Bibliografie tematiche / Epidermolysis bullosa

Letteratura scientifica selezionata sul tema "Epidermolysis bullosa"

Autore: Grafiati
Pubblicato: 4 giugno 2021
Ultima modifica: 9 marzo 2023

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Articoli di riviste sul tema "Epidermolysis bullosa"

1

Almeida Jr, Hiram Larangeira de, Lísia Nudelmann, Nara Moreira Rocha e Luis Antonio Suita de Castro. "Light and transmission electron microscopy of generalized dystrophic epidermolysis bullosa (Pasini's albopapuloid subtype)". Anais Brasileiros de Dermatologia 87, n. 2 (aprile 2012): 285–87. http://dx.doi.org/10.1590/s0365-05962012000200014.

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Abstract (sommario):
Pasini's albopapuloid epidermolysis bullosa is a very rare subtype of generalized dystrophic dominant epidermolyis bullosa. A 30 year-old white female patient presented since her childhood disseminated small blisters and papules. Light microscopy of a blister showed dermal-epidermal cleavage; moreover, focal areas of dermal-epidermal splitting were also observed. Transmission electron microscopy also identified focal areas of cleavage, which were seen below the lamina densa. It is important to recognize this condition as a variant of epidermolysis bullosa, since the most important cutaneous findings are generalized papules and not blisters and erosions as in other forms of epidermolysis bullosa.
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2

Gardner, Kerry M., e Richard I. Crawford. "Distinguishing Epidermolysis Bullosa Acquisita From Bullous Pemphigoid Without Direct Immunofluorescence". Journal of Cutaneous Medicine and Surgery 22, n. 1 (18 luglio 2017): 22–24. http://dx.doi.org/10.1177/1203475417722734.

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Background: It has been postulated that periodic acid–Schiff staining of basement membrane can predict direct immunofluorescence patterns seen in epidermolysis bullosa acquisita and bullous pemphigoid. It has also been suggested that the type of inflammatory infiltrate or presence of fraying of basal keratinocytes may differentiate these two conditions. Objective: In this study, we aimed to confirm these observations. Methods: We reviewed 13 cases of direct immunofluorescence-confirmed epidermolysis bullosa acquisita and 19 cases of direct immunofluorescence-confirmed bullous pemphigoid, all with a subepidermal blister in the routinely processed specimen. The gold standard for diagnosis of epidermolysis bullosa acquisita vs bullous pemphigoid was taken to be identification of immune deposits on the dermal side (‘floor’ for epidermolysis bullosa acquisita) or the epidermal side (‘roof’ for bullous pemphigoid) of the salt-split direct immunofluorescence specimen. Our tests to distinguish epidermolysis bullosa acquisita from bullous pemphigoid on the routinely processed biopsy included periodic acid–Schiff basement membrane on the blister roof, neutrophilic infiltrate, lack of eosinophilic infiltrate, and absence of keratinocyte fraying. Results: Sensitivity and specificity for each test were as follows: periodic acid–Schiff staining of roof (sensitivity 25%, specificity 95%), neutrophilic infiltrate (sensitivity 54%, specificity 74%), lack of eosinophilic infiltrate (sensitivity 92%, specificity 68%), and absence of keratinocyte fraying (sensitivity 62%, specificity 58%). Conclusions: Features in the routinely processed biopsy were unable to reliably distinguish between epidermolysis bullosa acquisita and bullous pemphigoid. Direct immunofluorescence on salt-split skin remains the standard for differentiation.
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3

Laamari, Kaoutar, Hanane Baybay, Samia Mrabat, Zakia Douhi, Sara Elloudi e Fatima Zahra Mernissi. "Hereditary Epidermolysis Bullosa: New Description". Dermatology and Dermatitis 5, n. 1 (31 marzo 2020): 01–02. http://dx.doi.org/10.31579/2578-8949/066.

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Abstract (sommario):
Epidermolysis bullosa (EB) is a heterogeneous group of genetically determined, mechano-bullous disorders characterized by blister formation in response to mechanical trauma. The blistering of the skin occurs in the varying degrees of severity and can severely incapacitate the life of the afflicted patient. Epidermolysis Bullosa Simplex (EBS), the most commonly occurring type, is dominantly inherited where treatment still remains a major challenge.
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4

Errante, Paolo Ruggero. "Epidermolysis Bullosa. A Rare Disturbance in Clinical Veterinary of Felines". International Journal of Zoology and Animal Biology 5, n. 3 (2022): 1–6. http://dx.doi.org/10.23880/izab-16000379.

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Abstract (sommario):
Epidermolysis bullosa is an inherited group of rare genetic dermatosis characterized by mucocutaneous fragility and blister formation, inducible by often minimal trauma. Epidermolysis bullosa is described in humans and domestic animals, and this dermatosis in humans is classified in four categories based predominantly on the plane of skin cleavage in simplex epidermolysis bullosa, junctional epidermolysis bullosa, dystrophic epidermolysis bullosa and Kindler epidermolysis bullosa. In veterinary medicine the classification of epidermolysis bullosa is based in the human classification the according with the level of ultrastructural separation of skin. The epidermolysis bullosa in cats is a rare disease with a description of isolated cases involving the forms simplex, junctional and dystrophic. The laboratory diagnosis of cats under suspicion of epidermolysis bullosa should include dermo histopathology, transmission electron microscopy, immunofluorescence for antigen mapping and when possible, mutation analysis. There is no specific treatment for epidermolysis bullosa in cats, and care is palliative. The few case reports of epidermolysis bullosa in cats indicates a short time of survival with few months to years, being the cats sacrificed or dying during the first months of life. Due to these factors, it is essential the deep studies of disease in cats so that they can present an increase in expectancy and quality of life.
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5

Yadav, Randhir Sagar, Amar Jayswal, Shumneva Shrestha, Sanjay Kumar Gupta e Upama Paudel. "Dystrophic Epidermolysis Bullosa". Journal of Nepal Medical Association 56, n. 213 (31 ottobre 2018): 879–82. http://dx.doi.org/10.31729/jnma.3791.

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Abstract (sommario):
Epidermolysis bullosa is a rare inherited blistering disease with an incidence of 8-10 per million live births. Dystrophic epidermolysis bullosa is a type of epidermolysis bullosa caused by mutation in type VII collagen, COL7A1. There are 14 subtypes of dystrophic epidermolysis bullosa and 400 mutations of COL7A1. Electron microscopy is the gold standard diagnostic test but expensive. Immunofluorescence study is a suitable diagnostic alternative. Trauma prevention along with supportive care is the mainstay of therapy. Squamous cell carcinoma develops at an early age in epidermolysis bullosa than other patients, particularly in recessive dystrophic epidermolysis bullosa subtypes. Regular follow up is imperative in detecting and preventing complications. Gene therapy, cell therapy and bone marrow transplantation are the emerging novel therapeutic innovations. Preventing possible skin and mucosal injury in patients requiring surgery should be worked on. Here, we present a case of dystrophic epidermolysis bullosa in a 26 year male.
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6

MSALIH, M. A., B. D. LAKE, M. A. HAG e D. J. ATHERTON. "Lethal epidermolytic epidermolysis bullosa: a new autosomal recessive type of epidermolysis bullosa". British Journal of Dermatology 113, n. 2 (agosto 1985): 135–43. http://dx.doi.org/10.1111/j.1365-2133.1985.tb02055.x.

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7

Mahato, Shyam Kumar, Susana Lama, Nikhil Agarwal e Nagendra Chaudhary. "Inherited Epidermolysis Bullosa: A case report". Journal of Universal College of Medical Sciences 3, n. 3 (31 dicembre 2015): 39–42. http://dx.doi.org/10.3126/jucms.v3i3.24248.

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Abstract (sommario):
Epidermolysis bullosa (EB) is a heterogeneous group of genetically determined, mechano-bullous disorders characterized by blister formation in response to mechanical trauma. The blistering of the skin occurs in the varying degrees of severity and can severely incapacitate the life of the afflicted patient. Epidermolysis Bullosa Simplex (EBS), the most commonly occurring type, is dominantly inherited where treatment still remains a major challenge. We report a newborn female with blistering of the skin during the immediate neonatal period.
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8

Prosty, Connor, Justina Guirguis, May Chergui, Waqqas Afif e Elena Netchiporouk. "Epidermolysis bullosa acquisita treated with ustekinumab: A case report". SAGE Open Medical Case Reports 10 (gennaio 2022): 2050313X2210916. http://dx.doi.org/10.1177/2050313x221091600.

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Abstract (sommario):
Epidermolysis bullosa acquisita is a rare autoimmune disease involving cutaneous blistering and scarring associated with collagen VII autoantibodies. Similarly, collagen VII autoantibodies are present in the majority of Crohn’s disease patients and approximately a quarter of epidermolysis bullosa acquisita patients have coexisting Crohn’s disease. Treatment options for epidermolysis bullosa acquisita are limited and are largely ineffective. Here, we describe a 36-year-old female with a history of Crohn’s disease presenting with a 7-year history of severe blistering and scarring of acral surfaces. Diagnostic workup revealed subepidermal cleavage on skin biopsy and elevated serum collagen VII autoantibodies, indicative of epidermolysis bullosa acquisita. She was given ustekinumab for her coexisting Crohn’s disease and, afterwards, her epidermolysis bullosa acquisita resolved as evidenced by a lack of new blisters or scarring. Further studies are required to evaluate the effects of ustekinumab on epidermolysis bullosa acquisita.
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9

KENNA, MARGARET A., SYLVAN E. STOOL e SUSAN B. MALLORY. "Junctional Epidermolysis Bullosa of the Larynx". Pediatrics 78, n. 1 (1 luglio 1986): 172–74. http://dx.doi.org/10.1542/peds.78.1.172.

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Abstract (sommario):
Epidermolysis bullosa is a rare genetically determined, dermatologic disease in which minor trauma causes blister formation.1 A new variant of hereditary epidermolysis bullosa, generalized atrophic benign epidermolysis bullosa, junctional form, has been recently reported.2 Airway involvement has not been a notable feature of this disease. We report the first case of an infant having benign junctional epidermolysis bullosa with laryngeal involvement. CASE REPORT An 11-month-old white boy with known junctional epidermolysis bullosa and mild stridor since birth was referred by his dermatologist for increasing stridor of 24 hours duration. He was initially thought to have croup; however, conservative treatment with mist and racemic epinephrine did not improve his symptoms.
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Hughes, Amy P., e Jeffrey P. Callen. "Epidermolysis Bullosa Acquisita Responsive to Dapsone Therapy". Journal of Cutaneous Medicine and Surgery 5, n. 5 (settembre 2001): 397–99. http://dx.doi.org/10.1177/120347540100500505.

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Abstract (sommario):
Background: Epidermolysis bullosa acquisita (EBA) is a chronic subepidermal blistering disease that is frequently resistant to therapy. Objective: A 58-year-old man who had a one-year history of a bullous eruption involving the hands, forearms, trunk, scalp, and oral mucosa. Histopathology revealed a subepidermal bulla, and direct and indirect immunofluorescence studies were consistent with EBA. The patient failed respond to niacinamide and tetracycline and oral prednisone 40 mg per day. Methods: Complete control of his blistering was achieved within two months of initiating oral dapsone, 150 mg per day. Conclusion: Dapsone may be an effective agent for some patients with EBA.
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Tesi sul tema "Epidermolysis bullosa"

1

Kemp, Matthew W. St George Clinical School UNSW. "Gene studies in epidermolysis bullosa". Awarded by:University of New South Wales. St. George Clinical School, 2005. http://handle.unsw.edu.au/1959.4/23439.

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Abstract (sommario):
Epidermolysis bullosa (EB) is a group of inherited blistering diseases that share the common feature of blister formation subsequent to normal mechanical insult of the epidermis. Despite two decades of investigation at both epidemiological and genetic levels, there remains much yet to be uncovered about the pathophysiology of this disease. This research had dual aims. Firstly, by enrolling patients in Australia and New Zealand with the simplex type of EB (EBS) in a screening programme in conjunction with a highly detailed review of the EB and intermediate filament literatures, we hoped to gain a better understanding of the correlation between genotype and phenotype in EBS. Secondly, we attempted to evaluate the use of baculoviral vectors as a means of introducing the type VII collagen cDNA into human dermal fibroblasts and primary human epidermal keratinocytes. Among the EBS patients screened we identified a novel multi residue deletion in keratin 5 which led to a surprisingly mild form of epidermolysis bullosa Dowling ??? Meara. The quantitative polymerase chain reaction analysis of epidermal tissue from the affected individual showed that the mutant transcript was present at levels 2.7 fold higher than the wild type transcript. We demonstrated a family in which the presence of a previously reported keratin 14 mutation A413T appeared to induce disease expression in only one of the three individuals found to carry the mutations. We also identified two EBS families with no mutations in either keratin 5 or keratin 14. This is the first study to analyse EB patients from New Zealand and the first to report the presence of a deletion mutation in the 2B domain of keratin 5. The results of our type VII collagen transfer work showed that baculoviruses can be engineered to contain insert sequences in excess of 10kb and are able to gain entry to both human dermal fibroblasts and primary human epidermal keratinocytes. Electron microscopy and analyses of the baculoviral vectors showed that the lack of protein expression subsequent to infection of human dermal fibroblasts and primary human epidermal keratinocytes is likely due to the inability of the vector to escape cytoplasmic endosomes.
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2

McKenna, Kevin Eamon. "Molecular analysis of epidermolysis bullosa". Thesis, Queen's University Belfast, 1993. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.357463.

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3

Winship, Ingrid M. "Epidermolysis bullosa in South Africa". Doctoral thesis, University of Cape Town, 1986. http://hdl.handle.net/11427/25674.

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4

Mallipeddi, Rajeev. "Understanding squamous cell carcinoma in epidermolysis bullosa". Thesis, King's College London (University of London), 2005. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.416097.

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5

Al, Maani Noor Walid Salem. "Refining genotype-phenotype correlation in epidermolysis bullosa". Thesis, King's College London (University of London), 2017. https://kclpure.kcl.ac.uk/portal/en/theses/refining-genotypephenotype-correlation-in-epidermolysis-bullosa(0efb4606-e7eb-422c-9402-28c29de6ebfc).html.

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Abstract (sommario):
Dystrophic epidermolysis bullosa results from mutations in COL7A1 that encodes collagen VII, the major component of anchoring fibrils. General paradigms have emerged attributing dominant DEB to heterozygous glycine substitutions and recessive DEB to nonsense, frameshift or splice site mutations on both COL7A1 alleles. Several aspects of the genotype-phenotype heterogeneity encountered in DEB remain unexplained, although genetic, epigenetic and environmental modulators have been implicated. In this thesis, various aspects of DEB were studied, in a bid to refine genotype-phenotype correlation. A detailed analysis of missense GS and non-GS mutations identified 57 novel mutations and was in-keeping with the general established paradigms. Unique clinical entities such as EB-pr and BDN were studied. The role of the matrix metalloproteinase-1 promoter polymorphism, -1607 1G/2G, on disease modification in EB-pr was explored, but was shown to be an unlikely modulator. A large study of BDN, highlighted that intracytoplasmic retention of collagen VII and stellate bodies were not exclusive to BDN and can be associated with various subtypes of DEB, non-EB cases and normal skin. The first case of revertant mosaicism in DEB was studied revealing intragenic cross-over as the underlying mechanism. Finally, intradermal injection of allogeneic fibroblasts was shown to result in increased and sustained expression of COL7A1 possibly through the upregulation of HB-EGF. Recognition of disease modifiers in DEB and refinement of genotype–phenotype correlation will not only further our understanding of DEB but will have implications on diagnosis, counselling and prognosis through patient specific and targeted therapy.
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Jones, S. M. "The ocular complications in children with epidermolysis bullosa". Thesis, University College London (University of London), 2012. http://discovery.ucl.ac.uk/1338582/.

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Abstract (sommario):
Epidermolysis bullosa (EB) describes a group of inherited bullous disorders affecting the basement membrane zone of skin and mucous membranes. It is characterised by fragility and blistering of the skin and mucosa following friction or mechanical trauma. Ocular features are thought to result from a lack of adherence and disruption of the corneal and/or conjunctival epithelium. This thesis aimed to prospectively evaluate the ocular complications occurring in children with EB via comprehensive ocular examination including assessment of the anterior segment, posterior segment and ocular movements. Findings demonstrated the majority of EB patients exhibit signs of meibomian gland dysfunction (MGD) and decreased tear break up time (TBUT), abnormal tear films on Tearscope® evaluation and ocular surface anomalies. Two further cohorts were studied; a) Age-matched control patients with no anterior segment pathology to provide normative data on MGD and TBUT and b) Children diagnosed with MGD who did not suffer from EB to compare the ocular surface phenotype in these, with that in children with EB and MGD. Having identified MGD and an abnormal ocular surface in children with EB, and shown effective management of MGD in otherwise healthy children, translational research was performed to evaluate the effect of potential therapeutic options at a cellular level. Skills in tissue culture and flow cytometry were developed to work with two untransfected conjunctival cell lines (Immortalized Cell Line (IOBA-NHC) and the Wong-Kilbourne derivative of Chang cells) as an in vitro method to investigate the effect of the current therapeutic agents for MGD on the conjunctival epithelial inflammatory response. In conclusion this thesis furthers our understanding of the ocular phenotype in EB subtypes, the aetiology of ocular features and the appropriate management. Findings may allow future therapeutic developments with greater specificity for children with EB.
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Petrova, Anastasia. "Towards hES cell-based therapy of epidermolysis bullosa". Thesis, King's College London (University of London), 2012. https://kclpure.kcl.ac.uk/portal/en/theses/towards-hes-cellbased-therapy-of-epidermolysis-bullosa(79901c47-3f09-41be-b737-fab3127af800).html.

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Abstract (sommario):
Regenerative medicine offers great hope for therapeutic innovation in many diseases, including those with defective skin, such as the group of inherited blistering skin diseases known as epidermolysis bullosa. The work in this thesis addresses some of the important pre-clinical approaches to generating keratinocytes (the main cell of the outer skin layer, epidermis) from pluripotent stem cells (human embryonic stem cells, hESCs). Undifferentiated hESCs were exposed to a complex microenvironment in organotypic cultures (to mimic conditions for epidermal stem cell development and maintenance); this yielded epidermis-like structures which stained positively for basal keratin 14 and several extracellular matrix molecules, although a stratified epidermis was not produced. To refine the protocol, hESCs were differentiated to an epidermal cell fate in monolayer cultures in vitro prior to subjecting them to organotypic culture. The most efficient technique involved culture of hESCs on native de-cellularized extracellular matrix produced by normal human dermal fibroblasts as a substrate for differentiation. Large epitheliaHike sheets positive for keratin 14 and p63 expression were observed. On subculture, these cells retained their morphological and immunocytochemical characteristics for up to 5 passages and could be successfully cryo-preserved and recovered. Overall, this study explored the potential of pluripotent stem cells as a source of epidermal progenitors, with results that provide proof-of-concept for future cell therapy innovations in defective skin diseases such as epidermolysis bullosa.
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Kühl, Tobias Hans-Jürgen [Verfasser], e Leena [Akademischer Betreuer] Bruckner-Tuderman. "Mesenchymal stromal cell therapy for dystrophic epidermolysis bullosa". Freiburg : Universität, 2016. http://d-nb.info/1119452716/34.

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MacDonnell, Samuel. "Recreating Epidermolysis Bullosa Simplex in Zebrafish with Transgenesis". Thesis, Université d'Ottawa / University of Ottawa, 2018. http://hdl.handle.net/10393/38249.

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Abstract (sommario):
Epidermolysis Bullosa simplex (EBS) is a rare genetic disorder that is typically inherited in an autosomal dominant fashion and affects approximately 1 out of 20 000 individuals. This disease is caused by mutations in either the KRT14, KRT5 or PLEC genes. These genes code for proteins involved in the formation of the cytoskeleton in basal keratinocytes, which form the basal layer of the epidermis. The cytoskeleton provides structural support to the basal keratinocytes and mutations in these genes cause cytoskeletal malformations, making these cells more susceptible to physical stress. This results in the cells undergoing lysis under trivial mechanical stress and causing the epidermis to detach from the dermis, the layer immediately below the epidermis. This leads to the primary symptom of EBS: the formation of blisters. The goal of this project is to recreate EBS in zebrafish using transgenesis and to create stable mutant transgenic line. In the future, high throughput drug screening will be done on mutant zebrafish embryos to find potential drug candidates that can alleviate the symptoms of EBS. To accomplish this, missense and deletion mutations in zebrafish krt5 cDNA using site-directed mutagenesis were performed. It was previously shown that mice models for this disease die shortly after birth and thus no stable mutant lines were able to be created. To ensure embryo survival and avoid a similar fate, mutant krt5 cDNA was expressed in non-essential tissue, such as the embryonic fin fold using a fin epithelial-specific enhancer named epi. These constructs were injected into one-cell stage zebrafish embryos, which were raised and screened for integration of the construct in their germ cells. While results from injected embryos were promising, mutant transgenic zebrafish did not demonstrate any blistering. In an attempt to induce blistering, mutant zebrafish embryos were placed under various environmental stressors known to worsen the symptoms of EBS. This was not successful. Expression of mutant keratin 5 in the basal epidermis of the entire embryo using the 2.3kb upstream region of the zebrafish krt5 gene to drive expression also did not yield any results. More investigations are needed to determine if it will be possible to use the zebrafish to model EBS.
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Smith, Frances J. D. "Studies of the molecular basis of epidermolysis bullosa simplex". Thesis, University of Edinburgh, 1994. http://hdl.handle.net/1842/20795.

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The aim of this project was to investigate the possible mechanisms for intraepidermal blistering. Attention was concentrated on locating mutations in the genes encoding keratins K5 and K14, the putative defective genes, in five families affected by the Weber-Cockayne form of EBS, characterised by blisters predominantly on the hands and feet. In four of the five families examined, single nucleotide substitutions resulting in an amino acid change were identified. In two families, mutations were identified in the central non-helical L12 linker domain, one in keratin 5 and the other in keratin 14. This was surprising as relatively little is known about this region, and it was not considered to be particularly important in keratin filament assembly or network formation. Another mutation has been reported in this region in keratin 14 in a family with EBS-Koebner characterised by moderate and generalised blistering. Although just two residues away from the mutation reported here, the difference in severity of the resulting phenotypes emphasises the contribution of individual residues to the overall functioning of the keratin filament network. In the third family a mutation was identified in the 1A domain of keratin 5, at the carboxy terminal of this domain. In the fourth family a tentative mutation was identified near the centre of the 2B domain of keratin 14. Extensive sequencing of both K5 and K14 DNA from members of the fifth family did not identify any sequencing discrepancies and genetic linkage analysis suggested that the disease phenotype in this family was linked to the type I keratins. It is possible though, that mutations in minor basal cell keratins such as keratin 15, or in a keratin associated protein, could lead to the same clinical phenotype. Keratin mutations have now been identified in another bullous disorder, bullous congenital ichthyosiform erythroderma, in the supra basal keratins K1 and K10.
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Libri sul tema "Epidermolysis bullosa"

1

Lin, Andrew N., e D. Martin Carter, a cura di. Epidermolysis Bullosa. New York, NY: Springer New York, 1992. http://dx.doi.org/10.1007/978-1-4612-2914-8.

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2

Fine, Jo-David, e Helmut Hintner, a cura di. Life with Epidermolysis Bullosa (EB). Vienna: Springer Vienna, 2009. http://dx.doi.org/10.1007/978-3-211-79271-1.

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Weiß, Hedwig, e Florian Prinz. Occupational Therapy in Epidermolysis Bullosa. Vienna: Springer Vienna, 2013. http://dx.doi.org/10.1007/978-3-7091-1139-0.

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N, Lin Andrew, e Carter D. Martin 1936-, a cura di. Epidermolysis bullosa: Basic and clinical aspects. New York: Springer-Verlag, 1992.

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5

Jo-David, Fine, e National Epidermolysis Bullosa Registry (U.S.), a cura di. Epidermolysis bullosa: Clinical, epidemiologic, and laboratory advances, and the findings of the National Epidermolysis Bullosa Registry. Baltimore: Johns Hopkins University Press, 1999.

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6

Parker, James N., e Philip M. Parker. The official patient's sourcebook on epidermolysis bullosa. A cura di Icon Group International Inc e NetLibrary Inc. San Diego, Calif: Icon Health Publications, 2002.

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7

Kennedy, Jonny. Jonny Kennedy: The story of the boy whose skin fell off. Newcastle upon Tyne: Tonto, 2007.

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8

Florian, Prinz, a cura di. Occupational therapy in epidermolysis bullosa: A holistic concept for intervention from infancy to adult. Wien: Springer, 2013.

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9

Helmut, Hintner, e SpringerLink (Online service), a cura di. Life with Epidermolysis Bullosa (EB): Etiology, Diagnosis, Multidisciplinary Care and Therapy. Vienna: Springer Vienna, 2009.

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10

C, Priestley G., a cura di. Epidermolysis bullosa: A comprehensive review of classification, management and laboratory studies. Crowthorne: Dystrophic Epidermolysis Bullosa Research Association, 1990.

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Capitoli di libri sul tema "Epidermolysis bullosa"

1

Eady, Robin A. J. "Current Perspectives and Differential Diagnosis in Epidermolysis Bullosa". In Epidermolysis Bullosa, 3–15. New York, NY: Springer New York, 1992. http://dx.doi.org/10.1007/978-1-4612-2914-8_1.

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Lin, Andrew N., e D. Martin Carter. "Dominant Dystrophic Epidermolysis Bullosa: A Clinical Overview". In Epidermolysis Bullosa, 152–65. New York, NY: Springer New York, 1992. http://dx.doi.org/10.1007/978-1-4612-2914-8_10.

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Ergun, Gulchin, e Robert A. Schaefer. "Gastrointestinal Aspects of Epidermolysis Bullosa". In Epidermolysis Bullosa, 169–84. New York, NY: Springer New York, 1992. http://dx.doi.org/10.1007/978-1-4612-2914-8_11.

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Brodie, Scott E. "Ophthalmological Aspects of Epidermolysis Bullosa". In Epidermolysis Bullosa, 185–90. New York, NY: Springer New York, 1992. http://dx.doi.org/10.1007/978-1-4612-2914-8_12.

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Giardina, Patricia J., e Andrew N. Lin. "Hematologic Problems in Epidermolysis Bullosa". In Epidermolysis Bullosa, 191–97. New York, NY: Springer New York, 1992. http://dx.doi.org/10.1007/978-1-4612-2914-8_13.

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Putnam, John J., e George W. Sferra. "Dental Aspects of Epidermolysis Bullosa". In Epidermolysis Bullosa, 198–209. New York, NY: Springer New York, 1992. http://dx.doi.org/10.1007/978-1-4612-2914-8_14.

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Lin, Andrew N., Shelley R. Berson e Robert F. Ward. "Otorhinolaryngologic Aspects of Epidermolysis Bullosa". In Epidermolysis Bullosa, 210–16. New York, NY: Springer New York, 1992. http://dx.doi.org/10.1007/978-1-4612-2914-8_15.

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Lehman, Thomas J. A. "Rheumatologic Aspects of Epidermolysis Bullosa". In Epidermolysis Bullosa, 217–19. New York, NY: Springer New York, 1992. http://dx.doi.org/10.1007/978-1-4612-2914-8_16.

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Rothaus, Kenneth O., e Michael J. Pagnani. "Reconstructive Surgery for Patients with Epidermolysis Bullosa". In Epidermolysis Bullosa, 223–27. New York, NY: Springer New York, 1992. http://dx.doi.org/10.1007/978-1-4612-2914-8_17.

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Kelly, Robert E. "Anesthesia for the Epidermolysis Bullosa Patient". In Epidermolysis Bullosa, 228–34. New York, NY: Springer New York, 1992. http://dx.doi.org/10.1007/978-1-4612-2914-8_18.

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Atti di convegni sul tema "Epidermolysis bullosa"

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Kurniasari, Lydia, Meiza, Yosep Ferdinand Rahmat Sugianto, Radityastuti e Indra Wijaya. "Epidermolysis Bullosa Simplex". In The 2nd International Conference on Tropical Medicine and Infectious Disease. SCITEPRESS - Science and Technology Publications, 2019. http://dx.doi.org/10.5220/0009989703840388.

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Plevey, K. "113 Care of the new-born with epidermolysis bullosa". In Great Ormond Street Hospital Conference 2018: Continuous Care. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2018. http://dx.doi.org/10.1136/goshabs.113.

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Tekutskaya, E., I. Raybova e Lyubov Ramazanovna Gusaruk. "THE DEGREE OF OXIDATIVE DAMAGE TO DNA IN VITRO AS A MOLECULAR PREDICTOR OF DISORDERS CAUSED BY EPIGENETIC AND EXOGENOUS FACTORS". In NEW TECHNOLOGIES IN MEDICINE, BIOLOGY, PHARMACOLOGY AND ECOLOGY. Institute of information technology, 2021. http://dx.doi.org/10.47501/978-5-6044060-1-4.49.

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Abstract (sommario):
In this work, we studied the mechanisms of oxidative damage to DNA molecules isolated from whole blood of healthy donors and patients with epigenetic disease (epidermolysis bullosa) when exposed to an alternating magnetic field of low frequency in vitro, associated with the formation of reactive oxygen species.
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Geist, L., M. Brandt e A. Müller. "Epidermolysis bullosa aquista (EBA) mit Obliteration des Larynx – Ein Case report". In Abstract- und Posterband – 91. Jahresversammlung der Deutschen Gesellschaft für HNO-Heilkunde, Kopf- und Hals-Chirurgie e.V., Bonn – Welche Qualität macht den Unterschied. © Georg Thieme Verlag KG, 2020. http://dx.doi.org/10.1055/s-0040-1710477.

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Machín, A. Ferrer, M. Suarez González, JA Morales Barrios, M. Vera Cabrera, E. Gómez Melini, R. Mesa Expósito e FJ Merino Alonso. "4CPS-039 Allantoin 6% cream in epidermolysis bullosa: a case report". In Abstract Book, 23rd EAHP Congress, 21st–23rd March 2018, Gothenburg, Sweden. British Medical Journal Publishing Group, 2018. http://dx.doi.org/10.1136/ejhpharm-2018-eahpconf.130.

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S, Makarova, Namazova-Baranova L, Murashkin N, Yasakov D, Epishev R, Petrovskaya M, Ereshko O e Chumbadze T. "P39 Nutritional status in patients with different forms of epidermolysis bullosa". In 8th Europaediatrics Congress jointly held with, The 13th National Congress of Romanian Pediatrics Society, 7–10 June 2017, Palace of Parliament, Romania, Paediatrics building bridges across Europe. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2017. http://dx.doi.org/10.1136/archdischild-2017-313273.127.

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Geist, L., M. Brandt e A. Müller. "Epidermolysis bullosa aquista (EBA) with obliteration of the larynx – a case report". In Abstract- und Posterband – 91. Jahresversammlung der Deutschen Gesellschaft für HNO-Heilkunde, Kopf- und Hals-Chirurgie e.V., Bonn – Welche Qualität macht den Unterschied. © Georg Thieme Verlag KG, 2020. http://dx.doi.org/10.1055/s-0040-1710812.

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Auckburally, SH, H. Khan, AE Martinez, JE Mellerio e I. Plumptre. "G413(P) Should the frequency of echocardiogram screening be increased in severe subtypes of epidermolysis bullosa?" In Royal College of Paediatrics and Child Health, Abstracts of the Annual Conference, 24–26 May 2017, ICC, Birmingham. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2017. http://dx.doi.org/10.1136/archdischild-2017-313087.406.

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Ikenberg, E., P. Reilich, S. Krause, HH Goebel, B. Schoser, A. Abicht e MC Walter. "Kongenitale zentronukleäre Myopathie und Epidermolysis bullosa aufgrund einer homozygoten Sequenzvariante c.8306C>G (p.Pro2769Arg) im Plectingen". In 24. Kongress des Medizinisch-Wissenschaftlichen Beirates der Deutschen Gesellschaft für Muskelkranke (DGM) e.V. Georg Thieme Verlag KG, 2019. http://dx.doi.org/10.1055/s-0039-1685052.

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SANTOS, FABIANA MIRANDA MOURA DOS, JULIANA D'AVILA ANDRADE, SAMARA DE QUADROS LOBÊ, CLARICE GARCIA VALADARES XAVIER, ANNA CHRISTINA HIGINO RIOCHA, EVERTON SIVIERO VALE, CRISTINA COSTA DUARTE LANNA e ROSA WEISS TELLES. "SCLEROSING KERATITIS AND EPIDERMOLYSIS BULLOSA ACQUISITA: UNCOMMON MANIFESTATIONS IN A SLE PATIENT WTH A GOOD RESPONSE TO RITUXIMAB". In 36º Congresso Brasileiro de Reumatologia. São Paulo: Editora Blucher, 2019. http://dx.doi.org/10.5151/sbr2019-236.

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Rapporti di organizzazioni sul tema "Epidermolysis bullosa"

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Roop, Dennis, e Jakub Tolar. Stem-cell Based Therapies for Epidermolysis Bullosa. Fort Belvoir, VA: Defense Technical Information Center, ottobre 2013. http://dx.doi.org/10.21236/ada606018.

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Roop, Dennis R. Stem-Cell Based Therapies for Epidermolysis Bullosa. Fort Belvoir, VA: Defense Technical Information Center, ottobre 2014. http://dx.doi.org/10.21236/ada613456.

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Roop, Dennis. Stem-cell Based Therapies for Epidermolysis Bullosa. Fort Belvoir, VA: Defense Technical Information Center, ottobre 2013. http://dx.doi.org/10.21236/ada590831.

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Gerecke, Donald R. Use of Epidermolysis Bullosa Biomarkers in Models of Vesicant Injury. Fort Belvoir, VA: Defense Technical Information Center, settembre 2006. http://dx.doi.org/10.21236/ada461980.

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Mahoney, My G., Ulrich Rodeck e Jouni Uitto. Molecular Characterization of Squamous Cell Carcinomas From Recessive Dystrophic Epidermolysis Bullosa. Fort Belvoir, VA: Defense Technical Information Center, settembre 2006. http://dx.doi.org/10.21236/ada463709.

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Mahoney, My G., Ulrich Rodeck e Jouni Uitto. Molecular Characterization of Squamous Cell Carcinomas Derived from Recessive Dystrophic Epidermolysis Bullosa. Fort Belvoir, VA: Defense Technical Information Center, giugno 2005. http://dx.doi.org/10.21236/ada446877.

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Mahoney, My G., Ulrich Rodeck e Jouni Uitto. Molecular Characterization of Squamous Cell Carcinomas Derived from Recessive Dystropic Epidermolysis Bullosa. Fort Belvoir, VA: Defense Technical Information Center, giugno 2004. http://dx.doi.org/10.21236/ada427184.

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Christiano, Angela M. Development of Genetic Therapies for the Hemidesmosomal Subtypes of Junctional Epidermolysis Bullosa. Fort Belvoir, VA: Defense Technical Information Center, novembre 2001. http://dx.doi.org/10.21236/ada410899.

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Christiano, Angela M. Development of Genetic Therapies for the Hemidesmosomal Subtypes of Junctional Epidermolysis Bullosa. Fort Belvoir, VA: Defense Technical Information Center, novembre 2002. http://dx.doi.org/10.21236/ada411310.

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Mahoney, My G., Ulrich Rodeck e Jouni Uitto. Molecular Characterization of Squamous Cell Carcinomas Derived From Recessive Dystrophic Epidermolysis Bullosa. Fort Belvoir, VA: Defense Technical Information Center, giugno 2003. http://dx.doi.org/10.21236/ada419358.

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