2022)Get full text
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Most Non Invasive Prenatal Screens Failing Due to Inadequate Fetal Cell Free DNA are Negative for Trisomy when Repeated
Published in Prenatal diagnosis (20-04-2020)Get full text
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Targeted Genotyping in Clinical Pharmacogenomics
Published in The Journal of molecular diagnostics : JMD (01-03-2022)“…Clinical pharmacogenomic testing typically uses targeted genotyping, which only detects variants included in the test design and may vary among laboratories…”
Get full text
Journal Article -
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The Innate Immune System Surveillance Biomarker p87 in African Americans and Caucasians with Small High-Grade Dysplastic Adenoma SHiGDA and Right-Sided JAK3 Colon Mutations May Explain the Presence of Multiple Cancers Revealing an Important Minority of Patients with JAK3 Mutations and Colorectal Neoplasia
Published in Gastrointestinal disorders (Basel, Switzerland) (07-06-2024)“…Colorectal cancer (CRC) outcomes in terms of incidence and mortality are significantly worse in African Americans than other Americans. While differences in…”
Get full text
Journal Article