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  1 / 1706 MEDLINE  
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[PMID]:29192001
[Au] Autor:Qian G; Zhou CC
[Ad] Endereço:Department of Dermatology, Affiliated Children's Hospital of Zhengzhou University, Zhengzhou, China.
[Ti] Título:A child with nail changes.
[So] Source:BMJ;359:j5192, 2017 11 30.
[Is] ISSN:1756-1833
[Cp] País de publicação:England
[La] Idioma:eng
[Mh] Termos MeSH primário: Doença de Mão, Pé e Boca/complicações
Doenças da Unha/etiologia
Unhas Malformadas/etiologia
[Mh] Termos MeSH secundário: Pré-Escolar
Enterovirus/isolamento & purificação
Doença de Mão, Pé e Boca/virologia
Seres Humanos
Achados Incidentais
Masculino
Doenças da Unha/patologia
Unhas Malformadas/patologia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180305
[Lr] Data última revisão:
180305
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:171202
[St] Status:MEDLINE
[do] DOI:10.1136/bmj.j5192


  2 / 1706 MEDLINE  
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[PMID]:28700664
[Au] Autor:Sundberg JP; Dadras SS; Silva KA; Kennedy VE; Garland G; Murray SA; Sundberg BA; Schofield PN; Pratt CH
[Ad] Endereço:The Jackson Laboratory, Bar Harbor, Maine, United States of America.
[Ti] Título:Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program.
[So] Source:PLoS One;12(7):e0180682, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The International Knockout Mouse Consortium was formed in 2007 to inactivate ("knockout") all protein-coding genes in the mouse genome in embryonic stem cells. Production and characterization of these mice, now underway, has generated and phenotyped 3,100 strains with knockout alleles. Skin and adnexa diseases are best defined at the gross clinical level and by histopathology. Representative retired breeders had skin collected from the back, abdomen, eyelids, muzzle, ears, tail, and lower limbs including the nails. To date, 169 novel mutant lines were reviewed and of these, only one was found to have a relatively minor sebaceous gland abnormality associated with follicular dystrophy. The B6N(Cg)-Far2tm2b(KOMP)Wtsi/2J strain, had lesions affecting sebaceous glands with what appeared to be a secondary follicular dystrophy. A second line, B6N(Cg)-Ppp1r9btm1.1(KOMP)Vlcg/J, had follicular dystrophy limited to many but not all mystacial vibrissae in heterozygous but not homozygous mutant mice, suggesting that this was a nonspecific background lesion. We discuss potential reasons for the low frequency of skin and adnexal phenotypes in mice from this project in comparison to those seen in human Mendelian diseases, and suggest alternative approaches to identification of human disease-relevant models.
[Mh] Termos MeSH primário: Cabelo/anormalidades
Unhas Malformadas/genética
Anormalidades da Pele/genética
[Mh] Termos MeSH secundário: Animais
Camundongos Endogâmicos C57BL
Camundongos Knockout
Glândulas Sebáceas/patologia
Pele/patologia
Vibrissas/patologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170925
[Lr] Data última revisão:
170925
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170713
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0180682


  3 / 1706 MEDLINE  
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[PMID]:28538898
[Au] Autor:Bunjes BG; Fernandes MDCF
[Ad] Endereço:Department of Clinical Medicine of the Escola Paulista de Medicina - Universidade Federal de São Paulo (UNIFESP) - São Paulo (SP), Brazil.
[Ti] Título:Do you know this syndrome? Nail patela syndrome: a pathognomonic dermatologic finding.
[So] Source:An Bras Dermatol;92(2):273-274, 2017 Mar-Apr.
[Is] ISSN:1806-4841
[Cp] País de publicação:Brazil
[La] Idioma:eng
[Ab] Resumo:The nail-patella syndrome involves a clinical tetrad of changes in the nails, knees, elbows and the presence of iliac horns. Nail changes are the most constant feature: absent, hypoplastic, or dystrophic. A pathognomonic finding is the presence of the triangular lunula. The diagnosis of nail-patella syndrome is based on clinical findings. In this paper we will discuss a case report of this syndrome and its relation with a dermatological finding.
[Mh] Termos MeSH primário: Síndrome da Unha-Patela/diagnóstico
[Mh] Termos MeSH secundário: Adulto
Seres Humanos
Joelho/anormalidades
Joelho/diagnóstico por imagem
Masculino
Síndrome da Unha-Patela/diagnóstico por imagem
Unhas Malformadas/etiologia
Adulto Jovem
[Pt] Tipo de publicação:CASE REPORTS
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171006
[Lr] Data última revisão:
171006
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170525
[St] Status:MEDLINE


  4 / 1706 MEDLINE  
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[PMID]:28432163
[Au] Autor:Beirão P; Pereira P; Nunes A; Barreiros H
[Ad] Endereço:Department of Internal Medicine, Hospital Garcia de Orta, Almada, Portugal.
[Ti] Título:An unusually large onychomatricoma.
[So] Source:BMJ Case Rep;2017, 2017 Apr 21.
[Is] ISSN:1757-790X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Onychomatricoma is a rare benign tumour of the nail matrix first described in 1992, and since then, no more than 80 cases have been reported. Despite distinct clinical characteristics, it is frequently misdiagnosed as onychomycosis partly due to remaining an unknown entity. The authors present the case of a patient with a 30-year history of nail abnormalities with more recent growth to alarming dimensions.
[Mh] Termos MeSH primário: Doenças da Unha/cirurgia
Unhas Malformadas/cirurgia
[Mh] Termos MeSH secundário: Idoso de 80 Anos ou mais
Diagnóstico Diferencial
Feminino
Seres Humanos
Doenças da Unha/diagnóstico
Unhas Malformadas/diagnóstico
Resultado do Tratamento
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170613
[Lr] Data última revisão:
170613
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170423
[St] Status:MEDLINE


  5 / 1706 MEDLINE  
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[PMID]:28346496
[Au] Autor:Acuna-Hidalgo R; Deriziotis P; Steehouwer M; Gilissen C; Graham SA; van Dam S; Hoover-Fong J; Telegrafi AB; Destree A; Smigiel R; Lambie LA; Kayserili H; Altunoglu U; Lapi E; Uzielli ML; Aracena M; Nur BG; Mihci E; Moreira LM; Borges Ferreira V; Horovitz DD; da Rocha KM; Jezela-Stanek A; Brooks AS; Reutter H; Cohen JS; Fatemi A; Smitka M; Grebe TA; Di Donato N; Deshpande C; Vandersteen A; Marques Lourenço C; Dufke A; Rossier E; Andre G; Baumer A; Spencer C; McGaughran J; Franke L; Veltman JA; De Vries BB; Schinzel A; Fisher SE; Hoischen A; van Bon BW
[Ad] Endereço:Department of Human Genetics, Radboud Institute of Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
[Ti] Título:Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.
[So] Source:PLoS Genet;13(3):e1006683, 2017 Mar.
[Is] ISSN:1553-7404
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Schinzel-Giedion syndrome (SGS) is a rare developmental disorder characterized by multiple malformations, severe neurological alterations and increased risk of malignancy. SGS is caused by de novo germline mutations clustering to a 12bp hotspot in exon 4 of SETBP1. Mutations in this hotspot disrupt a degron, a signal for the regulation of protein degradation, and lead to the accumulation of SETBP1 protein. Overlapping SETBP1 hotspot mutations have been observed recurrently as somatic events in leukemia. We collected clinical information of 47 SGS patients (including 26 novel cases) with germline SETBP1 mutations and of four individuals with a milder phenotype caused by de novo germline mutations adjacent to the SETBP1 hotspot. Different mutations within and around the SETBP1 hotspot have varying effects on SETBP1 stability and protein levels in vitro and in in silico modeling. Substitutions in SETBP1 residue I871 result in a weak increase in protein levels and mutations affecting this residue are significantly more frequent in SGS than in leukemia. On the other hand, substitutions in residue D868 lead to the largest increase in protein levels. Individuals with germline mutations affecting D868 have enhanced cell proliferation in vitro and higher incidence of cancer compared to patients with other germline SETBP1 mutations. Our findings substantiate that, despite their overlap, somatic SETBP1 mutations driving malignancy are more disruptive to the degron than germline SETBP1 mutations causing SGS. Additionally, this suggests that the functional threshold for the development of cancer driven by the disruption of the SETBP1 degron is higher than for the alteration in prenatal development in SGS. Drawing on previous studies of somatic SETBP1 mutations in leukemia, our results reveal a genotype-phenotype correlation in germline SETBP1 mutations spanning a molecular, cellular and clinical phenotype.
[Mh] Termos MeSH primário: Anormalidades Múltiplas/genética
Proteínas de Transporte/genética
Anormalidades Craniofaciais/genética
Predisposição Genética para Doença/genética
Deformidades Congênitas da Mão/genética
Neoplasias Hematológicas/genética
Deficiência Intelectual/genética
Mutação
Unhas Malformadas/genética
Proteínas Nucleares/genética
[Mh] Termos MeSH secundário: Anormalidades Múltiplas/metabolismo
Anormalidades Múltiplas/patologia
Western Blotting
Proteínas de Transporte/metabolismo
Linhagem Celular
Proliferação Celular/genética
Transformação Celular Neoplásica/genética
Criança
Pré-Escolar
Anormalidades Craniofaciais/metabolismo
Anormalidades Craniofaciais/patologia
Feminino
Perfilação da Expressão Gênica
Estudos de Associação Genética
Mutação em Linhagem Germinativa
Células HEK293
Deformidades Congênitas da Mão/metabolismo
Deformidades Congênitas da Mão/patologia
Neoplasias Hematológicas/metabolismo
Neoplasias Hematológicas/patologia
Seres Humanos
Lactente
Recém-Nascido
Deficiência Intelectual/metabolismo
Deficiência Intelectual/patologia
Masculino
Unhas Malformadas/metabolismo
Unhas Malformadas/patologia
Proteínas Nucleares/metabolismo
Fenótipo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Carrier Proteins); 0 (Nuclear Proteins); 0 (SETBP1 protein, human)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170607
[Lr] Data última revisão:
170607
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170328
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pgen.1006683


  6 / 1706 MEDLINE  
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[PMID]:28247548
[Au] Autor:Khalil S; Hayashi R; Daou L; Staiteieh SA; Abbas O; Bergqvist C; Nemer G; Shimomura Y; Kurban M
[Ad] Endereço:Department of Internal Medicine, American University of Beirut, Beirut, Lebanon.
[Ti] Título:A novel mutation in the RSPO4 gene in a patient with autosomal recessive anonychia.
[So] Source:Clin Exp Dermatol;42(3):313-315, 2017 Apr.
[Is] ISSN:1365-2230
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:The Wnt signalling pathway is a major pathway involved in the embryogenic development of the various organs of the body. Appropriate signalling in this pathway relies on the proper functioning of several proteins including the R-spondin family of proteins. Deactivating mutations in R-spondin 4 are associated with anonychia. We present the case of a 26-year-old man presenting with anonychia of the 20 nails, which had been present since birth. Using genetic studies, we identified a novel nonsense mutation, c.164-165TC>AA, characterized by two consecutive mismatch bases. To our knowledge, this mutation is the first to be reported in R-spondin 4 in a Lebanese population. Evaluating new patients with anonychia provides fruitful clinical and molecular findings.
[Mh] Termos MeSH primário: Códon sem Sentido
Unhas Malformadas/congênito
Trombospondinas/genética
[Mh] Termos MeSH secundário: Adulto
Seres Humanos
Masculino
Unhas Malformadas/genética
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Codon, Nonsense); 0 (RSPO4 protein, human); 0 (Thrombospondins)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171013
[Lr] Data última revisão:
171013
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170302
[St] Status:MEDLINE
[do] DOI:10.1111/ced.13052


  7 / 1706 MEDLINE  
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[PMID]:28225951
[Au] Autor:Fonseca GP; Werner B; Seidel G; Staub HL
[Ad] Endereço:Private Clinic - Vacaria (RS), Brazil.
[Ti] Título:Comparative microscopic analysis of nail clippings from patients with cutaneous psoriasis and psoriatic arthritis.
[So] Source:An Bras Dermatol;92(1):21-25, 2017 Jan-Feb.
[Is] ISSN:1806-4841
[Cp] País de publicação:Brazil
[La] Idioma:eng
[Ab] Resumo:BACKGROUND:: The nail involvement in psoriasis is related to psoriatic arthritis and may represent a predictor of the disease. OBJECTIVES:: To analyze, through nail clipping, clinically normal and dystrophic nails of patients with cutaneous psoriasis and psoriatic arthritis. METHODS:: This is a cross-sectional multicenter study, conducted between August 2011 and March 2012. Patients were divided into four groups: patients with cutaneous psoriasis and onychodystrophy, patients with cutaneous psoriasis and clinically normal nails, patients with psoriatic arthritis and onychodystrophy and patients with psoriatic arthritis and clinically normal nails. We calculated NAPSI (Nail Psoriasis Severity Index) of the nail with more clinically noticeable change. After collection and preparation of the nail clipping, the following microscopic parameters were evaluated: thickness of the nail plate and subungual region, presence or absence of parakeratosis, serous lakes, blood, and fungi. RESULTS:: There were more layers of parakeratosis (p=0.001) and a greater thickness of the subungual region in patients with cutaneous psoriasis and onychodystrophy (p=0.002). Serous lakes were also more present in the same group (p=0.008) and in patients with psoriatic arthritis and normal nails (p=0.047). The other microscopic parameters showed no significant difference between normal and dystrophic nails or between patients with psoriatic arthritis or cutaneous psoriasis. STUDY LIMITATIONS:: Small sample size and use of medications. CONCLUSIONS:: Nail clipping is a simple and quick method to assess the nails of patients with nail psoriasis although does not demonstrate difference between those with joint changes or exclusively cutaneous psoriasis.
[Mh] Termos MeSH primário: Doenças da Unha/etiologia
Doenças da Unha/patologia
Unhas Malformadas/etiologia
Unhas Malformadas/patologia
Psoríase/complicações
Psoríase/patologia
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idoso
Idoso de 80 Anos ou mais
Artrite Psoriásica/complicações
Artrite Psoriásica/patologia
Estudos de Casos e Controles
Estudos Transversais
Feminino
Seres Humanos
Masculino
Meia-Idade
Adulto Jovem
[Pt] Tipo de publicação:COMPARATIVE STUDY; JOURNAL ARTICLE; MULTICENTER STUDY
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171004
[Lr] Data última revisão:
171004
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170223
[St] Status:MEDLINE


  8 / 1706 MEDLINE  
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[PMID]:28002103
[Au] Autor:Gürbüz K; Ozan F; Kayali C; Altay T
[Ad] Endereço:*Department of Orthopedics and Traumatology, Kayseri Training and Research Hospital, Kayseri, Turkey; †Department of Orthopedics and Traumatology, Izmir Bozyaka Training and Research Hospital, Izmir, Turkey.
[Ti] Título:Total Matricectomy and V-Y Advancement Flap Technique in the Treatment of Onychogryphosis.
[So] Source:Dermatol Surg;43(4):583-586, 2017 Apr.
[Is] ISSN:1524-4725
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Onychogryphosis is manifested by irregular thickening and curving of nails and the nailfold, resulting in ram horn appearance. No therapeutic modality that can normalize nails with onychogryphosis is yet available. Recommended therapies include palliative measures and various surgical interventions. OBJECTIVE: The authors reviewed the outcomes of total matricectomy and V-Y advancement flap technique used for nail removal in patients with onychogryphosis at the big toe. MATERIALS AND METHODS: The authors evaluated 14 patients with onychogryphosis, including 8 men and 6 women (15 big toes; 10 at the right foot and 5 at the left foot), who underwent total matricectomy and V-Y advancement flap technique. The general complaints included repeated nail removal, pain, cosmetic complaints, and difficulty in wearing shoe and footwear. RESULTS: Mean age of the patients was 42.4 years. Mean follow-up was 13.5 months. Clinical history revealed at least 2 previous nail removals. No complications were observed during the follow-up period. Mean time to return to daily activities was 4.5 weeks. Patient satisfaction was rated as very good in 9 patients and good in 5 patients. CONCLUSION: The surgical technique employed in patients with onychogryphosis is a safe treatment option with a high success rate.
[Mh] Termos MeSH primário: Hálux/cirurgia
Unhas Malformadas/cirurgia
Retalhos Cirúrgicos
[Mh] Termos MeSH secundário: Adulto
Estética
Feminino
Seguimentos
Seres Humanos
Masculino
Meia-Idade
Dor Pós-Operatória/etiologia
Satisfação do Paciente
Reoperação
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170502
[Lr] Data última revisão:
170502
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161222
[St] Status:MEDLINE
[do] DOI:10.1097/DSS.0000000000001013


  9 / 1706 MEDLINE  
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[PMID]:27808399
[Au] Autor:Hiraiwa T; Yamamoto T
[Ad] Endereço:Department of Dermatology, Fukushima Medical University, Fukushima, Japan.
[Ti] Título:Nail involvement associated with palmoplantar pustulosis.
[So] Source:Int J Dermatol;56(2):e28-e29, 2017 Feb.
[Is] ISSN:1365-4632
[Cp] País de publicação:England
[La] Idioma:eng
[Mh] Termos MeSH primário: Unhas Malformadas/etiologia
Psoríase/complicações
[Mh] Termos MeSH secundário: Adulto
Idoso
Idoso de 80 Anos ou mais
Feminino
Seres Humanos
Japão
Masculino
Meia-Idade
Onicólise/etiologia
Estudos Retrospectivos
Adulto Jovem
[Pt] Tipo de publicação:LETTER
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170804
[Lr] Data última revisão:
170804
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161104
[St] Status:MEDLINE
[do] DOI:10.1111/ijd.13224


  10 / 1706 MEDLINE  
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[PMID]:27219353
[Au] Autor:Perrin C; Cannata GE; Ambrosetti D; Patouraux S; Langbein L; Schweizer J
[Ad] Endereço:*Laboratoire Central d'Anatomie Pathologique, Hôpital L. Pasteur,University of Nice, France; †Nail's Dermatology Consultations, Cannes, France; ‡UOC Dermatologia, Ospedale Civile, Imperia, Italia; and §Division of Genetic of Skin Carcinogenesis, Section of Normal and Neoplastic Epidermal Differentiation, German Cancer Research Center, Heidelberg, Germany.
[Ti] Título:Acquired Localized (Monodactylous) Longitudinal Pachyonychia and Onychocytic Carcinoma In Situ (2 Cases): Part II.
[So] Source:Am J Dermatopathol;39(1):40-44, 2017 Jan.
[Is] ISSN:1533-0311
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The authors have recently proposed to use the name pachyonychia as an umbrella term that includes 2 distinctly different entities in the form of congenital pachyonychia and acquired longitudinal pachyonychia. Congenital pachyonychia is defined by a diffuse hyperkeratosis of the nail bed. Acquired longitudinal pachyonychia correspond to the true definition of pachyonychia, that is, a thickened nail plate without subungual keratosis. Acquired (monodactylous) pachyonychia can be diffuse typifying onychomatricoma or localized as a longitudinal band with three etiological possibilities: onychomatricoma, onychocytic matricoma, and onychocytic carcinoma. On histopathological examination, onychomatricoma is a fibroepithelial tumor; conversely, onychocytic matricoma and carcinoma are purely epithelial tumors. The purpose of this study was to present the clinical, pathological, and immunohistochemical profiles of 2 cases of in situ onychocytic carcinoma, to discuss the role of high-risk human papillomavirus in the pathogenesis of this tumor, and to confirm the interest value of nail clipping microscopy in the surgical planning of the acquired (monodactylous) pachyonychia band pattern. Two men were referred for a longitudinal thickening of the lateral part of the nail plate of their fingers. The bands were yellowish with a faint to dominant black coloration. Nail clippings were obtained before excision in one case; the nail plate was thickened with minute holes in a honeycomb pattern. Nail biopsy specimens revealed an onychocytic carcinoma with epithelial projections inducing active production of the nail plate and multiple minute cavitations into the thick nail plate. Hair-related keratins were expressed in all specimens. One tumor expressed p16 in a diffuse pattern, whereas the other showed an unspecific faint patchy staining. p53 was negative. A clinical finding of longitudinal pachyonychia, which by nail clipping microscopy contains small cavities in a honeycomb-like pattern, should be considered an alert to the possibility of a malignant lesions.
[Mh] Termos MeSH primário: Carcinoma in Situ/patologia
Unhas Malformadas/patologia
Unhas/patologia
Neoplasias Cutâneas/patologia
[Mh] Termos MeSH secundário: Adulto
Biomarcadores Tumorais/análise
Biópsia
Carcinoma in Situ/química
Carcinoma in Situ/cirurgia
Diagnóstico Diferencial
Seres Humanos
Imuno-Histoquímica
Masculino
Meia-Idade
Unhas/química
Unhas/cirurgia
Unhas Malformadas/metabolismo
Unhas Malformadas/cirurgia
Valor Preditivo dos Testes
Neoplasias Cutâneas/química
Neoplasias Cutâneas/cirurgia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers, Tumor)
[Em] Mês de entrada:1701
[Cu] Atualização por classe:170131
[Lr] Data última revisão:
170131
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160525
[St] Status:MEDLINE
[do] DOI:10.1097/DAD.0000000000000579



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