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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P157 – 2542: Movement disorder, periventricular nodular heterotopia and putaminal hyperintensity due to an ARFGEF2 gene mutation von Yilmaz, S, Tekin, H, Eraslan, C, Serdaroğlu, G, Tekgul, H, Mancini, G.M.S, Gökben, S

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Lung disease in FLNA mutation: Confirmatory report von de Wit, M.C.Y, Tiddens, H.A.W.M, de Coo, I.F.M, Mancini, G.M.S

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Absence epilepsy and periventricular nodular heterotopia von de Wit, M.C.Y, Schippers, H.M, de Coo, I.F.M, Arts, W.F.M, Lequin, M.H, Brooks, A, Visser, G.H, Mancini, G.M.S

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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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Hereditary porencephaly: clinical and MRI findings in two Dutch families von Mancini, G.M.S, de Coo, I.F.M, Lequin, M.H, Arts, W.F

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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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Juvenile Hyaline Fibromatosis: Clinical Heterogeneity in Three Patients von Mancini, G.M.S., Stojanov, L., Willemsen, R., Kleijer, W.J., Huijmans, J.G.M., van Diggelen, O.P., de Klerk, J.B.C., Vuzevski, V.D., Oranje, A.P.

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DMO01 Cortical brain malformations: impact of clinical, neuroradiological and modern genetic classification von de Wit, M.C.Y, Lequin, M.H, de Coo, I.F.M, Brusse, E, Halley, D.J.J, van de Graaf, R, Dobyns, W.B, Schot, R, Verheijen, F.W, Mancini, G.M.S

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Distinctive Phenotypic Abnormalities Associated with Submicroscopic 21q22 Deletion Including DYRK1A von Oegema, R., de Klein, A., Verkerk, A.J., Schot, R., Dumee, B., Douben, H., Eussen, B., Dubbel, L., Poddighe, P.J., van der Laar, I., Dobyns, W.B., van der Spek, P.J., Lequin, M.H., de Coo, I.F.M., de Wit, M.-C.Y., Wessels, M.W., Mancini, G.M.S.

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Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families von Mancini, G.M.S., Catsman-Berrevoets, C.E., de Coo, I.F.M., Aarsen, F.K., Kamphoven, J.H.J., Huijmans, J.G., Duran, M., van der Knaap, M.S., Jakobs, C., Salomons, G.S.

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Brain abnormalities in a case of malonyl-CoA decarboxylase deficiency von de Wit, M.C.Y., de Coo, I.F.M., Verbeek, E., Schot, R., Schoonderwoerd, G.C., Duran, M., de Klerk, J.B.C., Huijmans, J.G.M., Lequin, M.H., Verheijen, F.W., Mancini, G.M.S.

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De novo variants in ATP2B1 lead to neurodevelopmental delay von Rahimi, M.J., Urban, N., Wegler, M., Sticht, H., Schaefer, M., Popp, B., Gaunitz, F., Morleo, M., Nigro, V., Maitz, S., Mancini, G.M.S., Ruivenkamp, C., Suk, E.K., Bartolomaeus, T., Merkenschlager, A., Koboldt, D., Bartholomew, D., Stegmann, A.P.A., Sinnema, M., Duynisveld, I., Salvarinova, R., Race, S., Vries, B.B.A. de, Trimouille, A., Naudion, S., Marom, D., Hamiel, U., Henig, N., Demurger, F., Rahner, N., Bartels, E., Hamm, J.A., Putnam, A.M., Person, R., Abou Jamra, R., Oppermann, H.

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ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria von Vetro, A., Nielsen, H.N., Holm, R., Hevner, R.F., Parrini, E., Powis, Z., Moller, R.S., Bellan, C., Simonati, A., Lesca, G., Helbig, K.L., Palmer, E.E., Mei, D., Ballardini, E., Haeringen, A. van, Syrbe, S., Leuzzi, V., Cioni, G., Curry, C.J., Costain, G., Santucci, M., Chong, K., Mancini, G.M.S., Clayton-Smith, J., Bigoni, S., Scheffer, I.E., Dobyns, W.B., Vilsen, B., Guerrini, R.

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Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism von Chopra, M., McEntagart, M., Clayton-Smith, J., Platzer, K., Shukla, A., Girisha, K.M., Kaur, A., Kaur, P., Pfundt, R., Veenstra-Knol, H., Mancini, G.M.S., Cappuccio, G., Brunetti-Pierri, N., Kortum, F., Hempel, M., Denecke, J., Lehman, A., Kleefstra, T., Stuurman, K.E., Wilke, M., Thompson, M.L., Bebin, E.M., Bijlsma, E.K., Hoffer, M.J.V., Peeters-Scholte, C., Slavotinek, A., Weiss, W.A., Yip, T., Hodoglugil, U., Whittle, A., Monda, J., Neira, J., Yang, S., Kirby, A., Pinz, H., Lechner, R., Sleutels, F., Helbig, I., McKeown, S., Helbig, K., Willaert, R., Juusola, J., Semotok, J., Hadonou, M., Short, J., Yachelevich, N., Lala, S., Fernandez-Jaen, A., Pelayo, J.P., Klockner, C., Kamphausen, S.B., Abou Jamra, R., Arelin, M., Innes, A.M., Niskakoski, A., Amin, S., Williams, M., Evans, J., Smithson, S., Smedley, D., Burca, A., Kini, U., Delatycki, M.B., Gallacher, L., Yeung, A., Pais, L., Field, M., Martin, E., Charles, P., Courtin, T., Keren, B., Iascone, M., Cereda, A., Poke, G., Abadie, V., Chalouhi, C., Parthasarathy, P., Halliday, B.J., Robertson, S.P., Lyonnet, S., Amiel, J., Gordon, C.T.

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Male patients affected by mosaic PCDH19 mutations: five new cases von Lange, I.M. de, 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., Kempen, M.J.A. van, Brilstra, E.H.

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Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies von Cheng, H.Y., Dharmadhikari, A.V., Varland, S., Ma, N., Domingo, D., Kleyner, R., Rope, A.F., Yoon, M., Stray-Pedersen, A., Posey, J.E., Crews, S.R., Eldomery, M.K., Akdemir, Z.C., Lewis, A.M., Sutton, V.R., Rosenfeld, J.A., Conboy, E., Agre, K., Xia, F., Walkiewicz, M., Longoni, M., High, F.A., Slegtenhorst, M.A. van, Mancini, G.M.S., Finnila, C.R., Haeringen, A. van, Hollander, N. den, Ruivenkamp, C., Naidu, S., Mahida, S., Palmer, E.E., Murray, L., Lim, D., Jayakar, P., Parker, M.J., Giusto, S., Stracuzzi, E., Romano, C., Beighley, J.S., Bernier, R.A., Kury, S., Nizon, M., Corbett, M.A., Shaw, M., Gardner, A., Barnett, C., Armstrong, R., Kassahn, K.S., Dijck, A. van, Vandeweyer, G., Kleefstra, T., Schieving, J., Jongmans, M.J., Vries, B.B.A. de, Pfundt, R., Kerr, B., Rojas, S.K., Boycott, K.M., Person, R., Willaert, R., Eichler, E.E., Kooy, R.F., Yang, Y.P., Wu, J.C., Lupski, J.R., Arnesen, T., Cooper, G.M., Chung, W.K., Gecz, J., Stessman, H.A.F., Meng, L.Y., Lyon, G.J.

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