Search Results - "GREER, Wenda L"

Impaired ABCA1-dependent Lipid Efflux and Hypoalphalipoproteinemia in Human Niemann-Pick type C Disease by Choi, Hong Y., Karten, Barbara, Chan, Teddy, Vance, Jean E., Greer, Wenda L., Heidenreich, Randall A., Garver, William S., Francis, Gordon A.

“…The cholesterol trafficking defect in Niemann-Pick type C (NPC) disease leads to impaired regulation of cholesterol esterification, cholesterol synthesis, and…”
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Novel splice-site mutation in ATP8B1 results in atypical Progressive Familial Intrahepatic Cholestasis Type 1 by Copeland, Emily, Renault, Nisa, Renault, Marc, Dyack, Sarah, Bulman, Dennis E, Bedard, Karen, Otley, Anthony, Magee, Fergall, Acott, Philip, Greer, Wenda L

“…Background and Aim Our objective was to identify the molecular genetic basis of an Alagille‐like condition not linked to JAG1 or NOTCH2 in two related…”
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Genetic profiles of different subsets of Merkel cell carcinoma show links between combined and pure MCPyV-negative tumors by Carter, Michael D., Gaston, Dan, Huang, Weei-Yuarn, Greer, Wenda L., Pasternak, Sylvia, Ly, Thai Yen, Walsh, Noreen M.

“…Tumorigenesis in Merkel cell carcinoma (MCC) is driven by (1) clonal integration of the Merkel cell polyomavirus (MCPyV) in neoplastic cells and/or (2) genetic…”
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Familial skewed X-chromosome inactivation linked to a component of the cohesin complex, SA2 by Renault, Nisa K E, Renault, Marc P, Copeland, Emily, Howell, Robin E, Greer, Wenda L

“…The gene dosage inequality between females with two X-chromosomes and males with one is compensated for by X-chromosome inactivation (XCI), which ensures the…”
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Multiplex Ligation-Dependent Probe Amplification Versus Multiprobe Fluorescence in Situ Hybridization To Detect Genomic Aberrations in Chronic Lymphocytic Leukemia by Al Zaabi, Eiman A, Fernandez, Louis A, Sadek, Irene A, Riddell, D. Christie, Greer, Wenda L

“…Cytogenetic abnormalities play a major role in the prognosis of patients with chronic lymphocytic leukemia (CLL). Several methods have emerged to try to best…”
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Factor V Leiden, prothrombin gene mutation, and thrombosis risk in patients with antiphospholipid antibodies by CHOPRA, Nikhil, KOREN, Sharon, GREER, Wenda L, FORTIN, Paul R, RAUCH, Joyce, FORTIN, Isabelle, SENECAL, Jean-Luc, DOCHERTY, Peter, HANLY, John G

“…OBJECTIVE: To determine if the prevalence of 2 prothrombotic genetic factors, factor V Leiden and prothrombin gene mutation, is increased in patients with…”
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Heritable skewed X-chromosome inactivation leads to haemophilia A expression in heterozygous females by RENAULT, Nisa K, DYACK, Sarah, DOBSON, Melanie J, COSTA, Teresa, LAM, Wan L, GREER, Wenda L

“…Factor VIII gene, F8, mutations cause haemophilia A (HA), an X-linked recessive disorder. Expression in heterozygous females has been ascribed to skewed…”
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Human X-chromosome inactivation pattern distributions fit a model of genetically influenced choice better than models of completely random choice by Renault, Nisa K E, Pritchett, Sonja M, Howell, Robin E, Greer, Wenda L, Sapienza, Carmen, Ørstavik, Karen Helene, Hamilton, David C

“…In eutherian mammals, one X-chromosome in every XX somatic cell is transcriptionally silenced through the process of X-chromosome inactivation (XCI). Females…”
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Multiplex Ligation-Dependent Probe Amplification Versus Multiprobe Fluorescence in Situ Hybridization To Detect Genomic Aberrations in Chronic Lymphocytic Leukemia: A Tertiary Center Experience by Al Zaabi, Eiman A, Fernandez, Louis A, Sadek, Irene A, Riddell, D. Christie, Greer, Wenda L

“…Cytogenetic abnormalities play a major role in the prognosis of patients with chronic lymphocytic leukemia (CLL). Several methods have emerged to try to best…”
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Detection of tyrosinase mRNA in the sentinel lymph nodes of melanoma patients is not a predictor of short-term disease recurrence by Tatlidil, Cuneyt, Parkhill, Winston S, Giacomantonio, Carman A, Greer, Wenda L, Morris, Steven F, Walsh, Noreen M G

“…Sentinel lymph node evaluation has enabled identification of patients with cutaneous melanoma who might benefit from elective regional lymph node dissection…”
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JAK2 V617F positive polycythemia Vera in a child with neurofibromatosis type I by Berman, Jason N., Greer, Wenda L., Archambeault, Sophie, Loh, Mignon L., Riddell, Christie, Morash, Barbara, Dumas, Nadine, Fernandez, Conrad V., Ludman, Mark D.

“…We report a child with polycythemia vera (PV). This patient demonstrates the acquired somatic JAK2 V617F mutation and also has neurofibromatosis type I (NF1)…”
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Case of acute lymphoblastic leukemia presenting with t(14;18)/BCL2, t(8;14)/cMYC, and t(1;2)/FCGR2B by Greer, Wenda L., Lee, Christine L.Y., Callanan, Mary B., Zayed, Ekram, Sadek, Irene

“…The majority of follicular lymphoma and Burkitt's lymphoma are associated with reciprocal translocations involving BCL2 and cMYC, respectively. Unusual reports…”
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Concurrent acute lymphoblastic leukemia and juvenile pilocytic astrocytoma in a pediatric patient by KIM, Amanda L, FERNANDEZ, Conrad V, GREER, Wenda L, HOGG, David, LASSAM, Norman J, RESCH, Lothar

“…The concurrence of acute lymphoblastic leukemia (ALL) and an asymptomatic juvenile pilocytic astrocytoma is described. A 6-year-old boy without clinical…”
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FISH mapping and inter-Alu fingerprinting define the YAC contig map around the centromeric region of human chromosome 18 by Greer, W L, Dobson, M J, Neumann, P E, Girouard, G S, Sparrow, S M, Riddell, D C

“…Previous reports concerning the location of D18S44 with respect to the centromere have been ambiguous. Also, it has not been possible, based on formerly…”
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Novel splice‐site mutation in ATP8B1 results in atypical P rogressive F amilial I ntrahepatic C holestasis T ype 1 by Copeland, Emily, Renault, Nisa, Renault, Marc, Dyack, Sarah, Bulman, Dennis E, Bedard, Karen, Otley, Anthony, Magee, Fergall, Acott, Philip, Greer, Wenda L

“…Abstract Background and Aim Our objective was to identify the molecular genetic basis of an A lagille‐like condition not linked to JAG1 or NOTCH2 in two…”
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Hemophilia a Carriers Experience Errors and Deficiencies in Care Leading to Emotional and Behavioral Responses That Could Further Compromise Their Care by Renault, Nisa K E, Howell, Robin E, Robinson, Katherine Sue, Greer, Wenda L.

“…Introduction Through previous studies and conferences, it was noted that medical errors perceived by haemophilia A (HA) carriers often resulted in poor…”
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Limiting the Niemann-Pick type C critical region to a 1-cM interval by Gillan, T L, Byers, D M, Riddell, D C, Neumann, P E, Greer, W L

“…To refine the position of and isolate the gene responsible for Niemann-Pick Type II (NP Type II) disease, an autosomal, recessive neurodegenerative disorder…”
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Altered expression of leucocyte sialoglycoprotein in Wiskott-Aldrich syndrome is associated with a specific defect in O-glycosylation by Greer, W L, Higgins, E, Sutherland, D R, Novogrodsky, A, Brockhausen, I, Peacocke, M, Rubin, L A, Baker, M, Dennis, J W, Siminovitch, K A

“…The Wiskott-Aldrich syndrome (WAS) is an X-linked immune deficiency disorder characterized clinically by both lymphocyte and platelet dysfunction. Studies of…”
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Familial Essential Thrombocythemia Showing Spontaneous Megakaryocyte Colony Formation and Acquired JAK2 Mutations without a Germline Mutation in C-MPL or TPO by Higgs, Jillian R., Sadek, Irene, Neuman, Paul E., Ing, Vincent, Berman, Jason N., Greer, Wenda L.

“…Essential thrombocythemia (ET) is a chronic myeloproliferative disorder, characterized by increased proliferation of megakaryocytes and elevated platelet…”
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A Rare Case of JAK2 V617F Positive Polycythemia Vera in a Child with Neurofibromatosis Type I by Berman, Jason N., Greer, Wenda L., Loh, Mignon, Riddell, Christie, Morash, Barbara, Dumas, Nadine, Fernandez, Conrad V., Ludman, Mark

“…Polycythemia vera (PV), is a myeloproliferative disease (MPD) originating in a hematopoietic stem cell resulting in clonal expansion of erythroid progenitors…”
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