Fransen E - Search Results

1

Large-scale analysis of DFNA5 methylation reveals its potential as biomarker for breast cancer.

Croes L, Beyens M, Fransen E, Ibrahim J, Vanden Berghe W, Suls A, Peeters M, Pauwels P, Van Camp G, Op de Beeck K. Croes L, et al. Among authors: fransen e. Clin Epigenetics. 2018 Apr 11;10:51. doi: 10.1186/s13148-018-0479-y. eCollection 2018. Clin Epigenetics. 2018. PMID: 29682089 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

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.

7

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.

8

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.

9

Dependence of the ligation efficiency of large DNA fragments isolated from agarose gels on the purification method.

Fransen E, Van Camp G, Winnepenninckx B. Fransen E, et al. Prep Biochem Biotechnol. 1998 Aug;28(3):235-41. doi: 10.1080/10826069808010138. Prep Biochem Biotechnol. 1998. PMID: 9710896

10

The COCH gene: a frequent cause of hearing impairment and vestibular dysfunction?

Fransen E, Van Camp G. Fransen E, et al. Br J Audiol. 1999 Oct;33(5):297-302. doi: 10.3109/03005369909090113. Br J Audiol. 1999. PMID: 10890144

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