Search Results - "Grange, D.K."

Prospective characterization of early symptom onset and progression in young pediatric patients with variants in the GLA gene across 5 years: Longitudinal data from the Fabry MOPPet Study by Laney, D.A., Houde, M.F., Foley, A.L., Peck, D.S., Atherton, A.M., Manwaring, L.P., Grange, D.K., Heese, B.A., Holida, M.D., Quillin, A.L., Vinson, R., Auray-Blais, C., Hopkin, R.J.

“…This prospective, longitudinal study was designed to determine the natural history of Fabry disease (FD) in early pediatric patients across the disease…”
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Utility of clinical high‐depth next generation sequencing for somatic variant detection in the PIK3CA‐related overgrowth spectrum by Hucthagowder, V., Shenoy, A., Corliss, M., Vigh‐Conrad, K.A., Storer, C., Grange, D.K., Cottrell, C.E.

“…Next‐generation sequencing (NGS) has revolutionized the approach of studying sequence variation, and has been well described in the clinical laboratory setting…”
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Intragenic CAMTA1 deletions are associated with a spectrum of neurobehavioral phenotypes by Shinawi, M., Coorg, R., Shimony, J.S., Grange, D.K., Al-Kateb, H.

“…Intragenic copy number variations involving the CAMTA1 (calmodulin‐binding transcription activator 1) gene have recently been reported in four unrelated…”
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Mild fumarase deficiency and a trial of low protein diet by Kimonis, V.E., Steller, J., Sahai, I., Grange, D.K., Shoemaker, J., Zelaya, B.M., Mandell, R., Shih, K., Shih, V.

“…We report clinical findings in a 12‐year-old girl with a mild case of fumarase deficiency who continues to make progress. She has two novel mutations of the…”
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TGIF Mutations in Human Holoprosencephaly: Correlation between Genotype and Phenotype by Keaton, A.A., Solomon, B.D., Kauvar, E.F., El-Jaick, K.B., Gropman, A.L., Zafer, Y., Meck, J.M., Bale, S.J., Grange, D.K., Haddad, B.R., Gowans, G.C., Clegg, N.J., Delgado, M.R., Hahn, J.S., Pineda-Alvarez, D.E., Lacbawan, F., Vélez, J.I., Roessler, E., Muenke, M.

“…Holoprosencephaly (HPE), which results from failed or incomplete midline forebrain division early in gestation, is the most common forebrain malformation. The…”
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