140 related articles for article (PubMed ID: 14700667)
1. Two patients with severe corneal disease in KID syndrome.
Sonoda S; Uchino E; Sonoda KH; Yotsumoto S; Uchio E; Isashiki Y; Sakamoto T
Am J Ophthalmol; 2004 Jan; 137(1):181-3. PubMed ID: 14700667
[TBL] [Abstract][Full Text] [Related]
2. Ocular manifestations of keratitis-ichthyosis-deafness (KID) syndrome.
Messmer EM; Kenyon KR; Rittinger O; Janecke AR; Kampik A
Ophthalmology; 2005 Feb; 112(2):e1-6. PubMed ID: 15691545
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. 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]
6. [Successful topical cyclosporin A in the therapy of progressive vascularising keratitis in keratitis-ichthyosis-deafness (KID) syndrome (Senter syndrome)].
Derse M; Wannke E; Payer H; Rohrbach JM; Zierhut M
Klin Monbl Augenheilkd; 2002 May; 219(5):383-6. PubMed ID: 12094324
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Mutation of GJB2 in a Chinese patient with keratitis-ichthyosis-deafness syndrome and brain malformation.
Zhang XB; Wei SC; Li CX; Xu X; He YQ; Luo Q; Li J; Wang YF
Clin Exp Dermatol; 2009 Apr; 34(3):309-13. PubMed ID: 19175781
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Ocular phenotype and therapeutic interventions in keratitis-ichthyosis-deafness (KID) syndrome.
Mc Lean K; Bignotti S; Callea M; Cammarata-Scalisi F; Steger B; Armstrong D; Lagan M; Sinton J; Semeraro F; Kaye SB; Romano V; Willoughby CE
Ophthalmic Genet; 2024 Feb; 45(1):16-22. PubMed ID: 37755702
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. 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]
14. [Patient with severe corneal disease in KID syndrome].
Gómez-Faiña P; Ruiz-Viñals AT; Buil-Calvo JA; España-Albelda A; Pazos-López M; Castilla-Céspedes M
Arch Soc Esp Oftalmol; 2006 Apr; 81(4):225-7. PubMed ID: 16688648
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. KID Syndrome: report of a Scandinavian patient with connexin-26 gene mutation.
Bygum A; Betz RC; Kragballe K; Steiniche T; Peeters N; Wuyts W; Nöthen MM
Acta Derm Venereol; 2005; 85(2):152-5. PubMed ID: 15823911
[TBL] [Abstract][Full Text] [Related]
17. 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; 133A(2):128-31. PubMed ID: 15633193
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. KID syndrome in a Malaysian child with identification of novel heterozygous missense mutation GJB2 c.581T>A(p. 194Phe>Tyr).
Tang MM; Surana U; Leong KF; Pramano ZAD
Int J Dermatol; 2021 Jul; 60(7):e288-e290. PubMed ID: 33728648
[No Abstract] [Full Text] [Related]
20. 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]
[Next] [New Search]