Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA) von Koolen, D A, Nillesen, W M, Versteeg, M H A, Merkx, G F M, Knoers, N V A M, Kets, M, Vermeer, S, van Ravenswaaij, C M A, de Kovel, C G, Brunner, H G, Smeets, D, de Vries, B B A, Sistermans, E A

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Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis von van Bon, B W M, Koolen, D A, Borgatti, R, Magee, A, Garcia-Minaur, S, Rooms, L, Reardon, W, Zollino, M, Bonaglia, M C, De Gregori, M, Novara, F, Grasso, R, Ciccone, R, van Duyvenvoorde, H A, Aalbers, A M, Guerrini, R, Fazzi, E, Nillesen, W M, McCullough, S, Kant, S G, Marcelis, C L, Pfundt, R, de Leeuw, N, Smeets, D, Sistermans, E A, Wit, J M, Hamel, B C, Brunner, H G, Kooy, F, Zuffardi, O, de Vries, B B A

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Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammation von GARBERN, James Y, YOOL, Donald A, SHY, Michael E, KAMHOLZ, John A, GRIFFITHS, Ian R, MOORE, Gregory J, WILDS, Ian B, FAULK, Michael W, KLUGMANN, Matthias, NAVE, Klaus-Amin, SISTERMANS, Erik A, VAN DER KNAAP, Marjo S, BIRD, Thomas D

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Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome von Kleefstra, T, Smidt, M, Banning, M J G, Oudakker, A R, Van Esch, H, de Brouwer, A P M, Nillesen, W, Sistermans, E A, Hamel, B C J, de Bruijn, D, Fryns, J-P, Yntema, H G, Brunner, H G, de Vries, B B A, van Bokhoven, H

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Inhibition of TGFβ signaling decreases osteogenic differentiation of fibrodysplasia ossificans progressiva fibroblasts in a novel in vitro model of the disease von Micha, Dimitra, Voermans, Elise, Eekhoff, Marelise E.W, van Essen, Huib W, Zandieh-Doulabi, Behrouz, Netelenbos, Coen, Rustemeyer, Thomas, Sistermans, E.A, Pals, Gerard, Bravenboer, Nathalie

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Variable phenotypes associated with 10q23 microdeletions involving the PTEN and BMPR1A genes von Menko, FH, Kneepkens, CMF, De Leeuw, N, Peeters, EAJ, Van Maldergem, L, Kamsteeg, EJ, Davidson, R, Rozendaal, L, Lasham, CA, Peeters-Scholte, CMP, Jansweijer, MC, Hilhorst-Hofstee, Y, Gille, JJP, Heins, YM, Nieuwint, AWM, Sistermans, EA

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Benefit vs potential harm of genome‐wide prenatal cfDNA testing requires further investigation and should not be dismissed based on current data von Bekker, M. N., Henneman, L., Macville, M. V. E., Sistermans, E. A., Galjaard, R. J. H.

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Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation von Kleefstra, T, Yntema, H G, Oudakker, A R, Banning, M J G, Kalscheuer, V M, Chelly, J, Moraine, C, Ropers, H-H, Fryns, J-P, Janssen, I M, Sistermans, E A, Nillesen, W N, de Vries, L B A, Hamel, B C J, van Bokhoven, H

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Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands von Olde Keizer, Richelle A. C. M., Marouane, Abderrahim, Kerstjens-Frederikse, Wilhelmina S., Deden, A. Chantal, Lichtenbelt, Klaske D., Jonckers, Tinneke, Vervoorn, Marieke, Vreeburg, Maaike, Henneman, Lidewij, de Vries, Linda S., Sinke, Richard J., Pfundt, Rolph, Stevens, Servi J. C., Andriessen, Peter, van Lingen, Richard A., Nelen, Marcel, Scheffer, Hans, Stemkens, Daphne, Oosterwijk, Cor, van Amstel, Hans Kristian Ploos, de Boode, Willem P., van Zelst-Stams, Wendy A. G., Frederix, Geert W. J., Vissers, Lisenka E. L. M.

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Severe hypomyelination associated with increased levels of N-acetylaspartylglutamate in CSF von WOLF, N. I, WILLEMSEN, M. A. A. P, ENGELKE, U. F, VAN DER KNAAP, M. S, POUWELS, P. J. W, HARTING, I, ZSCHOCKE, J, SISTERMANS, E. A, RATING, D, WEVERS, R. A

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Pure subtelomeric microduplications as a cause of mental retardation von Ruiter, EM, Koolen, DA, Kleefstra, T, Nillesen, WM, Pfundt, R, De Leeuw, N, Hamel, BCJ, Brunner, HG, Sistermans, EA, De Vries, BBA

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3q29 Microdeletion Syndrome: Clinical and Molecular Characterization of a New Syndrome von Willatt, Lionel, Cox, James, Barber, John, Cabanas, Elisabet Dachs, Collins, Amanda, Donnai, Dian, FitzPatrick, David R., Maher, Eddy, Martin, Howard, Parnau, Josep, Pindar, Lesley, Ramsay, Jacqueline, Shaw-Smith, Charles, Sistermans, Erik A., Tettenborn, Michael, Trump, Dorothy, de Vries, Bert B.A., Walker, Kate, Raymond, F. Lucy

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Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease von SISTERMANS, E. A, DE COO, R. F. M, DE WIJS, I. J, VAN OOST, B. A

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Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1) von Kleefstra, T, Franken, CE, Arens, YHJM, Ramakers, GJA, Yntema, HG, Sistermans, EA, Hulsmans, CFCH, Nillesen, WN, Van Bokhoven, H, De Vries, BBA, Hamel, BCJ

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Mutations in noncoding regions of the proteolipid protein gene in Pelizaeus-Merzbacher disease von HOBSON, G. M, DAVIS, STOWELL, N. C, KOLODNY, E. H, SISTERMANS, E. A, DE COO, I. F. M, FUNANAGE, V. L, MARKS, H. G

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Imprinting Effect in Premature Ovarian Failure Confined to Paternally Inherited Fragile X Premutations von Hundscheid, Rubin D.L., Sistermans, Erik A., Thomas, Chris M.G., Braat, Didi D.M., Straatman, Huub, Kiemeney, Lambertus A.L.M., Oostra, Ben A., Smits, Arie P.T.

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Position effect on PLP1 may cause a subset of Pelizaeus-Merzbacher disease symptoms von Muncke, N, Wogatzky, B S, Breuning, M, Sistermans, E A, Endris, V, Ross, M, Vetrie, D, Catsman-Berrevoets, C E, Rappold, G

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MECP2 Mutation in a Boy with Severe Neonatal Encephalopathy: Clinical, Neuropathological and Molecular Findings von Geerdink, N., Rotteveel, J. J., Lammens, M., Sistermans, E. A., Heikens, G. T., Gabreëls, F. J. M., Mullaart, R. A., Hamel, B. C. J.

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A novel homozygous 5 bp deletion in FKBP10 causes clinically Bruck syndrome in an Indonesian patient von Setijowati, E.D, van Dijk, F.S, Cobben, J.M, van Rijn, R.R, Sistermans, E.A, Faradz, S.M.H, Kawiyana, S, Pals, G

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Ataxia with vitamin E deficiency: Biochemical effects of malcompliance with vitamin E therapy von SCHUELKE, M, FINCKH, B, SISTERMANS, E. A, AUSEMS, M. G. E. M, HÜBNER, C, VON MOERS, A

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