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keratitis ichthyosis deafness syndrome相关文献:
Keratitis-ichthyosis-deafness syndrome: A comprehensive review of cutaneous and systemic manifestations.
Alsabbagh MM.
Pediatr Dermatol. 2023 Jan;40(1):19-27. doi: 10.1111/pde.15201. Epub 2022 Nov 29.
PMID:36444857
Keratitis-ichthyosis-deafness syndrome and hidradenitis suppurativa.
Travis L, Ou Yang J, Andersen RK, Skovby F, Jemec GBE, Saunte DM.
JAAD Case Rep. 2023 Jun 15;38:158-162. doi: 10.1016/j.jdcr.2023.06.003. eCollection 2023 Aug.
PMID:37555193
Keratitis-ichthyosis-deafness Syndrome with Heterozygous p.D50N in the GJB2 Gene in Two Serbian Adult Patients.
Kalezić T, Vuković I, Stojković M, Stanojlović S, Karanović J, Brajušković G, Savić-Pavićević D.
Balkan J Med Genet. 2023 Mar 1;25(1):79-84. doi: 10.2478/bjmg-2022-0014. eCollection 2022 Jun.
PMID:36880041
Antenatal Findings of Keratitis-Ichthyosis-Deafness Syndrome.
Okmen F, Hortu I, Jafarova U, Imamoglu M, Ekici H, Ergenoglu AM.
J Obstet Gynaecol Can. 2020 Apr;42(4):504-506. doi: 10.1016/j.jogc.2019.06.005. Epub 2019 Aug 14.
PMID:31421982
Phenotypic spectrum of autosomal recessive Keratitis-Ichthyosis-Deafness Syndrome (KIDAR) due to mutations in AP1B1.
Faghihi F, Khamirani HJ, Zoghi S, Kamal N, Yeganeh BS, Dianatpour M, Bagher Tabei SM, Dastgheib SA.
Eur J Med Genet. 2022 Mar;65(3):104449. doi: 10.1016/j.ejmg.2022.104449. Epub 2022 Feb 7.
PMID:35144013
Keratitis-ichthyosis-deafness syndrome with lethal p.Ala88Val variant and severe hypercalcemia.
López-Sundh AE, Escribano-Palomino E, Feito-Rodríguez M, Tenorio J, Brizzi ME, Krasnovska Zayets K, Servera-Negra G, de Lucas-Laguna R.
Am J Med Genet A. 2023 Jan;191(1):253-258. doi: 10.1002/ajmg.a.63005. Epub 2022 Oct 26.
PMID:36286624
Skin Cancer Associated Genodermatoses: A Literature Review.
Schierbeck J, Vestergaard T, Bygum A.
Acta Derm Venereol. 2019 Apr 1;99(4):360-369. doi: 10.2340/00015555-3123.
PMID:30653245
Aberrant Cx26 hemichannels and keratitis-ichthyosis-deafness syndrome: insights into syndromic hearing loss.
Sanchez HA, Verselis VK.
Front Cell Neurosci. 2014 Oct 27;8:354. doi: 10.3389/fncel.2014.00354. eCollection 2014.
PMID:25386120
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. doi: 10.1080/13816810.2023.2258218. Epub 2024 Jan 26.
PMID:37755702
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. doi: 10.1111/j.1365-2133.2007.07806.x. Epub 2007 Mar 23.
PMID:17381453
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