Devriendt K - Search Results

1

Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature.

Au PYB, Goedhart C, Ferguson M, Breckpot J, Devriendt K, Wierenga K, Fanning E, Grange DK, Graham GE, Galarreta C, Jones MC, Kini U, Stewart H, Parboosingh JS, Kline AD, Innes AM; Care for Rare Canada Consortium. Au PYB, et al. Among authors: devriendt k. Eur J Hum Genet. 2018 Sep;26(9):1272-1281. doi: 10.1038/s41431-018-0187-2. Epub 2018 Jun 14. Eur J Hum Genet. 2018. PMID: 29904177 Free PMC article. Review.

2

Molecular analysis of the isochromosome 12P in the Pallister-Killian syndrome. Construction of a mouse-human hybrid cell line containing an i(12p) as the sole human chromosome.

Zhang J, Marynen P, Devriendt K, Fryns JP, Van den Berghe H, Cassiman JJ. Zhang J, et al. Among authors: devriendt k. Hum Genet. 1989 Nov;83(4):359-63. doi: 10.1007/BF00291381. Hum Genet. 1989. PMID: 2807276

3

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.

4

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

5

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

6

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

Devriendt K, Standaert L, Van Hole C, Devlieger H, Fryns JP. Devriendt K, et al. J Med Genet. 1998 Jan;35(1):70-1. doi: 10.1136/jmg.35.1.70. J Med Genet. 1998. PMID: 9475100 Free PMC article.

7

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

Fryns JP, Van Lingen C, Devriendt K, Legius E, Raus P. Fryns JP, et al. Among authors: devriendt k. J Med Genet. 1998 Apr;35(4):333-5. doi: 10.1136/jmg.35.4.333. J Med Genet. 1998. PMID: 9598731 Free PMC article.

8

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.

9

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

10

Further delineation of the KBG syndrome.

Devriendt K, Holvoet M, Fryns JP. Devriendt K, et al. Genet Couns. 1998;9(3):191-4. Genet Couns. 1998. PMID: 9777340

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