Snoeckx RL - Search Results

1

GJB2 mutations and degree of hearing loss: a multicenter study.

Snoeckx RL, Huygen PL, Feldmann D, Marlin S, Denoyelle F, Waligora J, Mueller-Malesinska M, Pollak A, Ploski R, Murgia A, Orzan E, Castorina P, Ambrosetti U, Nowakowska-Szyrwinska E, Bal J, Wiszniewski W, Janecke AR, Nekahm-Heis D, Seeman P, Bendova O, Kenna MA, Frangulov A, Rehm HL, Tekin M, Incesulu A, Dahl HH, du Sart D, Jenkins L, Lucas D, Bitner-Glindzicz M, Avraham KB, Brownstein Z, del Castillo I, Moreno F, Blin N, Pfister M, Sziklai I, Toth T, Kelley PM, Cohn ES, Van Maldergem L, Hilbert P, Roux AF, Mondain M, Hoefsloot LH, Cremers CW, Löppönen T, Löppönen H, Parving A, Gronskov K, Schrijver I, Roberson J, Gualandi F, Martini A, Lina-Granade G, Pallares-Ruiz N, Correia C, Fialho G, Cryns K, Hilgert N, Van de Heyning P, Nishimura CJ, Smith RJ, Van Camp G. Snoeckx RL, et al. Am J Hum Genet. 2005 Dec;77(6):945-57. doi: 10.1086/497996. Epub 2005 Oct 19. Am J Hum Genet. 2005. PMID: 16380907 Free PMC article.

2

GJB2 (connexin 26) mutations are not a major cause of hearing loss in the Indonesian population.

Snoeckx RL, Djelantik B, Van Laer L, Van de Heyning P, Van Camp G. Snoeckx RL, et al. Am J Med Genet A. 2005 Jun 1;135(2):126-9. doi: 10.1002/ajmg.a.30726. Am J Med Genet A. 2005. PMID: 15832357

3

Mutation analysis of the GJB2 (connexin 26) gene in Egypt.

Snoeckx RL, Hassan DM, Kamal NM, Van Den Bogaert K, Van Camp G. Snoeckx RL, et al. Hum Mutat. 2005 Jul;26(1):60-1. doi: 10.1002/humu.9350. Hum Mutat. 2005. PMID: 15954104

4

A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene.

Van Camp G, Snoeckx RL, Hilgert N, van den Ende J, Fukuoka H, Wagatsuma M, Suzuki H, Smets RM, Vanhoenacker F, Declau F, Van de Heyning P, Usami S. Van Camp G, et al. Among authors: snoeckx rl. Am J Hum Genet. 2006 Sep;79(3):449-57. doi: 10.1086/506478. Epub 2006 Jun 26. Am J Hum Genet. 2006. PMID: 16909383 Free PMC article.

5

Fine mapping of autosomal dominant nonsyndromic hearing impairment DFNA21 to chromosome 6p24.1-22.3.

de Brouwer AP, Kunst HP, Krebsova A, van Asseldonk K, Reis A, Snoeckx RL, Van Camp G, Cremers CW, Cremers FP, Kremer H. de Brouwer AP, et al. Among authors: snoeckx rl. Am J Med Genet A. 2005 Aug 15;137(1):41-6. doi: 10.1002/ajmg.a.30844. Am J Med Genet A. 2005. PMID: 16007628

6

A genotype-phenotype correlation for GJB2 (connexin 26) deafness.

Cryns K, Orzan E, Murgia A, Huygen PL, Moreno F, del Castillo I, Chamberlin GP, Azaiez H, Prasad S, Cucci RA, Leonardi E, Snoeckx RL, Govaerts PJ, Van de Heyning PH, Van de Heyning CM, Smith RJ, Van Camp G. Cryns K, et al. Among authors: snoeckx rl. J Med Genet. 2004 Mar;41(3):147-54. doi: 10.1136/jmg.2003.013896. J Med Genet. 2004. PMID: 14985372 Free PMC article.

7

A novel locus for autosomal dominant non-syndromic hearing loss, DFNA31, maps to chromosome 6p21.3.

Snoeckx RL, Kremer H, Ensink RJ, Flothmann K, de Brouwer A, Smith RJ, Cremers CW, Van Camp G. Snoeckx RL, et al. J Med Genet. 2004 Jan;41(1):11-3. doi: 10.1136/jmg.2003.010702. J Med Genet. 2004. PMID: 14729819 Free PMC article.

8

A Dutch family with progressive autosomal dominant non-syndromic sensorineural hearing impairment linked to DFNA13.

Ensink RJ, Huygen PL, Snoeckx RL, Caethoven G, Van Camp G, Cremers CW. Ensink RJ, et al. Among authors: snoeckx rl. Clin Otolaryngol Allied Sci. 2001 Aug;26(4):310-6. doi: 10.1046/j.1365-2273.2001.00477.x. Clin Otolaryngol Allied Sci. 2001. PMID: 11559344

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