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 *

171 related articles for article (PubMed ID: 18423892)

  • 1. Cochlear implantation and connexin expression in the child with keratitis-ichthyosis-deafness syndrome.
    Choung YH; Shin YR; Kim HJ; Kim YC; Ahn JH; Choi SJ; Jeong SY; Park K
    Int J Pediatr Otorhinolaryngol; 2008 Jun; 72(6):911-5. PubMed ID: 18423892
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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. PubMed ID: 20101161
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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. PubMed ID: 18412859
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Cochlear implantation in keratitis-ichthyosis-deafness syndrome: 10-year follow-up of two patients.
    Smyth CM; Sinnathuray AR; Hughes AE; Toner JG
    Cochlear Implants Int; 2012 Feb; 13(1):54-9. PubMed ID: 22340753
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Keratitis-ichthyosis-deafness syndrome-associated Cx26 mutants produce nonfunctional gap junctions but hyperactive hemichannels when co-expressed with wild type Cx43.
    García IE; Maripillán J; Jara O; Ceriani R; Palacios-Muñoz A; Ramachandran J; Olivero P; Perez-Acle T; González C; Sáez JC; Contreras JE; Martínez AD
    J Invest Dermatol; 2015 May; 135(5):1338-1347. PubMed ID: 25625422
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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. PubMed ID: 12752120
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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. PubMed ID: 11912510
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Cochleosaccular dysplasia associated with a connexin 26 mutation in keratitis-ichthyosis-deafness syndrome.
    Griffith AJ; Yang Y; Pryor SP; Park HJ; Jabs EW; Nadol JB; Russell LJ; Wasserman DI; Richard G; Adams JC; Merchant SN
    Laryngoscope; 2006 Aug; 116(8):1404-8. PubMed ID: 16885744
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A novel connexin 26 gene mutation associated with features of the keratitis-ichthyosis-deafness syndrome and the follicular occlusion triad.
    Montgomery JR; White TW; Martin BL; Turner ML; Holland SM
    J Am Acad Dermatol; 2004 Sep; 51(3):377-82. PubMed ID: 15337980
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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. PubMed ID: 19785089
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A report of GJB2 (N14K) Connexin 26 mutation in two patients--a new subtype of KID syndrome?
    Lazic T; Horii KA; Richard G; Wasserman DI; Antaya RJ
    Pediatr Dermatol; 2008; 25(5):535-40. PubMed ID: 18950394
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Neurotological and neuroanatomical changes in the connexin-26-related HID/KID syndrome.
    Todt I; Hennies HC; Küster W; Smolle J; Rademacher G; Mutze S; Basta D; Eisenschenk A; Ernst A
    Audiol Neurootol; 2006; 11(4):242-8. PubMed ID: 16679758
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Heterozygous p.Asp50Asn mutation in the GJB2 gene in two Cameroonian patients with keratitis-ichthyosis-deafness (KID) syndrome.
    Wonkam A; Noubiap JJ; Bosch J; Dandara C; Toure GB
    BMC Med Genet; 2013 Aug; 14():81. PubMed ID: 23924173
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Connexin 26 (GJB2) mutation in an Argentinean patient with keratitis-ichthyosis-deafness (KID) syndrome: a case report.
    Dalamón VK; Buonfiglio P; Larralde M; Craig P; Lotersztein V; Choate K; Pallares N; Diamante V; Elgoyhen AB
    BMC Med Genet; 2016 May; 17(1):37. PubMed ID: 27141831
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [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. PubMed ID: 16351012
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Cochlear implantation in children with keratitis-ichthyosis-deafness (KID) syndrome: outcomes in three cases.
    Barker EJ; Briggs RJ
    Cochlear Implants Int; 2009 Sep; 10(3):166-73. PubMed ID: 19023871
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Genetic heterogeneity of KID syndrome: identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichia.
    Jan AY; Amin S; Ratajczak P; Richard G; Sybert VP
    J Invest Dermatol; 2004 May; 122(5):1108-13. PubMed ID: 15140211
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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; 29(3):349-57. PubMed ID: 22011219
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis-ichthyosis-deafness (KID) syndrome.
    Koppelhus U; Tranebjaerg L; Esberg G; Ramsing M; Lodahl M; Rendtorff ND; Olesen HV; Sommerlund M
    Clin Exp Dermatol; 2011 Mar; 36(2):142-8. PubMed ID: 20846357
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Diagnostics of keratitis-ichthyosis-deafness syndrome (KID- syndrome)].
    Markova TG; Brazhkina NB; Bliznets EV; Poliakov AV; Tavartkiladze GA
    Vestn Otorinolaringol; 2012; (3):58-61. PubMed ID: 22951689
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.