In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome von Faivre, L, Gorlin, R J, Wirtz, M K, Godfrey, M, Dagoneau, N, Samples, J R, Le Merrer, M, Collod-Beroud, G, Boileau, C, Munnich, A, Cormier-Daire, V

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

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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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Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR von 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, Black, Graeme C M, Biesecker, Leslie G

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Of palms, soles, and gums 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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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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Fibroblast growth factors, their receptors and receptor disorders von Gorlin, R.J.

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

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Nevoid basal-cell carcinoma syndrome von Gorlin, R J

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Craniotubular bone disorders von GORLIN, R. J

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Melanotic neuroectodermal tumor of infancy. A reexamination of a histogenetic problem based on immunohistochemical, flow cytometric, and ultrastructural study of 10 cases von Pettinato, G, Manivel, J C, d'Amore, E S, Jaszcz, W, Gorlin, R J

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Microtia, absent patellae, short stature, micrognathia syndrome von GORLIN, R. J

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

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Noonan-like/multiple giant cell lesion syndrome von Cohen Jr, M. Michael, Gorlin, Robert J.

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Mulvihill-Smith syndrome: case report and review von Bartsch, O, Tympner, K D, Schwinger, E, Gorlin, R J

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