Fransen E - Search Results

1

Genome-wide SNP-based linkage scan identifies a locus on 8q24 for an age-related hearing impairment trait.

Huyghe JR, Van Laer L, Hendrickx JJ, Fransen E, Demeester K, Topsakal V, Kunst S, Manninen M, Jensen M, Bonaconsa A, Mazzoli M, Baur M, Hannula S, Mäki-Torkko E, Espeso A, Van Eyken E, Flaquer A, Becker C, Stephens D, Sorri M, Orzan E, Bille M, Parving A, Pyykkö I, Cremers CW, Kremer H, Van de Heyning PH, Wienker TF, Nürnberg P, Pfister M, Van Camp G. Huyghe JR, et al. Among authors: fransen e. Am J Hum Genet. 2008 Sep;83(3):401-7. doi: 10.1016/j.ajhg.2008.08.002. Epub 2008 Aug 28. Am J Hum Genet. 2008. PMID: 18760390 Free PMC article.

2

X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene.

Fransen E, Schrander-Stumpel C, Vits L, Coucke P, Van Camp G, Willems PJ. Fransen E, et al. Hum Mol Genet. 1994 Dec;3(12):2255-6. doi: 10.1093/hmg/3.12.2255. Hum Mol Genet. 1994. PMID: 7881431 No abstract available.

3

MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM.

Vits L, Van Camp G, Coucke P, Fransen E, De Boulle K, Reyniers E, Korn B, Poustka A, Wilson G, Schrander-Stumpel C, et al. Vits L, et al. Among authors: fransen e. Nat Genet. 1994 Jul;7(3):408-13. doi: 10.1038/ng0794-408. Nat Genet. 1994. PMID: 7920660

4

CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1.

Fransen E, Lemmon V, Van Camp G, Vits L, Coucke P, Willems PJ. Fransen E, et al. Eur J Hum Genet. 1995;3(5):273-84. doi: 10.1159/000472311. Eur J Hum Genet. 1995. PMID: 8556302 Review.

5

The clinical spectrum of mutations in L1, a neuronal cell adhesion molecule.

Fransen E, Vits L, Van Camp G, Willems PJ. Fransen E, et al. Am J Med Genet. 1996 Jul 12;64(1):73-7. doi: 10.1002/(SICI)1096-8628(19960712)64:1<73::AID-AJMG11>3.0.CO;2-P. Am J Med Genet. 1996. PMID: 8826452

6

Positional cloning of a gene involved in hereditary multiple exostoses.

Wuyts W, Van Hul W, Wauters J, Nemtsova M, Reyniers E, Van Hul EV, De Boulle K, de Vries BB, Hendrickx J, Herrygers I, Bossuyt P, Balemans W, Fransen E, Vits L, Coucke P, Nowak NJ, Shows TB, Mallet L, van den Ouweland AM, McGaughran J, Halley DJ, Willems PJ. Wuyts W, et al. Among authors: fransen e. Hum Mol Genet. 1996 Oct;5(10):1547-57. doi: 10.1093/hmg/5.10.1547. Hum Mol Genet. 1996. PMID: 8894688

7

L1-associated diseases: clinical geneticists divide, molecular geneticists unite.

Fransen E, Van Camp G, Vits L, Willems PJ. Fransen E, et al. Hum Mol Genet. 1997;6(10):1625-32. doi: 10.1093/hmg/6.10.1625. Hum Mol Genet. 1997. PMID: 9300653 Review.

8

Evidence for somatic and germline mosaicism in CRASH syndrome.

Vits L, Chitayat D, Van Camp G, Holden JJ, Fransen E, Willems PJ. Vits L, et al. Among authors: fransen e. Hum Mutat. 1998;Suppl 1:S284-7. doi: 10.1002/humu.1380110189. Hum Mutat. 1998. PMID: 9452110 No abstract available.

9

L1 knockout mice show dilated ventricles, vermis hypoplasia and impaired exploration patterns.

Fransen E, D'Hooge R, Van Camp G, Verhoye M, Sijbers J, Reyniers E, Soriano P, Kamiguchi H, Willemsen R, Koekkoek SK, De Zeeuw CI, De Deyn PP, Van der Linden A, Lemmon V, Kooy RF, Willems PJ. Fransen E, et al. Hum Mol Genet. 1998 Jun;7(6):999-1009. doi: 10.1093/hmg/7.6.999. Hum Mol Genet. 1998. PMID: 9580664

10

Genotype-phenotype correlation in L1 associated diseases.

Fransen E, Van Camp G, D'Hooge R, Vits L, Willems PJ. Fransen E, et al. J Med Genet. 1998 May;35(5):399-404. doi: 10.1136/jmg.35.5.399. J Med Genet. 1998. PMID: 9610803 Free PMC article.

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