Dominantly inherited cleft lip and palate.

Por De Paepe, A
Publicado em 1989

Psychosocial adaptation in adolescents and young adults with Marfan syndrome: an exploratory study.

Por Van Tongerloo, A, De Paepe, A
Publicado em 1998

Marfan syndrome.

Por De Paepe, A, Hennekam, R C
Publicado em 1997

Pharmacogenomics in Children: Advantages and Challenges of Next Generation Sequencing Applications

Por Vanakker, O. M., De Paepe, A.
Publicado em 2013

Attitudes of health care professionals toward carrier screening for cystic fibrosis. A review of the literature

Por Janssens, S., De Paepe, A., Borry, P.
Publicado em 2012

Glycine to tryptophan substitution in type I collagen in a patient with OI type III: a unique collagen mutation

Por Nuytinck, L., Tukel, T., Kayserili, H., Apak, M. Y., De Paepe, A.
Publicado em 2000

Met>Val substitution in a highly conserved region of the pro-α1(I) collagen C-propeptide domain causes alternative splicing and a mild EDS/OI phenotype

Por Symoens, S, Nuytinck, L, Legius, E, Malfait, F, Coucke, P, De Paepe, A
Publicado em 2004

Total absence of the α2(I) chain of collagen type I causes a rare form of Ehlers‐Danlos syndrome with hypermobility and propensity to cardiac valvular problems

Por Malfait, F, Symoens, S, Coucke, P, Nunes, L, De Almeida, S, De Paepe, A
Publicado em 2006

Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II.

Por De Paepe, A, Nuytinck, L, Hausser, I, Anton-Lamprecht, I, Naeyaert, J M
Publicado em 1997

Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene

Por MORTIER, G., NUYTINCK, L., CRAEN, M., RENARD, J., LEROY, J., DE PAEPE, A.
Publicado em 2000

Matrix proteins with high affinity for calcium ions are associated with mineralization within the elastic fibers of pseudoxanthoma elasticum dermis.

Por Contri, M. B., Boraldi, F., Taparelli, F., De Paepe, A., Ronchetti, I. P.
Publicado em 1996

Trisomy 3 mosaicism in a patient with Bartter syndrome.

Por De Keyser, F, Matthys, E, De Paepe, A, Verschraegen-Spae, M R, Matton, M
Publicado em 1988

Detection and characterisation of an overmodified type III collagen by analysis of non-cutaneous connective tissues in a patient with Ehlers-Danlos syndrome IV.

Por Nuytinck, L, Narcisi, P, Nicholls, A, Renard, J P, Pope, F M, De Paepe, A
Publicado em 1992

Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteoge...

Por Körkkö, J, Ala-Kokko, L, De Paepe, A, Nuytinck, L, Earley, J, Prockop, D J
Publicado em 1998

Genetic Counselling and Testing for Hereditary Breast and Ovarian Cancer: The Gent(le) Approach

Por De Vos, M., Poppe, B., Delvaux, I., Mortier, G., Claes, K., Messiaen, L., De Paepe, A.
Publicado em 1999

Characterisation of a glycine to valine substitution at amino acid position 910 of the triple helical region of type III collagen in a patient with Ehlers-Danlos syndrome type IV.

Por Richards, A J, Lloyd, J C, Ward, P N, De Paepe, A, Narcisi, P, Pope, F M
Publicado em 1991

Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13

Por Coucke, P, Wessels, M, Van Acker, P, Gardella, R, Barlati, S, Willems, P, Colombi, M, De Paepe, A
Publicado em 2003

Neonatal Marfan syndrome with congenital arachnodactyly, flexion contractures, and severe cardiac valve insufficiency.

Por Buntinx, I M, Willems, P J, Spitaels, S E, Van Reempst, P J, De Paepe, A M, Dumon, J E
Publicado em 1991

The impact of proband mediated information dissemination in families with a BRCA1/2 gene mutation

Por Sermijn, E, Goelen, G, Teugels, E, Kaufman, L, Bonduelle, M, Neyns, B, Poppe, B, De Paepe, A, De Greve, J
Publicado em 2004

Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder

Por Mortier, G., Weis, M., Nuytinck, L., King, L., Wilkin, D., De Paepe, A., Lachman, R., Rimoin, D., Eyre, D., Cohn, D.
Publicado em 2000