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Results: 1-25/42
Authors:
Jaeken, J
Matthijs, G
Citation: J. Jaeken et G. Matthijs, Congenital disorders of glycosylation, ANN REV GEN, 2, 2001, pp. 129-151
Authors:
Hertz, JM
Juncker, I
Persson, U
Matthijs, G
Schmidtke, J
Petersen, MB
Kjeldsen, M
Gregersen, N
Citation: Jm. Hertz et al., Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome, HUM MUTAT, 18(2), 2001, pp. 141-148
Authors:
Scheffer, H
Cobben, JM
Matthijs, G
Wirth, B
Citation: H. Scheffer et al., Best practice guidelines for molecular analysis in spinal muscular atrophy, EUR J HUM G, 9(7), 2001, pp. 484-491
Authors:
Sobacchi, C
Frattini, A
Orchard, P
Porras, O
Tezcan, I
Andolina, M
Babul-Hirji, R
Baric, I
Canham, N
Chitayat, D
Dupuis-Girod, S
Ellis, I
Etzioni, A
Fasth, A
Fisher, A
Gerritsen, B
Gulino, V
Horwitz, E
Klamroth, V
Lanino, E
Mirolo, M
Musio, A
Matthijs, G
Nonomaya, S
Notarangelo, LD
Ochs, HD
Furga, AS
Valiaho, J
van Hove, JLK
Vihinen, M
Vujic, D
Vezzoni, P
Villa, A
Citation: C. Sobacchi et al., The mutational spectrum of human malignant autosomal recessive osteopetrosis, HUM MOL GEN, 10(17), 2001, pp. 1767-1773
Authors:
Heykants, L
Schollen, E
Grunewald, S
Matthijs, G
Citation: L. Heykants et al., Identification and localization of two mouse phosphomannomutase genes, Pmm1 and Pmm2, GENE, 270(1-2), 2001, pp. 53-59
Authors:
Drouin-Garraud, V
Belgrand, M
Grunewald, S
Seta, N
Dacher, JN
Henocq, A
Matthijs, G
Cormier-Daire, V
Frebourg, T
Saugier-Veber, P
Citation: V. Drouin-garraud et al., Neurological presentation of a congenital disorder of glycosylation CDG-Ia: Implications for diagnosis and genetic counseling, AM J MED G, 101(1), 2001, pp. 46-49
Authors:
de Lonlay, P
Seta, N
Barrot, S
Chabrol, B
Drouin, V
Gabriel, BM
Journel, H
Kretz, M
Laurent, J
Le Merrer, M
Leroy, A
Pedespan, D
Sarda, P
Villeneuve, N
Schmitz, J
van Schaftingen, E
Matthijs, G
Jaeken, J
Korner, C
Munnich, A
Saudubray, JM
Cormier-Daire, V
Citation: P. De Lonlay et al., A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases, J MED GENET, 38(1), 2001, pp. 14-19
Authors:
Schenk, B
Imbach, T
Frank, CG
Grubenmann, CE
Raymond, GV
Hurvitz, H
Raas-Rotschild, A
Luder, AS
Jaeken, J
Berger, EG
Matthijs, G
Hennet, T
Aebi, M
Citation: B. Schenk et al., MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If, J CLIN INV, 108(11), 2001, pp. 1687-1695
Authors:
Freson, K
Devriendt, K
Matthijs, G
Van Hoof, A
De Vos, R
Thys, C
Minner, K
Hoylaerts, MF
Vermylen, J
Van Geet, C
Citation: K. Freson et al., Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation, BLOOD, 98(1), 2001, pp. 85-92
Authors:
Hendriksz, CJ
McClean, P
Henderson, MJ
Keir, DG
Worthington, VC
Imtiaz, F
Schollen, E
Matthijs, G
Winchester, BG
Citation: Cj. Hendriksz et al., Successful treatment of carbohydrate deficient glycoprotein syndrome type 1b with oral mannose, ARCH DIS CH, 85(4), 2001, pp. 339-340
Authors:
de Ravel, TJL
Matthijs, G
Fryns, JP
Citation: Tjl. De Ravel et al., An unbalanced translocation 46,XX,+der(18)t(18;21)(q12.2;q11.2)mat,-21 associated with maternal isodisomy 18pter -> 18q12.2, ANN GENET, 44(2), 2001, pp. 63-66
Authors:
Grunewald, S
Schollen, E
Van Schaftingen, E
Jaeken, J
Matthijs, G
Citation: S. Grunewald et al., High residual activity of PMM2 in patients' fibroblasts: Possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency), AM J HU GEN, 68(2), 2001, pp. 347-354
Authors:
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
Citation: G. Matthijs et al., Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia), HUM MUTAT, 16(5), 2000, pp. 386-394
Authors:
Schollen, E
Dorland, L
de Koning, TJ
Van Diggelen, OP
Huijmans, JGM
Marquardt, T
Babovic-Vuksanovic, D
Patterson, M
Imtiaz, F
Winchester, B
Adamowicz, M
Pronicka, E
Freeze, H
Matthijs, G
Citation: E. Schollen et al., Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib), HUM MUTAT, 16(3), 2000, pp. 247-252
Authors:
Gerard, B
Ginet, N
Matthijs, G
Evrard, P
Baumann, C
Da Silva, F
Gerard-Blanluet, M
Mayer, M
Grandchamp, B
Elion, J
Citation: B. Gerard et al., Genotype determination at the survival motor neuron locus in a normal population and SMA carriers using competitive PCR and primer extension, HUM MUTAT, 16(3), 2000, pp. 253-263
Authors:
Schollen, E
Kjaergaard, S
Legius, E
Schwartz, M
Matthijs, G
Citation: E. Schollen et al., Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation inCDG-Ia (congenital disorders of glycosylation type Ia), EUR J HUM G, 8(5), 2000, pp. 367-371
Authors:
Matthijs, G
Citation: G. Matthijs, Congenital disorders of glycosylation, TRENDS BIOC, 25(9), 2000, pp. 428-428
Authors:
Aebi, M
Helenius, A
Schenk, B
Barone, R
Fiumara, A
Berger, EG
Hennet, T
Imbach, T
Stutz, A
Bjursell, C
Uller, A
Wahlstrom, JG
Briones, P
Cardo, E
Clayton, P
Winchester, B
Cormier-Daire, V
de Lonlay, P
Cuer, M
Dupre, T
Seta, N
de Koning, T
Dorland, L
de Loos, F
Kupers, L
Fabritz, L
Hasilik, M
Marquardt, T
Niehues, R
Freeze, H
Grunewald, S
Heykants, L
Jaeken, J
Matthijs, G
Schollen, E
Keir, G
Kjaergaard, S
Schwartz, M
Skovby, F
Klein, A
Roussel, P
Korner, C
Lubke, 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
Citation: M. Aebi et al., Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG, GLYCOBIOLOG, 10(6), 2000, pp. III-V
Authors:
Grunewald, S
Imbach, T
Huijben, K
Rubio-Gozalbo, ME
Verrips, A
de Klerk, JBC
Stroink, H
Andel, JFD
Van Hove, JLK
Wendel, U
Matthijs, G
Hennet, T
Jaeken, J
Wevers, RA
Citation: S. Grunewald et al., Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis, ANN NEUROL, 47(6), 2000, pp. 776-781
Authors:
Imbach, T
Grunewald, S
Schenk, B
Burda, P
Schollen, E
Wevers, RA
Jaeken, J
de Klerk, JBC
Berger, EG
Matthijs, G
Aebi, M
Hennet, T
Citation: T. Imbach et al., Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic, HUM GENET, 106(5), 2000, pp. 538-545
Authors:
Hes, F
Zewald, R
Peeters, T
Sijmons, R
Links, T
Verheij, J
Matthijs, G
Legius, E
Mortier, G
van der Torren, K
Rosman, M
Lips, C
Pearson, P
van der Luijt, R
Citation: F. Hes et al., Genotype-phenotype correlations in families with deletions in the von Hippel-Lindau (VHL) gene, HUM GENET, 106(4), 2000, pp. 425-431
Authors:
Potgieter, S
Matthijs, G
De Cock, P
Fryns, JP
Citation: S. Potgieter et al., Preaxial polydactyly type 1 and severe language deficit in maternal uniparental disomy of chromosome 7, EUR J PED, 159(12), 2000, pp. 929-929
Authors:
Thijs, V
Peeters, E
Theys, P
Matthijs, G
Robberecht, W
Citation: V. Thijs et al., Demographic characteristics and prognosis in a Flemish Amyotrophic LateralSclerosis population, ACT NEUR BE, 100(2), 2000, pp. 84-90
Authors:
Grunewald, S
Matthijs, G
Citation: S. Grunewald et G. Matthijs, Congenital Disorders of Glycosylation (CDG): A rapidly expanding group of neurometabolic disorders, NEUROPEDIAT, 31(2), 2000, pp. 57-59
Authors:
Frazier, RA
Matthijs, G
Davies, MC
Roberts, CJ
Schacht, E
Tendler, SJB
Citation: Ra. Frazier et al., Characterization of protein-resistant dextran monolayers, BIOMATERIAL, 21(9), 2000, pp. 957-966