Van Camp G - Search Results

1

A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing.

Schrauwen I, Sommen M, Corneveaux JJ, Reiman RA, Hackett NJ, Claes C, Claes K, Bitner-Glindzicz M, Coucke P, Van Camp G, Huentelman MJ. Schrauwen I, et al. Among authors: van camp g. Am J Med Genet A. 2013 Jan;161A(1):145-52. doi: 10.1002/ajmg.a.35737. Epub 2012 Dec 3. Am J Med Genet A. 2013. PMID: 23208854

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

Linkage of autosomal dominant hearing loss to the short arm of chromosome 1 in two families.

Coucke P, Van Camp G, Djoyodiharjo B, Smith SD, Frants RR, Padberg GW, Darby JK, Huizing EH, Cremers CW, Kimberling WJ, et al. Coucke P, et al. Among authors: van camp g. N Engl J Med. 1994 Aug 18;331(7):425-31. doi: 10.1056/NEJM199408183310702. N Engl J Med. 1994. PMID: 8035838 Free article.

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: 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.

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

8

The gene for human gap junction protein connexin37 (GJA4) maps to chromosome 1p35.1, in the vicinity of D1S195.

Van Camp G, Coucke P, Speleman F, Van Roy N, Beyer EC, Oostra BA, Willems PJ. Van Camp G, et al. Among authors: van roy n. Genomics. 1995 Nov 20;30(2):402-3. Genomics. 1995. PMID: 8586454 No abstract available.

9

Localization of a gene for non-syndromic hearing loss (DFNA5) to chromosome 7p15.

van Camp G, Coucke P, Balemans W, van Velzen D, van de Bilt C, van Laer L, Smith RJ, Fukushima K, Padberg GW, Frants RR, et al. van Camp G, et al. Among authors: van de bilt c, van laer l, van velzen d. Hum Mol Genet. 1995 Nov;4(11):2159-63. doi: 10.1093/hmg/4.11.2159. Hum Mol Genet. 1995. PMID: 8589696

10

The gene for Pendred syndrome is located between D7S501 and D7S692 in a 1.7-cM region on chromosome 7q.

Coucke P, Van Camp G, Demirhan O, Kabakkaya Y, Balemans W, Van Hauwe P, Van Agtmael T, Smith RJ, Parving A, Bolder CH, Cremers CW, Willems PJ. Coucke P, et al. Among authors: van agtmael t, van camp g, van hauwe p. Genomics. 1997 Feb 15;40(1):48-54. doi: 10.1006/geno.1996.4541. Genomics. 1997. PMID: 9070918 Free article.

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