Nevoid basal cell carcinoma (Gorlin) syndrome von Gorlin, Robert J.

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Germline mutations in PTEN are present in Bannayan-Zonana syndrome von Marsh, Debbie J, Dahia, Patricia L. M, Zheng, Zimu, Liaw, Danny, Parsons, Ramon, Gorlin, Robert J, Eng, Charis

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Autosomal Dominant Craniometaphyseal Dysplasia Is Caused by Mutations in the Transmembrane Protein ANK von Reichenberger, Ernst, Tiziani, Valdenize, Watanabe, Shoji, Park, Lucy, Ueki, Yasuyoshi, Santanna, Carla, Baur, Scott T., Shiang, Rita, Grange, Dorothy K., Beighton, Peter, Gardner, Jessica, Hamersma, Herman, Sellars, Sean, Ramesar, Rajkumar, Lidral, Andrew C., Sommer, Annmarie, Raposo do Amaral, Cassio M., Gorlin, Robert J., Mulliken, John B., Olsen, Bjorn R.

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Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease von Diaz, George A, Hernandez, Paolo A, Gorlin, Robert J, Lukens, John N, Taniuchi, Shoichiro, Bohinjec, Jo e, Francois, Fleur, Klotman, Mary E

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Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR von Black, Graeme C M, Ng, David, Thakker, Nalin, Corcoran, Connie M, Donnai, Dian, Perveen, Rahat, Schneider, Adele, Hadley, Donald W, Tifft, Cynthia, Zhang, Liqun, Wilkie, Andrew O M, van der Smagt, Jasper J, Gorlin, Robert J, Burgess, Shawn M, Bardwell, Vivian J, Biesecker, Leslie G

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A two-hit model for developmental defects in Gorlin syndrome von Levanat, Sonja, Gorlin, Robert J, Fallet, Shari, Johnson, Dennis R, Fantasia, John E, Bale, Alien E

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Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans von Newbury-Ecob, Ruth, Shears, Deborah J, Sutherland-Smith, Andrew J, Wilkie, Andrew O.M, Ørstavik, Karen H, Robertson, Stephen P, Horn, Denise, Quarrell, Oliver W.J, Gorlin, Robert J, Kenwrick, Susan J, Suri, Mohnish, Twigg, Stephen R.F, Biancalana, Valérie, Kim, Chong A, Schwartz, Charles E, Kendrick-Jones, John, Morava, Eva

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International collaborative study on ghost cell odontogenic tumours: calcifying cystic odontogenic tumour, dentinogenic ghost cell tumour and ghost cell odontogenic carcinoma von Ledesma-Montes, Constantino, Gorlin, Robert J., Shear, Mervyn, Præ´torius, Finn, Mosqueda-Taylor, Adalberto, Altini, Mario, Unni, Krishnan, Paes de Almeida, Oslei, Carlos-Bregni, Román, Romero de León, Elías, Phillips, Vince, Delgado-Azañero, Wilson, Meneses-García, Abelardo

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PTEN Mutation Spectrum and Genotype-Phenotype Correlations in Bannayan-Riley-Ruvalcaba Syndrome Suggest a Single Entity With Cowden Syndrome von Marsh, Debbie J., Kum, Jennifer B., Lunetta, Kathryn L., Bennett, Michael J., Gorlin, Robert J., Ahmed, S. Faisal, Bodurtha, Joann, Crowe, Carol, Curtis, Mary A., Dasouki, Majed, Dunn, Teresa, Feit, Howard, Geraghty, Michael T., Graham, John M., Hodgson, Shirley V., Hunter, Alasdair, Korf, Bruce R., Manchester, David, Miesfeldt, Susan, Murday, Victoria A., Nathanson, Katherine L., Parisi, Melissa, Pober, Barbara, Romano, Corrado, Tolmie, John L., Trembath, Richard, Winter, Robin M., Zackai, Elaine H., Zori, Roberto T., Weng, Liang-Ping, Dahia, Patricia L. M., Eng, Charis

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Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes von Zhou, Xiao-Ping, Hampel, Heather, Thiele, Hannelore, Gorlin, Robert J, Hennekam, Raoul CM, Parisi, Melissa, Winter, Robin M, Eng, Charis

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Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome von Faivre, Laurence, Dollfus, Hélène, Lyonnet, Stanislas, Alembik, Yves, Mégarbané, André, Samples, John, Gorlin, Robert J., Alswaid, Abdulrahman, Feingold, Josué, Le Merrer, Martine, Munnich, Arnold, Cormier-Daire, Valérie

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Syndromes, Syndromes, and More Syndromes von Gorlin, Robert J.

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Expanding the phenotype of SPONASTRIME dysplasia to include short dental roots, hypogammaglobulinemia, and cataracts von Gripp, Karen W., Johnson, Caitlyn, Scott, Charles I., Nicholson, Linda, Bober, Michael, Butler, Merlin G., Shaw, Linda, Gorlin, Robert J.

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Designation of the TARP syndrome and linkage to Xp11.23-q13.3 without samples from affected patients von Kurpinski, Kyle T., Magyari, Patricia A., Gorlin, Robert J., Ng, David, Biesecker, Leslie G.

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Multiple macrodontic multituberculism von Benjamin, Martinez R., Rodrigo, Fariña S., Gorlin, Robert J.

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New syndrome: Focal dermal hypoplasia, morning glory anomaly, and polymicrogyria von Giampietro, Philip F., Babu, Deepti, Koehn, Monica A., Jacobson, Daniel M., Mueller‐Schrader, Karla A., Moretti, Cara, Patten, Stella F., Shaffer, Lisa G., Gorlin, Robert J., Dobyns, William B.

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Otodental syndrome, oculo-facio-cardio-dental (OFCD) syndrome, and lobodontia: dental disorders of interest to the pediatric radiologist von Gorlin, R J

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And the Band Played On von Gorlin, Robert J.

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Germline Mutations in the PTEN/MMAC1 Gene in Patients With Cowden Disease von Nelen, Marcel R., van Staveren, Wilma C. G., Peeters, Els A. J., Ben Hassel, Mohammed, Gorlin, Robert J., Hamm, Henning, Lindboe, Christian F., Fryns, Jean-Pierre, Sijmons, Rolf H., Woods, D. Geoffrey, Mariman, Edwin C. M., Padberg, George W., Kremer, Hannie

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Mutation Spectrum and Genotype-Phenotype Analyses in Cowden Disease and Bannayan-Zonana Syndrome, Two Hamartoma Syndromes With Germline PTEN Mutation von Marsh, Debbie J., Coulon, Valérie, Lunetta, Kathryn L., Rocca-Serra, Philippe, Dahia, Patricia L. M., Zheng, Zimu, Liaw, Danny, Caron, Stacey, Duboué, Bernadette, Lin, Albert Y., Richardson, Anne-Louise, Bonnetblanc, Jean-Marie, Bressieux, Jean-Marie, Cabarrot-Moreau, Agnés, Chompret, Agnés, Demange, Liliane, Eeles, Rosalind A., Yahanda, Alan M., Fearon, Eric R., Fricker, Jean-Pierre, Gorlin, Robert J., Hodgson, Shirley V., Huson, Susan, Lacombe, Didier, LePrat, Frédéric, Odent, Sylvie, Toulouse, Claude, Olopade, Olufunmilayo I., Sobol, Hagay, Tishler, Sigrid, Woods, C. Geoffrey, Robinson, Bruce G., Weber, H. Christian, Parsons, Ramon, Peacocke, Monica, Longy, Michel, Eng, Charis

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