180 related articles for article (PubMed ID: 22951689)
1. [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]
2. 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]
3. 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]
4. [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]
5. More than keratitis, ichthyosis, and deafness: Multisystem effects of lethal GJB2 mutations.
Lilly E; Bunick CG; Maley AM; Zhang S; Spraker MK; Theos AJ; Vivar KL; Seminario-Vidal L; Bennett AE; Sidbury R; Ogawa Y; Akiyama M; Binder B; Hadj-Rabia S; Morotti RA; Glusac EJ; Choate KA; Richard G; Milstone LM
J Am Acad Dermatol; 2019 Mar; 80(3):617-625. PubMed ID: 30287322
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. 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. PubMed ID: 17381453
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 19785089
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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; 51(1):35-43. PubMed ID: 18024254
[TBL] [Abstract][Full Text] [Related]
12. Phenotype in a patient with p.D50N mutation in GJB2 gene resemble both KID and Clouston syndromes.
Markova TG; Brazhkina NB; Bliznech EA; Bakhshinyan VV; Polyakov AV; Tavartkiladze GA
Int J Pediatr Otorhinolaryngol; 2016 Feb; 81():10-4. PubMed ID: 26810281
[TBL] [Abstract][Full Text] [Related]
13. Keratitis-Ichthyosis-Deafness Syndrome: Early Death Caused by the GJB2 Mutation p.Gly12Arg.
Godillot C; Severino-Freire M; Michaud V; Boralevi F; Labrèze C; Guigonis V; Onnis G; Morice-Picard F; Mazereeuw-Hautier J
Acta Derm Venereol; 2019 Sep; 99(10):921-922. PubMed ID: 31099403
[No Abstract] [Full Text] [Related]
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. PubMed ID: 18412859
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. 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]
18. 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]
19. 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]
20. 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]
[Next] [New Search]
