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 *

115 related articles for article (PubMed ID: 9128767)

  • 41. Junctional epidermolysis bullosa with LAMB3 splice-site mutations.
    Kiritsi D; Huilaja L; Franzke CW; Kokkonen N; Pazzagli C; Schwieger-Briel A; Larmas M; Bruckner-Tuderman L; Has C; Tasanen K
    Acta Derm Venereol; 2015 Sep; 95(7):849-51. PubMed ID: 25708563
    [No Abstract]   [Full Text] [Related]  

  • 42. Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition.
    McGrath JA; Gatalica B; Li K; Dunnill MG; McMillan JR; Christiano AM; Eady RA; Uitto J
    Am J Pathol; 1996 Jun; 148(6):1787-96. PubMed ID: 8669466
    [TBL] [Abstract][Full Text] [Related]  

  • 43. Phenotypic alleviation in LAMB3-mutated severe junctional epidermolysis bullosa.
    Medek K; Klausegger A; Ude-Schoder K; Prodinger C; Breitenbach-Koller H; Bauer JW; Laimer M
    J Eur Acad Dermatol Venereol; 2022 Aug; 36(8):e631-e634. PubMed ID: 35305048
    [No Abstract]   [Full Text] [Related]  

  • 44. Complete maternal isodisomy causing reduction to homozygosity for a novel LAMB3 mutation in Herlitz junctional epidermolysis bullosa.
    Castori M; Floriddia G; Pisaneschi E; Covaciu C; Paradisi M; Torrente I; Castiglia D
    J Dermatol Sci; 2008 Jul; 51(1):58-61. PubMed ID: 18387282
    [No Abstract]   [Full Text] [Related]  

  • 45. Novel homozygous and compound heterozygous COL17A1 mutations associated with junctional epidermolysis bullosa.
    Floeth M; Fiedorowicz J; Schäcke H; Hammami-Hausli N; Owaribe K; Trüeb RM; Bruckner-Tuderman L
    J Invest Dermatol; 1998 Sep; 111(3):528-33. PubMed ID: 9740252
    [TBL] [Abstract][Full Text] [Related]  

  • 46. Molecular epidemiology of junctional epidermolysis bullosa: discovery of novel and frequent LAMB3 mutations in Chilean patients with diagnostic significance.
    Fuentes I; Campos M; Repetto G; Morandé P; Yubero MJ; Gonzalez S; Klausegger A; Schnitzhofer P; Pohla-Gubo G; Bauer J; Palisson F
    Br J Dermatol; 2017 Apr; 176(4):1090-1092. PubMed ID: 27480391
    [No Abstract]   [Full Text] [Related]  

  • 47. Herlitz junctional epidermolysis bullosa: diagnostic features, mutational profile, incidence and population carrier frequency in the Netherlands.
    Yuen WY; Lemmink HH; van Dijk-Bos KK; Sinke RJ; Jonkman MF
    Br J Dermatol; 2011 Dec; 165(6):1314-22. PubMed ID: 21801158
    [TBL] [Abstract][Full Text] [Related]  

  • 48. Maternal uniparental disomy of chromosome 1 with reduction to homozygosity of the LAMB3 locus in a patient with Herlitz junctional epidermolysis bullosa.
    Pulkkinen L; Bullrich F; Czarnecki P; Weiss L; Uitto J
    Am J Hum Genet; 1997 Sep; 61(3):611-9. PubMed ID: 9326326
    [TBL] [Abstract][Full Text] [Related]  

  • 49. CRISPR/Cas9-Mediated In Situ Correction of LAMB3 Gene in Keratinocytes Derived from a Junctional Epidermolysis Bullosa Patient.
    Benati D; Miselli F; Cocchiarella F; Patrizi C; Carretero M; Baldassarri S; Ammendola V; Has C; Colloca S; Del Rio M; Larcher F; Recchia A
    Mol Ther; 2018 Nov; 26(11):2592-2603. PubMed ID: 30122422
    [TBL] [Abstract][Full Text] [Related]  

  • 50. Herlitz junctional epidermolysis bullosa: laminin-5 mutational profile and carrier frequency in the Italian population.
    Castori M; Floriddia G; De Luca N; Pascucci M; Ghirri P; Boccaletti V; El Hachem M; Zambruno G; Castiglia D
    Br J Dermatol; 2008 Jan; 158(1):38-44. PubMed ID: 17916201
    [TBL] [Abstract][Full Text] [Related]  

  • 51. Aberrant splicing as potential modifier of the phenotype of junctional epidermolysis bullosa.
    Mittwollen R; Wohlfart S; Park J; Grosch E; Has C; Hohenester E; Schneider H; Hammersen J
    J Eur Acad Dermatol Venereol; 2020 Sep; 34(9):2127-2134. PubMed ID: 32124492
    [TBL] [Abstract][Full Text] [Related]  

  • 52. A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa.
    Kivirikko S; McGrath JA; Baudoin C; Aberdam D; Ciatti S; Dunnill MG; McMillan JR; Eady RA; Ortonne JP; Meneguzzi G
    Hum Mol Genet; 1995 May; 4(5):959-62. PubMed ID: 7633458
    [TBL] [Abstract][Full Text] [Related]  

  • 53. Topical gentamicin ointment induces LAMB3 nonsense mutation readthrough and improves corneal erosions in a patient with junctional epidermolysis bullosa.
    Hung JH; Hou PC; Huang FC; Hsu CK
    Clin Exp Ophthalmol; 2021 Apr; 49(3):309-312. PubMed ID: 33634938
    [No Abstract]   [Full Text] [Related]  

  • 54. A homozygous nonsense mutation in the beta 3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa.
    Pulkkinen L; Christiano AM; Gerecke D; Wagman DW; Burgeson RE; Pittelkow MR; Uitto J
    Genomics; 1994 Nov; 24(2):357-60. PubMed ID: 7698759
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Herlitz junctional epidermolysis bullosa.
    Laimer M; Lanschuetzer CM; Diem A; Bauer JW
    Dermatol Clin; 2010 Jan; 28(1):55-60. PubMed ID: 19945616
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Single nucleotide polymorphism in a commonly utilized LAMB3 primer sequence: implications for mutation detection and haplotype analysis in junctional epidermolysis bullosa.
    Liu L; Choy YS; Wessagowit V; Ozoemena L; Dopping-Hepenstal PJ; Fassihi H; McGrath JA
    J Dermatol Sci; 2006 Oct; 44(1):48-51. PubMed ID: 16814527
    [No Abstract]   [Full Text] [Related]  

  • 57. 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
    [No Abstract]   [Full Text] [Related]  

  • 58. Altered laminin 5 expression due to mutations in the gene encoding the beta 3 chain (LAMB3) in generalized atrophic benign epidermolysis bullosa.
    McGrath JA; Pulkkinen L; Christiano AM; Leigh IM; Eady RA; Uitto J
    J Invest Dermatol; 1995 Apr; 104(4):467-74. PubMed ID: 7706760
    [TBL] [Abstract][Full Text] [Related]  

  • 59. Compound heterozygosity for an out-of-frame deletion and a splice site mutation in the LAMB3 gene causes nonlethal junctional epidermolysis bullosa.
    Posteraro P; Sorvillo S; Gagnoux-Palacios L; Angelo C; Paradisi M; Meneguzzi G; Castiglia D; Zambruno G
    Biochem Biophys Res Commun; 1998 Feb; 243(3):758-64. PubMed ID: 9501007
    [TBL] [Abstract][Full Text] [Related]  

  • 60. Genetic bases of severe junctional epidermolysis bullosa presenting spontaneous amelioration with aging.
    Gache Y; Allegra M; Bodemer C; Pisani-Spadafora A; de Prost Y; Ortonne JP; Meneguzzi G
    Hum Mol Genet; 2001 Oct; 10(21):2453-61. PubMed ID: 11689492
    [TBL] [Abstract][Full Text] [Related]  

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