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 *

145 related articles for article (PubMed ID: 26289024)

  • 1. Gene diagnosis and prenatal genetic diagnosis of a case of dystrophic epidermolysis bullosa family caused by gonadosomatic mosaicism for the COL7A1 mutation p.Gly2043Arg in the pregnant mother.
    Shen J; Zhang J; Wang Z; Ni C; Li H; Cheng R; Liang J; Li M; Yao Z
    J Eur Acad Dermatol Venereol; 2016 Sep; 30(9):1627-9. PubMed ID: 26289024
    [No Abstract]   [Full Text] [Related]  

  • 2. Dystrophic epidermolysis bullosa with one dominant and one recessive mutation of the COL7A1 gene in a child with deafness.
    Weinel S; Lucky AW; Uitto J; Pfendner EG; Choo D
    Pediatr Dermatol; 2008; 25(2):210-4. PubMed ID: 18429782
    [TBL] [Abstract][Full Text] [Related]  

  • 3. One Novel Frameshift Mutation on Exon 64 of COL7A1 Gene in an Iranian Individual Suffering Recessive Dystrophic Epidermolysis Bullosa.
    Khaniani MS; Sohrabi N; Derakhshan NM; Derakhshan SM
    Ann Clin Lab Sci; 2015; 45(5):582-4. PubMed ID: 26586712
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Somatic mosaicism for the COL7A1 mutation p.Gly2034Arg in the unaffected mother of a patient with dystrophic epidermolysis bullosa pruriginosa.
    van den Akker PC; Pasmooij AM; Meijer R; Scheffer H; Jonkman MF
    Br J Dermatol; 2015 Mar; 172(3):778-81. PubMed ID: 25113066
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [Genetic analysis of a child with recessive dystrophic epidermolysis bullosa due to compound heterozygous variants of (COL7A1 gene].
    Lyu X; Li H; Liu H; Chou H; Li T; Zhou W
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Apr; 37(4):445-448. PubMed ID: 32219833
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A novel COL7A1 gene mutation in an Iranian individual suffering dystrophic epidermolysis bullosa.
    Galehdari H; Mohammadian G; Azmoon S; Salehi B; Pedram M
    J Mol Diagn; 2010 May; 12(3):377-9. PubMed ID: 20190017
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Natural gene therapy in dystrophic epidermolysis bullosa.
    van den Akker PC; Nijenhuis M; Meijer G; Hofstra RM; Jonkman MF; Pasmooij AM
    Arch Dermatol; 2012 Feb; 148(2):213-6. PubMed ID: 22004882
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [Transient bullous lesions - a case of de novo mutation in the COL7A1 gene in patient with Epidermolysis bullosa dystrophica].
    Sobczyńska-Tomaszewska A; Wertheim-Tysarowska K; Kosykowska E; Kowalewski C
    Med Wieku Rozwoj; 2011; 15(2):119-25. PubMed ID: 22002042
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Localised Dominant Dystrophic Epidermolysis Bullosa with a Novel de Novo Mutation in COL7A1 Diagnosed by Next-generation Sequencing.
    Nagai M; Nagai H; Tominaga C; Sakaguchi Y; Jitsukawa O; Ohgo N; Nishigori C; Yamanishi K
    Acta Derm Venereol; 2015 May; 95(5):629-31. PubMed ID: 25425313
    [No Abstract]   [Full Text] [Related]  

  • 10. Mild recessive dystrophic epidermolysis bullosa associated with two compound heterozygous COL7A1 mutations.
    von Bartenwerffer W; Has C; Arin MJ; Tantcheva-Poór I; Kreuter A; Kremer K; Arshah T; Hoffmann M; Eming SA; Kohlhase J; Krieg T; Bruckner-Tuderman L; Hartmann K
    Eur J Dermatol; 2011; 21(2):170-2. PubMed ID: 21382783
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Utility of whole-exome sequencing in detecting novel compound heterozygous mutations in COL7A1 among families with severe recessive dystrophic epidermolysis bullosa in India - implications on diagnosis, prognosis and prenatal testing.
    Mahajan R; Vellarikkal SK; Handa S; Verma A; Jayarajan R; Kumar A; De D; Kaur J; Panigrahi I; Vineeth VS; Sivasubbu S; Scaria V
    J Eur Acad Dermatol Venereol; 2018 Dec; 32(12):e433-e435. PubMed ID: 29512197
    [No Abstract]   [Full Text] [Related]  

  • 12. Dominant pretibial dystrophic epidermolysis bullosa in an Italian family.
    Vaccaro M; Guarneri C; Guarneri F; Lentini M; Cannavò SP
    Pediatr Dermatol; 2020 Nov; 37(6):1207-1209. PubMed ID: 32840914
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Case report. Novel and recurrent COL7A1 mutations in Chinese patients with dystrophic epidermolysis bullosa pruriginosa.
    Zhu KJ; Zhu CY; Zhou Y; Fan YM
    Genet Mol Res; 2014 Sep; 13(3):7587-92. PubMed ID: 25222259
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A case of recessive dystrophic epidermolysis bullosa with a novel c.6885_6898del14 mutation in the COL7A1 gene.
    Shinkuma S; Masunaga T; Miyawaki S; Takashima S; Natsuga K; Nomura T; Fujita Y; Nakamura H; Shimizu H
    J Dermatol Sci; 2017 Oct; 88(1):139-141. PubMed ID: 28427821
    [No Abstract]   [Full Text] [Related]  

  • 15. Epidermolysis bullosa pruriginosa due to a glycine substitution mutation in the COL7A1-gene.
    Broekaert SM; Knauss-Scherwitz E; Biedermann T; Metzler G; Has C; Kohlhase J; Röcken M; Schaller M
    Acta Derm Venereol; 2006; 86(6):556-7. PubMed ID: 17106611
    [No Abstract]   [Full Text] [Related]  

  • 16. Revertant mosaicism due to a second-site mutation in COL7A1 in a patient with recessive dystrophic epidermolysis bullosa.
    Pasmooij AM; Garcia M; Escamez MJ; Nijenhuis AM; Azon A; Cuadrado-Corrales N; Jonkman MF; Del Rio M
    J Invest Dermatol; 2010 Oct; 130(10):2407-11. PubMed ID: 20574443
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The first COL7A1 mutation survey in a large Spanish dystrophic epidermolysis bullosa cohort: c.6527insC disclosed as an unusually recurrent mutation.
    Escámez MJ; García M; Cuadrado-Corrales N; Llames SG; Charlesworth A; De Luca N; Illera N; Sánchez-Jimeno C; Holguín A; Duarte B; Trujillo-Tiebas MJ; Vicario JL; Santiago JL; Hernández-Martín A; Torrelo A; Castiglia D; Ayuso C; Larcher F; Jorcano JL; Meana A; Meneguzzi G; Zambruno G; Del Rio M
    Br J Dermatol; 2010 Jul; 163(1):155-61. PubMed ID: 20184583
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Recessive dystrophic epidermolysis bullosa: identification of a novel COL7A1 mutation of D44N.
    Makino E; Nakano H; Sawamura D; Fujimoto W
    J Dermatol Sci; 2012 Nov; 68(2):109-12. PubMed ID: 22854212
    [No Abstract]   [Full Text] [Related]  

  • 19. A case of recessive dystrophic epidermolysis bullosa caused by compound heterozygous mutations in the COL7A1 gene.
    Suzuki S; Shimomura Y; Yamamoto Y; Kariya N; Shibuya M; Ito M; Fujiwara H
    Br J Dermatol; 2006 Oct; 155(4):838-40. PubMed ID: 16965439
    [No Abstract]   [Full Text] [Related]  

  • 20. Coinheritance of 2 New Potentially Damaging Heterozygous COL7A1 Variants in a Family With Autosomal Dominant Epidermolysis Bullosa Pruriginosa.
    Hale GI; Cohen MC; Quarrell OW; McGrath JA; Messenger AG
    Pediatr Dev Pathol; 2018; 21(6):580-584. PubMed ID: 29504492
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.