Fryns, J-P: search on Z-Library

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1

Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome

I. Balikova, A-E. Lehesjoki, T.J.L. de Ravel, B. Thienpont, K.E. Chandler, J. Clayton-Smith, A-L. Träskelin, J-P. Fryns, J.R. Vermeesch

Journal:

Year:

2009

Language:

english

File:

PDF, 254 KB

english, 2009

2

Ring syndrome caused by ring chromosome 7 without loss of subtelomeric sequences

JR Vermeesch, E Baten, J-P Fryns, K Devriendt

Journal:

Clinical Genetics

Year:

2002

Language:

english

File:

PDF, 113 KB

english, 2002

3

Autosomal dominant isolated velopharyngeal insufficiency

G Vantrappen, N Rommel, W Wellens, CWRJ Cremers, J-P Fryns, K Devriendt

Journal:

Clinical Genetics

Year:

2002

Language:

english

File:

PDF, 122 KB

english, 2002

4

Involvement of a palindromic chromosome 22-specific low-copy repeat in a constitutional t(X; 22)(q27;q11)

P Debeer, R Mols, C Huysmans, K Devriendt, WJM Van de Ven, J-P Fryns

Journal:

Clinical Genetics

Year:

2002

Language:

english

File:

PDF, 235 KB

english, 2002

5

X-linked mental retardation: vanishing boundaries between non-specific (MRX) and syndromic (MRXS) forms

SGM Frints, G Froyen, P Marynen, J-P Fryns

Journal:

Clinical Genetics

Year:

2002

Language:

english

File:

PDF, 208 KB

english, 2002

6

A study of the cognitive and psychological profile in 16 children with congenital or juvenile myotonic dystrophy

J. Steyaert, S. Umans, D. Willekens, E. Legius, E. Pijkels, C. de Die-Smulders, H. Van den Berghe, J-P. Fryns

Journal:

Clinical Genetics

Year:

1997

Language:

english

File:

PDF, 651 KB

english, 1997

7

ARX mutation in a boy with transsphenoidal encephalocele and hypopituitarism

H Van Esch, K Poirier, F de Zegher, M Holvoet, T Bienvenu, J Chelly, K Devriendt, J-P Fryns

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 490 KB

english, 2004

8

Detection of an unusual 17p13.3 microdeletion by array comparative genomic hybridisation in a patient with lissencephaly

E Chabchoub, T De Ravel, R Thoelen, JR Vermeesch, J-P Fryns, H Van Esch

Journal:

Clinical Genetics

Year:

2006

Language:

english

File:

PDF, 219 KB

english, 2006

9

Novel PORCN mutations in focal dermal hypoplasia

G Froyen, K Govaerts, H Van Esch, J Verbeeck, M-L Tuomi, H Heikkilä, S Torniainen, K Devriendt, J-P Fryns, P Marynen, I Järvelä, S Ala-Mello

Journal:

Clinical Genetics

Year:

2009

Language:

english

File:

PDF, 808 KB

english, 2009

10

DISC1 duplication in two brothers with autism and mild mental retardation

A Crepel, J Breckpot, J-P Fryns, W De la Marche, J Steyaert, K Devriendt, H Peeters

Journal:

Clinical Genetics

Year:

2010

Language:

english

File:

PDF, 563 KB

english, 2010

11

Physical map of a 1.5 Mb region on 12p11.2 harbouring a synpolydactyly associated chromosomal breakpoint

Debeer, Ph, Schoenmakers, E F P M, Thoelen, R, Holvoet, M, Kuittinen, T, Fabry, G, Fryns, J-P, Goodman, F R, Van de Ven, W J M

Journal:

European Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 323 KB

english, 2000

12

Acro-Osteolysis and Symphalangism Mutations

P Debeer, J-P Fryns

Journal:

Journal of Bone and Mineral Research

Year:

2005

Language:

english

File:

PDF, 33 KB

english, 2005

13

Holoprosencephaly and ZIC2 microdeletions: novel clinical and epidemiological specificities delineated

E Chabchoub, D Willekens, JR Vermeesch, J-P Fryns

Journal:

Clinical Genetics

Year:

2012

Language:

english

File:

PDF, 662 KB

english, 2012

14

17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction

Grisart, B, Willatt, L, Destree, A, Fryns, J-P, Rack, K, de Ravel, T, Rosenfeld, J, Vermeesch, J R, Verellen-Dumoulin, C, Sandford, R

Journal:

Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 313 KB

english, 2009

15

New MR/MCA syndrome with distinct facial appearance and general habitus, broad and webbed neck, hypoplastic inverted nipples, epilepsy, and pachygyria of the frontal lobes

Journal:

Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 1.06 MB

english, 2000

16

Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH)

Maas, N M C, Van Buggenhout, G, Hannes, F, Thienpont, B, Sanlaville, D, Kok, K, Midro, A, Andrieux, J, Anderlid, B-M, Schoumans, J, Hordijk, R, Devriendt, K, Fryns, J-P, Vermeesch, J R

Journal:

Journal of Medical Genetics

Year:

2007

Language:

english

File:

PDF, 1.20 MB

english, 2007

17

The facial dysmorphy in the newly recognised microdeletion 2p15-p16.1 refined to a 570 kb region in 2p15

Chabchoub, E, Vermeesch, J R, de Ravel, T, de Cock, P, Fryns, J-P

Journal:

Journal of Medical Genetics

Year:

2007

Language:

english

File:

PDF, 679 KB

english, 2007

18

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

Hannes, F D, Sharp, A J, Mefford, H C, de Ravel, T, Ruivenkamp, C A, Breuning, M H, Fryns, J-P, Devriendt, K, Van Buggenhout, G, Vogels, A, Stewart, H, Hennekam, R C, Cooper, G M, Regan, R, Knight, S

Journal:

Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 1.23 MB

english, 2009

19

Clinical and molecular characterization of patients with distal 11q deletions.

Penny, La, Dell'Aquila, M, Jones, M C, Bergoffen, J, Cunniff, C, Fryns, J-P, Grace, E, Graham, J M, Kousseff, B, Mattina, T, Syme, J, Voullaire, L, Zelante, L, Zenger-Hain, J, Jones, Ow, Evans, Ga

Journal:

The American Journal of Human Genetics

Year:

1995

Language:

english

File:

PDF, 1.51 MB

english, 1995

20

Correlations between molecular and clinical data in Huntington's disease and implications for predictive testing

Claes, S., Decruyenaere, M., Dom, R., Malfroid, M., Evers-Kiebooms, G., Baro, F., Godderis, J., Fryns, J-P., Cassiman, J-J.

Journal:

Acta Neuropsychiatrica

Year:

1995

File:

PDF, 12.89 MB

1995

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