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Journal Abstract Search

461 related items for PubMed ID: 30280950

  • 1. 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; 32(1):29-32. PubMed ID: 30280950
    [Abstract] [Full Text] [Related]

  • 2. Age and etiology of childhood epidermolysis bullosa mortality.
    Hon KL, Li JJ, Cheng BL, Luk DC, Murrell DF, Choi PC, Leung AK.
    J Dermatolog Treat; 2015 Apr; 26(2):178-82. PubMed ID: 24724596
    [Abstract] [Full Text] [Related]

  • 3. A Case Report of an Infant with Autosomal Recessive Dystrophic Epidermolysis Bullosa: COL7A1 Gene Mutations at C2005T and G7922A.
    Liu J, Wang L.
    Acta Dermatovenerol Croat; 2021 Dec; 29(3):164-166. PubMed ID: 34990346
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  • 5. 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; 40(6):1021-1027. PubMed ID: 37827535
    [Abstract] [Full Text] [Related]

  • 6. Genetic analysis of epidermolysis bullosa: identification of mutations in LAMB3 and COL7A1 genes in three families.
    Farooq M, Kurban M, Iguchi R, Abbas O, Fujimoto A, Fujikawa H, Bourji L, Sleiman R, Itani S, Succariah F, Kibbi AG, Shimomura Y.
    J Dermatol Sci; 2013 Oct; 72(1):72-4. PubMed ID: 23769655
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  • 7. Advantages of whole-exome sequencing over immunomapping in 67 Brazilian patients with epidermolysis bullosa.
    Kelmann SV, Stephan BO, Barbosa SMM, Polastrini RTV, Oliveira ZNP, Rivitti-Machado MC, Spolador GM, Honjo RS, Saida K, Matsumoto N, Kim CA.
    An Bras Dermatol; 2024 Oct; 99(3):350-356. PubMed ID: 38368142
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  • 8. 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; 98(2):179-184. PubMed ID: 32484238
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  • 9. Whole exome sequencing in a sample of Peruvian patients diagnosed with epidermolysis bullosa.
    Zevallos-Morales A, Iberico RT, Obispo D, Danos P, Sanchez RM, Fujita R, Guevara-Fujita ML.
    Dermatol Online J; 2022 Oct 15; 28(5):. PubMed ID: 36809127
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  • 10. Epidermolysis Bullosa: Pediatric Perspectives.
    Hon KL, Chu S, Leung AKC.
    Curr Pediatr Rev; 2022 Oct 15; 18(3):182-190. PubMed ID: 34036913
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  • 12. Novel and very rare causative variants in the COL7A1 gene of Vietnamese patients with recessive dystrophic epidermolysis bullosa revealed by whole-exome sequencing.
    Ma THT, Luong TLA, Hoang TL, Nguyen TTH, Vu TH, Tran VK, Nguyen DB, Trieu TS, Nguyen HH, Nong VH, Nguyen DT.
    Mol Genet Genomic Med; 2021 Aug 15; 9(8):e1748. PubMed ID: 34286919
    [Abstract] [Full Text] [Related]

  • 13. 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
    [Abstract] [Full Text] [Related]

  • 14. Phenotype and genotype correlation of inherited epidermolysis bullosa in Indonesia.
    Arline Diana I, Tan EC, Gondokaryono SP, Koh MJ, Dwiyana RF, Rahardja JI, Yogya Y, Rafi'ee K, Suwarsa O.
    Australas J Dermatol; 2023 Nov 05; 64(4):e327-e332. PubMed ID: 37452458
    [Abstract] [Full Text] [Related]

  • 15. 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
    [Abstract] [Full Text] [Related]

  • 16. Dystrophic epidermolysis bullosa phenotypes in a large consanguineous Tunisian family.
    Ouragini H, Cherif F, Kassar S, Floriddia G, Pascucci M, Daoud W, Osman-Dhahri AB, Boubaker S, Castiglia D, Abdelhak S.
    J Dermatol Sci; 2009 May 16; 54(2):114-20. PubMed ID: 19261445
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  • 17. Hallopeau-Siemens dystrophic epidermolysis bullosa due to homozygous 5818delC mutation in the COL7A gene.
    Koshida S, Tsukamura A, Yanagi T, Nakahara S, Takeuchi Y, Kato T, Tanaka T, Nakano H, Shimizu H.
    Pediatr Int; 2013 Apr 16; 55(2):234-7. PubMed ID: 23679163
    [Abstract] [Full Text] [Related]

  • 18. Molecular basis of the dystrophic and junctional forms of epidermolysis bullosa: mutations in the type VII collagen and kalinin (laminin 5) genes.
    Uitto J, Pulkkinen L, Christiano AM.
    J Invest Dermatol; 1994 Nov 16; 103(5 Suppl):39S-46S. PubMed ID: 7963683
    [Abstract] [Full Text] [Related]

  • 19. Mutation analysis and molecular genetics of epidermolysis bullosa.
    Pulkkinen L, Uitto J.
    Matrix Biol; 1999 Feb 16; 18(1):29-42. PubMed ID: 10367729
    [Abstract] [Full Text] [Related]

  • 20. Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa.
    Almaani N, Liu L, Dopping-Hepenstal PJ, Lai-Cheong JE, Wong A, Nanda A, Moss C, Martinéz AE, Mellerio JE, McGrath JA.
    Acta Derm Venereol; 2011 May 16; 91(3):262-6. PubMed ID: 21448560
    [Abstract] [Full Text] [Related]

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