These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

279 related articles for article (PubMed ID: 31001817)

  • 1. An overview of the genetic basis of epidermolysis bullosa in Brazil: discovery of novel and recurrent disease-causing variants.
    Mariath LM; Santin JT; Frantz JA; Doriqui MJR; Kiszewski AE; Schuler-Faccini L
    Clin Genet; 2019 Sep; 96(3):189-198. PubMed ID: 31001817
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Novel pathogenic variants in an Indian cohort with epidermolysis bullosa: Expanding the genotypic spectrum.
    Nilay M; Saxena D; Mandal K; Moirangthem A; Phadke SR
    Eur J Med Genet; 2021 Dec; 64(12):104345. PubMed ID: 34597860
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 40(6):1021-1027. PubMed ID: 37827535
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 99(3):350-356. PubMed ID: 38368142
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mutational analysis of epidermolysis bullosa in Taiwan by whole-exome sequencing complemented by RNA sequencing: a series of 77 patients.
    Tu WT; Hou PC; Chen PC; Chen WR; Huang HY; Wang JY; Huang YT; Wu YH; Su CL; Tang YA; Iwata H; Natsuga K; Chao SC; Sun HS; Tang MJ; Lee JY; McGrath JA; Hsu CK
    Orphanet J Rare Dis; 2022 Dec; 17(1):451. PubMed ID: 36578049
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Identification and Computational Analysis of Novel Pathogenic Variants in Pakistani Families with Diverse Epidermolysis Bullosa Phenotypes.
    Khan FF; Khan N; Rehman S; Ejaz A; Ali U; Erfan M; Ahmed ZM; Naeem M
    Biomolecules; 2021 Apr; 11(5):. PubMed ID: 33921969
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Immunofluorescence mapping, electron microscopy and genetics in the diagnosis and sub-classification of inherited epidermolysis bullosa: a single-centre retrospective comparative study of 87 cases with long-term follow-up.
    Rossi S; Castiglia D; Pisaneschi E; Diociaiuti A; Stracuzzi A; Cesario C; Mariani R; Floriddia G; Zambruno G; Boldrini R; Abeni D; Novelli A; Alaggio R; El Hachem M
    J Eur Acad Dermatol Venereol; 2021 Apr; 35(4):1007-1016. PubMed ID: 33274474
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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; 64(4):e327-e332. PubMed ID: 37452458
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa.
    Vahidnezhad H; Youssefian L; Saeidian AH; Touati A; Sotoudeh S; Jazayeri A; Guy A; Lovell PA; Liu L; Kariminejad A; McGrath JA; Zeinali S; Uitto J
    Hum Mutat; 2018 Oct; 39(10):1349-1354. PubMed ID: 30016581
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Genetic Profile of Epidermolysis Bullosa Cases in King Abdulaziz Medical City, Riyadh, Saudi Arabia.
    Alharthi R; Alnahdi MA; Alharthi A; Almutairi S; Al-Khenaizan S; AlBalwi MA
    Front Genet; 2021; 12():753229. PubMed ID: 35222512
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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; 155(2):196-203. PubMed ID: 30586139
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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; 28(5):. PubMed ID: 36809127
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Epidermolysis Bullosa in Chinese Patients: Genetic Analysis and Mutation Landscape in 57 Pedigrees and Sporadic Cases.
    Yu Y; Wang Z; Mi Z; Sun L; Fu X; Yu G; Pang Z; Liu H; Zhang F
    Acta Derm Venereol; 2021 Jul; 101(7):adv00503. PubMed ID: 34046686
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Overview of epidermolysis bullosa.
    Sawamura D; Nakano H; Matsuzaki Y
    J Dermatol; 2010 Mar; 37(3):214-9. PubMed ID: 20507384
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Ophthalmologic Approach in Epidermolysis Bullosa: A Cross-Sectional Study With Phenotype-Genotype Correlations.
    Mellado F; Fuentes I; Palisson F; I Vergara J; Kantor A
    Cornea; 2018 Apr; 37(4):442-447. PubMed ID: 29384803
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Genotype-phenotype correlations on epidermolysis bullosa with congenital absence of skin: A comprehensive review.
    Mariath LM; Santin JT; Frantz JA; Doriqui MJR; Schuler-Faccini L; Kiszewski AE
    Clin Genet; 2021 Jan; 99(1):29-41. PubMed ID: 32506467
    [TBL] [Abstract][Full Text] [Related]  

  • 19. The epidemiology of epidermolysis bullosa in England and Wales: data from the national epidermolysis bullosa database.
    Petrof G; Papanikolaou M; Martinez AE; Mellerio JE; McGrath JA; Bardhan A; Harper N; Heagerty A; Ogboli M; Chiswell C; Moss C
    Br J Dermatol; 2022 May; 186(5):843-848. PubMed ID: 34927719
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Genetic diagnosis of epidermolysis bullosa: recommendations from an expert Spanish research group.
    Sánchez-Jimeno C; Escámez MJ; Ayuso C; Trujillo-Tiebas MJ; Del Río M;
    Actas Dermosifiliogr (Engl Ed); 2018 Mar; 109(2):104-122. PubMed ID: 29180129
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.