Cardiac conduction improvement in two heterozygotes for primary carnitine deficiency on l-carnitine supplementation von Sarafoglou, K, Tridgell, AHC, Bentler, K, Redlinger-Grosse, K, Berry, SA, Schimmenti, LA

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Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux von Sanyanusin, Phaikasame, Schimmenti, Lisa A, McNoe, Leslie A, Ward, Teresa A, Pierpont, Mary Ella M, Sullivan, Michael J, Dobyns, William B, Eccles, Michael R

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Renal-coloboma syndrome: a multi-system developmental disorder caused by PAX2 mutations von Eccles, Michael R, Schimmenti, Lisa A

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Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations von 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

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A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with maternally inherited cardiomyopathy von Silvestri, G, Santorelli, F M, Shanske, S, Whitley, C B, Schimmenti, L A, Smith, S A, DiMauro, S

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Platelet endothelial cell adhesion molecule, PECAM-1, modulates cell migration von Schimmenti, Lisa A., Yan, Horng-Chin, Madri, Joseph A., Albelda, Steven M.

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Renal-coloboma syndrome: report of a novel PAX2 gene mutation von Chung, Gary W., Edwards, Albert O., SchimentiI, Lisa A., Manligas, Glenda S., Zhang, Yao-hua, Ritter, Robert

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A Primer for Morpholino Use in Zebrafish von Bill, Brent R., Petzold, Andrew M., Clark, Karl J., Schimmenti, Lisa A., Ekker, Stephen C.

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Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of Renal-Coloboma syndrome von Schimmenti, Lisa A., Shim, Heather H., Wirtschafter, Jonathan D., Panzarino, Valerie A., Kashtan, Clifford E., Kirkpatrick, Susan J., Wargowski, David S., France, Thomas D., Michel, Eduard, Dobyns, William B.

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Evaluation of newborn screening bloodspot-based genetic testing as second tier screen for bedside newborn hearing screening von Schimmenti, Lisa A, Warman, Berta, Schleiss, Mark R, Daly, Kathleen A, Ross, Julie A, McCann, Mark, Jurek, Anne M, Berry, Susan A

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Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies von Schimmenti, Lisa A., Pierpont, Mary Ella, Carpenter, Becky L. M., Kashtan, Clifford E., Johnson, Max R., Dobyns, William B.

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Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma von Raca, Gordana, Jackson, Craig A., Kucinskas, Laimutis, Warman, Berta, Shieh, Joseph T.C., Schneider, Adele, Bardakjian, Tanya M., Schimmenti, Lisa A.

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Identification of Two Single Nucleotide Polymorphisms in Exon 8 of PAX2 von Shim, Heather H, Nakamura, Brooke N, Cantor, Rita M, Schimmenti, Lisa A

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Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia von Schimmenti, Lisa A., de la Cruz, June, Lewis, Richard Alan, Karkera, J.D., Manligas, Glenda S., Roessler, Erich, Muenke, Maximilian

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Infant with multiple congenital anomalies and deletion (9)(q34.3) von Schimmenti, Lisa A., Berry, Susan A., Tuchman, Mendel, Hirsch, Betsy

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Infant hearing loss and connexin testing in a diverse population von Schimmenti, Lisa A., Martinez, Ariadna, Telatar, Milhan, Lai, Chih-Hung, Shapiro, Nina, Fox, Michelle, Warman, Berta, McCarra, Matthew, Crandall, Barbara, Sininger, Yvonne, Grody, Wayne W., Palmer, Christina G.S.

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Mutation of the gene in a family with optic nerve colobomas, renal anomolies and vesicoureteral reflux von Sanyanusin, P, Schimmenti, L A, McNoe, T A, Ward, T A, Pierpont, M E, Sullivan, M J, Dobyns, W B, Eccles, M R

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Monosomy 9p24→pter and trisomy 5q31→qter: Case report and review of two cases von Schimmenti, Lisa A., Higgins, Rodney R., Mendelsohn, Nancy J., Casey, Timothy M., Steinberger, Julia, Mammel, Mark C., Wiesner, Georgia L.

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Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: further ophthalmologic delineation of the renal-coloboma syndrome von Schimmenti, Lisa A., Manligas, Glenda S., Sieving, Paul A.

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Attitudes of the broader hearing, deaf, and hard-of-hearing community toward genetic testing for deafness von Martinez, Ariadna, Linden, Joyce, Schimmenti, Lisa A, Palmer, Christina G S

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