PTPN11 mutations in LEOPARD syndrome von Legius, E, Schrander-Stumpel, C, Schollen, E, Pulles-Heintzberger, C, Gewillig, M, Fryns, J-P

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A novel MSX1 mutation in hypodontia von De Muynck, S., Schollen, E., Matthijs, G., Verdonck, A., Devriendt, K., Carels, C.

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Gross rearrangements in the MECP2 gene in three patients with rett syndrome: Implications for routine diagnosis of Rett syndrome von Schollen, E., Smeets, E., Deflem, E., Fryns, J.P., Matthijs, G.

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The Normal Phenotype of Pmm1-Deficient Mice Suggests that Pmm1 Is Not Essential for Normal Mouse Development von Cromphout, K., Vleugels, W., Heykants, L., Schollen, E., Keldermans, L., Sciot, R., D'Hooge, R., De Deyn, P. P., von Figura, K., Hartmann, D., Körner, C., Matthijs, G.

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CDG-Id caused by homozygosity for an ALG3 mutation due to segmental maternal isodisomy UPD3(q21.3-qter) von Schollen, E., Grünewald, S., Keldermans, L., Albrecht, B., Körner, C., Matthijs, G.

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Phosphomannose Isomerase Deficiency: A Carbohydrate-Deficient Glycoprotein Syndrome with Hepatic-Intestinal Presentation von Jaeken, Jaak, Matthijs, Gert, Saudubray, Jean-Marie, Dionisi-Vici, Carlo, Bertini, Enrico, de Lonlay, Pascale, Henri, Hugues, Carchon, Hubert, Schollen, Els, Van Schaftingen, Emile

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Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia) von Matthijs, G., Schollen, E., Bjursell, C., Erlandson, A., Freeze, H., Imtiaz, F., Kjaergaard, S., Martinsson, T., Schwartz, M., Seta, N., Vuillaumier-Barrot, S., Westphal, V., Winchester, B.

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Long-term evolution of eight Spanish patients with CDG type Ia: Typical and atypical manifestations von Pérez-Dueñas, B, García-Cazorla, A, Pineda, M, Poo, P, Campistol, J, Cusí, V, Schollen, E, Matthijs, G, Grunewald, S, Briones, P, Pérez-Cerdá, C, Artuch, R, Vilaseca, M.A

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Rett syndrome in females with CTS hot spot deletions: A disorder profile von Smeets, E., Terhal, P., Casaer, P., Peters, A., Midro, A., Schollen, E., van Roozendaal, K., Moog, U., Matthijs, G., Herbergs, J., Smeets, H., Curfs, L., Schrander-Stumpel, C., Fryns, J.P.

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Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency) von Schollen, E, Frank, C G, Keldermans, L, Reyntjens, R, Grubenmann, C E, Clayton, P T, Winchester, B G, Smeitink, J, Wevers, R A, Aebi, M, Hennet, T, Matthijs, G

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Conserved Oligomeric Golgi Complex Subunit 1 Deficiency Reveals a Previously Uncharacterized Congenital Disorder of Glycosylation Type II von Foulquier, François, Vasile, Eliza, Schollen, Els, Callewaert, Nico, Raemaekers, Tim, Quelhas, Dulce, Jaeken, Jaak, Mills, Philippa, Winchester, Bryan, Krieger, Monty, Annaert, Wim, Matthijs, Gert

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Increased recurrence risk in congenital disorders of glycosylation type Ia (CDG-Ia) due to a transmission ratio distortion von Schollen, E, Kjaergaard, S, Martinsson, T, Vuillaumier-Barrot, S, Dunoe, M, Keldermans, L, Seta, N, Matthijs, G

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Rett syndrome in adolescent and adult females: Clinical and molecular genetic findings von Smeets, E., Schollen, E., Moog, U., Matthijs, G., Herbergs, J., Smeets, H., Curfs, L., Schrander-Stumpel, C., Fryns, J.P.

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Unconventional intronic splice site mutation in SCN5A associates with cardiac sodium channelopathy von Rossenbacker, T, Schollen, E, Kuipéri, C, de Ravel, T J L, Devriendt, K, Matthijs, G, Collen, D, Heidbüchel, H, Carmeliet, P

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Congenital disorder of glycosylation (CDG) type Ie. A new patient von García‐Silva, M. T., Matthijs, G., Schollen, E., Cabrera, J. C., Pozo, J. Sanchez, Herreros, M. Martí, Simón, R., Maties, M., Hernández, E. Martín, Hennet, T., Briones, P.

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Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia von Briones, P., Vilaseca, M. A., Schollen, E., Ferrer, I., Maties, M., Busquets, C., Artuch, R., Gort, L., Marco, M., Schaftingen, E., Matthijs, G., Jaeken, J., Chabás, A.

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Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: An updated nomenclature for CDG von Aebi, M, Helenius, A, Schenk, B, Barone, R, Fiumara, A, Berger, Eg, Hennet, T, Imbach, T, Stutz, A, Bjursell, C, Uller, A, Wahlström, Jg, Briones, P, Cardo, E, Clayton, P, Winchester, B, Cormier-dalre, V, de Lonlay, P, Cuer, M, Dupré, T, Seta, N, de Koning, T, Dorland, L, de Loos, F, Kupers, L, Fabritz, L, Hasilik, M, Marquardt, T, Niehues, R, Freeze, H, Grünewald, S, Heykants, L, Jaeken, J, Matthijs, G, Schollen, E, Xkeir, G Keir, Kjaergaard, S, Schwartz, M, Skovby, F, Klein, A, Roussel, P, Körner, C, Lübke, T, Thiel, C, von Figura, K, Koscielak, J, Krasnewich, D, Lehle, L, Peters, V, Raab, M, Saether, O, Schachter, H, Van Schaftingen, E, Verbert, A, Vilaseca, A, Wevers, R, Yamashita, K

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Successful treatment of carbohydrate deficient glycoprotein syndrome type 1b with oral mannose von Hendriksz, C J, McClean, P, Henderson, M J, Keir, D G, Worthington, V C, Imtiaz, F, Schollen, E, Matthijs, G, Winchester, B G

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Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib) von Schollen, E., Dorland, L., de Koning, T.J., Van Diggelen, O.P., Huijmans, J.G.M., Marquardt, T., Babovic-Vuksanovic, D., Patterson, M., Imtiaz, F., Winchester, B., Adamowicz, M., Pronicka, E., Freeze, H., Matthijs, G.

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Mutations in PMM2 , a phosphomannomutase gene on chromosome 16p13 in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome) von Matthijs, Gert, Schollen, Els, Pardon, Els, Veiga-Da-Cunha, Maria, Jaeken, Jaak, Cassiman, Jean-Jacques, Schaftingen, Emile Van

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