Vits L - Search Results

1

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: vits l. 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.

2

Two brothers with mental retardation discordant for the fragile-X syndrome.

Van Roy BC, Willems PJ, Vits LJ, Ceulemans BP, Coucke PJ, Van der Auwera BJ, Lormans JA, Dumon JE. Van Roy BC, et al. Among authors: vits lj. Am J Med Genet. 1990 May;36(1):122-5. doi: 10.1002/ajmg.1320360124. Am J Med Genet. 1990. PMID: 2333901

3

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: vits l. 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.

4

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. Nat Genet. 1994 Jul;7(3):408-13. doi: 10.1038/ng0794-408. Nat Genet. 1994. PMID: 7920660

5

Identification of a 5' splice site mutation in intron 4 of the L1CAM gene in an X-linked hydrocephalus family.

Coucke P, Vits L, Van Camp G, Serville F, Lyonnet S, Kenwrick S, Rosenthal A, Wehnert M, Munnich A, Willems PJ. Coucke P, et al. Among authors: vits l. Hum Mol Genet. 1994 Apr;3(4):671-3. doi: 10.1093/hmg/3.4.671. Hum Mol Genet. 1994. PMID: 8069317 No abstract available.

6

A duplication in the L1CAM gene associated with X-linked hydrocephalus.

Van Camp G, Vits L, Coucke P, Lyonnet S, Schrander-Stumpel C, Darby J, Holden J, Munnich A, Willems PJ. Van Camp G, et al. Among authors: vits l. Nat Genet. 1993 Aug;4(4):421-5. doi: 10.1038/ng0893-421. Nat Genet. 1993. PMID: 8401593

7

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: vits l. Eur J Hum Genet. 1995;3(5):273-84. doi: 10.1159/000472311. Eur J Hum Genet. 1995. PMID: 8556302 Review.

8

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: vits l. 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

9

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

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

10

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. Hum Mutat. 1998;Suppl 1:S284-7. doi: 10.1002/humu.1380110189. Hum Mutat. 1998. PMID: 9452110 No abstract available.

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