RAI1 variations in Smith–Magenis syndrome patients without 17p11.2 deletions

Por Girirajan, S, Elsas, L, Devriendt, K, Elsea, S
Publicado em 2005

Holoprosencephaly in deletions of proximal chromosome 14q.

Por Devriendt, K, Fryns, J P, Chen, C P
Publicado em 1998

Mental retardation, distinct craniofacial dysmorphism, and central nervous system malformation: confirmation of a syndrome.

Por Devriendt, K, D'Espallier, L, Fryns, J P
Publicado em 1996

Triplication of distal chromosome 10q

Por Devriendt, K., Matthijs, G., Holvoet, M., Schoenmakers, E., Fryns, J.
Publicado em 1999

Chromosome 15 maternal uniparental disomy and psychosis in Prader-Willi syndrome

Por Vogels, A, Matthijs, G, Legius, E, Devriendt, K, Fryns, J
Publicado em 2003

FOXD1 Duplication Causes Branchial Defects and Interacts with the TFAP2A Gene Implicated in the Branchio-Oculo-Facial Syndrome in Causing Eye Effects in Zebrafish

Por Balikova, I., Devriendt, K., Fryns, J.-P., Vermeesch, J.R.
Publicado em 2011

Oto-onycho-peroneal syndrome: confirmation of a syndrome.

Por Devriendt, K, Stoffelen, D, Pfeiffer, R, Leys, A, Fryns, J P
Publicado em 1998

Renal and urological tract malformations caused by a 22q11 deletion.

Por Devriendt, K, Swillen, A, Fryns, J P, Proesmans, W, Gewillig, M
Publicado em 1996

Proteinuria in a patient with the diaphragmatic hernia-hypertelorism-myopia-deafness syndrome: further evidence that the facio-oculo-acoustico-renal syndrome represents the same en...

Por Devriendt, K, Standaert, L, Van Hole, C, Devlieger, H, Fryns, J P
Publicado em 1998

Two adult females with a distinct familial mental retardation syndrome: non-progressive neurological symptoms with ataxia and hypotonia, similar facial appearance, hypergonadotroph...

Por Fryns, J P, Van Lingen, C, Devriendt, K, Legius, E, Raus, P
Publicado em 1998

Chromosome 22q11 deletion presenting as the Potter sequence.

Por Devriendt, K, Moerman, P, Van Schoubroeck, D, Vandenberghe, K, Fryns, J P
Publicado em 1997

Facial Characteristics and Olfactory Dysfunction: Two Endophenotypes Related to Nonsyndromic Cleft Lip and/or Palate

Por Roosenboom, J., Saey, I., Peeters, H., Devriendt, K., Claes, P., Hens, G.
Publicado no Biomed Res Int (2015)

The annual incidence of DiGeorge/velocardiofacial syndrome.

Por Devriendt, K, Fryns, J P, Mortier, G, van Thienen, M N, Keymolen, K
Publicado em 1998

Differences in Copy Number Variation between Discordant Monozygotic Twins as a Model for Exploring Chromosomal Mosaicism in Congenital Heart Defects

Por Breckpot, J., Thienpont, B., Gewillig, M., Allegaert, K., Vermeesch, J.R., Devriendt, K.
Publicado em 2012

Severe alport phenotype in a woman with two missense mutations in the same COL4A5 gene and preponderant inactivation of the X chromosome carrying the normal allele.

Por Guo, C, Van Damme, B, Vanrenterghem, Y, Devriendt, K, Cassiman, J J, Marynen, P
Publicado em 1995

Rothmund-Thomson syndrome: Immuno-osseous challenges

Por Meyts, I, De Somer, L, Bossuyt, X, Morren, M-A, Devriendt, K, Wouters, C
Publicado em 2011

Prader-Willi syndrome in a child with mosaic trisomy 15 and mosaic triplo-X: a molecular analysis.

Por Devriendt, K, Matthijs, G, Claes, S, Legius, E, Proesmans, W, Cassiman, J J, Fryns, J P
Publicado em 1997

Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS.

Por Swillen, A, Devriendt, K, Legius, E, Eyskens, B, Dumoulin, M, Gewillig, M, Fryns, J P
Publicado em 1997

Haploinsufficiency of the HOXA gene cluster, in a patient with hand-foot-genital syndrome, velopharyngeal insufficiency, and persistent patent Ductus botalli.

Por Devriendt, K, Jaeken, J, Matthijs, G, Van Esch, H, Debeer, P, Gewillig, M, Fryns, J P
Publicado em 1999

Autosomal dominant microcephaly—lymphoedema-chorioretinal dysplasia syndrome

Por CASTEELS, I, DEVRIENDT, K, LEYS, A, VAN CLEYNENBREUGE..., H, DEMAEREL, P, DE TAVERNIER, F, FRYNS, J
Publicado em 2001