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Journal Abstract Search

168 related items for PubMed ID: 37452458

  • 1.
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  • 2. Genotype and phenotype correlations in 441 patients with epidermolysis bullosa from China.
    Chen F, Wei R, Deng D, Zhang X, Cao Y, Pan C, Wang Y, Cao Q, Wang J, Zeng M, Huang L, Gu Y, Yao Z, Li M.
    J Eur Acad Dermatol Venereol; 2023 Feb; 37(2):411-419. PubMed ID: 36287101
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  • 4. Assessment of the Timing of Milestone Clinical Events in Patients With Epidermolysis Bullosa From North America.
    Feinstein JA, Jambal P, Peoples K, Lucky AW, Khuu P, Tang JY, Lara-Corrales I, Pope E, Wiss K, Hook KP, Levin LE, Morel KD, Paller AS, McCuaig CC, Powell J, Eichenfield LF, Price H, Levy ML, Schachner LA, Browning JC, Bayliss S, Jahnke M, Shwayder T, Glick SA, Bruckner AL.
    JAMA Dermatol; 2019 Feb 01; 155(2):196-203. PubMed ID: 30586139
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  • 5. Review of collagen VII sequence variants found in Australasian patients with dystrophic epidermolysis bullosa reveals nine novel COL7A1 variants.
    Dang N, Klingberg S, Marr P, Murrell DF.
    J Dermatol Sci; 2007 Jun 01; 46(3):169-78. PubMed ID: 17425959
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  • 6. Epidermolysis Bullosa (EB) Acquisita in an Adult Patient with Previously Unrecognized Mild Dystrophic EB and Biallelic COL7A1 Mutations.
    Guerra L, Condorelli AG, Fortugno P, Calabresi V, Pedicelli C, Di Zenzo G, Castiglia D.
    Acta Derm Venereol; 2018 Apr 16; 98(4):411-415. PubMed ID: 29182795
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  • 7. Neonatal epidermolysis bullosa: lessons to learn about genetic counseling.
    Chong SC, Hon KL, Yuen LYP, Choi PCL, Ng WGG, Chiu TW.
    J Dermatolog Treat; 2021 Feb 16; 32(1):29-32. PubMed ID: 30280950
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  • 8. Five Novel COL7A1 Gene Mutations in Three Chinese Patients with Recessive Dystrophic Epidermolysis Bullosa.
    Yan Y, Meng Z, Hao S, Wang F, Jin X, Sun D, Gao H, Ma X.
    Ann Clin Lab Sci; 2018 Jan 16; 48(1):100-105. PubMed ID: 29531004
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  • 9. Clinical and allelic heterogeneity in dystrophic epidermolysis bullosa- lessons from an Indian cohort.
    Gupta D, Jayashankar C, Srinivas M, Baraka Vishwanathan G, Reddy KR, Kubba A, Batrani M, Hiremagalore R.
    PLoS One; 2023 Jan 16; 18(8):e0289558. PubMed ID: 37556444
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  • 10. A Retrospective Study on the Clinical, Laboratory, and Nutritional Status of Pediatric Epidermolysis Bullosa in a Tertiary Referral Hospital in West Java, Indonesia.
    Tsaqilah L, Diana IA, Gondokaryono SP, Effendi RMRA, Suwarsa O, Gunawan H, Hidayah RMN, Dwiyana RF.
    Clin Cosmet Investig Dermatol; 2023 Jan 16; 16():1615-1621. PubMed ID: 37389358
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  • 12. Epidermolysis Bullosa: Two rare case reports of COL7A1 and EBS-GEN SEV KRT14 variants with review of literature.
    Ali FM, Zhou J, Wang M, Wang Q, Sun L, Mshenga MM, Lu H.
    BMC Pediatr; 2024 Apr 05; 24(1):242. PubMed ID: 38580989
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  • 13. The G2028R glycine substitution mutation in COL7A1 leads to marked inter-familiar clinical heterogeneity in dominant dystrophic epidermolysis bullosa.
    Nakamura H, Sawamura D, Goto M, Sato-Matsumura KC, LaDuca J, Lee JY, Masunaga T, Shimizu H.
    J Dermatol Sci; 2004 May 05; 34(3):195-200. PubMed ID: 15113589
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  • 14. Mutation analysis and molecular genetics of epidermolysis bullosa.
    Pulkkinen L, Uitto J.
    Matrix Biol; 1999 Feb 05; 18(1):29-42. PubMed ID: 10367729
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  • 15. Epidemiology of inherited epidermolysis bullosa in Romania and genotype-phenotype correlations in patients with dystrophic epidermolysis bullosa.
    Dănescu S, Has C, Senila S, Ungureanu L, Cosgarea R.
    J Eur Acad Dermatol Venereol; 2015 May 05; 29(5):899-903. PubMed ID: 25201089
    [Abstract] [Full Text] [Related]

  • 16. Long-term follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands: expansion of the mutation database and unusual phenotype-genotype correlations.
    van den Akker PC, van Essen AJ, Kraak MM, Meijer R, Nijenhuis M, Meijer G, Hofstra RM, Pas HH, Scheffer H, Jonkman MF.
    J Dermatol Sci; 2009 Oct 05; 56(1):9-18. PubMed ID: 19665875
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  • 17. Next-generation sequencing through multigene panel testing for the diagnosis of hereditary epidermolysis bullosa in Chinese population.
    Chen F, Huang L, Li C, Zhang J, Yang W, Zhang B, Li H, Deng D, Liang J, Shen J, Yao Z, Li M.
    Clin Genet; 2020 Aug 05; 98(2):179-184. PubMed ID: 32484238
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  • 18. Genotype-phenotype correlation in italian patients with dystrophic epidermolysis bullosa.
    Gardella R, Castiglia D, Posteraro P, Bernardini S, Zoppi N, Paradisi M, Tadini G, Barlati S, McGrath JA, Zambruno G, Colombi M.
    J Invest Dermatol; 2002 Dec 05; 119(6):1456-62. PubMed ID: 12485454
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  • 19. Clinical and molecular features in a cohort of Middle Eastern patients with epidermolysis bullosa.
    Bergson S, Daniely D, Bomze D, Mohamad J, Malovitski K, Meijers O, Briskin V, Bihari O, Malchin N, Israeli S, Mashiah J, Falik-Zaccai T, Avitan-Hersh E, Eskin-Schwartz M, Allon-Shalev S, Sarig O, Sprecher E, Samuelov L.
    Pediatr Dermatol; 2023 Dec 05; 40(6):1021-1027. PubMed ID: 37827535
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  • 20. Analysis of COL7A1 pathogenic variants in a large cohort of dystrophic epidermolysis bullosa patients from Argentina reveals a new genotype-phenotype correlation.
    Natale MI, Manzur GB, Lusso SB, Cella E, Giovo ME, Andrada R, Goitia J, Fernández MF, Della Giovanna PS, Guillamondegui MJ, Domínguez M, Gutiérrez O, Izquierdo A, Hernández Herrera H, Velázquez Perdomo LG, Mistchenko AS, Valinotto LE.
    Am J Med Genet A; 2022 Nov 05; 188(11):3153-3161. PubMed ID: 35979658
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