The phenotypic and molecular genetic features of pachyonychia congenita.
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Collapse of the keratin filament network through the expression of mutant keratin 6c observed in a case of focal plantar keratodermaReport of the 10th Annual International Pachyonychia Congenita Consortium MeetingMolecular therapeutics for heritable skin diseasesPachyonychia congenita cornered: report on the 11th Annual International Pachyonychia Congenita Consortium MeetingProgress towards genetic and pharmacological therapies for keratin genodermatoses: current perspective and future promisePCQoL: A Quality of Life Assessment Measure for Pachyonychia Congenita.Gene expression profiling in pachyonychia congenita skinNon-Invasive Intravital Imaging of siRNA-Mediated Mutant Keratin Gene Repression in Skin.Genetic differences among ethnic groups.Laryngeal manifestations of pachyonychia congenita: a clinical case and discussion on management for the otolaryngologist.Novel molecular therapies for heritable skin disordersKeratinization and its disorders.Epidermal barriersKeratins and skin disease.Pachyonychia Congenita Type 1: Case Report and Review of the Literature.Author's Reply: Pachyonychia Congenita Type 1: Case Report and Review of the Literature.Lessons from Animal Models of Cytoplasmic Intermediate Filament Proteins.Best treatment practices for pachyonychia congenita.Lipoplexes from Non-viral Cationic Vectors: DOTAP-DOPE Liposomes and Gemini Micelles.Keratin 17 Mutations in Four Families from India with Pachyonychia Congenita.Pachyonychia Congenita: New Classification and DiagnosisPachyonychia Congenita (K16) with Unusual Features and Good Response to Acitretin.First case of pachyonychia congenita in the Czech Republic.Jadassohn Lewandowsky Syndrome: A Rare EntityThe molecular genetic analysis of the expanding pachyonychia congenita case collection.Re: Digital compression of facial arteries facilitates cutaneous nasal surgery.First Report of Pachyonychia Congenita Type PC-K6a in the Romanian PopulationMutation p.Leu128Pro in the 1A domain of K16 causes pachyonychia congenita with focal palmoplantar keratoderma in a Chinese family.Facial papules in an adolescent with a history of natal teeth.Keratin 6b variant p.Gly499Ser reported in delayed-onset pachyonychia congenita is a non-pathogenic polymorphism.Can skin disease cause neuropathic pain? A study in pachyonychia congenita.Genetic variants in pachyonychia congenita-associated keratins increase susceptibility to tooth decay.Pachyonychia congenita patients with mutations in KRT6A have more extensive disease compared with patients who have mutations in KRT16.Report of the 13th Annual International Pachyonychia Congenita Consortium Symposium.A new KRT16 mutation associated with a phenotype of pachyonychia congenita.Resolution of the plantar hyperkeratosis of pachyonychia congenita during chemotherapy for Ewing sarcoma
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The phenotypic and molecular genetic features of pachyonychia congenita.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 24 March 2011
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vedecký článok
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vetenskaplig artikel
@sv
videnskabelig artikel
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vědecký článek
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name
The phenotypic and molecular genetic features of pachyonychia congenita.
@en
The phenotypic and molecular genetic features of pachyonychia congenita.
@nl
type
label
The phenotypic and molecular genetic features of pachyonychia congenita.
@en
The phenotypic and molecular genetic features of pachyonychia congenita.
@nl
prefLabel
The phenotypic and molecular genetic features of pachyonychia congenita.
@en
The phenotypic and molecular genetic features of pachyonychia congenita.
@nl
P2093
P356
P1476
The phenotypic and molecular genetic features of pachyonychia congenita.
@en
P2093
C David Hansen
Frances J D Smith
Mark J Eliason
P2888
P304
P356
10.1038/JID.2011.59
P407
P50
P577
2011-03-24T00:00:00Z