Holvoet M - Search Results

1

Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome.

Schuurs-Hoeijmakers JH, Oh EC, Vissers LE, Swinkels ME, Gilissen C, Willemsen MA, Holvoet M, Steehouwer M, Veltman JA, de Vries BB, van Bokhoven H, de Brouwer AP, Katsanis N, Devriendt K, Brunner HG. Schuurs-Hoeijmakers JH, et al. Among authors: holvoet m. Am J Hum Genet. 2012 Dec 7;91(6):1122-7. doi: 10.1016/j.ajhg.2012.10.013. Epub 2012 Nov 15. Am J Hum Genet. 2012. PMID: 23159249 Free PMC article.

2

HUWE1 mutation explains phenotypic severity in a case of familial idiopathic intellectual disability.

Isrie M, Kalscheuer VM, Holvoet M, Fieremans N, Van Esch H, Devriendt K. Isrie M, et al. Among authors: holvoet m. Eur J Med Genet. 2013 Jul;56(7):379-82. doi: 10.1016/j.ejmg.2013.05.005. Epub 2013 May 27. Eur J Med Genet. 2013. PMID: 23721686

3

Further delineation of the KBG syndrome.

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

4

Dicentric chromosome 9 due to tandem duplication of the 9p11-q13 region: unusual chromosome 9 variant.

Lukusa T, Devriendt K, Holvoet M, Fryns JP. Lukusa T, et al. Among authors: holvoet m. Am J Med Genet. 2000 Mar 20;91(3):192-7. Am J Med Genet. 2000. PMID: 10756341

5

Severe mental retardation-distal arthrogryposis in the upper limbs and complex chromosomal rearrangements resulting from a 10q25-->qter deletion.

Lukusa T, Devriendt K, Holvoet M, Fryns JP. Lukusa T, et al. Among authors: holvoet m. Clin Genet. 1998 Sep;54(3):224-30. doi: 10.1111/j.1399-0004.1998.tb04289.x. Clin Genet. 1998. PMID: 9788726 Review.

6

Follow-up of an adult with Keutel syndrome.

Devriendt K, Holvoet M, Fryns JP. Devriendt K, et al. Among authors: holvoet m. Am J Med Genet. 1999 Jul 2;85(1):82-3. Am J Med Genet. 1999. PMID: 10377017 No abstract available.

7

Regional localization of two genes for nonspecific X-linked mental retardation to Xp22.3-p22.2 (MRX49) and Xp11.3-p11.21 (MRX50).

Claes S, Vogels A, Holvoet M, Devriendt K, Raeymaekers P, Cassiman JJ, Fryns JP. Claes S, et al. Among authors: holvoet m. Am J Med Genet. 1997 Dec 31;73(4):474-9. Am J Med Genet. 1997. PMID: 9415477

8

Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern.

Fieremans N, Van Esch H, Holvoet M, Van Goethem G, Devriendt K, Rosello M, Mayo S, Martinez F, Jhangiani S, Muzny DM, Gibbs RA, Lupski JR, Vermeesch JR, Marynen P, Froyen G. Fieremans N, et al. Among authors: holvoet m. Hum Mutat. 2016 Aug;37(8):804-11. doi: 10.1002/humu.23012. Epub 2016 May 25. Hum Mutat. 2016. PMID: 27159028 Free PMC article.

9

Triplication of distal chromosome 10q.

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

10

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: holvoet m. Genet Couns. 2003;14(2):155-64. Genet Couns. 2003. PMID: 12872809

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