Van Camp G - Search Results

1

Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease.

Bidaud C, Salomon R, Van Camp G, Pelet A, Attié T, Eng C, Bonduelle M, Amiel J, Nihoul-Fékété C, Willems PJ, Munnich A, Lyonnet S. Bidaud C, et al. Among authors: van camp g. Eur J Hum Genet. 1997 Jul-Aug;5(4):247-51. Eur J Hum Genet. 1997. PMID: 9359047

2

[Mutations of the endothelin-3 gene in isolated and syndromic forms of Hirschsprung disease].

Bidaud C, Salomon R, Edery P, Van Camp G, Pelet A, Bonduelle M, Nihoul-Fékété C, Willems PJ, Munnich A, Lyonnet S. Bidaud C, et al. Among authors: van camp g. Gastroenterol Clin Biol. 1997;21(8-9):548-54. Gastroenterol Clin Biol. 1997. PMID: 9587491 Free article. French.

3

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.

4

Chromosome 13q deletion with Waardenburg syndrome: further evidence for a gene involved in neural crest function on 13q.

Van Camp G, Van Thienen MN, Handig I, Van Roy B, Rao VS, Milunsky A, Read AP, Baldwin CT, Farrer LA, Bonduelle M, et al. Van Camp G, et al. Among authors: van thienen mn, van roy b. J Med Genet. 1995 Jul;32(7):531-6. doi: 10.1136/jmg.32.7.531. J Med Genet. 1995. PMID: 7562965 Free PMC article.

5

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.

6

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: van camp g. 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.

7

Nonsyndromic hearing impairment: unparalleled heterogeneity.

Van Camp G, Willems PJ, Smith RJ. Van Camp G, et al. Am J Hum Genet. 1997 Apr;60(4):758-64. Am J Hum Genet. 1997. PMID: 9106521 Free PMC article. Review. No abstract available.

8

Physical mapping of the HOXA1 gene and the hnRPA2B1 gene in a YAC contig from human chromosome 7p14-p15.

Van Laer L, Van Camp G, Green ED, Huizing EH, Willems PJ. Van Laer L, et al. Among authors: van camp g. Hum Genet. 1997 Jun;99(6):831-3. doi: 10.1007/s004390050457. Hum Genet. 1997. PMID: 9187682

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: 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.

10

Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome.

Coucke PJ, Van Hauwe P, Everett LA, Demirhan O, Kabakkaya Y, Dietrich NL, Smith RJ, Coyle E, Reardon W, Trembath R, Willems PJ, Green ED, Van Camp G. Coucke PJ, et al. Among authors: van hauwe p, van camp g. J Med Genet. 1999 Jun;36(6):475-7. J Med Genet. 1999. PMID: 10874637 Free PMC article.

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