Verellen-Dumoulin C - Search Results

1

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.

Moortgat S, Berland S, Aukrust I, Maystadt I, Baker L, Benoit V, Caro-Llopis A, Cooper NS, Debray FG, Faivre L, Gardeitchik T, Haukanes BI, Houge G, Kivuva E, Martinez F, Mehta SG, Nassogne MC, Powell-Hamilton N, Pfundt R, Rosello M, Prescott T, Vasudevan P, van Loon B, Verellen-Dumoulin C, Verloes A, Lippe CV, Wakeling E, Wilkie AOM, Wilson L, Yuen A, Study D, Low KJ, Newbury-Ecob RA. Moortgat S, et al. Among authors: verellen dumoulin c. Eur J Hum Genet. 2018 Jan;26(1):64-74. doi: 10.1038/s41431-017-0038-6. Epub 2017 Nov 27. Eur J Hum Genet. 2018. PMID: 29180823 Free PMC article.

2

Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome.

Lederer D, Grisart B, Digilio MC, Benoit V, Crespin M, Ghariani SC, Maystadt I, Dallapiccola B, Verellen-Dumoulin C. Lederer D, et al. Am J Hum Genet. 2012 Jan 13;90(1):119-24. doi: 10.1016/j.ajhg.2011.11.021. Epub 2011 Dec 22. Am J Hum Genet. 2012. PMID: 22197486 Free PMC article.

3

A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A.

Lederer D, Shears D, Benoit V, Verellen-Dumoulin C, Maystadt I. Lederer D, et al. Am J Med Genet A. 2014 May;164A(5):1289-92. doi: 10.1002/ajmg.a.36442. Epub 2014 Mar 24. Am J Med Genet A. 2014. PMID: 24664873 Review.

4

Developmental delay and facial dysmorphism in a child with an 8.9 Mb de novo interstitial deletion of 3q25.1-q25.32: Genotype-phenotype correlations of chromosome 3q25 deletion syndrome.

Moortgat S, Verellen-Dumoulin C, Maystadt I, Parmentier B, Grisart B, Hennecker JL, Destree A. Moortgat S, et al. Eur J Med Genet. 2011 Mar-Apr;54(2):177-80. doi: 10.1016/j.ejmg.2010.11.011. Epub 2010 Dec 15. Eur J Med Genet. 2011. PMID: 21167329

5

The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset.

Maystadt I, Rezsöhazy R, Barkats M, Duque S, Vannuffel P, Remacle S, Lambert B, Najimi M, Sokal E, Munnich A, Viollet L, Verellen-Dumoulin C. Maystadt I, et al. Am J Hum Genet. 2007 Jul;81(1):67-76. doi: 10.1086/518900. Epub 2007 May 16. Am J Hum Genet. 2007. PMID: 17564964 Free PMC article.

6

Intron 22 homologous regions are implicated in exons 1-22 duplications of the F8 gene.

Lannoy N, Grisart B, Eeckhoudt S, Verellen-Dumoulin C, Lambert C, Vikkula M, Hermans C. Lannoy N, et al. Eur J Hum Genet. 2013 Sep;21(9):970-6. doi: 10.1038/ejhg.2012.275. Epub 2013 Jan 9. Eur J Hum Genet. 2013. PMID: 23299923 Free PMC article.

7

NF1 microduplication first clinical report: association with mild mental retardation, early onset of baldness and dental enamel hypoplasia?

Grisart B, Rack K, Vidrequin S, Hilbert P, Deltenre P, Verellen-Dumoulin C, Destrée A. Grisart B, et al. Eur J Hum Genet. 2008 Mar;16(3):305-11. doi: 10.1038/sj.ejhg.5201978. Epub 2008 Jan 9. Eur J Hum Genet. 2008. PMID: 18183042

8

A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2).

Veldhuisen B, Saris JJ, de Haij S, Hayashi T, Reynolds DM, Mochizuki T, Elles R, Fossdal R, Bogdanova N, van Dijk MA, Coto E, Ravine D, Nørby S, Verellen-Dumoulin C, Breuning MH, Somlo S, Peters DJ. Veldhuisen B, et al. Am J Hum Genet. 1997 Sep;61(3):547-55. doi: 10.1086/515497. Am J Hum Genet. 1997. PMID: 9326320 Free PMC article.

9

Allelic heterogeneity of SMARD1 at the IGHMBP2 locus.

Maystadt I, Zarhrate M, Landrieu P, Boespflug-Tanguy O, Sukno S, Collignon P, Melki J, Verellen-Dumoulin C, Munnich A, Viollet L. Maystadt I, et al. Hum Mutat. 2004 May;23(5):525-6. doi: 10.1002/humu.9241. Hum Mutat. 2004. PMID: 15108294

10

Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe.

Barisic I, Boban L, Loane M, Garne E, Wellesley D, Calzolari E, Dolk H, Addor MC, Bergman JE, Braz P, Draper ES, Haeusler M, Khoshnood B, Klungsoyr K, Pierini A, Queisser-Luft A, Rankin J, Rissmann A, Verellen-Dumoulin C. Barisic I, et al. Eur J Hum Genet. 2015 Jun;23(6):746-52. doi: 10.1038/ejhg.2014.174. Epub 2014 Sep 3. Eur J Hum Genet. 2015. PMID: 25182137 Free PMC article.

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