Fransen E - Search Results

1

A common ancestor for COCH related cochleovestibular (DFNA9) patients in Belgium and The Netherlands bearing the P51S mutation.

Fransen E, Verstreken M, Bom SJ, Lemaire F, Kemperman MH, De Kok YJ, Wuyts FL, Verhagen WI, Huygen PL, McGuirt WT, Smith RJ, Van Maldergem LV, Declau F, Cremers CW, Van De Heyning PH, Cremers FP, Van Camp G. Fransen E, et al. J Med Genet. 2001 Jan;38(1):61-5. doi: 10.1136/jmg.38.1.61. J Med Genet. 2001. PMID: 11332404 Free PMC article. No abstract available.

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

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

4

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.

5

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.

6

Familial congenital hydrocephalus and aqueduct stenosis with probably autosomal dominant inheritance and variable expression.

Verhagen WI, Bartels RH, Fransen E, van Camp G, Renier WO, Grotenhuis JA. Verhagen WI, et al. Among authors: fransen e. J Neurol Sci. 1998 Jun 11;158(1):101-5. doi: 10.1016/s0022-510x(98)00097-5. J Neurol Sci. 1998. PMID: 9667786 Review.

7

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

8

High prevalence of symptoms of Menière's disease in three families with a mutation in the COCH gene.

Fransen E, Verstreken M, Verhagen WI, Wuyts FL, Huygen PL, D'Haese P, Robertson NG, Morton CC, McGuirt WT, Smith RJ, Declau F, Van de Heyning PH, Van Camp G. Fransen E, et al. Hum Mol Genet. 1999 Aug;8(8):1425-9. doi: 10.1093/hmg/8.8.1425. Hum Mol Genet. 1999. PMID: 10400989

9

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

10

Familial progressive vestibulocochlear dysfunction caused by a COCH mutation (DFNA9).

Verhagen WI, Bom SJ, Huygen PL, Fransen E, Van Camp G, Cremers CW. Verhagen WI, et al. Among authors: fransen e. Arch Neurol. 2000 Jul;57(7):1045-7. doi: 10.1001/archneur.57.7.1045. Arch Neurol. 2000. PMID: 10891988

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