Publications by authors named "Mark A Micale"

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Varieties of altered TFE3 can occur in MiT-family-related renal cell carcinomas.
Allison K Kennedy, Hassan D Kanaan, Kanika Arora, Harry Zhang, Jason M Hafron, Mark A Micale

Int Urol Nephrol· August 2025

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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.
Mark A Micale, Bedford Embrey, Jacqueline K Macknis, Cheryl E Harper, David J Aughton

Eur J Med Genet· December 2016

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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.
Antonio Ysunza, Kongkrit Chaiyasate, Mark A Micale, M Melissa McBrien, David A Bloom

Int J Pediatr Otorhinolaryngol· October 2014

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Macrocerebellum, epilepsy, intellectual disability, and gut malrotation in a child with a 16q24.1-q24.2 contiguous gene deletion.
Andrea H Seeley, Mark A Durham, Mark A Micale, Jeffrey Wesolowski, Bradley R Foerster

Am J Med Genet A· August 2014

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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.
Antonio Ysunza, Kenneth Shaheen, David J Aughton, Mark A Micale, Richard Merson

Int J Pediatr Otorhinolaryngol· September 2013

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Langerhans/dendritic cell sarcoma arising from hairy cell leukemia: a rare phenomenon.
Alaa Muslimani, Mohammad Muhsin Chisti, Ann Marie Blenc, Iqbal Boxwala, Mark A Micale

Ann Hematol· September 2012

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Composite biclonal marginal zone lymphoma of lung and chronic lymphocytic leukemia: pathologic, phenotypic, cytogenetic, and molecular study.
Sharathkumar Bhagavathi, Mark A Micale, Vonda Douglas-Nikitin, Samer Ballouz, Kurt Neumann

Int J Surg Pathol· June 2011

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Mutations in CEP57 cause mosaic variegated aneuploidy syndrome.
Katie Snape, Sandra Hanks, Elise Ruark, Patricio Barros-Núñez, Anna Elliott, Mark A Micale

Nat Genet· June 2011

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Primary bone diffuse large B-cell lymphoma: clinicopathologic study of 21 cases and review of literature.
Sharathkumar Bhagavathi, Mark A Micale, Kimberly Les, Jon D Wilson, Michele L Wiggins

Am J Surg Pathol· October 2009

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Mosaic variegated aneuploidy without microcephaly: implications for cytogenetic diagnosis.
Mark A Micale, David Schran, Sean Emch, Thaddeus W Kurczynski, Nazneen Rahman

Am J Med Genet A· August 2007

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