Willems PJ - Search Results

1

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

2

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. Eur J Hum Genet. 1997 Nov-Dec;5(6):397-405. Eur J Hum Genet. 1997. PMID: 9450185

3

BglII RFLP in DXS 498 between the pigment gene repeat unit, RCP and GCP.

Vits L, Willems PJ. Vits L, et al. Among authors: willems pj. Hum Genet. 1992 Nov;90(3):322. doi: 10.1007/BF00220092. Hum Genet. 1992. PMID: 1362560

4

Further localization of X-linked hydrocephalus in the chromosomal region Xq28.

Willems PJ, Vits L, Raeymaekers P, Beuten J, Coucke P, Holden JJ, Van Broeckhoven C, Warren ST, Sagi M, Robinson D, et al. Willems PJ, et al. Am J Hum Genet. 1992 Aug;51(2):307-15. Am J Hum Genet. 1992. PMID: 1642232 Free PMC article.

5

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: willems pj. Am J Med Genet. 1990 May;36(1):122-5. doi: 10.1002/ajmg.1320360124. Am J Med Genet. 1990. PMID: 2333901

6

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: willems pj. 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.

7

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: willems pj. 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.

8

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: willems pj. Nat Genet. 1993 Aug;4(4):421-5. doi: 10.1038/ng0893-421. Nat Genet. 1993. PMID: 8401593

9

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: willems pj. 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

10

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

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

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