Van Esch H - Search Results

1

Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy.

Duerinckx S, Désir J, Perazzolo C, Badoer C, Jacquemin V, Soblet J, Maystadt I, Tunca Y, Blaumeiser B, Ceulemans B, Courtens W, Debray FG, Destree A, Devriendt K, Jansen A, Keymolen K, Lederer D, Loeys B, Meuwissen M, Moortgat S, Mortier G, Nassogne MC, Sekhara T, Van Coster R, Van Den Ende J, Van der Aa N, Van Esch H, Vanakker O, Verhelst H, Vilain C, Weckhuysen S, Passemard S, Verloes A, Aeby A, Deconinck N, Van Bogaert P, Pirson I, Abramowicz M. Duerinckx S, et al. Among authors: van der aa n, van esch h, van coster r, van bogaert p, van den ende j. Mol Genet Genomic Med. 2021 Sep;9(9):e1768. doi: 10.1002/mgg3.1768. Epub 2021 Aug 17. Mol Genet Genomic Med. 2021. PMID: 34402213 Free PMC article.

2

Recurrent involvement of chromosomal region 6q21 in heterotaxy.

Peeters H, Debeer P, Groenen P, Van Esch H, Vanderlinden G, Eyskens B, Mertens L, Gewillig M, Van de Ven W, Fryns JP, Devriendt K. Peeters H, et al. Among authors: van esch h, van de ven w. Am J Med Genet. 2001 Sep 15;103(1):44-7. doi: 10.1002/ajmg.1499. Am J Med Genet. 2001. PMID: 11562933

3

Transcription factor GATA3 and the human HDR syndrome.

Van Esch H, Devriendt K. Van Esch H, et al. Cell Mol Life Sci. 2001 Aug;58(9):1296-300. doi: 10.1007/pl00000940. Cell Mol Life Sci. 2001. PMID: 11577985 Review.

4

X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22.1-p21.3 in a Belgian family.

Van Esch H, Zanni G, Holvoet M, Borghgraef M, Chelly J, Fryns JP, Devriendt K. Van Esch H, et al. Eur J Med Genet. 2005 Apr-Jun;48(2):145-52. doi: 10.1016/j.ejmg.2005.01.016. Epub 2005 Feb 12. Eur J Med Genet. 2005. PMID: 16053905

5

Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes.

Van Esch H, Jansen A, Bauters M, Froyen G, Fryns JP. Van Esch H, et al. Am J Med Genet A. 2007 Feb 15;143(4):364-9. doi: 10.1002/ajmg.a.31572. Am J Med Genet A. 2007. PMID: 17256798

6

Severe visual impairment and retinal changes in a boy with a deletion of the gene for Nance-Horan syndrome.

Mathys R, Deconinck H, Keymolen K, Jansen A, Van Esch H. Mathys R, et al. Among authors: van esch h. Bull Soc Belge Ophtalmol. 2007;(305):49-53. Bull Soc Belge Ophtalmol. 2007. PMID: 18018428

7

Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4.

Backx L, Ceulemans B, Vermeesch JR, Devriendt K, Van Esch H. Backx L, et al. Among authors: van esch h. Eur J Hum Genet. 2009 Mar;17(3):378-82. doi: 10.1038/ejhg.2008.180. Epub 2008 Oct 15. Eur J Hum Genet. 2009. PMID: 18854870 Free PMC article.

8

Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome.

Thienpont B, Béna F, Breckpot J, Philip N, Menten B, Van Esch H, Scalais E, Salamone JM, Fong CT, Kussmann JL, Grange DK, Gorski JL, Zahir F, Yong SL, Morris MM, Gimelli S, Fryns JP, Mortier G, Friedman JM, Villard L, Bottani A, Vermeesch JR, Cheung SW, Devriendt K. Thienpont B, et al. Among authors: van esch h. J Med Genet. 2010 Mar;47(3):155-61. doi: 10.1136/jmg.2009.070573. Epub 2009 Oct 14. J Med Genet. 2010. PMID: 19833603

9

Developmental delay and connective tissue disorder in four patients sharing a common microdeletion at 6q13-14.

Van Esch H, Rosser EM, Janssens S, Van Ingelghem I, Loeys B, Menten B. Van Esch H, et al. Among authors: van ingelghem i. J Med Genet. 2010 Oct;47(10):717-20. doi: 10.1136/jmg.2010.077586. Epub 2010 Aug 3. J Med Genet. 2010. PMID: 20685673

10

A balanced translocation t(6;14)(q25.3;q13.2) leading to reciprocal fusion transcripts in a patient with intellectual disability and agenesis of corpus callosum.

Backx L, Seuntjens E, Devriendt K, Vermeesch J, Van Esch H. Backx L, et al. Among authors: van esch h. Cytogenet Genome Res. 2011;132(3):135-43. doi: 10.1159/000321577. Epub 2010 Oct 30. Cytogenet Genome Res. 2011. PMID: 21042007

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