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Items: 1 to 20 of 114

1.

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
2.

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
3.

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
4.

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
5.

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.

PMID:
10369879
6.

[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
7.

A Japanese family showing high-frequency hearing loss with KCNQ4 and TECTA mutations.

Ishikawa K, Naito T, Nishio SY, Iwasa Y, Nakamura K, Usami S, Ichimura K.

Acta Otolaryngol. 2014 Jun;134(6):557-63. doi: 10.3109/00016489.2014.890740. Epub 2014 Mar 21.

PMID:
24655070
8.

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
9.

KCNQ4 mutations associated with nonsyndromic progressive sensorineural hearing loss.

Nie L.

Curr Opin Otolaryngol Head Neck Surg. 2008 Oct;16(5):441-4. doi: 10.1097/MOO.0b013e32830f4aa3. Review.

10.

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
11.

The phenotype of DFNA13/COL11A2: nonsyndromic autosomal dominant mid-frequency and high-frequency sensorineural hearing impairment.

Kunst H, Huybrechts C, Marres H, Huygen P, Van Camp G, Cremers C.

Am J Otol. 2000 Mar;21(2):181-7.

PMID:
10733181
12.

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.

13.

A novel pore-region mutation, c.887G > A (p.G296D) in KCNQ4, causing hearing loss in a Chinese family with autosomal dominant non-syndromic deafness 2.

Huang B, Liu Y, Gao X, Xu J, Dai P, Zhu Q, Yuan Y.

BMC Med Genet. 2017 Mar 24;18(1):36. doi: 10.1186/s12881-017-0396-5.

14.
15.

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.

16.

Speech recognition scores related to age and degree of hearing impairment in DFNA2/KCNQ4 and DFNA9/COCH.

Bom SJ, De Leenheer EM, Lemaire FX, Kemperman MH, Verhagen WI, Marres HA, Kunst HP, Ensink RJ, Bosman AJ, Van Camp G, Cremers FP, Huygen PL, Cremers CW.

Arch Otolaryngol Head Neck Surg. 2001 Sep;127(9):1045-8.

PMID:
11556850
17.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.

PMID:
19728970
18.

Two novel missense mutations in the TECTA gene in Korean families with autosomal dominant nonsyndromic hearing loss.

Sagong B, Park R, Kim YH, Lee KY, Baek JI, Cho HJ, Cho IJ, Kim UK, Lee SH.

Ann Clin Lab Sci. 2010 Fall;40(4):380-5.

PMID:
20947814
19.

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
20.

Compound heterozygous mutations in KvLQT1 cause Jervell and Lange-Nielsen syndrome.

Wang Z, Li H, Moss AJ, Robinson J, Zareba W, Knilans T, Bowles NE, Towbin JA.

Mol Genet Metab. 2002 Apr;75(4):308-16.

PMID:
12051962

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