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Results: 1 to 20 of 101

Similar articles for PubMed (Select 24785414)

1.

Revertant mutation releases confined lethal mutation, opening Pandora's box: a novel genetic pathogenesis.

Ogawa Y, Takeichi T, Kono M, Hamajima N, Yamamoto T, Sugiura K, Akiyama M.

PLoS Genet. 2014 May 1;10(5):e1004276. doi: 10.1371/journal.pgen.1004276. eCollection 2014 May.

2.

A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E.

Jonard L, Feldmann D, Parsy C, Freitag S, Sinico M, Koval C, Grati M, Couderc R, Denoyelle F, Bodemer C, Marlin S, Hadj-Rabia S.

Eur J Med Genet. 2008 Jan-Feb;51(1):35-43. Epub 2007 Oct 4.

PMID:
18024254
3.
4.

Keratitis-ichthyosis-deafness syndrome: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients.

Mazereeuw-Hautier J, Bitoun E, Chevrant-Breton J, Man SY, Bodemer C, Prins C, Antille C, Saurat JH, Atherton D, Harper JI, Kelsell DP, Hovnanian A.

Br J Dermatol. 2007 May;156(5):1015-9. Epub 2007 Mar 23. Review.

PMID:
17381453
5.

GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form.

Janecke AR, Hennies HC, Günther B, Gansl G, Smolle J, Messmer EM, Utermann G, Rittinger O.

Am J Med Genet A. 2005 Mar 1;133A(2):128-31.

PMID:
15633193
6.

HID and KID syndromes are associated with the same connexin 26 mutation.

van Geel M, van Steensel MA, Küster W, Hennies HC, Happle R, Steijlen PM, König A.

Br J Dermatol. 2002 Jun;146(6):938-42.

PMID:
12072059
7.

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
8.

A novel dominant and a de novo mutation in the GJB2 gene (connexin-26) cause keratitis-ichthyosis-deafness syndrome: implication for cochlear implantation.

Arndt S, Aschendorff A, Schild C, Beck R, Maier W, Laszig R, Birkenhäger R.

Otol Neurotol. 2010 Feb;31(2):210-5. doi: 10.1097/MAO.0b013e3181cc09cd.

PMID:
20101161
9.

A rare connexin 26 mutation in a patient with a forme fruste of keratitis-ichthyosis-deafness (KID) syndrome.

Neoh CY, Chen H, Ng SK, Lane EB, Common JE.

Int J Dermatol. 2009 Oct;48(10):1078-81.

PMID:
19785089
10.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

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

PMID:
19728970
11.

[Connexin 26 mutation and keratitis-ichthyosis-deafness (KID) syndrome].

Binder B, Hennies HC, Kraschl R, Smolle J.

J Dtsch Dermatol Ges. 2005 Feb;3(2):105-8. German.

PMID:
16351012
12.

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
13.

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.

14.

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
15.

Newborn genetic screening for high risk deafness-associated mutations with a new Tetra-primer ARMS PCR kit.

Han B, Zong L, Li Q, Zhang Z, Wang D, Lan L, Zhang J, Zhao Y, Wang Q.

Int J Pediatr Otorhinolaryngol. 2013 Sep;77(9):1440-5. doi: 10.1016/j.ijporl.2013.05.040. Epub 2013 Jun 29.

PMID:
23815884
16.

Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome.

Richard G, Rouan F, Willoughby CE, Brown N, Chung P, Ryynänen M, Jabs EW, Bale SJ, DiGiovanna JJ, Uitto J, Russell L.

Am J Hum Genet. 2002 May;70(5):1341-8. Epub 2002 Mar 22.

17.

Connexin 26 35delG does not represent a mutational hotspot.

Rothrock CR, Murgia A, Sartorato EL, Leonardi E, Wei S, Lebeis SL, Yu LE, Elfenbein JL, Fisher RA, Friderici KH.

Hum Genet. 2003 Jul;113(1):18-23. Epub 2003 Apr 9.

PMID:
12684873
18.

Spectrum of GJB2 mutations in a cohort of nonsyndromic hearing loss cases from the Kingdom of Saudi Arabia.

Al-Qahtani MH, Baghlab I, Chaudhary AG, Abuzenadah AM, Bamanie A, Daghistani KJ, Safieh M, Fida L, Dallol A.

Genet Test Mol Biomarkers. 2010 Feb;14(1):79-83. doi: 10.1089/gtmb.2009.0111.

PMID:
19929407
19.

Spectrum and frequencies of mutations in the GJB2 (Cx26) gene among 156 Czech patients with pre-lingual deafness.

Seeman P, Malíková M, Rasková D, Bendová O, Groh D, Kubálková M, Sakmaryová I, Seemanová E, Kabelka Z.

Clin Genet. 2004 Aug;66(2):152-7.

PMID:
15253766
20.

Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans.

Zelante L, Gasparini P, Estivill X, Melchionda S, D'Agruma L, Govea N, Milá M, Monica MD, Lutfi J, Shohat M, Mansfield E, Delgrosso K, Rappaport E, Surrey S, Fortina P.

Hum Mol Genet. 1997 Sep;6(9):1605-9.

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