Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations von Johnston, Jennifer J., Olivos-Glander, Isabelle, Killoran, Christina, Elson, Emma, Turner, Joyce T., Peters, Kathryn F., Abbott, Margaret H., Aughton, David J., Aylsworth, Arthur S., Bamshad, Michael J., Booth, Carol, Curry, Cynthia J., David, Albert, Dinulos, Mary Beth, Flannery, David B., Fox, Michelle A., Graham, John M., Grange, Dorothy K., Guttmacher, Alan E., Hannibal, Mark C., Henn, Wolfram, Hennekam, RaoulC.M., Holmes, Lewis B., Hoyme, H. Eugene, Leppig, Kathleen A., Lin, Angela E., MacLeod, Patrick, Manchester, David K., Marcelis, Carlo, Mazzanti, Laura, McCann, Emma, McDonald, Marie T., Mendelsohn, Nancy J., Moeschler, John B., Moghaddam, Billur, Neri, Giovanni, Newbury-Ecob, Ruth, Pagon, Roberta A., Phillips III, John A., Sadler, Laurie S., Stoler, Joan M., Tilstra, David, Walsh Vockley, Catherine M., Zackai, Elaine H., Zadeh, Touran M., Brueton, Louise, Black, Graeme Charles M., Biesecker, Leslie G.

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

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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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Velopharyngeal insufficiency, submucous cleft palate and a phonological disorder as the associated clinical features which led to the diagnosis of Jacobsen syndrome. Case report an... von Ysunza, Antonio, Shaheen, Kenneth, Aughton, David J, Micale, Mark A, Merson, Richard, Rutkowski, Kris

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Pseudohypoparathyroidism type 1A and morbid obesity in infancy von Dekelbab, Bassem H, Aughton, David J, Levine, Michael A

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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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Further delineation of Kabuki syndrome in 48 well-defined new individuals von Armstrong, Linlea, Moneim, Azza Abd El, Aleck, Kirk, Aughton, David J., Baumann, Clarisse, Braddock, Stephen R., Gillessen-Kaesbach, Gabriele, Graham Jr, John M., Grebe, Theresa A., Gripp, Karen W., Hall, Bryan D., Hennekam, Raoul, Hunter, Alasdair, Keppler-Noreuil, Kim, Lacombe, Didier, Lin, Angela E., Ming, Jeffrey E., Kokitsu-Nakata, Nancy Mizue, Nikkel, Sarah M., Philip, Nicole, Raas-Rothschild, Annick, Sommer, Annemarie, Verloes, Alain, Walter, Claudia, Wieczorek, Dagmar, Williams, Marc S., Zackai, Elaine, Allanson, Judith E.

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

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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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Member of the Ampakine class of memory enhancers prolongs the single channel open time of reconstituted AMPA receptors von Suppiramaniam, Vishnu, Bahr, Ben A., Sinnarajah, Srikumar, Owens, Kittra, Rogers, Gary, Yilma, Solomon, Vodyanoy, Vitaly

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Molecular and clinical analyses of greig cephalopolysyndactyly and pallister-hall syndromes : Robust phenotype prediction from the type and position of GL13 mutations von JOHNSTON, Jennifer J, OLIVOS-GLANDER, Isabelle, BOOTH, Carol, CURRY, Cynthia J, DAVID, Albert, DINULOS, Mary Beth, FLANNERY, David B, FOX, Michelle A, GRAHAM, John M, GRANGE, Dorothy K, GUTTMACHER, Alan E, HANNIBAL, Mark C, KILLORAN, Christina, HENN, Wolfram, HENNEKAM, Raoul C. M, HOLMES, Lewis B, EUGENE HOYME, H, LEPPIG, Kathleen A, LIN, Angela E, MACLEOD, Patrick, MANCHESTER, David K, MARCELIS, Carlo, MAZZANTI, Laura, ELSON, Emma, MCCANN, Emma, MCDONALD, Marie T, MENDELSOHN, Nancy J, MOESCHLER, John B, MOGHADDAM, Billur, NERI, Giovanni, NEWBURY-ECOB, Ruth, PAGON, Roberta A, PHILLIPS, John A, SADLER, Laurie S, TURNER, Joyce T, STOLER, Joan M, TILSTRA, David, WALSH VOCKLEY, Catherine M, ZACKAI, Elaine H, ZADEH, Touran M, BRUETON, Louise, BLACK, Graeme Charles M, BIESECKER, Leslie G, PETERS, Kathryn F, ABBOTT, Margaret H, AUGHTON, David J, AYLSWORTH, Arthur S, BAMSHAD, Michael J

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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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Cerebro-osseous-digital syndrome: Four new cases of a lethal skeletal dysplasia-distinct from Neu-Laxova syndrome von Elliott, Alison M., Gonzales, Marie, Hoeffel, Jean-Claude, Le Merrer, Martine, Maroteaux, Pierre, Encha-Razavi, Ferechte, Joye, Nicole, Berchel, Colette, Fliegel, Christian, Aughton, David J., Beaudry-Rodgers, Kelly, Hasteh, Farnez, Nerlich, Andreas G., Wilcox, William R., Rimoin, David L., Lachman, Ralph S., Freisinger, Peter

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

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In Reply: Omphalocele in Down Syndrome von AUGHTON, DAVID J., REDDY, VINAY N., DEWITTE, DAVID B., HARPER, CHERYL E., LORENZ, ROBERT P.

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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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