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 *

107 related articles for article (PubMed ID: 29574987)

  • 21. 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; 98(4):411-415. PubMed ID: 29182795
    [TBL] [Abstract][Full Text] [Related]  

  • 22. COL7A1 mutation G2037E causes epidermal retention of type VII collagen.
    Sawamura D; Sato-Matsumura K; Shibata S; Tashiro A; Furue M; Goto M; Sakai K; Akiyama M; Nakamura H; Shimizu H
    J Hum Genet; 2006; 51(5):418-423. PubMed ID: 16557343
    [TBL] [Abstract][Full Text] [Related]  

  • 23. 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]  

  • 24. A novel mutation in the COL7A1 gene results in a unique phenotype of epidermolysis bullosa pruriginosa.
    Ni C; Zhang J; Zhang H; Cheng RH; Liang JY; Li CX; Li M; Yao ZR
    J Eur Acad Dermatol Venereol; 2016 Mar; 30(3):535-6. PubMed ID: 25556825
    [No Abstract]   [Full Text] [Related]  

  • 25. Glycine substitution mutations by different amino acids at the same codon in COL7A1 cause different modes of dystrophic epidermolysis bullosa inheritance.
    Sawamura D; Mochitomi Y; Kanzaki T; Nakamura H; Shimizu H
    Br J Dermatol; 2006 Oct; 155(4):834-7. PubMed ID: 16965438
    [No Abstract]   [Full Text] [Related]  

  • 26. [Recessive epidermolysis bullosa due to composite heterozygote mutations in the COL7A1 gene].
    Abdou A; Daoui L; Charlesworth A; Chiaverini C; Algros MP; Puzenat E; Chantegret C; Vabres P; Lacour JP; Aubin F
    Ann Dermatol Venereol; 2015 May; 142(5):346-9. PubMed ID: 25683012
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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]  

  • 28. A novel missense mutation in COL7A1 in a Chinese pedigree with epidermolysis bullosa pruriginosa.
    Wang Y; Zhao J; Tu P; Jiang W; Zhu X
    J Dermatol Sci; 2007 Jun; 46(3):211-3. PubMed ID: 17336503
    [No Abstract]   [Full Text] [Related]  

  • 29. 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; 91(3):262-6. PubMed ID: 21448560
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Recessive bullous dermolysis of the newborn in preterm siblings with a missense mutation in type VII collagen.
    Boccaletti V; Zambruno G; Castiglia D; Magnani C; Tognetti E; Fabrizi G; Cortelazzi C; Pagliarello C; Di Nuzzo S
    Pediatr Dermatol; 2015; 32(2):e42-7. PubMed ID: 25639640
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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; 56(1):9-18. PubMed ID: 19665875
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Multiple Milia as an Isolated Skin Manifestation of Dominant Dystrophic Epidermolysis Bullosa: Evidence of Phenotypic Variability.
    Akasaka E; Nakano H; Takagi Y; Toyomaki Y; Sawamura D
    Pediatr Dermatol; 2017 Mar; 34(2):e106-e108. PubMed ID: 28008652
    [TBL] [Abstract][Full Text] [Related]  

  • 33. A Novel COL7A1 Mutation in a Chinese Family with Epidermolysis Bullosa Pruriginosa.
    Wu N; Jin L; Wang G
    Clin Lab; 2017 Jan; 63(1):157-161. PubMed ID: 28164502
    [TBL] [Abstract][Full Text] [Related]  

  • 34. A recurrent 'hot spot' glycine substitution mutation, G2043R in COL7A1, induces dominant dystrophic epidermolysis bullosa associated with intracytoplasmic accumulation of pro-collagen VII.
    Nishie W; Natsuga K; Nakamura H; Ito T; Toyonaga E; Sato H; Shimizu H
    J Dermatol Sci; 2014 Jul; 75(1):69-71. PubMed ID: 24794830
    [No Abstract]   [Full Text] [Related]  

  • 35. [Neonatal hereditary dystrophic epidermolysis bullosa: a genetically diagnosed case report].
    Jiang Y; Hou XL; Li X; Lin ZS; Cui C
    Beijing Da Xue Xue Bao Yi Xue Ban; 2013 Apr; 45(2):202-6. PubMed ID: 23591337
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Transient bullous dermolysis of the newborn: a novel de novo mutation in the COL7A1 gene.
    Shi BJ; Zhu XJ; Liu Y; Hao J; Yan GF; Wang SP; Wang XY; Diao QC
    Int J Dermatol; 2015 Apr; 54(4):438-42. PubMed ID: 25800346
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Identical COL71A1 heterozygous mutations resulting in different dystrophic epidermolysis bullosa phenotypes.
    Knöpfel N; Noguera-Morel L; Hernández-Martin A; García-Martin A; García M; Mencía Á; Pedrero RM; de Lucas R; Escámez MJ; Torrelo A
    Pediatr Dermatol; 2018 Mar; 35(2):e94-e98. PubMed ID: 29272047
    [TBL] [Abstract][Full Text] [Related]  

  • 38. High frequency of the 425A-->G splice-site mutation and novel mutations of the COL7A1 gene in central Europe: significance for future mutation detection strategies in dystrophic epidermolysis bullosa.
    Csikós M; Szocs HI; Lászik A; Mecklenbeck S; Horváth A; Kárpáti S; Bruckner-Tuderman L
    Br J Dermatol; 2005 May; 152(5):879-86. PubMed ID: 15888141
    [TBL] [Abstract][Full Text] [Related]  

  • 39. 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]  

  • 40. Does the position of the premature termination codon in COL7A1 correlate with the clinical severity in recessive dystrophic epidermolysis bullosa?
    Ishiko A; Masunaga T; Ota T; Nishikawa T
    Exp Dermatol; 2004 Apr; 13(4):229-33. PubMed ID: 15086338
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 6.