Verellen-Dumoulin C - Search Results

1

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.

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

Discordant monozygotic twins for macrocephaly-capillary malformation.

Lederer D, Rack K, Boulanger S, Battisti O, Verellen-Dumoulin C. Lederer D, et al. Am J Med Genet A. 2012 Jun;158A(6):1509-11. doi: 10.1002/ajmg.a.35382. Epub 2012 May 14. Am J Med Genet A. 2012. PMID: 22585741 Free article. No abstract available.

4

Atypical findings in three patients with Pai syndrome and literature review.

Lederer D, Wilson B, Lefesvre P, Poorten VV, Kirkham N, Mitra D, Verellen-Dumoulin C, Devriendt K. Lederer D, et al. Am J Med Genet A. 2012 Nov;158A(11):2899-904. doi: 10.1002/ajmg.a.35592. Epub 2012 Sep 17. Am J Med Genet A. 2012. PMID: 22987662 Review.

5

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.

6

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

7

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.

8

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

9

17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction.

Grisart B, Willatt L, Destrée A, Fryns JP, Rack K, de Ravel T, Rosenfeld J, Vermeesch JR, Verellen-Dumoulin C, Sandford R. Grisart B, et al. J Med Genet. 2009 Aug;46(8):524-30. doi: 10.1136/jmg.2008.065367. Epub 2009 Jun 4. J Med Genet. 2009. PMID: 19502243

10

Congenital clubfoot in Europe: A population-based study.

Wang H, Barisic I, Loane M, Addor MC, Bailey LM, Gatt M, Klungsoyr K, Mokoroa O, Nelen V, Neville AJ, O'Mahony M, Pierini A, Rissmann A, Verellen-Dumoulin C, de Walle HEK, Wiesel A, Wisniewska K, de Jong-van den Berg LTW, Dolk H, Khoshnood B, Garne E. Wang H, et al. Among authors: verellen dumoulin c. Am J Med Genet A. 2019 Apr;179(4):595-601. doi: 10.1002/ajmg.a.61067. Epub 2019 Feb 10. Am J Med Genet A. 2019. PMID: 30740879

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