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 *

130 related articles for article (PubMed ID: 29900604)

  • 1. Novel compound heterozygous and homozygous variants of laminin subunit β3 gene underlie non-Herlitz junctional epidermolysis bullosa in two paternal half-brothers from Saudi Arabia.
    Al-Zahrani HS; Al-Tala S; Mohamoud HSA; Al-Shehri BA; Al-Fadhel S; Al-Qurashi A; Al-Bishri A; Al-Aama JY; Kang C; Betz RC; Jelani M
    Congenit Anom (Kyoto); 2019 May; 59(3):99-101. PubMed ID: 29900604
    [No Abstract]   [Full Text] [Related]  

  • 2. A novel homozygous nonsense mutation in the LAMC2 gene in patients with the Herlitz junctional epidermolysis bullosa.
    Baudoin C; Miquel C; Gagnoux-Palacios L; Pulkkinen L; Christiano AM; Uitto J; Tadini G; Ortonne JP; Meneguzzi G
    Hum Mol Genet; 1994 Oct; 3(10):1909-10. PubMed ID: 7849725
    [No Abstract]   [Full Text] [Related]  

  • 3. Novel mutations in the LAMB3 gene shared by two Japanese unrelated families with Herlitz junctional epidermolysis bullosa, and their application for prenatal testing.
    Takizawa Y; Shimizu H; Pulkkinen L; Hiraoka Y; McGrath JA; Suzumori K; Aiso S; Uitto J; Nishikawa T
    J Invest Dermatol; 1998 Feb; 110(2):174-8. PubMed ID: 9457915
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. Identification of a homozygous one-basepair deletion in exon 14 of the LAMB3 gene in a patient with Herlitz junctional epidermolysis bullosa and prenatal diagnosis in a family at risk for recurrence.
    Vailly J; Pulkkinen L; Miquel C; Christiano AM; Gerecke D; Burgeson RE; Uitto J; Ortonne JP; Meneguzzi G
    J Invest Dermatol; 1995 Apr; 104(4):462-6. PubMed ID: 7706759
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Detection of novel LAMA3 mutation in Herlitz junctional epidermolysis bullosa in a Jordanian family.
    Badran EF; Battah HA; Akl KF; Khalil RW; Al Amori I
    Australas J Dermatol; 2013 Aug; 54(3):218-21. PubMed ID: 22963541
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Japanese case of Herlitz junctional epidermolysis bullosa that initially showed a few blisters on the limited area.
    Yoshida K; Takada Y; Hagihara S; Masunaga T; Ishiko A
    J Dermatol; 2014 Apr; 41(4):351-3. PubMed ID: 24617447
    [No Abstract]   [Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes.
    Nakano A; Chao SC; Pulkkinen L; Murrell D; Bruckner-Tuderman L; Pfendner E; Uitto J
    Hum Genet; 2002 Jan; 110(1):41-51. PubMed ID: 11810295
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Mutations in the gamma 2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa.
    Pulkkinen L; Christiano AM; Airenne T; Haakana H; Tryggvason K; Uitto J
    Nat Genet; 1994 Mar; 6(3):293-7. PubMed ID: 8012393
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Herlitz junctional epidermolysis bullosa: novel and recurrent mutations in the LAMB3 gene and the population carrier frequency.
    Nakano A; Pfendner E; Hashimoto I; Uitto J
    J Invest Dermatol; 2000 Sep; 115(3):493-8. PubMed ID: 11023379
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in Herlitz junctional epidermolysis bullosa: prenatal exclusion in a fetus at risk.
    McGrath JA; Kivirikko S; Ciatti S; Moss C; Dunnill GS; Eady RA; Rodeck CH; Christiano AM; Uitto J
    Genomics; 1995 Sep; 29(1):282-4. PubMed ID: 8530087
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Identification of a homozygous exon-skipping mutation in the LAMC2 gene in a patient with Herlitz's junctional epidermolysis bullosa.
    Vailly J; Pulkkinen L; Christiano AM; Tryggvason K; Uitto J; Ortonne JP; Meneguzzi G
    J Invest Dermatol; 1995 Mar; 104(3):434-7. PubMed ID: 7861013
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Moderation of phenotypic severity in dystrophic and junctional forms of epidermolysis bullosa through in-frame skipping of exons containing non-sense or frameshift mutations.
    McGrath JA; Ashton GH; Mellerio JE; Salas-Alanis JC; Swensson O; McMillan JR; Eady RA
    J Invest Dermatol; 1999 Sep; 113(3):314-21. PubMed ID: 10469327
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Cloning of the laminin alpha 3 chain gene (LAMA3) and identification of a homozygous deletion in a patient with Herlitz junctional epidermolysis bullosa.
    Vidal F; Baudoin C; Miquel C; Galliano MF; Christiano AM; Uitto J; Ortonne JP; Meneguzzi G
    Genomics; 1995 Nov; 30(2):273-80. PubMed ID: 8586427
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Animal models for skin blistering conditions: absence of laminin 5 causes hereditary junctional mechanobullous disease in the Belgian horse.
    Spirito F; Charlesworth A; Linder K; Ortonne JP; Baird J; Meneguzzi G
    J Invest Dermatol; 2002 Sep; 119(3):684-91. PubMed ID: 12230513
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.