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: 25791580)

  • 1. PLEC1 mutation associated with left ventricular hypertrabeculation/noncompaction.
    Finsterer J; Stöllberger C
    Neuromuscul Disord; 2015 May; 25(5):447-8. PubMed ID: 25791580
    [No Abstract]   [Full Text] [Related]  

  • 2. Response to: PLEC1 mutation associated with left ventricular hypertrabeculation/noncompaction.
    Villa CR; Ryan TD; Taylor MD; Jefferies JL
    Neuromuscul Disord; 2015 May; 25(5):448-9. PubMed ID: 25800222
    [No Abstract]   [Full Text] [Related]  

  • 3. Left ventricular non-compaction cardiomyopathy associated with epidermolysis bullosa simplex with muscular dystrophy and PLEC1 mutation.
    Villa CR; Ryan TD; Collins JJ; Taylor MD; Lucky AW; Jefferies JL
    Neuromuscul Disord; 2015 Feb; 25(2):165-8. PubMed ID: 25454730
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Congenital muscular dystrophy, myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectin.
    Forrest K; Mellerio JE; Robb S; Dopping-Hepenstal PJ; McGrath JA; Liu L; Buk SJ; Al-Sarraj S; Wraige E; Jungbluth H
    Neuromuscul Disord; 2010 Nov; 20(11):709-11. PubMed ID: 20624679
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency.
    Yiu EM; Klausegger A; Waddell LB; Grasern N; Lloyd L; Tran K; North KN; Bauer JW; McKelvie P; Chow CW; Ryan MM; Murrell DF
    Muscle Nerve; 2011 Jul; 44(1):135-41. PubMed ID: 21674528
    [TBL] [Abstract][Full Text] [Related]  

  • 6. PLEC1 mutations underlie adult-onset dilated cardiomyopathy in epidermolysis bullosa simplex with muscular dystrophy.
    Bolling MC; Pas HH; de Visser M; Aronica E; Pfendner EG; van den Berg MP; Diercks GF; Suurmeijer AJ; Jonkman MF
    J Invest Dermatol; 2010 Apr; 130(4):1178-81. PubMed ID: 20016501
    [No Abstract]   [Full Text] [Related]  

  • 7. Novel autosomal recessive LAMA3 and PLEC variants underlie junctional epidermolysis bullosa generalized intermediate and epidermolysis bullosa simplex with muscular dystrophy in two consanguineous families.
    Ahmad F; Shah K; Umair M; Jan A; Irfanullah ; Khan S; Muhammad D; Basit S; Wakil SM; Ramzan K; Ahmad W
    Clin Exp Dermatol; 2018 Aug; 43(6):752-755. PubMed ID: 29797489
    [No Abstract]   [Full Text] [Related]  

  • 8. Pediatric Ophthalmoplegia and Ptosis in Epidermolysis Bullosa Simplex Associated With Muscular Dystrophy.
    Al-Thawabieh W; Lucky AW; Wong B; Motley WW
    J Pediatr Ophthalmol Strabismus; 2018 Aug; 55():e26-e29. PubMed ID: 30180241
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Life-long course and molecular characterization of the original Dutch family with epidermolysis bullosa simplex with muscular dystrophy due to a homozygous novel plectin point mutation.
    Koss-Harnes D; Høyheim B; Jonkman MF; de Groot WP; de Weerdt CJ; Nikolic B; Wiche G; Gedde-Dahl T
    Acta Derm Venereol; 2004; 84(2):124-31. PubMed ID: 15206692
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Plectin defects in epidermolysis bullosa simplex with muscular dystrophy.
    McMillan JR; Akiyama M; Rouan F; Mellerio JE; Lane EB; Leigh IM; Owaribe K; Wiche G; Fujii N; Uitto J; Eady RA; Shimizu H
    Muscle Nerve; 2007 Jan; 35(1):24-35. PubMed ID: 16967486
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A homozygous nonsense mutation in the PLEC1 gene in patients with epidermolysis bullosa simplex with muscular dystrophy.
    Chavanas S; Pulkkinen L; Gache Y; Smith FJ; McLean WH; Uitto J; Ortonne JP; Meneguzzi G
    J Clin Invest; 1996 Nov; 98(10):2196-200. PubMed ID: 8941634
    [TBL] [Abstract][Full Text] [Related]  

  • 12. New mutations in the PLEC gene in a Chinese patient with epidermolysis bullosa simplex with muscular dystrophy.
    Chen Q; Lin ZM; Wang HJ; Zhang J; Yin JH; Yang Y
    Clin Exp Dermatol; 2013 Oct; 38(7):792-4. PubMed ID: 23496806
    [No Abstract]   [Full Text] [Related]  

  • 13. Epidermolysis bullosa simplex with muscular dystrophy.
    Chiavérini C; Charlesworth A; Meneguzzi G; Lacour JP; Ortonne JP
    Dermatol Clin; 2010 Apr; 28(2):245-55, viii. PubMed ID: 20447487
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Identification of a lethal form of epidermolysis bullosa simplex associated with a homozygous genetic mutation in plectin.
    Charlesworth A; Gagnoux-Palacios L; Bonduelle M; Ortonne JP; De Raeve L; Meneguzzi G
    J Invest Dermatol; 2003 Dec; 121(6):1344-8. PubMed ID: 14675180
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Novel PLEC Variant Causes Mild Skin Fragility, Pyloric Atresia, Muscular Dystrophy and Urological Manifestations.
    Valari M; Theodoraki M; Loukas I; Gkantseva-Patsoura S; Karavana G; Falaina V; Lykopoulou L; Pons R; Athanasiou I; Wertheim-Tysarowska K; Kanaka-Gantenbein C; Kiritsi D
    Acta Derm Venereol; 2019 Dec; 99(13):1309-1310. PubMed ID: 31513275
    [No Abstract]   [Full Text] [Related]  

  • 16. Epidermolysis bullosa simplex associated with pyloric atresia is a novel clinical subtype caused by mutations in the plectin gene (PLEC1).
    Nakamura H; Sawamura D; Goto M; Nakamura H; McMillan JR; Park S; Kono S; Hasegawa S; Paku S; Nakamura T; Ogiso Y; Shimizu H
    J Mol Diagn; 2005 Feb; 7(1):28-35. PubMed ID: 15681471
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNE.
    Maselli RA; Arredondo J; Cagney O; Mozaffar T; Skinner S; Yousif S; Davis RR; Gregg JP; Sivak M; Konia TH; Thomas K; Wollmann RL
    Clin Genet; 2011 Nov; 80(5):444-51. PubMed ID: 21175599
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Evaluation of Systemic Gentamicin as Translational Readthrough Therapy for a Patient With Epidermolysis Bullosa Simplex With Muscular Dystrophy Owing to PLEC1 Pathogenic Nonsense Variants.
    Martínez-Santamaría L; Maseda R; de Arriba MDC; Membrilla JA; Sigüenza AI; Mascías J; García M; Quintana L; Esteban-Rodríguez I; Hernández-Fernández CP; Illera N; Duarte B; Guerrero-Aspizúa S; Woodley DT; Del Río M; de Lucas R; Larcher F; Escámez MJ
    JAMA Dermatol; 2022 Apr; 158(4):439-443. PubMed ID: 35234827
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Plectin deficient epidermolysis bullosa simplex with 27-year-history of muscular dystrophy.
    Takahashi Y; Rouan F; Uitto J; Ishida-Yamamoto A; Iizuka H; Owaribe K; Tanigawa M; Ishii N; Yasumoto S; Hashimoto T
    J Dermatol Sci; 2005 Feb; 37(2):87-93. PubMed ID: 15659326
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Epidermolysis bullosa simplex with progressive muscular dystrophy due to plectin deficiency].
    Schuur J; De Weerdt CJ
    Ned Tijdschr Geneeskd; 2000 Aug; 144(32):1565-6. PubMed ID: 10979819
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 6.