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Results:
1-14
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Results: 14
Authors:
Van Pottelbergh, I
Goemaere, S
Nuytinck, L
De Paepe, A
Kaufman, JM
Citation: I. Van Pottelbergh et al., Association of the type I collagen alpha1 Sp1 polymorphism, bone density and upper limb muscle strength in community-dwelling elderly men, OSTEOPOR IN, 12(10), 2001, pp. 895-901
Authors:
Gardella, R
Nuytinck, L
Barlati, S
Van Acker, P
Tadini, G
De Paepe, A
Colombi, M
Citation: R. Gardella et al., Characterization of mutations leading to recessive dystrophic epidermolysis bullosa and Marfan syndrome in a single patient, CLIN EXP D, 26(8), 2001, pp. 710-713
Authors:
Megarbane, A
Ruchoux, MM
Loeys, B
Ayoub, N
Nuytinck, L
Citation: A. Megarbane et al., Short stature, abnormal face, joint laxity, dislocation, hernias, delayed bone age, and severe psychomotor retardation in two brothers: Previously undescribed MCA/MR syndrome, AM J MED G, 104(3), 2001, pp. 221-224
Authors:
Jansen, T
De Paepe, A
Nuytinck, L
Altmeyer, P
Citation: T. Jansen et al., Acrogeric phenotype in Ehlers-Danlos syndrome type IV attributed to a missense mutation in the COL3A1 gene, BR J DERM, 144(5), 2001, pp. 1086-1087
Authors:
Loeys, B
Nuytinck, L
Delvaux, I
De Bie, S
De Paepe, A
Citation: B. Loeys et al., Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome, ARCH IN MED, 161(20), 2001, pp. 2447-2454
Authors:
De Paepe, A
Nuytinck, L
Citation: A. De Paepe et L. Nuytinck, Heritable collagen disorders: From genotype to phenotype, ACT CLIN B, 56(1), 2001, pp. 10-16
Authors:
Blaszczyk, M
Depaepe, A
Nuytinck, L
Glinska-Ferenz, M
Jablonska, S
Citation: M. Blaszczyk et al., Acrogeria of the Gottron type in a mother and son, EUR J DERM, 10(1), 2000, pp. 36-40
Authors:
Nuytinck, L
Tukel, T
Kayserili, H
Apak, MY
De Paepe, A
Citation: L. Nuytinck et al., Glycine to tryptophan substitution in type I collagen in a patient with OItype III: a unique collagen mutation, J MED GENET, 37(5), 2000, pp. 371-375
Authors:
Mortier, GR
Weis, M
Nuytinck, L
King, LM
Wilkin, DJ
De Paepe, A
Lachman, RS
Rimoin, D
Eyre, DR
Cohn, DH
Citation: Gr. Mortier et al., Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder, J MED GENET, 37(4), 2000, pp. 263-271
Authors:
Mortier, G
Nuytinck, L
Craen, M
Renard, JP
Leroy, JG
De Paepe, A
Citation: G. Mortier et al., Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene, J MED GENET, 37(3), 2000, pp. 220-224
Authors:
Mortier, GR
Weis, M
Nuytinck, L
King, LM
Wilkin, DJ
DePaepe, A
Lachman, RS
Rimoin, D
Eyre, DR
Cohn, DH
Citation: Gr. Mortier et al., Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder (vol 37, pg 263, 2000), J MED GENET, 37(10), 2000, pp. 815-815
Authors:
Nuytinck, L
Freund, M
Lagae, L
Pierard, GE
Hermanns-Le, T
De Paepe, A
Citation: L. Nuytinck et al., Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen, AM J HU GEN, 66(4), 2000, pp. 1398-1402
Authors:
De Vos, M
Nuytinck, L
Verellen, C
De Paepe, A
Citation: M. De Vos et al., Preterm premature rupture of membranes in a patient with the hypermobilitytype of the Ehlers-Danlos syndrome - A case report, FETAL DIAGN, 14(4), 1999, pp. 244-247
Authors:
Nuytinck, L
Sayli, BS
Karen, W
De Paepe, A
Citation: L. Nuytinck et al., Prenatal diagnosis of osteogenesis imperfecta type I by COL1A1 null-alleletesting, PRENAT DIAG, 19(9), 1999, pp. 873-875
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