Devriendt K - Search Results

1

Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity.

Cheng H, Capponi S, Wakeling E, Marchi E, Li Q, Zhao M, Weng C, Stefan PG, Ahlfors H, Kleyner R, Rope A, Lumaka A, Lukusa P, Devriendt K, Vermeesch J, Posey JE, Palmer EE, Murray L, Leon E, Diaz J, Worgan L, Mallawaarachchi A, Vogt J, de Munnik SA, Dreyer L, Baynam G, Ewans L, Stark Z, Lunke S, Gonçalves AR, Soares G, Oliveira J, Fassi E, Willing M, Waugh JL, Faivre L, Riviere JB, Moutton S, Mohammed S, Payne K, Walsh L, Begtrup A, Guillen Sacoto MJ, Douglas G, Alexander N, Buckley MF, Mark PR, Adès LC, Sandaradura SA, Lupski JR, Roscioli T, Agrawal PB, Kline AD; Deciphering Developmental Disorders Study; Wang K, Timmers HTM, Lyon GJ. Cheng H, et al. Among authors: devriendt k. Hum Mutat. 2019 Oct 23:10.1002/humu.23936. doi: 10.1002/humu.23936. Online ahead of print. Hum Mutat. 2019. PMID: 31646703 Free PMC article.

2

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

3

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

4

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

Vermeesch JR, Baten E, Fryns JP, Devriendt K. Vermeesch JR, et al. Among authors: devriendt k. Clin Genet. 2002 Nov;62(5):415-7. doi: 10.1034/j.1399-0004.2002.620511.x. Clin Genet. 2002. PMID: 12431259

5

Partial monosomy 11q and trisomy 12q: variable expression in two siblings.

Lukusa T, Holvoet M, Vermeesch JR, Devriendt K, Fryns JP. Lukusa T, et al. Among authors: devriendt k. Genet Couns. 2003;14(2):155-64. Genet Couns. 2003. PMID: 12872809

6

Deletion 2q37.3 and autism: molecular cytogenetic mapping of the candidate region for autistic disorder.

Lukusa T, Vermeesch JR, Holvoet M, Fryns JP, Devriendt K. Lukusa T, et al. Among authors: devriendt k. Genet Couns. 2004;15(3):293-301. Genet Couns. 2004. PMID: 15517821

7

Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome.

Borozdin W, Steinmann K, Albrecht B, Bottani A, Devriendt K, Leipoldt M, Kohlhase J. Borozdin W, et al. Among authors: devriendt k. Hum Mutat. 2006 Feb;27(2):211-2. doi: 10.1002/humu.9396. Hum Mutat. 2006. PMID: 16429401

8

Molecular cytogenetic characterization of a constitutional complex intrachromosomal 4q rearrangement in a patient with multiple congenital anomalies.

Thienpont B, Gewillig M, Fryns JP, Devriendt K, Vermeesch J. Thienpont B, et al. Among authors: devriendt k. Cytogenet Genome Res. 2006;114(3-4):338-41. doi: 10.1159/000094223. Cytogenet Genome Res. 2006. PMID: 16954676

9

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

10

Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements.

Dimitrov BI, de Ravel T, Van Driessche J, de Die-Smulders C, Toutain A, Vermeesch JR, Fryns JP, Devriendt K, Debeer P. Dimitrov BI, et al. Among authors: devriendt k. J Med Genet. 2010 Feb;47(2):103-11. doi: 10.1136/jmg.2008.065888. Epub 2009 Jul 6. J Med Genet. 2010. PMID: 19584065

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