Cancer cell-selective induction of mitochondrial stress and immunogenic cell death by PT-112 in human prostate cell lines von Soler-Agesta, R, Moreno-Loshuertos, R, Yim, C Y, Congenie, M T, Ames, T D, Johnson, H L, Stossi, F, Mancini, M G, Mancini, M A, Ripollés-Yuba, C, Marco-Brualla, J, Junquera, C, Martínez-De-Mena, R, Enríquez, J A, Price, M R, Jimeno, J, Anel, A

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Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability von Reijnders, M. R. F., Kousi, M., van Woerden, G. M., Klein, M., Bralten, J., Mancini, G. M. S., van Essen, T., Proietti-Onori, M., Smeets, E. E. J., van Gastel, M., Stegmann, A. P. A., Stevens, S. J. C., Lelieveld, S. H., Gilissen, C., Pfundt, R., Tan, P. L., Kleefstra, T., Franke, B., Elgersma, Y., Katsanis, N., Brunner, H. G.

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Male patients affected by mosaic PCDH19 mutations: five new cases von de Lange, I. M., Rump, P., Neuteboom, R. F., Augustijn, P. B., Hodges, K., Kistemaker, A. I., Brouwer, O. F., Mancini, G. M. S., Newman, H. A., Vos, Y. J., Helbig, K. L., Peeters-Scholte, C., Kriek, M., Knoers, N. V., Lindhout, D., Koeleman, B. P. C., van Kempen, M. J. A., Brilstra, E. H.

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Systems level-based RNAi screening by high content analysis identifies UBR5 as a regulator of estrogen receptor-α protein levels and activity von Bolt, M J, Stossi, F, Callison, A M, Mancini, M G, Dandekar, R, Mancini, M A

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Polyglutamine-Expanded Androgen Receptors Form Aggregates That Sequester Heat Shock Proteins, Proteasome Components and SRC-1, and Are Suppressed by the HDJ-2 Chaperone von Stenoien, David L., Cummings, Chris J., Adams, Henry P., Mancini, Maureen G., Patel, Kavita, DeMartino, George N., Marcelli, Marco, Weigel, Nancy L., Mancini, Michael A.

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SPORADIC COL4A1 MUTATIONS WITH EXTENSIVE PRENATAL PORENCEPHALY RESEMBLING HYDRANENCEPHALY von MEUWISSEN, M. E. C, DE VRIES, L. S, WESSELS, M. W, MANCINI, G. M. S, VERBEEK, H. A, LEQUIN, M. H, GOVAERT, P. P, SCHOT, R, COWAN, F. M, HENNEKAM, R, RIZZU, P, VERHEIJEN, F. W

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FRAP reveals that mobility of oestrogen receptor-α is ligand- and proteasome-dependent von Mancini, Michael A, Stenoien, David L, Patel, Kavita, Mancini, Maureen G, Dutertre, Martin, Smith, Carolyn L, O'Malley, Bert W

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Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly von Breedveld, G, de Coo, I F, Lequin, M H, Arts, W F M, Heutink, P, Gould, D B, John, S W M, Oostra, B, Mancini, G M S

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Prenatal genetic confirmation of a COL4A1 mutation presenting with sonographic fetal intracranial hemorrhage von Lichtenbelt, K. D., Pistorius, L. R., De Tollenaer, S. M., Mancini, G. M., De Vries, L. S.

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Filamin A mutation, a common cause for periventricular heterotopia, aneurysms and cardiac defects von de Wit, M C Y, Kros, J M, Halley, D J J, de Coo, I F M, Verdijk, R, Jacobs, B C, Mancini, G M S

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Genotype-phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1 von van de Kamp, J.M., Errami, A., Howidi, M., Anselm, I., Winter, S., Phalin-Roque, J., Osaka, H., van Dooren, S.J.M., Mancini, G.M., Steinberg, S.J., Salomons, G.S.

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Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2) von Banka, S., Lederer, D., Benoit, V., Jenkins, E., Howard, E., Bunstone, S., Kerr, B., McKee, S., Lloyd, I.C., Shears, D., Stewart, H., White, S.M., Savarirayan, R., Mancini, G.M.S., Beysen, D., Cohn, R.D., Grisart, B., Maystadt, I., Donnai, D.

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Medullary Tegmental Cap Dysplasia: Fetal and Postnatal Presentations of a Unique Brainstem Malformation von Gafner, M, Garel, C, Leibovitz, Z, Valence, S, Krajden Haratz, K, Oegema, R, Mancini, G M S, Heron, D, Bueltmann, E, Burglen, L, Rodriguez, D, Huisman, T A G M, Lequin, M H, Arad, A, Kidron, D, Muqary, M, Gindes, L, Lev, D, Boltshauser, E, Lerman-Sagie, T

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Movement disorder and neuronal migration disorder due to ARFGEF2 mutation von de Wit, M. C. Y., de Coo, I. F. M., Halley, D. J. J., Lequin, M. H., Mancini, G. M. S.

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Systems level-based RNAi screening by high content analysis identifies UBR5 as a regulator of estrogen receptor-[alpha] protein levels and activity von Bolt, M J, Stossi, F, Callison, A M, Mancini, M G, Dandekar, R, Mancini, M A

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Clinical and molecular delineation of the 17q21.31 microdeletion syndrome von Koolen, D A, Sharp, A J, Hurst, J A, Firth, H V, Knight, S J L, Goldenberg, A, Saugier-Veber, P, Pfundt, R, Vissers, L E L M, Destrée, A, Grisart, B, Rooms, L, Van der Aa, N, Field, M, Hackett, A, Bell, K, Nowaczyk, M J M, Mancini, G M S, Poddighe, P J, Schwartz, C E, Rossi, E, De Gregori, M, Antonacci-Fulton, L L, McLellan, M D, Garrett, J M, Wiechert, M A, Miner, T L, Crosby, S, Ciccone, R, Willatt, L, Rauch, A, Zenker, M, Aradhya, S, Manning, M A, Strom, T M, Wagenstaller, J, Krepischi-Santos, A C, Vianna-Morgante, A M, Rosenberg, C, Price, S M, Stewart, H, Shaw-Smith, C, Brunner, H G, Wilkie, A O M, Veltman, J A, Zuffardi, O, Eichler, E E, de Vries, B B A

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Advanced genomic testing may aid in counseling of isolated agenesis of the corpus callosum on prenatal ultrasound von Wit, M.C., Boekhorst, F., Mancini, G.M., Smit, L.S., Groenenberg, I.A.L., Dudink, J., Vries, F.A.T., Go, A.T.J.I., Galjaard, R.J.H.

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Clinical features and X-inactivation in females heterozygous for creatine transporter defect von van de Kamp, JM, Mancini, GMS, Pouwels, PJW, Betsalel, OT, van Dooren, SJM, de Koning, I, Steenweg, ME, Jakobs, C, van der Knaap, MS, Salomons, GS

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NPT4, a new microsomal phosphate transporter: Mutation analysis in glycogen storage disease type Ic von Melis, D., Havelaar, A. C., Verbeek, E., Smit, G. P. A., Benedetti, A., Mancini, G. M. S., Verheijen, F.

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Megalencephaly and Perisylvian Polymicrogyria with Postaxial Polydactyly and Hydrocephalus (MPPH): Report of a New Case von Garavelli, L., Guareschi, E., Errico, S., Simoni, A., Bergonzini, P., Zollino, M., Gurrieri, F., Mancini, G. M., Schot, R., Van Der Spek, P. J., Frigieri, G., Zonari, P., Albertini, E., Giustina, E. Della, Amarri, S., Banchini, G., Dobyns, W. B., Neri, G.

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