Van Camp G - Search Results

1

Resequencing of candidate genes for Keratoconus reveals a role for Ehlers-Danlos Syndrome genes.

Fransen E, Valgaeren H, Janssens K, Sommen M, De Ridder R, Vandeweyer G, Bisceglia L, Soler V, Hoischen A, Mortier G, Malecaze F, Koppen C, Van Camp G. Fransen E, et al. Among authors: van camp g. Eur J Hum Genet. 2021 Dec;29(12):1745-1755. doi: 10.1038/s41431-021-00849-2. Epub 2021 Mar 19. Eur J Hum Genet. 2021. PMID: 33737726 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. Among authors: van camp g. 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: van camp g. 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. Among authors: van camp g. 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. Among authors: van camp g. 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. Among authors: van camp g. Hum Mol Genet. 1997;6(10):1625-32. doi: 10.1093/hmg/6.10.1625. Hum Mol Genet. 1997. PMID: 9300653 Review.

7

Refined mapping of a gene for autosomal dominant progressive sensorineural hearing loss (DFNA5) to a 2-cM region, and exclusion of a candidate gene that is expressed in the cochlea.

Van Laer L, Van Camp G, van Zuijlen D, Green ED, Verstreken M, Schatteman I, Van de Heyning P, Balemans W, Coucke P, Greinwald JH, Smith RJ, Huizing E, Willems P. Van Laer L, et al. Among authors: van de heyning p, van camp g, van zuijlen d. Eur J Hum Genet. 1997 Nov-Dec;5(6):397-405. Eur J Hum Genet. 1997. PMID: 9450185

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: van camp g. 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. Among authors: van der linden a, van camp g. 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. Among authors: van camp g. 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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