These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

90 related articles for article (PubMed ID: 24814571)

  • 21. [A follow-up study of abnormal mutation in neonatal deafness gene screening].
    Liu QM; Tian Y; Yu JJ; He QQ; Peng L; Guo XQ; Li DY; Chen T
    Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2019 Dec; 54(12):881-887. PubMed ID: 31887812
    [No Abstract]   [Full Text] [Related]  

  • 22. [The mutation spectrum of the GJB2 gene in Belarussian patients with hearing loss. Results of pilot genetic screening of hearing impairment in newborns].
    Bliznets EA; Marcul' DN; Khorov OG; Markova TG; Poliakov AV
    Genetika; 2014 Feb; 50(2):214-21. PubMed ID: 25711030
    [TBL] [Abstract][Full Text] [Related]  

  • 23. [The sequencing analyze of 915 newborn with GJB2 heterozygous mutation in Beijing].
    Cui Qingjia ; Huang Lihui ; Ruan Yu ; Du Yanshun ; Zhao Liping ; Yang Jun ; Zhang Wei
    Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2015 Jul; 29(13):1164-7. PubMed ID: 26540915
    [TBL] [Abstract][Full Text] [Related]  

  • 24. GJB2 mutations in hearing impairment: identification of a broad clinical spectrum for improved genetic counseling.
    Frei K; Ramsebner R; Lucas T; Hamader G; Szuhai K; Weipoltshammer K; Baumgartner WD; Wachtler FJ; Kirschhofer K
    Laryngoscope; 2005 Mar; 115(3):461-5. PubMed ID: 15744158
    [TBL] [Abstract][Full Text] [Related]  

  • 25. M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetrance.
    Pollak A; Skórka A; Mueller-Malesińska M; Kostrzewa G; Kisiel B; Waligóra J; Krajewski P; Ołdak M; Korniszewski L; Skarzyński H; Ploski R
    Am J Med Genet A; 2007 Nov; 143A(21):2534-43. PubMed ID: 17935238
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Mutation detection in GJB2 gene among Malays with non-syndromic hearing loss.
    Zainal SA; Md Daud MK; Abd Rahman N; Zainuddin Z; Alwi Z
    Int J Pediatr Otorhinolaryngol; 2012 Aug; 76(8):1175-9. PubMed ID: 22613756
    [TBL] [Abstract][Full Text] [Related]  

  • 27. [Progressive hearing impairment with deletion in GJB2 gene despite normal newborn hearing screening].
    Prera N; Löhle E; Birkenhäger R
    Laryngorhinootologie; 2014 Apr; 93(4):244-8. PubMed ID: 24022696
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Compound heterozygosity for dominant and recessive GJB2 mutations in a Tunisian family and association with successful cochlear implant outcome.
    Riahi Z; Zainine R; Mellouli Y; Hannachi R; Bouyacoub Y; Laroussi N; Beltaief N; Kefi R; Romdhane L; Bonnet C; Abdelhak S; Besbes G
    Int J Pediatr Otorhinolaryngol; 2013 Sep; 77(9):1481-4. PubMed ID: 23856378
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Characterization of a knock-in mouse model of the homozygous p.V37I variant in Gjb2.
    Chen Y; Hu L; Wang X; Sun C; Lin X; Li L; Mei L; Huang Z; Yang T; Wu H
    Sci Rep; 2016 Sep; 6():33279. PubMed ID: 27623246
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Occurrence of del(GIB6-D13S1830) mutation in Italian non-syndromic hearing loss patients carrying a single GJB2 mutated allele.
    Gualandi E; Ravani A; Berto A; Burdo S; Trevisi P; Ferlini A; Martini A; Calzolari E
    Acta Otolaryngol Suppl; 2004 May; (552):29-34. PubMed ID: 15219044
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Minimally invasive genetic screen for GJB2 related deafness using dried blood spots.
    Nagy AL; Csáki R; Klem J; Rovó L; Tóth F; Tálosi G; Jóri J; Kovács K; Kiss JG
    Int J Pediatr Otorhinolaryngol; 2010 Jan; 74(1):75-81. PubMed ID: 19939467
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Clinical features of patients with GJB2 (connexin 26) mutations: severity of hearing loss is correlated with genotypes and protein expression patterns.
    Oguchi T; Ohtsuka A; Hashimoto S; Oshima A; Abe S; Kobayashi Y; Nagai K; Matsunaga T; Iwasaki S; Nakagawa T; Usami SI
    J Hum Genet; 2005; 50(2):76-83. PubMed ID: 15700112
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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; 281(23):2211-6. PubMed ID: 10376574
    [TBL] [Abstract][Full Text] [Related]  

  • 34. High-throughput screening for GJB2 mutations--its clinical application to genetic testing in prelingual deafness screening for GJB2 mutations.
    Sugata A; Fukushima K; Sugata K; Fukuda S; Kimura N; Gunduz M; Kasai N; Usami S; Smith RJ; Nishizaki K
    Auris Nasus Larynx; 2002 Jul; 29(3):231-9. PubMed ID: 12167443
    [TBL] [Abstract][Full Text] [Related]  

  • 35. A genotype-phenotype correlation for GJB2 (connexin 26) deafness.
    Cryns K; Orzan E; Murgia A; Huygen PL; Moreno F; del Castillo I; Chamberlin GP; Azaiez H; Prasad S; Cucci RA; Leonardi E; Snoeckx RL; Govaerts PJ; Van de Heyning PH; Van de Heyning CM; Smith RJ; Van Camp G
    J Med Genet; 2004 Mar; 41(3):147-54. PubMed ID: 14985372
    [TBL] [Abstract][Full Text] [Related]  

  • 36. [Analysis of GJB2 gene and mitochondrial DNA A1555G mutations in 16 families with non-syndromic hearing loss].
    Wang W; Cheng HB; Yang N; Shi YC; Liu JZ; Li Q; Yang SM; Shen LY; Liu MJ; Chen Y; Li H
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2012 Aug; 29(4):388-92. PubMed ID: 22875492
    [TBL] [Abstract][Full Text] [Related]  

  • 37. The contribution of GJB2 mutations to slight or mild hearing loss in Australian elementary school children.
    Dahl HH; Tobin SE; Poulakis Z; Rickards FW; Xu X; Gillam L; Williams J; Saunders K; Cone-Wesson B; Wake M
    J Med Genet; 2006 Nov; 43(11):850-5. PubMed ID: 16840571
    [TBL] [Abstract][Full Text] [Related]  

  • 38. High incidence of GJB2 mutations during screening of newborns for hearing loss in Austria.
    Ramsebner R; Volker R; Lucas T; Hamader G; Weipoltshammer K; Baumgartner WD; Wachtler FJ; Kirschhofer K; Frei K
    Ear Hear; 2007 Jun; 28(3):298-301. PubMed ID: 17485979
    [TBL] [Abstract][Full Text] [Related]  

  • 39. GJB2 and GJB6 mutations in 165 Danish patients showing non-syndromic hearing impairment.
    Grønskov K; Larsen LA; Rendtorff ND; Parving A; Nørgaard-Pedersen B; Brøndum-Nielsen K
    Genet Test; 2004; 8(2):181-4. PubMed ID: 15345117
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Prevalence of 35delG and Met34Thr GJB2 variants in Portuguese samples.
    Dória M; Neto AP; Santos AC; Barros H; Fernandes S; Moura CP
    Int J Pediatr Otorhinolaryngol; 2015 Dec; 79(12):2187-90. PubMed ID: 26482070
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 5.