Devriendt K - Search Results

1

A novel genomic disorder: a deletion of the SACS gene leading to spastic ataxia of Charlevoix-Saguenay.

Breckpot J, Takiyama Y, Thienpont B, Van Vooren S, Vermeesch JR, Ortibus E, Devriendt K. Breckpot J, et al. Among authors: devriendt k. Eur J Hum Genet. 2008 Sep;16(9):1050-4. doi: 10.1038/ejhg.2008.58. Epub 2008 Apr 9. Eur J Hum Genet. 2008. PMID: 18398442

2

Unusual molecular findings in autosomal recessive spinal muscular atrophy.

Matthijs G, Schollen E, Legius E, Devriendt K, Goemans N, Kayserili H, Apäk MY, Cassiman JJ. Matthijs G, et al. Among authors: devriendt k. J Med Genet. 1996 Jun;33(6):469-74. doi: 10.1136/jmg.33.6.469. J Med Genet. 1996. PMID: 8782046 Free PMC article.

3

Trisomy 15 rescue with jumping translocation of distal 15q in Prader-Willi syndrome.

Devriendt K, Petit P, Matthijs G, Vermeesch JR, Holvoet M, De Muelenaere A, Marynen P, Cassiman JJ, Fryns JP. Devriendt K, et al. J Med Genet. 1997 May;34(5):395-9. doi: 10.1136/jmg.34.5.395. J Med Genet. 1997. PMID: 9152837 Free PMC article.

4

Interstitial telomeric sequences at the junction site of a jumping translocation.

Vermeesch JR, Petit P, Speleman F, Devriendt K, Fryns JP, Marynen P. Vermeesch JR, et al. Among authors: devriendt k. Hum Genet. 1997 Jun;99(6):735-7. doi: 10.1007/s004390050440. Hum Genet. 1997. PMID: 9187665

5

X-linked severe mental retardation and a progressive neurological disorder in a Belgian family: clinical and genetic studies.

Claes S, Devriendt K, D'Adamo P, Meireleire J, Raeymaekers P, Toniolo D, Cassiman JJ, Fryns JP. Claes S, et al. Among authors: devriendt k. Clin Genet. 1997 Sep;52(3):155-61. doi: 10.1111/j.1399-0004.1997.tb02536.x. Clin Genet. 1997. PMID: 9377804

6

Unusual de novo t(13;15)(q12.1;p13) translocation leading to complex mosaicism including jumping translocation.

Petit P, Devriendt K, Vermeesch JR, De Cock P, Fryns JP. Petit P, et al. Among authors: devriendt k. Ann Genet. 1998;41(1):22-6. Ann Genet. 1998. PMID: 9599647

7

Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330).

Devriendt K, Matthijs G, Van Damme B, Van Caesbroeck D, Eccles M, Vanrenterghem Y, Fryns JP, Leys A. Devriendt K, et al. Hum Genet. 1998 Aug;103(2):149-53. doi: 10.1007/s004390050798. Hum Genet. 1998. PMID: 9760197

8

Localization by FISH of centric fission breakpoints in a de novo trisomy 9p patient with i(9p) and t(9q;11p).

Petit P, Devriendt K, Vermeesch JR, Meireleire J, Fryns JP. Petit P, et al. Among authors: devriendt k. Genet Couns. 1998;9(3):215-21. Genet Couns. 1998. PMID: 9777345

9

Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1.

Devriendt K, Matthijs G, Van Dael R, Gewillig M, Eyskens B, Hjalgrim H, Dolmer B, McGaughran J, Bröndum-Nielsen K, Marynen P, Fryns JP, Vermeesch JR. Devriendt K, et al. Am J Hum Genet. 1999 Apr;64(4):1119-26. doi: 10.1086/302330. Am J Hum Genet. 1999. PMID: 10090897 Free PMC article.

10

Cryptic translocation t(5;18) in familial mental retardation.

Vogels A, Devriendt K, Vermeesch JR, Van Dael R, Marynen P, Dewaele P, Hageman J, Holvoet M, Fryns JP. Vogels A, et al. Among authors: devriendt k. Ann Genet. 2000 Jul-Dec;43(3-4):117-23. doi: 10.1016/s0003-3995(00)01024-8. Ann Genet. 2000. PMID: 11164192

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