Devriendt K - Search Results

1

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

Girirajan S, Elsas LJ 2nd, Devriendt K, Elsea SH. Girirajan S, et al. Among authors: devriendt k. J Med Genet. 2005 Nov;42(11):820-8. doi: 10.1136/jmg.2005.031211. Epub 2005 Mar 23. J Med Genet. 2005. PMID: 15788730 Free PMC article.

2

Ichthyosis-characteristic appearance-mental retardation syndrome with distinct histological skin abnormalities.

Devriendt K, van den Oord J, De Vos R, Van den Berghe H, Fryns JP. Devriendt K, et al. Am J Med Genet. 1996 Jan 11;61(2):127-30. doi: 10.1002/(SICI)1096-8628(19960111)61:2<127::AID-AJMG4>3.0.CO;2-U. Am J Med Genet. 1996. PMID: 8669437

3

Alopecia-mental retardation syndrome associated with convulsions and hypergonadotropic hypogonadism.

Devriendt K, Van den Berghe H, Fryns JP. Devriendt K, et al. Clin Genet. 1996 Jan;49(1):6-9. doi: 10.1111/j.1399-0004.1996.tb04316.x. Clin Genet. 1996. PMID: 8721564

4

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

Devriendt K, D'Espallier L, Fryns JP. Devriendt K, et al. J Med Genet. 1996 Mar;33(3):224-6. doi: 10.1136/jmg.33.3.224. J Med Genet. 1996. PMID: 8728696 Free PMC article.

5

Progressive extrapyramidal disorder with primary hypogonadism and alopecia in sibs: a new syndrome?

Devriendt K, Legius E, Fryns JP. Devriendt K, et al. Am J Med Genet. 1996 Mar 1;62(1):54-7. doi: 10.1002/(SICI)1096-8628(19960301)62:1<54::AID-AJMG11>3.0.CO;2-U. Am J Med Genet. 1996. PMID: 8779325

6

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.

7

Cohen syndrome: the clinical symptoms and stigmata at a young age.

Fryns JP, Legius E, Devriendt K, Meire F, Standaert L, Baten E, Van den Berghe H. Fryns JP, et al. Among authors: devriendt k. Clin Genet. 1996 May;49(5):237-41. doi: 10.1111/j.1399-0004.1996.tb03780.x. Clin Genet. 1996. PMID: 8832131

8

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

Devriendt K, Matthijs G, Claes S, Legius E, Proesmans W, Cassiman JJ, Fryns JP. Devriendt K, et al. J Med Genet. 1997 Apr;34(4):318-22. doi: 10.1136/jmg.34.4.318. J Med Genet. 1997. PMID: 9138157 Free PMC article.

9

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.

10

Chromosome 22q11 deletion presenting as the Potter sequence.

Devriendt K, Moerman P, Van Schoubroeck D, Vandenberghe K, Fryns JP. Devriendt K, et al. J Med Genet. 1997 May;34(5):423-5. doi: 10.1136/jmg.34.5.423. J Med Genet. 1997. PMID: 9152843 Free PMC article.

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