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Items: 1 to 20 of 102

1.

An unusual mucocutaneous syndrome with sensorineural deafness due to connexin 26 mutations.

Ibáñez MM, Alcalde MM, Jiménez MR, Muñoz MD, Díez-Delgado FJ.

Pediatr Dermatol. 2013 Nov-Dec;30(6):e138-42. doi: 10.1111/pde.12051. Epub 2013 Feb 27.

PMID:
23442195
2.

A novel GJB2 (connexin 26) mutation, F142L, in a patient with unusual mucocutaneous findings and deafness.

Brown CW, Levy ML, Flaitz CM, Reid BS, Manolidis S, Hebert AA, Bender MM, Heilstedt HA, Plunkett KS, Fang P, Roa BB, Chung P, Tang HY, Richard G, Alford RL.

J Invest Dermatol. 2003 Nov;121(5):1221-3. No abstract available.

3.

Connexin mutations in Brazilian patients with skin disorders with or without hearing loss.

Alexandrino F, de Oliveira CA, Magalhães RF, Florence ME, de Souza EM, Sartorato EL.

Am J Med Genet A. 2009 Feb 15;149A(4):681-4. doi: 10.1002/ajmg.a.32765.

PMID:
19283857
4.

[Non-invasive screening for GJB2 mutations in buccal smears for the diagnosis of inherited hearing impairment].

Schade G, Kothe C, Ruge G, Hess M, Meyer CG.

Laryngorhinootologie. 2003 Jun;82(6):397-401. German.

PMID:
12851846
5.

[Nonsyndromic sensorineural deafness--analysis of etiology in relatives].

Nowakowska-Szyrwinska E, Sobieszczanska-Radoszewska L.

Med Wieku Rozwoj. 2003 Jan-Mar;7(1):21-5. Polish.

PMID:
13130165
6.

Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness.

Green GE, Scott DA, McDonald JM, Woodworth GG, Sheffield VC, Smith RJ.

JAMA. 1999 Jun 16;281(23):2211-6.

PMID:
10376574
7.

Recurrent mutations in the deafness gene GJB2 (connexin 26) in British Asian families.

Rickard S, Kelsell DP, Sirimana T, Rajput K, MacArdle B, Bitner-Glindzicz M.

J Med Genet. 2001 Aug;38(8):530-3. No abstract available.

8.

The novel c.247_249delTTC (p.F83del) GJB2 mutation in a family with prelingual sensorineural deafness.

Petersen MB, Grigoriadou M, Koutroumpe M, Kokotas H.

Int J Pediatr Otorhinolaryngol. 2012 Jul;76(7):969-71. doi: 10.1016/j.ijporl.2012.03.007. Epub 2012 Apr 6.

PMID:
22484064
9.
10.
11.

A novel frameshift mutation (c.405delC) in the GJB2 gene associated with autosomal recessive hearing loss in two Tunisian families.

Riahi Z, Chahed H, Jaafoura H, Zainine R, Messaoud O, Naili M, Nagara M, Hammami H, Laroussi N, Bouyacoub Y, Kefi R, Bonnet C, Besbes G, Abdelhak S.

Int J Pediatr Otorhinolaryngol. 2013 Sep;77(9):1485-8. doi: 10.1016/j.ijporl.2013.06.015. Epub 2013 Jul 12.

PMID:
23856379
12.

[Pseudodominants of two recessive connexin mutations in non-syndromic sensorineural hearing loss?].

Birkenhäger R, Zimmer AJ, Maier W, Schipper J.

Laryngorhinootologie. 2006 Mar;85(3):191-6. German.

PMID:
16547895
13.

Connexin 26 mutation in keratitis-ichthyosis-deafness (KID) syndrome in mother and daughter with combined conductive and sensorineural hearing loss.

Kelly B, Lozano A, Altenberg G, Makishima T.

Int J Dermatol. 2008 May;47(5):443-7. doi: 10.1111/j.1365-4632.2008.03603.x.

PMID:
18412859
14.

Extending the phenotypic spectrum of keratitis-ichthyosis-deafness syndrome: report of a patient with GJB2 (G12R) Connexin 26 mutation and unusual clinical findings.

Lazic T, Li Q, Frank M, Uitto J, Zhou LH.

Pediatr Dermatol. 2012 May-Jun;29(3):349-57. doi: 10.1111/j.1525-1470.2011.01425.x. Epub 2011 Oct 20.

PMID:
22011219
15.

A novel missense mutation in the second extracellular domain of GJB2, p.Ser183Phe, causes a syndrome of focal palmoplantar keratoderma with deafness.

de Zwart-Storm EA, van Geel M, van Neer PA, Steijlen PM, Martin PE, van Steensel MA.

Am J Pathol. 2008 Oct;173(4):1113-9. doi: 10.2353/ajpath.2008.080049. Epub 2008 Sep 11.

16.

[The audiological phenotype and the prevalence of GJB2-related sensorineural loss of hearing in the infants suffering acoustic disturbances].

Lalaiants MR, Markova TG, Bakhshinian VV, Bliznets EA, Poliakov AV, Tavartikiladze GA.

Vestn Otorinolaringol. 2014;(2):37-43. Russian.

PMID:
24781170
17.

Connexin gene mutations among Ugandan patients with nonsyndromic sensorineural hearing loss.

Javidnia H, Carson N, Awubwa M, Byaruhanga R, Mack D, Vaccani JP.

Laryngoscope. 2014 Sep;124(9):E373-6. doi: 10.1002/lary.24697. Epub 2014 May 2.

PMID:
24706568
18.

Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2.

Richard G, Brown N, Ishida-Yamamoto A, Krol A.

J Invest Dermatol. 2004 Nov;123(5):856-63.

19.

Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome.

Yotsumoto S, Hashiguchi T, Chen X, Ohtake N, Tomitaka A, Akamatsu H, Matsunaga K, Shiraishi S, Miura H, Adachi J, Kanzaki T.

Br J Dermatol. 2003 Apr;148(4):649-53. Review.

PMID:
12752120
20.

Prevalence of Connexin 26 (GJB2) and Pendred (SLC26A4) mutations in a population of adult cochlear implant candidates.

Hochman JB, Stockley TL, Shipp D, Lin VY, Chen JM, Nedzelski JM.

Otol Neurotol. 2010 Aug;31(6):919-22. doi: 10.1097/MAO.0b013e3181e3d324.

PMID:
20601923

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