Devriendt K - Search Results

1

A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX.

Ansari M, Rainger JK, Murray JE, Hanson I, Firth HV, Mehendale F, Amiel J, Gordon CT, Percesepe A, Mazzanti L, Fryer A, Ferrari P, Devriendt K, Temple IK, FitzPatrick DR. Ansari M, et al. Among authors: devriendt k. Eur J Med Genet. 2014 Oct;57(10):587-95. doi: 10.1016/j.ejmg.2014.08.007. Epub 2014 Sep 3. Eur J Med Genet. 2014. PMID: 25195018

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

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.

4

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.

5

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.

6

Submicroscopic deletion in chromosome 22q11 in trizygous triplet siblings and their father. Clinical variability of 22q11 deletion.

Devriendt K, Van Hoestenberghe R, Van Hole C, Devlieger H, Gewillig M, Moerman P, Van den Berghe H, Fryns JP. Devriendt K, et al. Clin Genet. 1997 Apr;51(4):246-9. doi: 10.1111/j.1399-0004.1997.tb02463.x. Clin Genet. 1997. PMID: 9184246

7

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

Swillen A, Devriendt K, Legius E, Eyskens B, Dumoulin M, Gewillig M, Fryns JP. Swillen A, et al. Among authors: devriendt k. J Med Genet. 1997 Jun;34(6):453-8. doi: 10.1136/jmg.34.6.453. J Med Genet. 1997. PMID: 9192263 Free PMC article.

8

A recognisable behavioural phenotype associated with terminal deletions of the short arm of chromosome 8.

Claeys I, Holvoet M, Eyskens B, Adriaensens P, Gewillig M, Fryns JP, Devriendt K. Claeys I, et al. Among authors: devriendt k. Am J Med Genet. 1997 Sep 19;74(5):515-20. doi: 10.1002/(sici)1096-8628(19970919)74:5<515::aid-ajmg12>3.0.co;2-f. Am J Med Genet. 1997. PMID: 9342203

9

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

Devriendt K, Stoffelen D, Pfeiffer R, Leys A, Fryns JP. Devriendt K, et al. J Med Genet. 1998 Jun;35(6):508-9. doi: 10.1136/jmg.35.6.508. J Med Genet. 1998. PMID: 9643295 Free PMC article.

10

Triplication of distal chromosome 10q.

Devriendt K, Matthijs G, Holvoet M, Schoenmakers E, Fryns JP. Devriendt K, et al. J Med Genet. 1999 Mar;36(3):242-5. J Med Genet. 1999. PMID: 10204854 Free PMC article.

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