Large duplication in MTM1 associated with myotubular myopathy von Amburgey, K, Lawlor, M.W, del Gaudio, D, Cheng, Y.W, Fitzpatrick, C, Minor, A, Li, X, Aughton, D, Das, S, Beggs, A.H, Dowling, J.J

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Detection of deletions in de novo “balanced” chromosome rearrangements: Further evidence for their role in phenotypic abnormalities von Astbury, Caroline, Christ, Laurie A., Aughton, David J., Cassidy, Suzanne B., Kumar, Arun, Eichler, Evan E., Schwartz, Stuart

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X-linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male von Aughton, David J., Kelley, Richard I., Metzenberg, Aida, Pureza, Vincent, Pauli, Richard M.

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Delineation of complex chromosomal rearrangements: evidence for increased complexity von ASTBURY, Caroline, CHRIST, Laurie A, AUGHTON, David J, CASSIDY, Suzanne B, FUJIMOTO, Atsuko, PLETCHER, Beth A, SCHAFER, Irwin A, SCHWARTZ, Stuart

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Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children von Kleta, Robert, Aughton, David J., Rivkin, Michael J., Huizing, Marjan, Strovel, Erin, Anikster, Yair, Orvisky, Eduard, Natowicz, Marvin, Krasnewich, Donna, Gahl, William A.

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Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations von ROSENBERG, M. J, KILLORAN, C, GRAHAM, J. M, GRIX, A, GUTTMACHER, A. E, HUDGINS, L, KOZMA, C, MICHAELIS, R. C, PAULI, R, PETERS, K. F, ROSENBAUM, K. N, TIFFT, C. J, DZIADZIO, L, WARGOWSKI, D, WILLIAMS, M. S, BIESECKER, L. G, CHANG, S, STONE, D. L, MECK, J, AUGHTON, D, BIRD, L. M, BODURTHA, J, CASSIDY, S. B

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Molecular Characterization of Breakpoints in Patients with Holoprosencephaly and Definition of the HPE2 Critical Region 2p21 von Schell, Ute, Wienberg, Johannes, Köhler, Angelika, Bray-Ward, Patricia, Ward, Deeann E., Wilson, William G., Allen, William P., Lebel, Robert R., Sawyer, Jeffrey R., Campbell, Paul L., Aughton, David J., Punnett, Hope H., Lammer, Edward J., Kao, Fa-Ten, Ward, David C., Muenke, Maximilian

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Single maxillary central incisor in a girl with del(18p) syndrome von Aughton, D J, AlSaadi, A A, Transue, D J

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Commentary on ?Muir-Torre syndrome? by Tuncel et al von Aughton, D.

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Sonographic detection of hydrolethalus syndrome von Aughton, D

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Nasopharyngeal teratoma ('hairy polyp'), Dandy-Walker malformation, diaphragmatic hernia, and other anomalies in a female infant von Aughton, D J, Sloan, C T, Milad, M P, Huang, T E, Michael, C, Harper, C

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Down syndrome and omphalocele: an underrecognized association von Reddy, V N, Aughton, D J, DeWitte, D B, Harper, C E

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Müllerian duct abnormalities and galactosaemia heterozygosity: report of a family von Aughton, D J

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Transient elevation of sweat chloride concentration in a malnourished girl with the Mauriac syndrome von Polack, Fernando P., Transue, David J., Belknap, William M., Freij, Bishara J., Aughton, David J.

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Familial medial telangiectatic nevus : variant of nevus flammeus-port-wine stain von PASYK, K. A, WLODARCZYK, S. R, JAKOBCZAK, M. M, KUREK, M, AUGHTON, D. J

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Clinical outcome of fetuses with sonographic diagnosis of isolated micrognathia von Vettraino, Ivana M, Lee, Wesley, Bronsteen, Richard A, Harper, Cheryl E, Aughton, David, Comstock, Christine H

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Isolated bicuspid aortic valve in a newborn with Down syndrome von Aughton, D J, Weinhouse, E, Riggs, T W

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Isolated Bicuspid Aortic Valve in a Newborn With Down Syndrome von Weinhouse, Elliott, Riggs, Thomas W., Aughton, David J.

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Cholelithiasis in Infants with Down Syndrome: Three Cases and Literature Review von Aughton, David J., Gibson, Peter, Cacciarelli, Alexander

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Clinical anophthalmia, dextrocardia, and skeletal anomalies in an infant born to consanguineous parents von Aughton, David J.

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