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Items: 1 to 20 of 175

1.

A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?

Pallares-Ruiz N, Blanchet P, Mondain M, Claustres M, Roux AF.

Eur J Hum Genet. 2002 Jan;10(1):72-6.

2.

Prevalence of DFNB1 mutations in Argentinean children with non-syndromic deafness. Report of a novel mutation in GJB2.

Gravina LP, Foncuberta ME, Prieto ME, Garrido J, Barreiro C, Chertkoff L.

Int J Pediatr Otorhinolaryngol. 2010 Mar;74(3):250-4. doi: 10.1016/j.ijporl.2009.11.014. Epub 2009 Dec 22.

PMID:
20022641
3.

A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews.

Lerer I, Sagi M, Ben-Neriah Z, Wang T, Levi H, Abeliovich D.

Hum Mutat. 2001 Nov;18(5):460.

PMID:
11668644
4.

GJB2 (connexin 26) gene mutations in Moroccan patients with autosomal recessive non-syndromic hearing loss and carrier frequency of the common GJB2-35delG mutation.

Abidi O, Boulouiz R, Nahili H, Ridal M, Alami MN, Tlili A, Rouba H, Masmoudi S, Chafik A, Hassar M, Barakat A.

Int J Pediatr Otorhinolaryngol. 2007 Aug;71(8):1239-45. Epub 2007 Jun 5.

PMID:
17553572
5.
6.

Absence of GJB6 mutations in Indian patients with non-syndromic hearing loss.

Bhalla S, Sharma R, Khandelwal G, Panda NK, Khullar M.

Int J Pediatr Otorhinolaryngol. 2011 Mar;75(3):356-9. doi: 10.1016/j.ijporl.2010.12.003. Epub 2011 Jan 11.

PMID:
21227513
7.

Autosomal recessive and sporadic deafness in Morocco: high frequency of the 35delG GJB2 mutation and absence of the 342-kb GJB6 variant.

Gazzaz B, Weil D, Raïs L, Akhyat O, Azeddoug H, Nadifi S.

Hear Res. 2005 Dec;210(1-2):80-4. Epub 2005 Oct 21.

PMID:
16243461
8.

[The principles of molecular diagnosis of recessive forms of prelingual non-syndromic hearing loss].

Wiszniewska J, Wiszniewski W, Bal J.

Med Wieku Rozwoj. 2002 Oct-Dec;6(4):309-18. Polish.

PMID:
12810983
9.

Detection of the 35delG/GJB2 and del(GJB6-D13S1830) mutations in Venezuelan patients with autosomal recessive nonsyndromic hearing loss.

Utrera R, Ridaura V, Rodríguez Y, Rojas MJ, Mago L, Angeli S, Henríquez O.

Genet Test. 2007 Winter;11(4):347-52. doi: 10.1089/gte.2006.0526.

PMID:
18294049
10.

Hearing loss features in GJB2 biallelic mutations and GJB2/GJB6 digenic inheritance in a large Italian cohort.

Cama E, Melchionda S, Palladino T, Carella M, Santarelli R, Genovese E, Benettazzo F, Zelante L, Arslan E.

Int J Audiol. 2009 Jan;48(1):12-7. doi: 10.1080/14992020802400654.

PMID:
19173109
11.
12.

A deletion involving the connexin 30 gene in nonsyndromic hearing impairment.

del Castillo I, Villamar M, Moreno-Pelayo MA, del Castillo FJ, Alvarez A, Tellería D, Menéndez I, Moreno F.

N Engl J Med. 2002 Jan 24;346(4):243-9.

13.

Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands.

Pandya A, Arnos KS, Xia XJ, Welch KO, Blanton SH, Friedman TB, Garcia Sanchez G, Liu MD XZ, Morell R, Nance WE.

Genet Med. 2003 Jul-Aug;5(4):295-303.

PMID:
12865758
14.

Absence of GJB3 and GJB6 mutations in Moroccan familial and sporadic patients with autosomal recessive non-syndromic deafness.

Nahili H, Ridal M, Boulouiz R, Abidi O, Imken L, Rouba H, Alami MN, Chafik A, Hassar M, Barakat A.

Int J Pediatr Otorhinolaryngol. 2008 Nov;72(11):1633-6. doi: 10.1016/j.ijporl.2008.07.015. Epub 2008 Sep 21.

PMID:
18809214
15.

[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
16.

Molecular screening of deafness in Algeria: high genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1F.

Ammar-Khodja F, Faugère V, Baux D, Giannesini C, Léonard S, Makrelouf M, Malek R, Djennaoui D, Zenati A, Claustres M, Roux AF.

Eur J Med Genet. 2009 Jul-Aug;52(4):174-9. doi: 10.1016/j.ejmg.2009.03.018. Epub 2009 Apr 16.

PMID:
19375528
17.

No evidence for clinical utility in investigating the connexin genes GJB2, GJB6 and GJA1 in non-syndromic hearing loss in black Africans.

Wonkam A, Bosch J, Noubiap JJ, Lebeko K, Makubalo N, Dandara C.

S Afr Med J. 2015 Jan;105(1):23-6.

PMID:
26046157
18.

Screening for monogenetic del(GJB6-D13S1830) and digenic del(GJB6-D13S1830)/GJB2 patterns of inheritance in deaf individuals from Eastern Austria.

Frei K, Ramsebner R, Lucas T, Baumgartner WD, Schoefer C, Wachtler FJ, Kirschhofer K.

Hear Res. 2004 Oct;196(1-2):115-8.

PMID:
15464308
19.

Prevalence of DFNB1 mutations in Slovak patients with non-syndromic hearing loss.

Minárik G, Tretinárová D, Szemes T, Kádasi L.

Int J Pediatr Otorhinolaryngol. 2012 Mar;76(3):400-3. doi: 10.1016/j.ijporl.2011.12.020. Epub 2012 Jan 26.

PMID:
22281373
20.

Prevalence of GJB2 mutations and the del(GJB6-D13S1830) in Argentinean non-syndromic deaf patients.

Dalamón V, Béhèran A, Diamante F, Pallares N, Diamante V, Elgoyhen AB.

Hear Res. 2005 Sep;207(1-2):43-9.

PMID:
15964725

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