Search Results - "Micale, Mark A."

Mutations in CEP57 cause mosaic variegated aneuploidy syndrome by Snape, Katie, Hanks, Sandra, Ruark, Elise, Barros-Núñez, Patricio, Elliott, Anna, Murray, Anne, Lane, Andrew H, Shannon, Nora, Callier, Patrick, Chitayat, David, Clayton-Smith, Jill, FitzPatrick, David R, Gisselsson, David, Jacquemont, Sebastien, Asakura-Hay, Keiko, Micale, Mark A, Tolmie, John, Turnpenny, Peter D, Wright, Michael, Douglas, Jenny, Rahman, Nazneen

“…Nazneen Rahman and colleagues show that biallelic, loss-of-function mutations in CEP57 cause a constitutional mosaic aneuploidy syndrome. These findings show…”
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Mosaic variegated aneuploidy without microcephaly: Implications for cytogenetic diagnosis by Micale, Mark A., Schran, David, Emch, Sean, Kurczynski, Thaddeus W., Rahman, Nazneen, Van Dyke, Daniel L.

“…Mosaic variegated aneuploidy (MVA) is a rare condition characterized by multiple trisomies, rarely monosomies, and a non‐specific phenotype including…”
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Langerhans/dendritic cell sarcoma arising from hairy cell leukemia: a rare phenomenon by Muslimani, Alaa, Chisti, Mohammad Muhsin, Blenc, Ann Marie, Boxwala, Iqbal, Micale, Mark A., Jaiyesimi, Ishmael

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Constitutional 560.49 kb chromosome 2p24.3 duplication including the MYCN gene identified by SNP chromosome microarray analysis in a child with multiple congenital anomalies and bilateral wilms tumor by Micale, Mark A, Embrey, Bedford, Macknis, Jacqueline K, Harper, Cheryl E, Aughton, David J

“…Abstract Fewer than 100 patients with partial chromosome 2p trisomy have been reported. Clinical features are variable and depend on the size of the duplicated…”
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Primary Bone Diffuse Large B-cell Lymphoma: Clinicopathologic Study of 21 Cases and Review of Literature by BHAGAVATHI, Sharathkumar, MICALE, Mark A, LES, Kimberly, WILSON, Jon D, WIGGINS, Michele L, KAI FU

“…Primary bone diffuse large B-cell lymphomas (PB-DLBCL) are uncommon extranodal lymphomas. Herein, we report the clinical, pathologic, immunohistochemical, and…”
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Macrocerebellum, epilepsy, intellectual disability, and gut malrotation in a child with a 16q24.1-q24.2 contiguous gene deletion by Seeley, Andrea H., Durham, Mark A., Micale, Mark A., Wesolowski, Jeffrey, Foerster, Bradley R., Martin, Donna M.

“…Macrocerebellum is a rare condition characterized by enlargement of the cerebellum with conservation of the overall shape and cytoarchitecture. Here, we report…”
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Velopharyngeal insufficiency, submucous cleft palate and a phonological disorder as the associated clinical features which led to the diagnosis of Jacobsen syndrome. Case report and review of the literature by Ysunza, Antonio, Shaheen, Kenneth, Aughton, David J, Micale, Mark A, Merson, Richard, Rutkowski, Kris

“…Abstract Jacobsen syndrome is an uncommon but well-known contiguous gene syndrome caused by partial deletion involving the long arm of chromosome 11. Most…”
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22q11.2 deletion detected by endoscopic observation of pharyngeal pulsations in a child with submucous cleft palate and persistent velopharyngeal insufficiency by Ysunza, Antonio, Chaiyasate, Kongkrit, Micale, Mark A, McBrien, M. Melissa, Bloom, David A, Gibson, Donald P, Weinhouse, Elliott

“…Abstract 22q11.2 microdeletion syndrome (22q11.2DS) is the most common syndrome associated with cleft palate and velopharyngeal insufficiency (VPI). Over 180…”
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Composite Biclonal Marginal Zone Lymphoma of Lung and Chronic Lymphocytic Leukemia: Pathologic, Phenotypic, Cytogenetic, and Molecular Study by Bhagavathi, Sharathkumar, Micale, Mark A., Douglas-Nikitin, Vonda, Ballouz, Samer, Neumann, Kurt, Blenc, Ann Marie

“…The simultaneous diagnosis of marginal zone lymphoma of mucosa-associated lymphoid tissue (MALT) and chronic lymphocytic leukemia/small lymphocytic lymphoma…”
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Chromosome Breakage Hotspots and Delineation of the Critical Region for the 9p-Deletion Syndrome by Christ, Laurie A., Crowe, Carol A., Micale, Mark A., Conroy, Jeffrey M., Schwartz, Stuart

“…The clinical features of the 9p-deletion syndrome include dysmorphic facial features (trigonocephaly, midface hypoplasia, upward-slanting palpebral fissures,…”
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Xenografts of primary human prostatic carcinoma by Pretlow, T G, Wolman, S R, Micale, M A, Pelley, R J, Kursh, E D, Resnick, M I, Bodner, D R, Jacobberger, J W, Delmoro, C M, Giaconia, J M

“…Prostatic carcinoma is both the most common invasive cancer and the second most common cause of cancer deaths in men in the United States. Before 1991,…”
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The Effective Use of Fluorescence in situ Hybridization on Touch Preparation Slides Permits a Timely Diagnosis of Synovial Sarcoma: Lessons Learned by Toushan, Mazen, Zhang, Ping L., Ysell, Christopher, Macknis, Jacqueline, Amin, Mitual, Kannan, Hassan D., Micale, Mark A.

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The Effective Use of Fluorescence in situ Hybridization on Touch Preparation Slides Permits a Timely Diagnosis of Synovial Sarcoma: Lessons Learned by Toushan, Mazen, Zhang, Ping L, Ysell, Christopher, Macknis, Jacqueline, Amin, Mitual, Kannan, Hassan D, Micale, Mark A

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Significant cytogenomic evolution identified by SNP chromosome microarray analysis accompanies plasmablastic transformation of a hyperdiploid plasma cell myeloma by Micale, Mark A., Powers, Stephanie, Embrey, Bedford, Williams, Jacqueline, Burroughs, Michael, Huang, James Z.

“…Plasma cell myeloma (PCM) is a hematological malignancy involving clonal proliferation of plasma cells in bone marrow. It is the third most common…”
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An approach to definition of genetic alterations in prostate cancer by Wolman, S R, Macoska, J A, Micale, M A, Sakr, W A

“…Growth patterns in prostatic cancer can reduce detectability of genetic alterations. Tumors show histologic grade heterogeneity, multifocality, interdigitation…”
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Chromosomal aneuploidy in proliferative breast disease by Micale, M A, Visscher, D W, Gulino, S E, Wolman, S R

“…Although some forms of proliferative breast disease have been associated with increased risk of breast cancer, substantial confirmatory evidence that the…”
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Extensive genetic alterations in prostate cancer revealed by dual PCR and FISH analysis by Macoska, J A, Micale, M A, Sakr, W A, Benson, P D, Wolman, S R

“…The genetic alterations that underlie prostate tumorigenesis are assumed to comprise gain or loss of specific chromosomal regions, whole chromosomes, or…”
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Preparation of amniocytes for interphase fluorescence in situ hybridization (FISH) by Schwartz, S, Micale, M A, Becker, L

“…Although FISH has been used to clarify deletions or structural rearrangements, recent work has focused increasingly on its applications to interphase analysis…”
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Langerhans/dendritic cell sarcoma arising from hairy cell leukemia: a rare phenomenon by Muslimani, Alaa, Chisti, Mohammad Muhsin, Blenc, Ann Marie, Boxwala, Iqbal, Micale, Mark A, Jaiyesimi, Ishmael

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Pathological and biological relevance of cytophotometric DNA content to breast carcinoma genetic progression by Visscher, D W, Micale, M A, Crissman, J D

“…Correlating cytophotometrically detectable genetic alterations to events of known biological and pathological significance in breast carcinoma has been…”
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