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Items: 1 to 20 of 177

1.
2.

A mutational hot spot in the KCNQ4 gene responsible for autosomal dominant hearing impairment.

Van Camp G, Coucke PJ, Akita J, Fransen E, Abe S, De Leenheer EM, Huygen PL, Cremers CW, Usami S.

Hum Mutat. 2002 Jul;20(1):15-9.

PMID:
12112653
3.

Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region.

Van Hauwe P, Coucke PJ, Ensink RJ, Huygen P, Cremers CW, Van Camp G.

Am J Med Genet. 2000 Jul 31;93(3):184-7.

PMID:
10925378
4.

Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing loss.

Talebizadeh Z, Kelley PM, Askew JW, Beisel KW, Smith SD.

Hum Mutat. 1999;14(6):493-501.

PMID:
10571947
5.

[KCNQ4 gene mutations affected a pedigree with autosomal dominant hereditary hearing loss].

Wang Q, Cao J, Li N, Yang Y, Wang Q, Yu L, Han D, Yang W.

Zhonghua Er Bi Yan Hou Ke Za Zhi. 2002 Oct;37(5):343-7. Chinese.

PMID:
12772453
6.

Phenotype determination guides swift genotyping of a DFNA2/KCNQ4 family with a hot spot mutation (W276S).

Topsakal V, Pennings RJ, te Brinke H, Hamel B, Huygen PL, Kremer H, Cremers CW.

Otol Neurotol. 2005 Jan;26(1):52-8.

PMID:
15699719
7.

Audiologic evidence for further genetic heterogeneity at DFNA2.

Stern RE, Lalwani AK.

Acta Otolaryngol. 2002 Oct;122(7):730-5.

PMID:
12484650
8.

Targeted high-throughput sequencing identifies pathogenic mutations in KCNQ4 in two large Chinese families with autosomal dominant hearing loss.

Wang H, Zhao Y, Yi Y, Gao Y, Liu Q, Wang D, Li Q, Lan L, Li N, Guan J, Yin Z, Han B, Zhao F, Zong L, Xiong W, Yu L, Song L, Yi X, Yang L, Petit C, Wang Q.

PLoS One. 2014 Aug 12;9(8):e103133. doi: 10.1371/journal.pone.0103133. eCollection 2014.

9.

Autosomal dominant progressive sensorineural hearing loss due to a novel mutation in the KCNQ4 gene.

Arnett J, Emery SB, Kim TB, Boerst AK, Lee K, Leal SM, Lesperance MM.

Arch Otolaryngol Head Neck Surg. 2011 Jan;137(1):54-9. doi: 10.1001/archoto.2010.234. Erratum in: Arch Otolaryngol Head Neck Surg. 2011 Jul;137(7):711.

10.

Comprehensive genetic screening of KCNQ4 in a large autosomal dominant nonsyndromic hearing loss cohort: genotype-phenotype correlations and a founder mutation.

Naito T, Nishio SY, Iwasa Y, Yano T, Kumakawa K, Abe S, Ishikawa K, Kojima H, Namba A, Oshikawa C, Usami S.

PLoS One. 2013 May 23;8(5):e63231. doi: 10.1371/journal.pone.0063231. Print 2013.

11.

Further evidence for a third deafness gene within the DFNA2 locus.

Goldstein JA, Lalwani AK.

Am J Med Genet. 2002 Apr 1;108(4):304-9.

PMID:
11920835
12.

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.

Hum Mol Genet. 1999 Jul;8(7):1321-8.

13.

Identification of novel mutations in the KCNQ4 gene of patients with nonsyndromic deafness from Taiwan.

Su CC, Yang JJ, Shieh JC, Su MC, Li SY.

Audiol Neurootol. 2007;12(1):20-6. Epub 2006 Oct 10.

PMID:
17033161
14.

Longitudinal and cross-sectional phenotype analysis in a new, large Dutch DFNA2/KCNQ4 family.

De Leenheer EM, Huygen PL, Coucke PJ, Admiraal RJ, van Camp G, Cremers CW.

Ann Otol Rhinol Laryngol. 2002 Mar;111(3 Pt 1):267-74.

PMID:
11915881
15.

KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness.

Kubisch C, Schroeder BC, Friedrich T, L├╝tjohann B, El-Amraoui A, Marlin S, Petit C, Jentsch TJ.

Cell. 1999 Feb 5;96(3):437-46.

16.

Audioprofile-directed successful mutation analysis in a DFNA2/KCNQ4 (p.Leu274His) family.

de Heer AM, Schraders M, Oostrik J, Hoefsloot L, Huygen PL, Cremers CW.

Ann Otol Rhinol Laryngol. 2011 Apr;120(4):243-8.

PMID:
21585154
17.

A mutation in Wolfram syndrome type 1 gene in a Japanese family with autosomal dominant low-frequency sensorineural hearing loss.

Noguchi Y, Yashima T, Hatanaka A, Uzawa M, Yasunami M, Kimura A, Kitamura K.

Acta Otolaryngol. 2005 Nov;125(11):1189-94.

PMID:
16353398
18.

Phenotype of DFNA11: a nonsyndromic hearing loss caused by a myosin VIIA mutation.

Tamagawa Y, Ishikawa K, Ishikawa K, Ishida T, Kitamura K, Makino S, Tsuru T, Ichimura K.

Laryngoscope. 2002 Feb;112(2):292-7.

PMID:
11889386
19.

DFNA2/KCNQ4 and its manifestations.

De Leenheer EM, Ensink RJ, Kunst HP, Marres HA, Talebizadeh Z, Declau F, Smith SD, Usami S, Van de Heyning PH, Van Camp G, Huygen PL, Cremers CW.

Adv Otorhinolaryngol. 2002;61:41-6. No abstract available.

PMID:
12408061
20.

A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype-phenotype correlation.

Kamada F, Kure S, Kudo T, Suzuki Y, Oshima T, Ichinohe A, Kojima K, Niihori T, Kanno J, Narumi Y, Narisawa A, Kato K, Aoki Y, Ikeda K, Kobayashi T, Matsubara Y.

J Hum Genet. 2006;51(5):455-60. Epub 2006 Apr 5.

PMID:
16596322
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