Search Results - "Byerly, Kyna A"

False-positive XXY results by interphase FISH in cytogenetically normal XX individuals: two cases highlighting the necessity of additional laboratory follow-up by Ding, Qiliang, Bronson, Abigail L., Byerly, Kyna A., Essendrup, Anna A., Mitchell, Elyse B., Runke, Cassandra K., Rowsey, Ross A., Hoppman, Nicole L.

“…Interphase fluorescence in situ hybridization (FISH) is commonly used for rapid aneuploidy detection in clinical settings. While FISH-based aneuploidy…”
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Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder by Koemans, Tom S, Kleefstra, Tjitske, Chubak, Melissa C, Stone, Max H, Reijnders, Margot R F, de Munnik, Sonja, Willemsen, Marjolein H, Fenckova, Michaela, Stumpel, Connie T R M, Bok, Levinus A, Sifuentes Saenz, Margarita, Byerly, Kyna A, Baughn, Linda B, Stegmann, Alexander P A, Pfundt, Rolph, Zhou, Huiqing, van Bokhoven, Hans, Schenck, Annette, Kramer, Jamie M

“…Kleefstra syndrome, caused by haploinsufficiency of euchromatin histone methyltransferase 1 (EHMT1), is characterized by intellectual disability (ID), autism…”
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Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations by SCHIMMENTI, L. A, CUNLIFFE, H. E, BRADDOCK, S. R, MASUNO, M, IMAIZUMI, K, DEVRIENDT, K, ECCLES, M. R, MCNOE, L. A, WARD, T. A, FRENCH, M. C, SHIM, H. H, ZHANG, Y.-H, PROESMANS, W, LEYS, A, BYERLY, K. A

“…Renal-coloboma syndrome is a recently described autosomal dominant syndrome of abnormal optic nerve and renal development. Two families have been reported with…”
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Cranial nerve abnormalities in CHARGE association by Byerly, K A, Pauli, R M

“…Many children with the CHARGE association have facial paralysis and feeding and swallowing difficulties. Indeed, facial paralysis and pharyngeal incoordination…”
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PAX2 mutation in a patient with coloboma-ureteral-renal syndrome. • 623 by Schimmenti, Lisa A, Byerly, Kyna A, Braddock, Stephen R, Eccles, Michael R, Zhang, Yao-Hua, Shim, Heather H

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