Noonan syndrome

Por Roberts, Amy E, Allanson, Judith E, Tartaglia, Marco, Gelb, Bruce D
Publicado no Lancet (2013)

Elements of Morphology: Introduction

Por Allanson, Judith E, Biesecker, Leslie G, Carey, John C, Hennekam, Raoul CM
Publicado em 2009

Elements of Morphology: Standard Terminology for the Head and Face

Por Allanson, Judith E., Cunniff, Christopher, Hoyme, H. Eugene, McGaughran, Julie, Muenke, Max, Neri, Giovanni
Publicado em 2009

Elements of Morphology: Standard Terminology for the External Genitalia

Por Hennekam, Raoul C.M., Allanson, Judith E., Biesecker, Leslie G., Carey, John C., Opitz, John M., Vilain, Eric
Publicado no Am J Med Genet A (2013)

Cardio-facio-cutaneous syndrome: Does genotype predict phenotype?

Por Allanson, Judith E, Annerén, Göran, Aoki, Yoki, Armour, Christine M, Bondeson, Marie-Louise, Cave, Helene, Gripp, Karen W, Kerr, Bronwyn, Nystrom, Anna-Maja, Sol-Church, Katia, Verloes, Alain, Zenker, Martin
Publicado em 2011

Supporting genetics in primary care: investigating how theory can inform professional education

Por Wilson, Brenda J, Islam, Rafat, Francis, Jill J, Grimshaw, Jeremy M, Permaul, Joanne A, Allanson, Judith E, Blaine, Sean, Graham, Ian D, Meschino, Wendy S, Ramsay, Craig R, Carroll, June C
Publicado no Eur J Hum Genet (2016)

The Face of Noonan Syndrome: Does Phenotype Predict Genotype

Por Allanson, Judith E., Bohring, Axel, Dorr, Helmuth-Guenther, Dufke, Andreas, Gillessen-Kaesbach, Gabrielle, Horn, Denise, König, Rainer, Kratz, Christian P., Kutsche, Kerstin, Pauli, Silke, Raskin, Salmo, Rauch, Anita, Turner, Anne, Wieczorek, Dagmar, Zenker, Martin
Publicado em 2010

SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia

Por Baker, Matt, Strongosky, Audrey J., Sanchez-Contreras, Monica Y., Yang, Shan, Ferguson, Will, Calne, Donald B., Calne, Susan, Stoessl, A. Jon, Allanson, Judith E., Broderick, Daniel F., Hutton, Michael L., Dickson, Dennis W., Ross, Owen A., Wszolek, Zbigniew K., Rademakers, Rosa
Publicado em 2013

Discriminating Power of Localized Three-Dimensional Facial Morphology

Por Hammond, Peter, Hutton, Tim J., Allanson, Judith E., Buxton, Bernard, Campbell, Linda E., Clayton-Smith, Jill, Donnai, Dian, Karmiloff-Smith, Annette, Metcalfe, Kay, Murphy, Kieran C., Patton, Michael, Pober, Barbara, Prescott, Katrina, Scambler, Pete, Shaw, Adam, Smith, Ann C. M., Stevens, Angela F., Temple, I. Karen, Hennekam, Raoul, Tassabehji, May
Publicado em 2005

Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27

Por Peddibhotla, Sirisha, Nagamani, Sandesh CS, Erez, Ayelet, Hunter, Jill V, Holder Jr, J Lloyd, Carlin, Mary E, Bader, Patricia I, Perras, Helene MF, Allanson, Judith E, Newman, Leslie, Simpson, Gayle, Immken, LaDonna, Powell, Erin, Mohanty, Aaron, Kang, Sung-Hae L, Stankiewicz, Pawel, Bacino, Carlos A, Bi, Weimin, Patel, Ankita, Cheung, Sau W
Publicado no Eur J Hum Genet (2015)

Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome

Por Kruszka, Paul, Li, Dong, Harr, Margaret H, Wilson, Nathan R, Swarr, Daniel, McCormick, Elizabeth M, Chiavacci, Rosetta M, Li, Mindy, Martinez, Ariel F, Hart, Rachel A, McDonald-McGinn, Donna M, Deardorff, Matthew A, Falk, Marni J, Allanson, Judith E, Hudson, Cindy, Johnson, John P, Saadi, Irfan, Hakonarson, Hakon, Muenke, Maximilian, Zackai, Elaine H
Publicado no J Med Genet (2014)

Proceedings from the 2009 Genetic Syndromes of the Ras/MAPK Pathway: From Bedside to Bench and Back

Por Rauen, Katherine A., Schoyer, Lisa, McCormick, Frank, Lin, Angela E., Allanson, Judith E., Stevenson, David A., Gripp, Karen W., Neri, Giovanni, Carey, John C., Legius, Eric, Tartaglia, Marco, Schubbert, Suzanne, Roberts, Amy E., Gelb, Bruce D., Shannon, Kevin, Gutmann, David H., McMahon, Martin, Guerra, Carmen, Fagin, James A., Yu, Benjamin, Aoki, Yoko, Neel, Ben G., Balmain, Allan, Drake, Richard R., Nolan, Garry P., Zenker, Martin, Bollag, Gideon, Sebolt-Leopold, Judith, Gibbs, Jackson B., Silva, Alcino J., Patton, E. Elizabeth, Viskochil, David H., Kieran, Mark W., Korf, Bruce R., Hagerman, Randi J., Packer, Roger J., Melese, Teri
Publicado em 2010

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

Por Nikkel, Sarah M, Dauber, Andrew, de Munnik, Sonja, Connolly, Meghan, Hood, Rebecca L, Caluseriu, Oana, Hurst, Jane, Kini, Usha, Nowaczyk, Malgorzata J M, Afenjar, Alexandra, Albrecht, Beate, Allanson, Judith E, Balestri, Paolo, Ben-Omran, Tawfeg, Brancati, Francesco, Cordeiro, Isabel, da Cunha, Bruna Santos, Delaney, Louisa A, Destrée, Anne, Fitzpatrick, David, Forzano, Francesca, Ghali, Neeti, Gillies, Greta, Harwood, Katerina, Hendriks, Yvonne M C, Héron, Delphine, Hoischen, Alexander, Honey, Engela Magdalena, Hoefsloot, Lies H, Ibrahim, Jennifer, Jacob, Claire M, Kant, Sarina G, Kim, Chong Ae, Kirk, Edwin P, Knoers, Nine V A M, Lacombe, Didier, Lee, Chung, Lo, Ivan F M, Lucas, Luiza S, Mari, Francesca, Mericq, Veronica, Moilanen, Jukka S, Møller, Sanne Traasdahl, Moortgat, Stephanie, Pilz, Daniela T, Pope, Kate, Price, Susan, Renieri, Alessandra, Sá, Joaquim, Schoots, Jeroen, Silveira, Elizabeth L, Simon, Marleen E H, Slavotinek, Anne, Temple, I Karen, van der Burgt, Ineke, de Vries, Bert B A, Weisfeld-Adams, James D, Whiteford, Margo L, Wierczorek, Dagmar, Wit, Jan M, Yee, Connie Fung On, Beaulieu, Chandree L, White, Sue M, Bulman, Dennis E, Bongers, Ernie, Brunner, Han, Feingold, Murray, Boycott, Kym M
Publicado em 2013