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 *

159 related articles for article (PubMed ID: 32906717)

  • 21. 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]  

  • 22. Compound heterozygosity for nonsense ans missense mutations in the LAMB3 gene in nonlethal junctional epidermolysis bullosa.
    McGarth JA; Christiano AM; Pulkkinen L; Eady RA; Uitto J
    J Invest Dermatol; 1996 May; 106(5):1157-9. PubMed ID: 8618058
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Junctional epidermolysis bullosa with extensive lung involvement in three patients with a LAMB3 Mutation.
    Ahmed F; Young LR; Perman MJ
    Pediatr Dermatol; 2022 Mar; 39(2):264-267. PubMed ID: 35178765
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Novel compound heterozygous mutation in LAMC2 genes (c.79G>A and 382insT) in Herlitz junctional epidermolysis bullosa.
    Jeon IK; Kim SE; Kim SC
    J Dermatol; 2014 Apr; 41(4):322-4. PubMed ID: 24533970
    [TBL] [Abstract][Full Text] [Related]  

  • 25. 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]  

  • 26. Laminin 332 in junctional epidermolysis bullosa.
    Kiritsi D; Has C; Bruckner-Tuderman L
    Cell Adh Migr; 2013; 7(1):135-41. PubMed ID: 23076207
    [TBL] [Abstract][Full Text] [Related]  

  • 27. A Novel Phenotype of Junctional Epidermolysis Bullosa with Transient Skin Fragility and Predominant Ocular Involvement Responsive to Human Amniotic Membrane Eyedrops.
    Castiglia D; Fortugno P; Condorelli AG; Barresi S; De Luca N; Pizzi S; Neri I; Graziano C; Trojan D; Ponzin D; Rossi S; Zambruno G; Tartaglia M
    Genes (Basel); 2021 May; 12(5):. PubMed ID: 34064633
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Junctional epidermolysis bullosa in the Middle East: clinical and genetic studies in a series of consanguineous families.
    Nakano A; Lestringant GG; Paperna T; Bergman R; Gershoni R; Frossard P; Kanaan M; Meneguzzi G; Richard G; Pfendner E; Uitto J; Pulkkinen L; Sprecher E
    J Am Acad Dermatol; 2002 Apr; 46(4):510-6. PubMed ID: 11907499
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Gene symbol: LAMB3. Disease: junctional epidermolysis bullosa, Herlitz variant.
    Schneider H; Muehle C
    Hum Genet; 2005 Dec; 118(3-4):545. PubMed ID: 16521295
    [No Abstract]   [Full Text] [Related]  

  • 30. A frameshift mutation within LAMC2 is responsible for Herlitz type junctional epidermolysis bullosa (HJEB) in black headed mutton sheep.
    Mömke S; Kerkmann A; Wöhlke A; Ostmeier M; Hewicker-Trautwein M; Ganter M; Kijas J; ; Distl O
    PLoS One; 2011 May; 6(5):e18943. PubMed ID: 21573221
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Maternal uniparental meroisodisomy in the LAMB3 region of chromosome 1 results in lethal junctional epidermolysis bullosa.
    Takizawa Y; Pulkkinen L; Shimizu H; Lin L; Hagiwara S; Nishikawa T; Uitto J
    J Invest Dermatol; 1998 May; 110(5):828-31. PubMed ID: 9579554
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Herlitz junctional epidermolysis bullosa with a novel mutation in LAMB3.
    Kittridge A; Patel R; Novoa R; Tamburro J
    Pediatr Dermatol; 2014; 31(4):530-2. PubMed ID: 23278291
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Novel and recurrent mutations in the laminin-5 genes causing lethal junctional epidermolysis bullosa: molecular basis and clinical course of Herlitz disease.
    Mühle C; Jiang QJ; Charlesworth A; Bruckner-Tuderman L; Meneguzzi G; Schneider H
    Hum Genet; 2005 Jan; 116(1-2):33-42. PubMed ID: 15538630
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Molecular diagnostics facilitate distinction between lethal and non-lethal subtypes of junctional epidermolysis bullosa: a case report and review of the literature.
    Bauer J; Schumann H; Sönnichsen K; Tomaske M; Bosk A; Bruckner-Tuderman L; Rassner G; Garbe C
    Eur J Pediatr; 2002 Dec; 161(12):672-9. PubMed ID: 12447669
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Application of whole exome sequencing in elucidating the phenotype and genotype spectrum of junctional epidermolysis bullosa: A preliminary experience of a tertiary care centre in India.
    Yenamandra VK; Vellarikkal SK; Kumar M; Chowdhury MR; Jayarajan R; Verma A; Scaria V; Sivasubbu S; Ray SB; Dinda AK; Kabra M; Kaur P; Sharma VK; Sethuraman G
    J Dermatol Sci; 2017 Apr; 86(1):30-36. PubMed ID: 28087116
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Identification of the LAMB3 hotspot mutation R635X in a Hungarian case of Herlitz junctional epidermolysis bullosa.
    Cserhalmi PB; Horvath A; Boros V; Sapi Z; Kormendi M; Christiano AM; Karpati S
    Exp Dermatol; 1997 Apr; 6(2):70-4. PubMed ID: 9209887
    [TBL] [Abstract][Full Text] [Related]  

  • 37. KRT5 missense variant in a Cardigan Welsh Corgi with epidermolysis bullosa simplex.
    Kiener S; Mauldin EA; Jagannathan V; Casal ML; Leeb T
    Anim Genet; 2022 Dec; 53(6):892-896. PubMed ID: 36004757
    [TBL] [Abstract][Full Text] [Related]  

  • 38. In vivo restoration of laminin 5 beta 3 expression and function in junctional epidermolysis bullosa.
    Robbins PB; Lin Q; Goodnough JB; Tian H; Chen X; Khavari PA
    Proc Natl Acad Sci U S A; 2001 Apr; 98(9):5193-8. PubMed ID: 11296269
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma 2 subunit of nicein/kalinin (LAMININ-5).
    Aberdam D; Galliano MF; Vailly J; Pulkkinen L; Bonifas J; Christiano AM; Tryggvason K; Uitto J; Epstein EH; Ortonne JP
    Nat Genet; 1994 Mar; 6(3):299-304. PubMed ID: 8012394
    [TBL] [Abstract][Full Text] [Related]  

  • 40. E210K mutation in the gene encoding the beta3 chain of laminin-5 (LAMB3) is predictive of a phenotype of generalized atrophic benign epidermolysis bullosa.
    Mellerio JE; Eady RA; Atherton DJ; Lake BD; McGrath JA
    Br J Dermatol; 1998 Aug; 139(2):325-31. PubMed ID: 9767254
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.