Coucke P - Search Results

1

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. 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.

2

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. Among authors: coucke p. Am J Hum Genet. 1992 Aug;51(2):307-15. Am J Hum Genet. 1992. PMID: 1642232 Free PMC article.

3

Mutations in the phosphorylase kinase gene PHKA2 are responsible for X-linked liver glycogen storage disease.

Hendrickx J, Coucke P, Dams E, Lee P, Odièvre M, Corbeel L, Fernandes JF, Willems PJ. Hendrickx J, et al. Among authors: coucke p. Hum Mol Genet. 1995 Jan;4(1):77-83. doi: 10.1093/hmg/4.1.77. Hum Mol Genet. 1995. PMID: 7711737

4

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: coucke p. 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.

5

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

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

8

X-linked liver glycogenosis type II (XLG II) is caused by mutations in PHKA2, the gene encoding the liver alpha subunit of phosphorylase kinase.

Hendrickx J, Dams E, Coucke P, Lee P, Fernandes J, Willems PJ. Hendrickx J, et al. Among authors: coucke p. Hum Mol Genet. 1996 May;5(5):649-52. doi: 10.1093/hmg/5.5.649. Hum Mol Genet. 1996. PMID: 8733133

9

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

10

Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families.

Coucke PJ, Van Hauwe P, Kelley PM, Kunst H, Schatteman I, Van Velzen D, Meyers J, Ensink RJ, Verstreken M, Declau F, Marres H, Kastury K, Bhasin S, McGuirt WT, Smith RJ, Cremers CW, Van de Heyning P, Willems PJ, Smith SD, Van Camp G. Coucke PJ, et al. Hum Mol Genet. 1999 Jul;8(7):1321-8. doi: 10.1093/hmg/8.7.1321. Hum Mol Genet. 1999. PMID: 10369879

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