Characterizing large-scale glaciotectonic sediment deformation using electrical resistivity methods von Aylsworth, R L, Van Dam, R L, Larson, G J, Jessee, M A

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Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation von Legius, Eric, Messiaen, Ludwine, Wolkenstein, Pierre, Pancza, Patrice, Avery, Robert A., Berman, Yemima, Blakeley, Jaishri, Babovic-Vuksanovic, Dusica, Cunha, Karin Soares, Ferner, Rosalie, Fisher, Michael J., Friedman, Jan M., Gutmann, David H., Kehrer-Sawatzki, Hildegard, Korf, Bruce R., Mautner, Victor-Felix, Peltonen, Sirkku, Rauen, Katherine A., Riccardi, Vincent, Schorry, Elizabeth, Stemmer-Rachamimov, Anat, Stevenson, David A., Tadini, Gianluca, Ullrich, Nicole J., Viskochil, David, Wimmer, Katharina, Yohay, Kaleb, Gomes, Alicia, Jordan, Justin T., Mautner, Victor, Merker, Vanessa L., Smith, Miriam J., Stevenson, David, Anten, Monique, Aylsworth, Arthur, Baralle, Diana, Barbarot, Sebastien, Barker, Fred, Ben-Shachar, Shay, Bergner, Amanda, Bessis, Didier, Blanco, Ignacio, Cassiman, Catherine, Ciavarelli, Patricia, Clementi, Maurizio, Frébourg, Thierry, Giovannini, Marco, Halliday, Dorothy, Hammond, Chris, Hanemann, C.O., Hanson, Helen, Heiberg, Arvid, Joly, Pascal, Kalamarides, Michel, Karajannis, Matthias, Kroshinsky, Daniela, Larralde, Margarita, Lázaro, Conxi, Le, Lu, Link, Michael, Listernick, Robert, MacCollin, Mia, Mallucci, Conor, Moertel, Christopher, Mueller, Amy, Ngeow, Joanne, Oostenbrink, Rianne, Packer, Roger, Papi, Laura, Parry, Allyson, Peltonen, Juha, Pichard, Dominique, Poppe, Bruce, Rezende, Nilton, Rodrigues, Luiz Oswaldo, Rosser, Tena, Ruggieri, Martino, Serra, Eduard, Steinke-Lange, Verena, Stivaros, Stavros Michael, Taylor, Amy, Toelen, Jaan, Tonsgard, James, Trevisson, Eva, Upadhyaya, Meena, Varan, Ali, Wilson, Meredith, Wu, Hao, Zadeh, Gelareh, Huson, Susan M., Evans, D. Gareth, Plotkin, Scott R.

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Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes von Kondo, Shinji, Schutte, Brian C., Richardson, Rebecca J., Bjork, Bryan C., Knight, Alexandra S., Watanabe, Yoriko, Howard, Emma, Ferreira de Lima, Renata L.L., Daack-Hirsch, Sandra, Sander, Achim, McDonald-McGinn, Donna M., Zackai, Elaine H., Lammer, Edward J., Aylsworth, Arthur S., Ardinger, Holly H., Lidral, Andrew C., Pober, Barbara R., Moreno, Lina, Arcos-Burgos, Mauricio, Valencia, Consuelo, Houdayer, Claude, Bahuau, Michel, Moretti-Ferreira, Danilo, Richieri-Costa, Antonio, Dixon, Michael J., Murray, Jeffrey C.

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Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation von Plotkin, Scott R., Messiaen, Ludwine, Legius, Eric, Pancza, Patrice, Avery, Robert A., Blakeley, Jaishri O., Babovic-Vuksanovic, Dusica, Ferner, Rosalie, Fisher, Michael J., Friedman, Jan M., Giovannini, Marco, Gutmann, David H., Hanemann, Clemens Oliver, Kalamarides, Michel, Kehrer-Sawatzki, Hildegard, Korf, Bruce R., Mautner, Victor-Felix, MacCollin, Mia, Papi, Laura, Rauen, Katherine A., Riccardi, Vincent, Schorry, Elizabeth, Smith, Miriam J., Stemmer-Rachamimov, Anat, Stevenson, David A., Ullrich, Nicole J., Viskochil, David, Wimmer, Katharina, Yohay, Kaleb, Huson, Susan M., Wolkenstein, Pierre, Evans, Dafydd Gareth

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Nasal Airway Dysfunction in Children with Cleft Lip and Cleft Palate: Results of a Cross-Sectional Population-Based Study, with Anatomical and Surgical Considerations von Sobol, Danielle L., Allori, Alexander C., Carlson, Anna R., Pien, Irene J., Watkins, Stephanie E., Aylsworth, Arthur S., Meyer, Robert E., Pimenta, Luiz A., Strauss, Ronald P., Ramsey, Barry L., Raynor, Eileen, Marcus, Jeffrey R.

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Personal journeys to and in human genetics and dysmorphology von Schwartz, Charles E., Aylsworth, Arthur S., Allanson, Judith, Battaglia, Agatino, Carey, John C., Curry, Cynthia J., Davies, Kay E., Eichler, Evan E., Graham, John M., Hall, Bryan, Hall, Judith G., Holmes, Lewis B., Hoyme, H. Eugene, Hunter, Alasdair, Innis, Jeffrey, Johnson, John, Keppler‐Noreuil, Kim M., Leroy, Jules G., Moore, Cynthia, Nelson, David L., Neri, Giovanni, Opitz, John M., Picketts, David, Raymond, F. Lucy, Shalev, Stavit Allon, Stevenson, Roger E., Stumpel, Connie T. R. M., Sutherland, Grant, Viskochil, David H., Weaver, David D., Zackai, Elaine H.

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C-Type Natriuretic Peptide Plasma Levels Are Elevated in Subjects With Achondroplasia, Hypochondroplasia, and Thanatophoric Dysplasia von Olney, Robert C, Prickett, Timothy C. R, Espiner, Eric A, Mackenzie, William G, Duker, Angela L, Ditro, Colleen, Zabel, Bernhard, Hasegawa, Tomonobu, Kitoh, Hiroshi, Aylsworth, Arthur S, Bober, Michael B

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Genetic Studies of Autistic Disorder and Chromosome 7 von Ashley-Koch, A., Wolpert, C.M., Menold, M.M., Zaeem, L., Basu, S., Donnelly, S.L., Ravan, S.A., Powell, C.M., Qumsiyeh, M.B., Aylsworth, A.S., Vance, J.M., Gilbert, J.R., Wright, H.H., Abramson, R.K., DeLong, G.R., Cuccaro, M.L., Pericak-Vance, M.A.

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Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes von Rosenfeld, Jill A, Traylor, Ryan N, Schaefer, G Bradley, McPherson, Elizabeth W, Ballif, Blake C, Klopocki, Eva, Mundlos, Stefan, Shaffer, Lisa G, Aylsworth, Arthur S

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A Novel Approach to Dysmorphology to Enhance the Phenotypic Classification of Autism Spectrum Disorder in the Study to Explore Early Development von Shapira, Stuart K., Tian, Lin H., Aylsworth, Arthur S., Elias, Ellen R., Hoover-Fong, Julie E., Meeks, Naomi J. L., Souders, Margaret C., Tsai, Anne C.-H., Zackai, Elaine H., Alexander, Aimee A., Yeargin-Allsopp, Marshalyn, Schieve, Laura A.

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Prenatal Alcohol Exposure in Relation to Autism Spectrum Disorder: Findings from the Study to Explore Early Development (SEED) von Singer, Alison B., Aylsworth, Arthur S., Cordero, Christina, Croen, Lisa A., DiGuiseppi, Carolyn, Fallin, M. Daniele, Herring, Amy H., Hooper, Stephen R., Pretzel, Rebecca E., Schieve, Laura A., Windham, Gayle C., Daniels, Julie L.

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Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation von Koczkowska, Magdalena, Callens, Tom, Gomes, Alicia, Sharp, Angela, Chen, Yunjia, Hicks, Alesha D., Aylsworth, Arthur S., Azizi, Amedeo A., Basel, Donald G., Bellus, Gary, Bird, Lynne M., Blazo, Maria A., Burke, Leah W., Cannon, Ashley, Collins, Felicity, DeFilippo, Colette, Denayer, Ellen, Digilio, Maria C., Dills, Shelley K., Dosa, Laura, Greenwood, Robert S., Griffis, Cristin, Gupta, Punita, Hachen, Rachel K., Hernández-Chico, Concepción, Janssens, Sandra, Jones, Kristi J., Jordan, Justin T., Kannu, Peter, Korf, Bruce R., Lewis, Andrea M., Listernick, Robert H., Lonardo, Fortunato, Mahoney, Maurice J., Ojeda, Mayra Martinez, McDonald, Marie T., McDougall, Carey, Mendelsohn, Nancy, Miller, David T., Mori, Mari, Oostenbrink, Rianne, Perreault, Sebastién, Pierpont, Mary Ella, Piscopo, Carmelo, Pond, Dinel A., Randolph, Linda M., Rauen, Katherine A., Rednam, Surya, Rutledge, S. Lane, Saletti, Veronica, Schaefer, G. Bradley, Schorry, Elizabeth K., Scott, Daryl A., Shugar, Andrea, Siqveland, Elizabeth, Starr, Lois J., Syed, Ashraf, Trapane, Pamela L., Ullrich, Nicole J., Wakefield, Emily G., Walsh, Laurence E., Wangler, Michael F., Zackai, Elaine, Claes, Kathleen B. M., Wimmer, Katharina, van Minkelen, Rick, De Luca, Alessandro, Martin, Yolanda, Legius, Eric, Messiaen, Ludwine M.

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Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog von Solomon, Benjamin D, Bear, Kelly A, Wyllie, Adrian, Keaton, Amelia A, Dubourg, Christele, David, Veronique, Mercier, Sandra, Odent, Sylvie, Hehr, Ute, Paulussen, Aimee, Clegg, Nancy J, Delgado, Mauricio R, Bale, Sherri J, Lacbawan, Felicitas, Ardinger, Holly H, Aylsworth, Arthur S, Bhengu, Ntombenhle Louisa, Braddock, Stephen, Brookhyser, Karen, Burton, Barbara, Gaspar, Harald, Grix, Art, Horovitz, Dafne, Kanetzke, Erin, Kayserili, Hulya, Lev, Dorit, Nikkel, Sarah M, Norton, Mary, Roberts, Richard, Saal, Howard, Schaefer, G B, Schneider, Adele, Smith, Erika K, Sowry, Ellen, Spence, M Anne, Shalev, Stavit A, Steiner, Carlos E, Thompson, Elizabeth M, Winder, Thomas L, Balog, Joan Z, Hadley, Donald W, Zhou, Nan, Pineda-Alvarez, Daniel E, Roessler, Erich, Muenke, Maximilian

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A Population-Based Exploration of the Social Implications Associated with Cleft Lip and/or Palate von Glener, Adam D., Allori, Alexander C., Shammas, Ronnie L., Carlson, Anna R., Pien, Irene J., Aylsworth, Arthur S., Meyer, Robert, Pimenta, Luiz, Strauss, Ronald, Watkins, Stephanie, Marcus, Jeffrey R.

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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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Issues involved in the phenotypic classification of orofacial clefts ascertained through a state birth defects registry for the north carolina cleft outcomes study von Aylsworth, Arthur S., Allori, Alexander C., Pimenta, Luiz A., Marcus, Jeffrey R., Harmsen, Katherine G., Watkins, Stephanie E., Ramsey, Barry L., Strauss, Ronald P., Meyer, Robert E.

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ASPP2 deficiency causes features of 1q41q42 microdeletion syndrome von Zak, J, Vives, V, Szumska, D, Vernet, A, Schneider, J E, Miller, P, Slee, E A, Joss, S, Lacassie, Y, Chen, E, Escobar, L F, Tucker, M, Aylsworth, A S, Dubbs, H A, Collins, A T, Andrieux, J, Dieux-Coeslier, A, Haberlandt, E, Kotzot, D, Scott, D A, Parker, M J, Zakaria, Z, Choy, Y S, Wieczorek, D, Innes, A M, Jun, K R, Zinner, S, Prin, F, Lygate, C A, Pretorius, P, Rosenfeld, J A, Mohun, T J, Lu, X

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Long-Term Clinical and Holistic Outcomes in Children with Cleft Lip and/or Palate: A Multidisciplinary, Mixed-Methods Approach von Pien, Irene J., Sobol, Danielle L., Carlson, Anna R., Allori, Alexander C., Watkins, Stephanie, Aylsworth, Arthur S., Meyer, Robert, Pimenta, Luiz, Strauss, Ronald, Ramsey, Barry, Marcus, Jeffrey R.

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Mapping the Relationship between Dysmorphology and Cognitive, Behavioral, and Developmental Outcomes in Children with Autism Spectrum Disorder von Tian, Lin H., Wiggins, Lisa D., Schieve, Laura A., Yeargin‐Allsopp, Marshalyn, Dietz, Patricia, Aylsworth, Arthur S., Elias, Ellen R., Hoover‐Fong, Julie E., Meeks, Naomi J. L., Souders, Margaret C., Tsai, Anne C.‐H., Zackai, Elaine H., Alexander, Aimee A., Dowling, Nicole F., Shapira, Stuart K.

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Neural Tube Defects and Folate Pathway Genes: Family-Based Association Tests of Gene-Gene and Gene-Environment Interactions von Boyles, Abee L., Billups, Ashley V., Deak, Kristen L., Siegel, Deborah G., Mehltretter, Lorraine, Slifer, Susan H., Bassuk, Alexander G., Kessler, John A., Reed, Michael C., Nijhout, H. Frederik, George, Timothy M., Enterline, David S., Gilbert, John R., Speer, Marcy C., Aben, J., Aylsworth, A., Bodurtha, J., Brei, T., Buran, C., Iskandar, B., Ito, J., Lasarsky, N., Mack, P., Meeropol, E., Mackey, J., McLone, D., Oakes, W. J., Powell, C., Sawin, K., Walker, M., Worley, G.

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