Search Results - "Bryke, Christine R."
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Chromothriptic Cure of WHIM Syndrome
Published in Cell (12-02-2015)“…Chromothripsis is a catastrophic cellular event recently described in cancer in which chromosomes undergo massive deletion and rearrangement. Here, we report a…”
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Incidence and patterns of ALK FISH abnormalities seen in a large unselected series of lung carcinomas
Published in Molecular cytogenetics (2012)“…Anaplastic lymphoma receptor tyrosine kinase (ALK) gene rearrangements have been reported in 2-13% of patients with non-small cell lung cancer (NSCLC)…”
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Distinct Missense Mutations of the FGFR3 Lys650 Codon Modulate Receptor Kinase Activation and the Severity of the Skeletal Dysplasia Phenotype
Published in American journal of human genetics (01-12-2000)“…The fibroblast growth factor–receptor 3 (FGFR3) Lys650 codon is located within a critical region of the tyrosine kinase–domain activation loop. Two missense…”
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Challenging cases of follicular lymphoma diagnosed by core needle biopsy incorporating proliferation index and cytogenetics
Published in Human Pathology Reports (01-06-2022)“…•Small core needle biopsies of enlarged lymph nodes may lead to diagnostic challenges in accurately grading follicular lymphoma and may not be representative…”
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Characteristics of myeloproliferative neoplasms in patients exposed to ionizing radiation following the Chernobyl nuclear accident
Published in American journal of hematology (01-01-2019)“…Myeloproliferative neoplasms (MPNs) driver mutations are usually found in JAK2, MPL, and CALR genes; however, 10%‐15% of cases are triple negative (TN). A…”
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EBV‐positive, HHV8‐negative large B‐cell lymphoma with an unusual germinotropic growth pattern in an immunocompetent patient
Published in Clinical case reports (01-09-2018)“…Key Clinical Message Clinicopathologic and cytogenetic findings of an unusual EBV+ve, HHV8−ve germinotropic lymphoma, with a nongerminal center immunophenotype…”
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EBV ‐positive, HHV 8‐negative large B‐cell lymphoma with an unusual germinotropic growth pattern in an immunocompetent patient
Published in Clinical case reports (01-09-2018)“…Key Clinical Message Clinicopathologic and cytogenetic findings of an unusual EBV +ve, HHV 8−ve germinotropic lymphoma, with a nongerminal center…”
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Vemurafenib-resistance via de novo RBM genes mutations and chromosome 5 aberrations is overcome by combined therapy with palbociclib in thyroid carcinoma with BRAFV600E
Published in Oncotarget (17-10-2017)“…PURPOSEPapillary thyroid carcinoma (PTC) is the most frequent endocrine tumor. BRAFV600E represents the PTC hallmark and is targeted with selective inhibitors…”
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WHIM Syndrome Cured by Chromothripsis
Published in Cancer genetics (01-06-2015)Get full text
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Marfan syndrome type II: there is more to Marfan syndrome than fibrillin 1
Published in Congenital heart disease (01-09-2006)“…Marfan syndrome is a well-described autosomal dominant syndrome with widely variable clinical manifestations. Cardiovascular complications include mitral valve…”
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Abstract 3093: Genomic characteristics of myeloproliferative neoplasms in patients exposed to ionizing radiation following the Chernobyl nuclear accident
Published in Cancer research (Chicago, Ill.) (01-07-2018)“…Abstract Philadelphia-chromosome negative chronic myeloproliferative neoplasms (MPNs) are a unique group of hematological malignancies including Polycytemia…”
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Genomic Characteristics of Myeloproliferative Neoplasms in Patients Exposed to Ionizing Radiation following the Chernobyl Nuclear Accident
Published in American journal of hematology (31-10-2018)“…Myeloproliferative neoplasms (MPNs) driver mutations are usually found in JAK2 , MPL and CALR genes, however, 10–15% of cases are triple negative (TN). A…”
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Abstract B08: New Abelson interactor-1(Abi-1)-driven mechanism of acquired drug resistance
Published in Clinical cancer research (15-02-2015)“…Abstract In hematological malignancies, quiescent leukemic stem cells are responsible for persistence of minimal residual disease and relapse. We have recently…”
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Low expression of Abelson interactor-1 is linked to acquired drug resistance in Bcr-Abl-induced leukemia
Published in Leukemia (01-11-2014)“…The basis for persistence of leukemic stem cells in the bone marrow microenvironment remains poorly understood. We present evidence that signaling cross-talk…”
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Vemurafenib-resistance via de novo RBM genes mutations and chromosome 5 aberrations is overcome by combined therapy with palbociclib in thyroid carcinoma with BRAF V600E
Published in Oncotarget (17-10-2017)“…Papillary thyroid carcinoma (PTC) is the most frequent endocrine tumor. BRAF represents the PTC hallmark and is targeted with selective inhibitors (e.g…”
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Solitary Rectal Ulcer Syndrome in a Teenaged Boy
Published in Journal of pediatric gastroenterology and nutrition (01-10-1985)“…Since the original description of solitary rectal ulcer by Cruveilheir in 1830, about 250 cases have been reported (1). The condition most frequently presents…”
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Desbuquois syndrome: clinical, radiographic, and morphologic characterization
Published in American journal of medical genetics (01-08-1994)“…To further characterize the clinical, radiographic and chondro-osseous morphologic changes in the Desbuquois syndrome, 7 patients from three sibships are…”
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Phenotypic, cytogenetic, and molecular studies of three patients with constitutional deletions of chromosome 5 in the region of the gene for familial adenomatous polyposis
Published in American journal of human genetics (01-05-1992)“…We have studied three patients, one with extensive polyposis of the colon, who have constitutional interstitial deletions of the long arm of chromosome 5…”
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Cytogenetic and molecular characterization of marker chromosomes in patients with mosaic 45,X karyotypes
Published in Human genetics (01-02-1992)“…Cytogenetic and molecular techniques were employed to determine the origin of marker chromosomes in five patients with mosaic 45,X karyotypes. The markers were…”
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