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1. Jaeken, J; Matthijs, G
   Congenital disorders of glycosylation
   ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS
   
   J. Jaeken e G. Matthijs, "Congenital disorders of glycosylation", ANN REV GEN, 2, 2001, pp. 129-151
2. Hertz, JM; Juncker, I; Persson, U; Matthijs, G; Schmidtke, J; Petersen, MB; Kjeldsen, M; Gregersen, N
   Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome
   HUMAN MUTATION
   
   J.M. 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
3. Scheffer, H; Cobben, JM; Matthijs, G; Wirth, B
   Best practice guidelines for molecular analysis in spinal muscular atrophy
   EUROPEAN JOURNAL OF HUMAN GENETICS
   
   H. Scheffer et al., "Best practice guidelines for molecular analysis in spinal muscular atrophy", EUR J HUM G, 9(7), 2001, pp. 484-491
4. 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
   The mutational spectrum of human malignant autosomal recessive osteopetrosis
   HUMAN MOLECULAR GENETICS
   
   C. Sobacchi et al., "The mutational spectrum of human malignant autosomal recessive osteopetrosis", HUM MOL GEN, 10(17), 2001, pp. 1767-1773
5. Heykants, L; Schollen, E; Grunewald, S; Matthijs, G
   Identification and localization of two mouse phosphomannomutase genes, Pmm1 and Pmm2
   GENE
   
   L. Heykants et al., "Identification and localization of two mouse phosphomannomutase genes, Pmm1 and Pmm2", GENE, 270(1-2), 2001, pp. 53-59
6. Drouin-Garraud, V; Belgrand, M; Grunewald, S; Seta, N; Dacher, JN; Henocq, A; Matthijs, G; Cormier-Daire, V; Frebourg, T; Saugier-Veber, P
   Neurological presentation of a congenital disorder of glycosylation CDG-Ia: Implications for diagnosis and genetic counseling
   AMERICAN JOURNAL OF MEDICAL GENETICS
   
   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
7. 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
   A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases
   JOURNAL OF MEDICAL GENETICS
   
   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
8. 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
   MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If
   JOURNAL OF CLINICAL INVESTIGATION
   
   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
9. Freson, K; Devriendt, K; Matthijs, G; Van Hoof, A; De Vos, R; Thys, C; Minner, K; Hoylaerts, MF; Vermylen, J; Van Geet, C
   Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation
   BLOOD
   
   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
10. Hendriksz, CJ; McClean, P; Henderson, MJ; Keir, DG; Worthington, VC; Imtiaz, F; Schollen, E; Matthijs, G; Winchester, BG
    Successful treatment of carbohydrate deficient glycoprotein syndrome type 1b with oral mannose
    ARCHIVES OF DISEASE IN CHILDHOOD
    
    C.J. Hendriksz et al., "Successful treatment of carbohydrate deficient glycoprotein syndrome type 1b with oral mannose", ARCH DIS CH, 85(4), 2001, pp. 339-340
11. de Ravel, TJL; Matthijs, G; Fryns, JP
    An unbalanced translocation 46,XX,+der(18)t(18;21)(q12.2;q11.2)mat,-21 associated with maternal isodisomy 18pter -> 18q12.2
    ANNALES DE GENETIQUE
    
    T.J.L. 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
12. Grunewald, S; Schollen, E; Van Schaftingen, E; Jaeken, J; Matthijs, G
    High residual activity of PMM2 in patients' fibroblasts: Possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency)
    AMERICAN JOURNAL OF HUMAN GENETICS
    
    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
13. 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
    Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)
    HUMAN MUTATION
    
    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
14. 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
    Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib)
    HUMAN MUTATION
    
    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
15. Gerard, B; Ginet, N; Matthijs, G; Evrard, P; Baumann, C; Da Silva, F; Gerard-Blanluet, M; Mayer, M; Grandchamp, B; Elion, J
    Genotype determination at the survival motor neuron locus in a normal population and SMA carriers using competitive PCR and primer extension
    HUMAN MUTATION
    
    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
16. Schollen, E; Kjaergaard, S; Legius, E; Schwartz, M; Matthijs, G
    Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation inCDG-Ia (congenital disorders of glycosylation type Ia)
    EUROPEAN JOURNAL OF HUMAN GENETICS
    
    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
17. Matthijs, G
    Congenital disorders of glycosylation
    TRENDS IN BIOCHEMICAL SCIENCES
    
    G. Matthijs, "Congenital disorders of glycosylation", TRENDS BIOC, 25(9), 2000, pp. 428-428
18. 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
    Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG
    GLYCOBIOLOGY
    
    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
19. 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
    Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis
    ANNALS OF NEUROLOGY
    
    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
20. 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
    Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic
    HUMAN GENETICS
    
    T. Imbach et al., "Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic", HUM GENET, 106(5), 2000, pp. 538-545
21. 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
    Genotype-phenotype correlations in families with deletions in the von Hippel-Lindau (VHL) gene
    HUMAN GENETICS
    
    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
22. Potgieter, S; Matthijs, G; De Cock, P; Fryns, JP
    Preaxial polydactyly type 1 and severe language deficit in maternal uniparental disomy of chromosome 7
    EUROPEAN JOURNAL OF PEDIATRICS
    
    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
23. Thijs, V; Peeters, E; Theys, P; Matthijs, G; Robberecht, W
    Demographic characteristics and prognosis in a Flemish Amyotrophic LateralSclerosis population
    ACTA NEUROLOGICA BELGICA
    
    V. Thijs et al., "Demographic characteristics and prognosis in a Flemish Amyotrophic LateralSclerosis population", ACT NEUR BE, 100(2), 2000, pp. 84-90
24. Grunewald, S; Matthijs, G
    Congenital Disorders of Glycosylation (CDG): A rapidly expanding group of neurometabolic disorders
    NEUROPEDIATRICS
    
    S. Grunewald e G. Matthijs, "Congenital Disorders of Glycosylation (CDG): A rapidly expanding group of neurometabolic disorders", NEUROPEDIAT, 31(2), 2000, pp. 57-59
25. Frazier, RA; Matthijs, G; Davies, MC; Roberts, CJ; Schacht, E; Tendler, SJB
    Characterization of protein-resistant dextran monolayers
    BIOMATERIALS
    
    R.A. Frazier et al., "Characterization of protein-resistant dextran monolayers", BIOMATERIAL, 21(9), 2000, pp. 957-966
26. Fletcher, JM; Matthijs, G; Jaeken, J; Van Schaftingen, E; Nelson, PV
    Carbohydrate-deficient glycoprotein syndrome: Beyond the screen
    JOURNAL OF INHERITED METABOLIC DISEASE
    
    J.M. Fletcher et al., "Carbohydrate-deficient glycoprotein syndrome: Beyond the screen", J INH MET D, 23(4), 2000, pp. 396-398
27. Imbach, T; Schenk, B; Schollen, E; Burda, P; Stutz, A; Grunewald, S; Bailie, NM; King, MD; Jaeken, J; Matthijs, G; Berger, EG; Aebi, M; Hennet, T
    Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie
    JOURNAL OF CLINICAL INVESTIGATION
    
    T. Imbach et al., "Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie", J CLIN INV, 105(2), 2000, pp. 233-239
28. Jamieson, CR; Fryns, JP; Jacobs, J; Matthijs, G; Abramowicz, MJ
    Primary autosomal recessive microcephaly: MCPH5 maps to 1q25-q32
    AMERICAN JOURNAL OF HUMAN GENETICS
    
    C.R. Jamieson et al., "Primary autosomal recessive microcephaly: MCPH5 maps to 1q25-q32", AM J HU GEN, 67(6), 2000, pp. 1575-1577
29. Matthijs, G; Schollen, E; Heykants, L; Grunewald, S
    Phosphomannomutase deficiency: The molecular basis of the classical Jaekensyndrome (CDGS type Ia)
    MOLECULAR GENETICS AND METABOLISM
    
    G. Matthijs et al., "Phosphomannomutase deficiency: The molecular basis of the classical Jaekensyndrome (CDGS type Ia)", MOL GEN MET, 68(2), 1999, pp. 220-226
30. Vansteenkiste, S; Matthijs, G; Schacht, E; De Schrijver, F; Van Damme, M; Vermeersch, J
    Synthesis and radical polymerization of pyrocarbonate-functionalized monomers: application to positive-tone photoresists
    MACROMOLECULAR RAPID COMMUNICATIONS
    
    S. Vansteenkiste et al., "Synthesis and radical polymerization of pyrocarbonate-functionalized monomers: application to positive-tone photoresists", MACRO RAPID, 20(6), 1999, pp. 333-336
31. Aguirre, T; Matthijs, G; Robberecht, W; Tilkin, P; Cassiman, JJ
    Mutational analysis of the Cu/Zn superoxide dismutase gene in 23 familial and 69 sporadic cases of amyotrophic lateral sclerosis in Belgium
    EUROPEAN JOURNAL OF HUMAN GENETICS
    
    T. Aguirre et al., "Mutational analysis of the Cu/Zn superoxide dismutase gene in 23 familial and 69 sporadic cases of amyotrophic lateral sclerosis in Belgium", EUR J HUM G, 7(5), 1999, pp. 599-602
32. Carchon, H; Van Schaftingen, E; Matthijs, G; Jaeken, J
    Carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase-deficiency)
    BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
    
    H. Carchon et al., "Carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase-deficiency)", BBA-MOL BAS, 1455(2-3), 1999, pp. 155-165
33. Pirard, M; Achouri, Y; Collet, JF; Schollen, E; Matthijs, G; Van Schaftingen, E
    Kinetic properties and tissular distribution of mammalian phosphomannomutase isozymes
    BIOCHEMICAL JOURNAL
    
    M. Pirard et al., "Kinetic properties and tissular distribution of mammalian phosphomannomutase isozymes", BIOCHEM J, 339, 1999, pp. 201-207
34. GONCALVES AM; SCHACHT E; MATTHIJS G; BARROS MRA; CABRAL JMS; GIL MH
    STABILITY STUDIES OF A RECOMBINANT CUTINASE IMMOBILIZED TO DEXTRAN AND DERIVATIZED SILICA SUPPORTS
    Enzyme and microbial technology
    
    A.M. Goncalves et al., "STABILITY STUDIES OF A RECOMBINANT CUTINASE IMMOBILIZED TO DEXTRAN AND DERIVATIZED SILICA SUPPORTS", Enzyme and microbial technology, 24(1-2), 1999, pp. 60-66
35. Simoni, M; Bakker, E; Eurlings, MCM; Matthijs, G; Moro, E; Muller, CR; Vogt, PH
    Laboratory guidelines for molecular diagnosis of Y-chromosomal microdeletions
    INTERNATIONAL JOURNAL OF ANDROLOGY
    
    M. Simoni et al., "Laboratory guidelines for molecular diagnosis of Y-chromosomal microdeletions", INT J ANDR, 22(5), 1999, pp. 292-299
36. Vansteenkiste, S; Matthijs, G; Schacht, E; De Schrijver, FC; Van Damme, M; Vermeersch, J
    Preparation of tailor-made multifunctional propenyl ethers by radical copolymerization of 2-(1-propenyl)oxyethyl methacrylate
    MACROMOLECULES
    
    S. Vansteenkiste et al., "Preparation of tailor-made multifunctional propenyl ethers by radical copolymerization of 2-(1-propenyl)oxyethyl methacrylate", MACROMOLEC, 32(1), 1999, pp. 55-59
37. Devriendt, K; Matthijs, G; Holvoet, M; Schoenmakers, E; Fryns, JP
    Triplication of distal chromosome 10q
    JOURNAL OF MEDICAL GENETICS
    
    K. Devriendt et al., "Triplication of distal chromosome 10q", J MED GENET, 36(3), 1999, pp. 242-245
38. Pirard, M; Matthijs, G; Heykants, L; Schollen, E; Grunewald, S; Jaeken, J; van Schaftingen, E
    Effect of mutations found in carbohydrate-deficient glycoprotein syndrome type IA on the activity of phosphomannomutase 2
    FEBS LETTERS
    
    M. Pirard et al., "Effect of mutations found in carbohydrate-deficient glycoprotein syndrome type IA on the activity of phosphomannomutase 2", FEBS LETTER, 452(3), 1999, pp. 319-322
39. Legius, E; Vanderschueren, D; Spiessens, C; D'Hooghe, T; Matthijs, G
    Association between CAG repeat number in the androgen receptor and male infertility in a Belgian study
    CLINICAL GENETICS
    
    E. Legius et al., "Association between CAG repeat number in the androgen receptor and male infertility in a Belgian study", CLIN GENET, 56(2), 1999, pp. 166-167
40. Devriendt, K; Jaeken, J; Matthijs, G; Van Esch, H; Debeer, P; Gewillig, M; Fryns, JP
    Haploinsufficiency of the HOXA gene cluster, in a patient with hand-foot-genital syndrome, velopharyngeal insufficiency, and persistent patent ductusbotalli
    AMERICAN JOURNAL OF HUMAN GENETICS
    
    K. Devriendt et al., "Haploinsufficiency of the HOXA gene cluster, in a patient with hand-foot-genital syndrome, velopharyngeal insufficiency, and persistent patent ductusbotalli", AM J HU GEN, 65(1), 1999, pp. 249-251
41. Devriendt, K; Matthijs, G; Van Dael, R; Gewillig, M; Eyskens, B; Hjalgrim, H; Dolmer, B; McGaughran, J; Brondum-Nielsen, K; Marynen, P; Fryns, JP; Vermeesch, JR
    Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1
    AMERICAN JOURNAL OF HUMAN GENETICS
    
    K. Devriendt et al., "Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1", AM J HU GEN, 64(4), 1999, pp. 1119-1126
42. PINGAULT V; BONDURAND N; KUHLBRODT K; GOERICH DE; PREHU MO; PULITI A; HERBARTH B; HERMANSBORGMEYER I; LEGIUS E; MATTHIJS G; AMIEL J; LYONNET S; CECCHERINI I; ROMEO G; SMITH JC; READ AP; WEGNER M; GOOSSENS M
    SOX10 MUTATIONS IN PATIENTS WITH WAARDENBURG-HIRSCHSPRUNG-DISEASE
    Nature genetics
    
    V. Pingault et al., "SOX10 MUTATIONS IN PATIENTS WITH WAARDENBURG-HIRSCHSPRUNG-DISEASE", Nature genetics, 18(2), 1998, pp. 171-173
43. FRESON K; PEERLINCK K; AGUIRRE T; ARNOUT J; VERMYLEN J; CASSIMAN JJ; MATTHIJS G
    FLUORESCENT CHEMICAL CLEAVAGE OF MISMATCHES FOR EFFICIENT SCREENING OF THE FACTOR-VIII GENE
    Human mutation
    
    K. Freson et al., "FLUORESCENT CHEMICAL CLEAVAGE OF MISMATCHES FOR EFFICIENT SCREENING OF THE FACTOR-VIII GENE", Human mutation, 11(6), 1998, pp. 470-479
44. MATTHIJS G; SCHOLLEN E; CASSIMAN JJ; CORMIERDAIRE V; JAEKEN J; VANSCHAFTINGEN E
    PRENATAL-DIAGNOSIS IN CDG1 FAMILIES - BEWARE OF HETEROGENEITY
    European journal of human genetics
    
    G. Matthijs et al., "PRENATAL-DIAGNOSIS IN CDG1 FAMILIES - BEWARE OF HETEROGENEITY", European journal of human genetics, 6(2), 1998, pp. 99-104
45. LEGIUS E; SCHOLLEN E; MATTHIJS G; FRYNS JP
    FINE MAPPING OF NOONAN CARDIO-FACIO-CUTANEOUS-SYNDROME IN A LARGE FAMILY/
    European journal of human genetics
    
    E. Legius et al., "FINE MAPPING OF NOONAN CARDIO-FACIO-CUTANEOUS-SYNDROME IN A LARGE FAMILY/", European journal of human genetics, 6(1), 1998, pp. 32-37
46. PINGAULT V; BONDURAND N; KUHLBRODT K; GOERICH DE; PREHU MO; PULITI A; LEMORT N; LEGIUS E; MATTHIJS G; AMIEL J; LYONNET S; CECCHERINI I; ROMEO G; CLAYTONSMITH J; READ AP; WEGNER M; GOOSSENS M
    MUTATIONS OF THE SOX10 GENE IN WAARDENBURG-HIRSCHSPRUNG-DISEASE
    European journal of human genetics
    
    V. Pingault et al., "MUTATIONS OF THE SOX10 GENE IN WAARDENBURG-HIRSCHSPRUNG-DISEASE", European journal of human genetics, 6, 1998, pp. 402-402
47. VANTINTELEN P; MATTHIJS G; BRAAM W; CASSIMAN JJ; DURAN M; POLLTHE BT
    HOMOZYGOSITY FOR THE F119L MUTATION IN THE PMM2 GENE IN AN ADULT WITHCDG SYNDROME TYPE IA
    European journal of human genetics
    
    P. Vantintelen et al., "HOMOZYGOSITY FOR THE F119L MUTATION IN THE PMM2 GENE IN AN ADULT WITHCDG SYNDROME TYPE IA", European journal of human genetics, 6, 1998, pp. 1097-1097
48. MATTHIJS G; SCHOLLEN E; SAUDUBRAY JM; DELONLAY P; DIONISIVICI C; BERTINI E; HENRI H; CASSIMAN JJ; JAEKEN J; VANSCHAFTINGEN E
    IDENTIFICATION OF THE GENETIC-DEFECT IN A VARIANT OF CDG SYNDROME TYPE-I - MUTATIONS IN THE PMI GENE RESULT IN A SEVERE, BUT POTENTIALLY TREATABLE DISORDER
    European journal of human genetics
    
    G. Matthijs et al., "IDENTIFICATION OF THE GENETIC-DEFECT IN A VARIANT OF CDG SYNDROME TYPE-I - MUTATIONS IN THE PMI GENE RESULT IN A SEVERE, BUT POTENTIALLY TREATABLE DISORDER", European journal of human genetics, 6, 1998, pp. 5006-5006
49. Bjursell, C; Wahlstrom, J; Berg, K; Stibler, H; Kristiansson, B; Matthijs, G; Martinsson, T
    Detailed mapping of the phosphomannomutase 2 (PMM2) gene and mutation detection enable improved analysis for Scandinavian CDG type I families
    EUROPEAN JOURNAL OF HUMAN GENETICS
    
    C. Bjursell et al., "Detailed mapping of the phosphomannomutase 2 (PMM2) gene and mutation detection enable improved analysis for Scandinavian CDG type I families", EUR J HUM G, 6(6), 1998, pp. 603-611
50. SCHOLLEN E; PARDON E; HEYKANTS L; RENARD J; DOGGETT NA; CALLEN DF; CASSIMAN JJ; MATTHIJS G
    COMPARATIVE-ANALYSIS OF THE PHOSPHOMANNOMUTASE GENES PMM1, PMM2 AND PMM2-PSI - THE SEQUENCE VARIATION IN THE PROCESSED PSEUDOGENE IS A REFLECTION OF THE MUTATIONS FOUND IN THE FUNCTIONAL GENE
    Human molecular genetics
    
    E. Schollen et al., "COMPARATIVE-ANALYSIS OF THE PHOSPHOMANNOMUTASE GENES PMM1, PMM2 AND PMM2-PSI - THE SEQUENCE VARIATION IN THE PROCESSED PSEUDOGENE IS A REFLECTION OF THE MUTATIONS FOUND IN THE FUNCTIONAL GENE", Human molecular genetics, 7(2), 1998, pp. 157-164
51. Al-Chalabi, A; Andersen, PM; Chioza, B; Shaw, C; Sham, PC; Robberecht, W; Matthijs, G; Camu, V; Marklund, SL; Forsgren, L; Rouleau, G; Laing, NG; Hurse, PV; Siddique, T; Leigh, PN; Powell, JF
    Recessive amyotrophic lateral sclerosis families with the D90A SOD1 mutation share a common founder: evidence for a linked protective factor
    HUMAN MOLECULAR GENETICS
    
    A. Al-Chalabi et al., "Recessive amyotrophic lateral sclerosis families with the D90A SOD1 mutation share a common founder: evidence for a linked protective factor", HUM MOL GEN, 7(13), 1998, pp. 2045-2050
52. MATTHIJS G; GRUENEWALD S; SCHOLLEN E; HEYKANTS L; PIRARD M; VANSCHAFTINGEN E
    THE PHOSPHOMANNOMUTASES IN HUMAN AND MOUSE - GENE STRUCTURE, EXPRESSION PATTERN AND ROLE IN DISEASE
    Glycobiology
    
    G. Matthijs et al., "THE PHOSPHOMANNOMUTASES IN HUMAN AND MOUSE - GENE STRUCTURE, EXPRESSION PATTERN AND ROLE IN DISEASE", Glycobiology, 8(11), 1998, pp. 46-46
53. DEVRIENDT K; MATTHIJS G; VANDAMME B; VANCAESBROECK D; ECCLES M; VANRENTERGHEM Y; FRYNS JP; LEYS A
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    Human genetics
    
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54. MATTHIJS G; DEVRIENDT K; FRYNS JP
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55. DEVRIENDT K; VANHOLE C; MATTHIJS G; DEZEGHER F
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    The New England journal of medicine
    
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56. KNIGHT SW; VULLIAMY TJ; HEISS NS; MATTHIJS G; DEVRIENDT K; CONNOR JM; DURSO M; POUSTKA A; MASON PJ; DOKAL I
    1.4 MB CANDIDATE GENE REGION FOR X-LINKED DYSKERATOSIS-CONGENITA DEFINED BY COMBINED HAPLOTYPE AND X-CHROMOSOME INACTIVATION ANALYSIS
    Journal of Medical Genetics
    
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57. BUITING K; DITTRICH B; GROSS S; LICH C; FARBER C; BUCHHOLZ T; SMITH E; REIS A; BURGER J; NOTHEN MM; BARTHWITTE U; JANSSEN B; ABELIOVICH D; LERER I; VANDENOUWELAND AMW; HALLEY DJJ; SCHRANDERSTUMPEL C; SMEETS H; MEINECKE P; MALCOLM S; GARDNER A; LALANDE M; NICHOLLS RD; FRIEND K; SCHULZE A; MATTHIJS G; KOKKONEN H; HILBERT P; VANMALDERGEM L; GLOVER G; CARBONELL P; WILLEMS P; GILLESSENKAESBACH G; HORSTHEMKE B
    SPORADIC IMPRINTING DEFECTS IN PRADER-WILLI-SYNDROME AND ANGELMAN-SYNDROME - IMPLICATIONS FOR IMPRINT-SWITCH MODELS, GENETIC-COUNSELING, AND PRENATAL-DIAGNOSIS
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58. JAEKEN J; MATTHIJS G; SAUDUBRAY JM; DIONISIVICI C; BERTINI E; DELONLAY P; HENRI H; CARCHON H; SCHOLLEN E; VANSCHAFTINGEN E
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59. MATTHIJS G; SCHOLLEN E; VANSCHAFTINGEN E; CASSIMAN JJ; JAEKEN J
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    American journal of human genetics
    
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60. MATTHIJS G
    MUTATIONS IN PMM2, A PHOSPHOMANNOMUTASE GENE ON CHROMOSOME 16P13, IN CARBOHYDRATE-DEFICIENT GLYCOPROTEIN TYPE-I SYNDROME (JAEKEN-SYNDROME) (VOL 16, PG 88, 1997)
    Nature genetics
    
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61. MATTHIJS G; SCHOLLEN E; PARDON E; VEIGADACUNHA M; JAEKEN J; CASSIMAN JJ; VANSCHAFTINGEN E
    MUTATIONS IN PMM2, A PHOSPHOMANNOMUTASE GENE ON CHROMOSOME 16P13, IN CARBOHYDRATE-DEFICIENT GLYCOPROTEIN TYPE-I SYNDROME (JAEKEN-SYNDROME)
    Nature genetics
    
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62. KROISEL PM; FRYNS JP; MATTHIJS G; BRONDUMNIELSEN K; VEJERSLEV L; VONKOSKULL H; GIRAUDON E; SAURA R; HELD K; MULLERREIBLE CR; METAXOTOU C; GENUARDI M; PIOMBO G; SCHNEIDER F; SMEETS D; VANDENOUWELAND A; PACHECO P; CORREIA H; BINKERT F; GABARRON J; GALLANO P; KRISTOFFERSSON U; ANVRET M; HOWELL R; STENHOUSE S
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63. MATTHIJS G; SCHOLLEN E; PIRARD M; BUDARF ML; VANSCHAFTINGEN E; CASSIMAN JJ
    PMM (PMM1), THE HUMAN HOMOLOG OF SEC53 OR YEAST PHOSPHOMANNOMUTASE, IS LOCALIZED ON CHROMOSOME 22Q13
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64. FRAZIER RA; DAVIES MC; MATTHIJS G; ROBERTS CJ; SCHACHT E; TENDLER SJB; WILLIAMS PM
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    Langmuir
    
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65. FRAZIER RA; DAVIES MC; MATTHIJS G; ROBERTS CJ; SCHACHT E; TENDLER SJB; WILLIAMS PM
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    Langmuir
    
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66. LAMMENS M; DEVRIENDT K; MATTHIJS G; SCHOLLEN E; VANHOLE C; DEVLIEGER H; FRIJNS JP; DOM R
    COMPLEX GENOMIC REARRANGEMENT IN THE SMA-REGION ON CHROMOSOME 5Q13 INA PATIENT WITH SEVERE CONGENITAL WERDNIG-HOFFMANN DISEASE
    Acta neurologica belgica
    
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67. DEVRIENDT K; PETIT P; MATTHIJS G; VERMEESCH JR; HOLVOET M; DEMUELENAERE A; MARYNEN P; CASSIMAN JJ; FRYNS JP
    TRISOMY-15 RESCUE WITH JUMPING TRANSLOCATION OF DISTAL 15Q IN PRADER-WILLI-SYNDROME
    Journal of Medical Genetics
    
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68. DEVRIENDT K; MATTHIJS G; CLAES S; LEGIUS E; PROESMANS W; CASSIMAN JJ; FRYNS JP
    PRADER-WILLI-SYNDROME IN A CHILD WITH MOSAIC TRISOMY-15 AND MOSAIC TRIPLO-X - A MOLECULAR ANALYSIS
    Journal of Medical Genetics
    
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69. JAEKEN J; MATTHIJS G; BARONE R; CARCHON H
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    Journal of Medical Genetics
    
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70. PIRARD M; COLLET JF; MATTHIJS G; VANSCHAFTINGEN E
    COMPARISON OF PMM1 WITH THE PHOSPHOMANNOMUTASES EXPRESSED IN RAT-LIVER AND IN HUMAN-CELLS
    FEBS letters
    
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71. SCHOLLEN E; VANDENBERK P; CASSIMAN JJ; MATTHIJS G
    DEVELOPMENT OF REVERSE DOT-BLOT SYSTEM FOR SCREENING OF MITOCHONDRIAL-DNA MUTATIONS ASSOCIATED WITH LEBER HEREDITARY OPTIC ATROPHY
    Clinical chemistry
    
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72. ROBBERECHT W; AGUIRRE T; VANDENBOSCH L; THEYS P; NEES H; CASSIMAN JJ; MATTHIJS G
    FAMILIAL JUVENILE FOCAL AMYOTROPHY OF THE UPPER EXTREMITY (HIRAYAMA DISEASE) - SUPEROXIDE-DISMUTASE-1 GENOTYPE AND ACTIVITY
    Archives of neurology
    
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73. DEVRIENDT K; NAULAERS G; MATTHIJS G; VANHOUDT K; DEVLIEGER H; GEWILLIG M
    AGENESIS OF CORPUS-CALLOSUM AND ANOPHTHALMIA IN THE ASPLENIA SYNDROME- A RECOGNIZABLE ASSOCIATION
    Annales de genetique
    
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74. MATTHIJS G; SCHOLLEN E; JAEKEN J; VANSCHAFTINGEN E; CASSIMAN JJ
    EXHAUSTIVE MUTATION ANALYSIS OF THE PMM2 GENE IN PATIENTS WITH THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I (CDG1 OR JAEKEN-SYNDROME) AND CLONING OF THE MOUSE PMM1 AND PMM2 GENES
    American journal of human genetics
    
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75. BJURSELL C; WAHLSTROM J; STIBLER H; KRISTIANSSON B; MATTHIJS G; MARTINSSON T
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    American journal of human genetics
    
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76. AGUIRRE T; VANDENBOSCH L; MATTHIJS G; CASSIMAN JJ; ROBBERECHT W
    SENSITIVITY TO OXIDATIVE STRESS OF FIBROBLASTS FROM PATIENTS FROM FAMILIAL AND SPORADIC AMYOTROPHIC-LATERAL-SCLEROSIS
    American journal of human genetics
    
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77. DEVRIENDT K; MATTHIJS G; LEGIUS E; SCHOLLEN E; BLOCKMANS D; VANGEET C; DEGREEF H; CASSIMAN JJ; FRYNS JP
    SKEWED X-CHROMOSOME INACTIVATION IN FEMALE CARRIERS OF DYSKERATOSIS-CONGENITA
    American journal of human genetics
    
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78. MATTHIJS G; CLAES S; LONGOMBENZA B; CASSIMAN JJ
    NON-SYNDROMIC DEAFNESS ASSOCIATED WITH A MUTATION AND A POLYMORPHISM IN THE MITOCHONDRIAL 12S RIBOSOMAL-RNA GENE IN A LARGE ZAIREAN PEDIGREE
    European journal of human genetics
    
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79. MATTHIJS G; LEGIUS E; SCHOLLEN E; VANDENBERK P; JAEKEN J; BARONE R; FIUMARA A; VISSER G; LAMBERT M; CASSIMAN JJ
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    Genomics
    
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80. TASKER S; MATTHIJS G; DAVIES MC; ROBERTS CJ; SCHACHT EH; TENDLER SJB
    MOLECULAR RESOLUTION IMAGING OF DEXTRAN MONOLAYERS IMMOBILIZED ON SILICA BY ATOMIC-FORCE MICROSCOPY
    Langmuir
    
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81. DEVRIENDT K; LAMMENS M; SCHOLLEN E; VANHOLE C; DOM R; DEVLIEGER H; CASSIMAN JJ; FRYNS JP; MATTHIJS G
    CLINICAL AND MOLECULAR-GENETIC FEATURES OF CONGENITAL SPINAL MUSCULAR-ATROPHY
    Annals of neurology
    
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82. MATTHIJS G; VANDENBERK P; LEGIUS E; JAEKEN J; CASSIMAN JJ
    CONFIRMATION OF LINKAGE OF CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-1 (CDG1) TO CHROMOSOME 16P13.13-P13.11 AND LINKAGE DISEQUILIBRIUM TO D16S414, D16S497 AND D16S519
    Cytogenetics and cell genetics
    
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83. ALTHERR MR; AUERBACH AD; BIGGS PO; BURN TC; BREUNING MH; PETERS DJM; TASCHNER P; GILES R; VANDERREIJDEN B; CALLEN DF; CLETONJANSEN AM; DANIELS R; DOGGETT NA; DORIONBONNET F; DRIOUCH K; GIBSON R; INGVARSSON S; KASTNER DL; KWITEKBLACK AE; LANDEGENT JE; LODER B; MATTHIJS G; MOLE SE; OLSSON PG; PORTER CJ; PRONK JC; RICKE DO; SANDFORD R; SAVOIA A; SICILIANO MJ; SOOD R
    REPORT OF THE 4TH INTERNATIONAL WORKSHOP ON HUMAN-CHROMOSOME-16 MAPPING 1995 - HELD ON 12-14 NOVEMBER 1995 AT THE UNIVERSITY-OF-LEIDEN, THENETHERLANDS
    Cytogenetics and cell genetics
    
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84. MATTHIJS G; SCHACHT E
    COMPARATIVE-STUDY OF METHODOLOGIES FOR OBTAINING BETA-GLUCOSIDASE IMMOBILIZED ON DEXTRAN-MODIFIED SILICA
    Enzyme and microbial technology
    
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85. ROBBERECHT W; AGUIRRE T; VANDENBOSCH L; TILKIN P; CASSIMAN JJ; MATTHIJS G
    D90A HETEROZYGOSITY IN THE SOD1 GENE IS ASSOCIATED WITH FAMILIAL AND APPARENTLY SPORADIC AMYOTROPHIC-LATERAL-SCLEROSIS
    Neurology
    
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86. ROBBERECHT W; AGUIRRE T; VANDENBOSSCH L; MATTHIJS G; CASSIMAN JJ
    HETEROZYGOSITY FOR THE D90A MUTATION IN THE SUPEROXIDE-DISMUTASE GENEIS ASSOCIATED WITH FAMILIAL AND APPARENTLY SPORADIC AMYOTROPHIC-LATERAL-SCLEROSIS
    Neurology
    
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87. MATTHIJS G; SCHOLLEN E; LEGIUS E; DEVRIENDT K; GOEMANS N; KAYSERILI H; APAK MY; CASSIMAN JJ
    UNUSUAL MOLECULAR FINDINGS IN AUTOSOMAL RECESSIVE SPINAL MUSCULAR-ATROPHY
    Journal of Medical Genetics
    
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88. MATTHIJS G; SCHACHT E
    DEXTRAN-COATED SILICA AND ITS BEHAVIOR IN HIGH-PERFORMANCE SIZE-EXCLUSION CHROMATOGRAPHY
    Journal of chromatography
    
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89. PEERLINCK K; MATTHIJS G; CASSIMAN JJ; VERMYLEN J
    INTRON 22 INVERSIONS OF THE FACTOR-VIII GENE IN BELGIAN PATIENTS WITHSEVERE HEMOPHILIA-A - PREVALENCE AND LACK OF RELATION WITH INHIBITOR STATUS
    Thrombosis and haemostasis
    
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90. ANTONARAKIS SE; ROSSITER JP; YOUNG M; HORST J; DEMOERLOOSE P; SOMMER SS; KETTERLING RP; KAZAZIAN HH; NEGRIER C; VINCIGUERRA C; GITSCHIER J; GOOSSENS M; GIRODON E; GHANEM N; PLASSA F; LAVERGNE JM; VIDAUD M; COSTA JM; LAURIAN Y; LIN SW; LIN SR; SHEN MC; LILLICRAP D; TAYLOR SAM; WINDSOR S; VALLEIX SV; NAFA K; SULTAN Y; DELPECH M; VNENCAKJONES CL; PHILLIPS JA; LJUNG RCR; KOUMBARELIS E; GIALERAKI A; MANDALAKI T; JENKINS PV; COLLINS PW; PASI KJ; GOODEVE A; PEAKE I; PRESTON FE; SCHWARTZ M; SCHEIBEL E; INGERSLEV J; COOPER DN; MILLAR DS; KAKKAR VV; GIANNELLI F; NAYLOR JA; TIZZANO EF; BAIGET M; DOMENECH M; ALTISENT C; TUSELL J; BENEYTO M; LORENZO JI; GAUCHER C; MAZURIER C; PEERLINCK K; MATTHIJS G; CASSIMAN JJ; VERMYLEN J; MORI PG; ACQUILA M; CAPRINO D; INABA H
    FACTOR-VIII GENE INVERSIONS IN SEVERE HEMOPHILIA-A - RESULTS OF AN INTERNATIONAL CONSORTIUM STUDY
    Blood
    
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91. SCHOLLEN E; DEMEIRSMAN C; MATTHIJS G; CASSIMAN JJ
    A REGULATORY ELEMENT IN THE 5'UTR DIRECTS CELL-SPECIFIC EXPRESSION OFTHE MOUSE ALPHA(4) GENE
    Biochemical and biophysical research communications
    
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92. MATTHIJS G; LEGIUS E; JAEKEN J; CASSIMAN JJ
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    American journal of human genetics
    
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93. DEMEIRSMAN C; SCHOLLEN E; JASPERS M; ONGENA K; MATTHIJS G; MARYNEN P; CASSIMAN JJ
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    DNA and cell biology
    
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94. AERSSENS J; CHAFFANET M; BAENS M; MATTHIJS G; VANDENBERGHE H; CASSIMAN JJ; MARYNEN P
    REGIONAL ASSIGNMENT OF 7 LOCI TO 12P13.2-PTER BY PCR ANALYSIS OF SOMATIC-CELL HYBRIDS CONTAINING THE DER(12) OR THE DER(X) CHROMOSOME FROM A MESOTHELIOMA SHOWING T(X12)(Q22P13)
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