252 related articles for article (PubMed ID: 25393658)
1. Autosomal dominant hearing loss resulting from p.R75Q mutation in the GJB2 gene: nonsyndromic presentation in a South Indian family.
Pavithra A; Selvakumari M; Nityaa V; Sharanya N; Ramakrishnan R; Narasimhan M; Srisailapathy CR
Ann Hum Genet; 2015 Jan; 79(1):76-82. PubMed ID: 25393658
[TBL] [Abstract][Full Text] [Related]
2. Rare compound heterozygosity involving dominant and recessive mutations of GJB2 gene in an assortative mating hearing impaired Indian family.
Pavithra A; Chandru J; Jeffrey JM; Karthikeyen NP; Srisailapathy CRS
Eur Arch Otorhinolaryngol; 2017 Jan; 274(1):119-125. PubMed ID: 27481527
[TBL] [Abstract][Full Text] [Related]
3. Hereditary palmoplantar keratoderma and deafness resulting from genetic mutation of Connexin 26.
Lee JY; In SI; Kim HJ; Jeong SY; Choung YH; Kim YC
J Korean Med Sci; 2010 Oct; 25(10):1539-42. PubMed ID: 20890442
[TBL] [Abstract][Full Text] [Related]
4. Autosomal dominant prelingual hearing loss with palmoplantar keratoderma syndrome: Variability in clinical expression from mutations of R75W and R75Q in the GJB2 gene.
Birkenhäger R; Lüblinghoff N; Prera E; Schild C; Aschendorff A; Arndt S
Am J Med Genet A; 2010 Jul; 152A(7):1798-802. PubMed ID: 20583176
[TBL] [Abstract][Full Text] [Related]
5. [Autosomal dominant hearing loss resulting from mutation in the GJB2 gene:nonsyndromic presentation in a Chinese family].
Dai X; Li J; Hu XJ; Tong J; Cai WQ
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2016 Dec; 30(24):1939-1941;1945. PubMed ID: 29798269
[No Abstract] [Full Text] [Related]
6. The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family.
Uyguner O; Tukel T; Baykal C; Eris H; Emiroglu M; Hafiz G; Ghanbari A; Baserer N; Yuksel-Apak M; Wollnik B
Clin Genet; 2002 Oct; 62(4):306-9. PubMed ID: 12372058
[TBL] [Abstract][Full Text] [Related]
7. R75Q de novo dominant mutation of GJB2 in a Chinese family with hearing loss and palmoplantar keratoderma.
Jiang SJ; Di ZH; Huang D; Zhang JB; Zhang YY; Li SQ; He R
Int J Pediatr Otorhinolaryngol; 2014 Sep; 78(9):1461-6. PubMed ID: 24975403
[TBL] [Abstract][Full Text] [Related]
8. Intra-familial phenotypic variability in a Moroccan family with hearing loss and palmoplantar keratoderma (PPK).
Bousfiha A; Bakhchane A; Elrharchi S; Dehbi H; Kabine M; Nadifi S; Charoute H; Barakat A
Curr Res Transl Med; 2016; 64(2):61-4. PubMed ID: 27316387
[TBL] [Abstract][Full Text] [Related]
9. Functional analysis of R75Q mutation in the gene coding for Connexin 26 identified in a family with nonsyndromic hearing loss.
Piazza V; Beltramello M; Menniti M; Colao E; Malatesta P; Argento R; Chiarella G; Gallo LV; Catalano M; Perrotti N; Mammano F; Cassandro E
Clin Genet; 2005 Aug; 68(2):161-6. PubMed ID: 15996214
[TBL] [Abstract][Full Text] [Related]
10. [The study of GJB2 dominant mutaion distribution in Chinese deafness patient and the analysis of phenotype].
Huang S; Huang B; Yuan Y; Wang G; Dai P
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2014 Nov; 28(22):1744-7. PubMed ID: 25752103
[TBL] [Abstract][Full Text] [Related]
11. Three novel GJB2 (connexin 26) variants associated with autosomal dominant syndromic and nonsyndromic hearing loss.
DeMille D; Carlston CM; Tam OH; Palumbos JC; Stalker HJ; Mao R; Zori RT; Viskochil DH; Park AH; Carey JC
Am J Med Genet A; 2018 Apr; 176(4):945-950. PubMed ID: 29575629
[TBL] [Abstract][Full Text] [Related]
12. G130V de novo mutation in an Iranian pedigree with nonsyndromic hearing loss without palmoplantar keratoderma.
Babanejad M; Zarandy MM; Nikzat N; Bazazzadegan N; Arzhangi S; Mohseni M; Kahrizi K; Najmabadi H
Int J Pediatr Otorhinolaryngol; 2019 Nov; 126():109607. PubMed ID: 31419744
[TBL] [Abstract][Full Text] [Related]
13. New evidence for the correlation of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma.
Iossa S; Chinetti V; Auletta G; Laria C; De Luca M; Rienzo M; Giannini P; Delfino M; Ciccodicola A; Marciano E; Franzé A
Am J Med Genet A; 2009 Feb; 149A(4):685-8. PubMed ID: 18688874
[TBL] [Abstract][Full Text] [Related]
14. A mild phenotype of sensorineural hearing loss and palmoplantar keratoderma caused by a novel GJB2 dominant mutation.
Stanghellini I; Genovese E; Palma S; Falcinelli C; Presutti L; Percesepe A
Acta Otorhinolaryngol Ital; 2017 Aug; 37(4):308-311. PubMed ID: 28872160
[TBL] [Abstract][Full Text] [Related]
15. Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family.
Kelsell DP; Wilgoss AL; Richard G; Stevens HP; Munro CS; Leigh IM
Eur J Hum Genet; 2000 Jun; 8(6):469-72. PubMed ID: 10888284
[TBL] [Abstract][Full Text] [Related]
16. A novel dominant missense mutation--D179N--in the GJB2 gene (Connexin 26) associated with non-syndromic hearing loss.
Primignani P; Castorina P; Sironi F; Curcio C; Ambrosetti U; Coviello DA
Clin Genet; 2003 Jun; 63(6):516-21. PubMed ID: 12786758
[TBL] [Abstract][Full Text] [Related]
17. Role of DFNB1 mutations in hereditary hearing loss among assortative mating hearing impaired families from South India.
Amritkumar P; Jeffrey JM; Chandru J; Vanniya S P; Kalaimathi M; Ramakrishnan R; Karthikeyen NP; Srikumari Srisailapathy CR
BMC Med Genet; 2018 Jun; 19(1):105. PubMed ID: 29921236
[TBL] [Abstract][Full Text] [Related]
18. The GJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafness.
Feldmann D; Denoyelle F; Blons H; Lyonnet S; Loundon N; Rouillon I; Hadj-Rabia S; Petit C; Couderc R; Garabédian EN; Marlin S
Am J Med Genet A; 2005 Aug; 137(2):225-7. PubMed ID: 16059934
[No Abstract] [Full Text] [Related]
19. A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss.
Morlé L; Bozon M; Alloisio N; Latour P; Vandenberghe A; Plauchu H; Collet L; Edery P; Godet J; Lina-Granade G
J Med Genet; 2000 May; 37(5):368-70. PubMed ID: 10807696
[TBL] [Abstract][Full Text] [Related]
20. [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. PubMed ID: 16547895
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
