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Pesquisa : C17.800.329.937 [Categoria DeCS]
Referências encontradas : 574 [refinar]
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[PMID]:28869610
[Au] Autor:Bal E; Park HS; Belaid-Choucair Z; Kayserili H; Naville M; Madrange M; Chiticariu E; Hadj-Rabia S; Cagnard N; Kuonen F; Bachmann D; Huber M; Le Gall C; Côté F; Hanein S; Rosti RÖ; Aslanger AD; Waisfisz Q; Bodemer C; Hermine O; Morice-Picard F; Labeille B; Caux F; Mazereeuw-Hautier J; Philip N; Levy N; Taieb A; Avril MF; Headon DJ; Gyapay G; Magnaldo T; Fraitag S; Crollius HR; Vabres P; Hohl D; Munnich A; Smahi A
[Ad] Endereço:Paris Descartes University, Sorbonne Paris Cité, Paris, France.
[Ti] Título:Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas.
[So] Source:Nat Med;23(10):1226-1233, 2017 Oct.
[Is] ISSN:1546-170X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Basal cell carcinoma (BCC), the most common human cancer, results from aberrant activation of the Hedgehog signaling pathway. Although most cases of BCC are sporadic, some forms are inherited, such as Bazex-Dupré-Christol syndrome (BDCS)-a cancer-prone genodermatosis with an X-linked, dominant inheritance pattern. We have identified mutations in the ACTRT1 gene, which encodes actin-related protein T1 (ARP-T1), in two of the six families with BDCS that were examined in this study. High-throughput sequencing in the four remaining families identified germline mutations in noncoding sequences surrounding ACTRT1. These mutations were located in transcribed sequences encoding enhancer RNAs (eRNAs) and were shown to impair enhancer activity and ACTRT1 expression. ARP-T1 was found to directly bind to the GLI1 promoter, thus inhibiting GLI1 expression, and loss of ARP-T1 led to activation of the Hedgehog pathway in individuals with BDCS. Moreover, exogenous expression of ACTRT1 reduced the in vitro and in vivo proliferation rates of cell lines with aberrant activation of the Hedgehog signaling pathway. In summary, our study identifies a disease mechanism in BCC involving mutations in regulatory noncoding elements and uncovers the tumor-suppressor properties of ACTRT1.
[Mh] Termos MeSH primário: Carcinoma Basocelular/genética
Hipotricose/genética
Proteínas dos Microfilamentos/genética
Neoplasias Cutâneas/genética
[Mh] Termos MeSH secundário: Animais
Sistemas CRISPR-Cas
Imunoprecipitação da Cromatina
Elementos Facilitadores Genéticos/genética
Feminino
Perfilação da Expressão Gênica
Proteínas Hedgehog/metabolismo
Sequenciamento de Nucleotídeos em Larga Escala
Seres Humanos
Masculino
Camundongos
Camundongos Nus
Mutação
Transplante de Neoplasias
Reação em Cadeia da Polimerase
Análise de Sequência de DNA
Transdução de Sinais
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (ACTRT1 protein, human); 0 (Hedgehog Proteins); 0 (Microfilament Proteins); 0 (SHH protein, human)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171016
[Lr] Data última revisão:
171016
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170905
[St] Status:MEDLINE
[do] DOI:10.1038/nm.4368


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[PMID]:28380103
[Au] Autor:Vicente LP; Finzi S; Susanna R; Young TL
[Ad] Endereço:Department of Ophthalmology, Universidade de São Paulo (USP), São Paulo, SP, Brazil.
[Ti] Título:Hypotrichosis with juvenile macular dystrophy: a case report with molecular study.
[So] Source:Arq Bras Oftalmol;80(1):49-51, 2017 Jan-Feb.
[Is] ISSN:1678-2925
[Cp] País de publicação:Brazil
[La] Idioma:eng
[Ab] Resumo:Hypotrichosis with juvenile macular dystrophy is a rare autosomal recessive disorder characterized by sparse scalp hair caused by hair follicle abnormalities as well as progressive retinal degeneration leading to blindness in the second or third decade of life. It is associated with mutations of the cadherin 3 (CDH3) gene, which result in abnormal expression of P-cadherin. Mutations in CDH3 are related to ectodermal dysplasia, ectrodactyly, and macular dystrophy. In this report, we describe an 11-year-old Iranian boy born with a missing left index fingernail and sparse scalp hair who later displayed macular pigmentary changes. Genetic testing of the CDH3 gene revealed a homozygous gene variant at exon 6 (640A>T). This novel in-frame mutation converts a lysine to a premature stop codon, altering synthesis of P-cadherin on chromosome 16q22.
[Mh] Termos MeSH primário: Caderinas/genética
Distrofias Hereditárias da Córnea/genética
Hipotricose/genética
Degeneração Macular/genética
[Mh] Termos MeSH secundário: Criança
Seres Humanos
Irã (Geográfico)
Masculino
Mutação
[Pt] Tipo de publicação:CASE REPORTS
[Nm] Nome de substância:
0 (Cadherins)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171005
[Lr] Data última revisão:
171005
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170406
[St] Status:MEDLINE


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[PMID]:28264599
[Au] Autor:Barrón-Hernández YL; Tosti A
[Ad] Endereço:a Department of Dermatology , General Hospital "Dr. Manuel Gea González" , Mexico City , Mexico.
[Ti] Título:Bimatoprost for the treatment of eyelash, eyebrow and scalp alopecia.
[So] Source:Expert Opin Investig Drugs;26(4):515-522, 2017 Apr.
[Is] ISSN:1744-7658
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:INTRODUCTION: Alopecia is a common condition observed among people of all ages. It is a disorder that can involve only the scalp as observed in androgenetic alopecia or scalp and body as in alopecia areata or patients under chemotherapy treatment. There are several treatment options with different safety and efficacy outcomes. Bimatoprost, a synthetic prostamide F2α analog originally approved for the treatment of ocular hypertension and open-angle glaucoma, is now FDA approved as a 0.03%, solution to be applied once daily to increase eyelashes growth. Areas covered: In this review, the authors evaluate the role of bimatoprost in idiopathic hypotrichosis of the eyelashes, in hypotrichosis of the eyelashes associated to chemotherapy, in alopecia areata of the eyelashes and eyebrows and in androgenetic alopecia. In addition, pharmacokinetics, pharmacodynamics, safety and tolerability of bimatoprost are discussed. Expert opinion: Bimatoprost will likely be the third FDA approved weapon in the fight against hair loss. Prostaglandin analogs are the only possible treatment for hypotrichosis and alopecia of the eyelashes regardless of its etiology. Eyebrow hypotrichosis due to alopecia areata or frontal fibrosis alopecia can also possibly benefit of these medications.
[Mh] Termos MeSH primário: Alopecia/tratamento farmacológico
Bimatoprost/uso terapêutico
Hipotricose/tratamento farmacológico
[Mh] Termos MeSH secundário: Alopecia/patologia
Sobrancelhas
Pestanas
Seres Humanos
Hipotricose/etiologia
Hipotricose/patologia
Couro Cabeludo
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
QXS94885MZ (Bimatoprost)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170404
[Lr] Data última revisão:
170404
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170308
[St] Status:MEDLINE
[do] DOI:10.1080/13543784.2017.1303480


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[PMID]:28094416
[Au] Autor:Classen J; Bettenay SV; Mueller RS
[Ad] Endereço:Janine Classen, Medizinische Kleintierklinik, Zentrum für klinische Kleintiermedizin, Ludwig-Maximilians-Universität München, Veterinärstraße 13, 80539 München, E-Mail: janine.classen@gmx.net.
[Ti] Título:Seasonal leukotrichia in a German shepherd dog. A case report.
[Ti] Título:Saisonale Leukotrichie bei einem Deutschen Schäferhund. Ein Fallbericht..
[So] Source:Tierarztl Prax Ausg K Kleintiere Heimtiere;45(1):46-51, 2017 Feb 09.
[Is] ISSN:1434-1239
[Cp] País de publicação:Germany
[La] Idioma:eng; ger
[Ab] Resumo:Leukotrichia can be caused by a variety of metabolic and inflammatory diseases. Canine alopecia areata is a rare multifactorial benign non-scarring alopecia. This case report describes a seasonally recurrent leukotrichia associated with alopecia areata in a German shepherd dog. Important differential diagnoses were ruled out and histopathology finally confirmed the diagnosis of alopecia areata. Topical tacrolimus and hydrocortisone aceponate were ineffective. The cause for the seasonal character in this case remained undetermined.
[Mh] Termos MeSH primário: Alopecia em Áreas/veterinária
Doenças do Cão/diagnóstico
Hipotricose/veterinária
[Mh] Termos MeSH secundário: Administração Tópica
Alopecia em Áreas/diagnóstico
Alopecia em Áreas/tratamento farmacológico
Animais
Biópsia/veterinária
Diagnóstico Diferencial
Doenças do Cão/tratamento farmacológico
Cães
Hipotricose/diagnóstico
Hipotricose/etiologia
Imuno-Histoquímica/veterinária
Imunossupressores/administração & dosagem
Masculino
Recidiva
Estações do Ano
Pele/patologia
Tacrolimo/administração & dosagem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Immunosuppressive Agents); WM0HAQ4WNM (Tacrolimus)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170809
[Lr] Data última revisão:
170809
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170118
[St] Status:MEDLINE
[do] DOI:10.15654/TPK-160209


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[PMID]:28061825
[Au] Autor:Blanco-Kelly F; Rodrigues-Jacy da Silva L; Sanchez-Navarro I; Riveiro-Alvarez R; Lopez-Martinez MA; Corton M; Ayuso C
[Ad] Endereço:Department of Medical Genetics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz, (IIS-FJD, UAM), Madrid, Spain.
[Ti] Título:New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report.
[So] Source:BMC Med Genet;18(1):1, 2017 Jan 07.
[Is] ISSN:1471-2350
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: CDH3 on 16q22.1 is responsible for two rare autosomal recessive disorders with hypotrichosis and progressive macular dystrophy: Hypotrichosis with Juvenile Macular Dystrophy and Ectodermal Dysplasia, Ectrodactyly and Macular Dystrophy. We present a new case of Hypotrichosis with Juvenile Macular Dystrophy. CASE PRESENTATION: A Spanish male born in 1998 from non-consanguineous healthy parents with a suspected diagnosis of Keratosis Follicularis Spinulosa Decalvans and Retinitis Pigmentosa Inversa referred to our Genetics Department (IIS-Fundación Jiménez Díaz). Molecular study of ABCA4 was performed, and a heterozygous missense p.Val2050Leu variant in ABCA4 was found. Clinical revision reclassified this patient as Hypotrichosis with Juvenile Macular Dystrophy. Therefore, further CDH3 sequencing was performed showing a novel maternal missense change p.Val205Met (probably pathogenic by in silico analysis), and a previously reported paternal frameshift c.830del;p.Gly277Alafs*20, thus supporting the clinical diagnosis.. CONCLUSIONS: This is not only the first Spanish case with this clinical and molecular diagnosis, but a new mutation has been described in CDH3. Moreover, this work reflects the importance of joint assessment of clinical signs and evaluation of pedigree for a correct genetic study approach and diagnostic.
[Mh] Termos MeSH primário: Caderinas/genética
Hipotricose/congênito
Degeneração Macular/genética
[Mh] Termos MeSH secundário: Transportadores de Cassetes de Ligação de ATP/genética
Seres Humanos
Hipotricose/genética
Masculino
Mutação
Linhagem
Adulto Jovem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (ABCA4 protein, human); 0 (CDH3 protein, human); 0 (Cadherins)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170518
[Lr] Data última revisão:
170518
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170108
[St] Status:MEDLINE
[do] DOI:10.1186/s12881-016-0364-5


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[PMID]:27665729
[Au] Autor:Tang S; Hughes E; Lascelles K; Simpson MA; Pal DK; EuroEPINOMICS RES myoclonic astatic epilepsy working group
[Ad] Endereço:King's College London, London, United Kingdom.
[Ti] Título:New SMARCA2 mutation in a patient with Nicolaides-Baraitser syndrome and myoclonic astatic epilepsy.
[So] Source:Am J Med Genet A;173(1):195-199, 2017 Jan.
[Is] ISSN:1552-4833
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:We report a de novo SMARCA2 missense mutation discovered on exome sequencing in a patient with myoclonic astatic epilepsy, leading to reassessment and identification of Nicolaides-Baraitser syndrome. This de novo SMARCA2 missense mutation c.3721C>G, p.Gln1241Glu is the only reported mutation on exon 26 outside the ATPase domain of SMARCA2 to be associated with Nicolaides-Baraitser syndrome and adds to chromatin remodeling as a pathway for epileptogenesis. © 2016 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals, Inc.
[Mh] Termos MeSH primário: Epilepsias Mioclônicas/diagnóstico
Epilepsias Mioclônicas/genética
Deformidades Congênitas do Pé/diagnóstico
Deformidades Congênitas do Pé/genética
Hipotricose/diagnóstico
Hipotricose/genética
Deficiência Intelectual/diagnóstico
Deficiência Intelectual/genética
Mutação
Fatores de Transcrição/genética
[Mh] Termos MeSH secundário: Alelos
Hibridização Genômica Comparativa
Análise Mutacional de DNA
Eletroencefalografia
Éxons
Facies
Feminino
Genótipo
Seres Humanos
Lactente
Imagem por Ressonância Magnética
Fenótipo
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (SMARCA2 protein, human); 0 (Transcription Factors)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171019
[Lr] Data última revisão:
171019
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160927
[St] Status:MEDLINE
[do] DOI:10.1002/ajmg.a.37935


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[PMID]:27504742
[Au] Autor:Rossi A; Miraglia E; Fortuna MC; Calvieri S; Giustini S
[Ad] Endereço:Department of Dermatology and Venereology, "Sapienza" University of Rome, Rome, Italy.
[Ti] Título:Topical cetirizine and oral vitamin D: a valid treatment for hypotrichosis caused by ectodermal dysplasia.
[So] Source:J Eur Acad Dermatol Venereol;31(2):367-370, 2017 Feb.
[Is] ISSN:1468-3083
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Ectodermal dysplasia is a clinically and genetically heterogeneous group of inherited disorders characterized by abnormal development of two or more of the following ectodermal-derived structures: hair, teeth, nails and sweat glands. The hair is the most frequently affected structure. Hair shaft abnormalities are of great concern to these patients, but no effective treatments are available. METHODS: We describe three girls with congenital hypotrichosis (9, 5 and 6 years old) caused by ectodermal dysplasia treated with topical cetirizine solution (2 mL. once daily) and oral vitamin D supplementation (1000 IU daily). RESULTS: After 6 months of treatment, the density of hair on the scalp increased in all patients. The vellus hair was replaced by terminal hair. Hair regrowth was evaluated both from the clinical and trichoscopic point of view. CONCLUSION: We propose a combination of topical cetirizine and oral vitamin D as a rational treatment of choice in congenital hypotrichosis caused by ectodermal dysplasia.
[Mh] Termos MeSH primário: Cetirizina/administração & dosagem
Displasia Ectodérmica/tratamento farmacológico
Hipotricose/tratamento farmacológico
Vitamina D/administração & dosagem
[Mh] Termos MeSH secundário: Administração Oral
Administração Tópica
Criança
Displasia Ectodérmica/complicações
Feminino
Seres Humanos
Hipotricose/etiologia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
1406-16-2 (Vitamin D); YO7261ME24 (Cetirizine)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170515
[Lr] Data última revisão:
170515
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160810
[St] Status:MEDLINE
[do] DOI:10.1111/jdv.13864


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[PMID]:27375176
[Au] Autor:Kinoshita-Ise M; Kubo A; Sasaki T; Umegaki-Arao N; Amagai M; Ohyama M
[Ad] Endereço:Department of Dermatology, Keio University School of Medicine, Tokyo, Japan.
[Ti] Título:Identification of factors contributing to phenotypic divergence via quantitative image analyses of autosomal recessive woolly hair/hypotrichosis with homozygous c.736T>A LIPH mutation.
[So] Source:Br J Dermatol;176(1):138-144, 2017 Jan.
[Is] ISSN:1365-2133
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Autosomal recessive woolly hair/hypotrichosis (ARWH/H) is caused by mutations in LIPH. Homozygotes for the LIPH c.736T>A (p.C246S) mutation, the most prevalent genotype in Japanese patients, present varying degrees of hair loss; however, determinants of this phenotypic diversity remain elusive. OBJECTIVES: To establish methodologies for quantitative assessment of clinical severity and provide a detailed characterization to elucidate the factors contributing to phenotypic divergence. METHODS: Digital image analyses were conducted to convert clinical severities into numerical values. Eight patients with ARWH/H were classified into three groups (mild, severe, very severe), based on severity scores. Dermoscopic images were collected and assessed for total hair numbers and hair thickness for intergroup comparisons. RESULTS: The image analysis detected a difference in hair thickness but not in total hair numbers, between mild and severe cases. A marked decrease in total hair number was noted in an atypical very severe case. Histopathologically, a patient with a mild case demonstrated hair miniaturization and a high telogen/anagen ratio without a decrease in total hair count, endorsing dermoscopic observations. Two children demonstrated spontaneous improvement without an increase in total hair numbers, and two adults responded well to topical minoxidil with increased total hair numbers and hair thickness. CONCLUSIONS: The difference in the frequency of underdeveloped hairs may be a major factor contributing to the clinical diversity of hair sparseness in LIPH c.736T>A homozygotes with ARWH/H. Hence, pharmacological modification to thicken existing fine hairs may provide a therapeutic strategy.
[Mh] Termos MeSH primário: Doenças do Cabelo/genética
Cabelo/anormalidades
Cabelo/patologia
Hipotricose/genética
Lipase/genética
[Mh] Termos MeSH secundário: Adulto
Criança
Pré-Escolar
Dermoscopia/métodos
Feminino
Doenças do Cabelo/tratamento farmacológico
Doenças do Cabelo/patologia
Preparações para Cabelo/uso terapêutico
Homozigoto
Seres Humanos
Hipotricose/tratamento farmacológico
Hipotricose/patologia
Masculino
Minoxidil/uso terapêutico
Mutação/genética
Fenótipo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Hair Preparations); 5965120SH1 (Minoxidil); EC 3.1.1.3 (LIPH protein, human); EC 3.1.1.3 (Lipase)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171003
[Lr] Data última revisão:
171003
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160705
[St] Status:MEDLINE
[do] DOI:10.1111/bjd.14836


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[PMID]:28329620
[Au] Autor:Vaynshtok PM; Tian F; Kaffenberger BH
[Ad] Endereço:1The Ohio State University Department of Internal Medicine, The Ohio State University College of Medicine, Columbus.
[Ti] Título:Acitretin amelioration of Acrokeratosis Paraneoplastica (Bazex Syndrome) in cases of incurable squamous cell carcinoma of the hypopharynx.
[So] Source:Dermatol Online J;22(9), 2016 Sep 15.
[Is] ISSN:1087-2108
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUNDAcrokeratosis paraneoplastica (Bazex Syndrome) is a rare paraneoplastic syndrome and dermatosis that only arises in patients with underlying malignancy and uncommonly resolves with systemic therapy.OBJECTIVE/METHODSWe present a patient with acrokeratosis paraneoplastica that improved significantly with acitretin. We present evidence to justify costs of therapy for insurance purposes. Additionally, there is a single report of acitretin use for Bazex syndrome in the French language.RESULTSWe present a case of acrokeratosis paraneoplastica in a patient with incurable stage IV squamous cell carcinoma of the hypopharynx that significantly improved on acitretin.CONCLUSIONAlthough acrokeratosis paraneoplastica most often is cured by treatment of the underlying squamous cell carcinoma, this case highlights the potential benefit of early initiation of acitretin during malignancy work up and staging. This therapy may also be valuable for patients in which the primary malignancy is unresectable or incurable.
[Mh] Termos MeSH primário: Acitretina/uso terapêutico
Carcinoma Basocelular/tratamento farmacológico
Carcinoma de Células Escamosas/complicações
Neoplasias de Cabeça e Pescoço/complicações
Neoplasias Hipofaríngeas/complicações
Hipotricose/tratamento farmacológico
Ceratolíticos/uso terapêutico
Síndromes Paraneoplásicas/tratamento farmacológico
Dermatopatias/tratamento farmacológico
Neoplasias Cutâneas/tratamento farmacológico
[Mh] Termos MeSH secundário: Idoso
Carcinoma Basocelular/etiologia
Feminino
Seres Humanos
Hipotricose/etiologia
Masculino
Meia-Idade
Síndromes Paraneoplásicas/etiologia
Dermatopatias/etiologia
Neoplasias Cutâneas/etiologia
[Pt] Tipo de publicação:CASE REPORTS; LETTER
[Nm] Nome de substância:
0 (Keratolytic Agents); LCH760E9T7 (Acitretin)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171011
[Lr] Data última revisão:
171011
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170323
[St] Status:MEDLINE


  10 / 574 MEDLINE  
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[PMID]:27617529
[Au] Autor:Elfatoiki FZ; Cordoliani F; Pascal Regane P; Afforitit-Demoge A
[Ad] Endereço:Université Paris Diderot, Sorbonne Paris Cité, AP-HP, Service de Dermatologie, Hôpital Saint Louis, Paris, France. Fatiza59@hotmail.fr.
[Ti] Título:Hypotrichosis with juvenile macular dystrophy: Portuguese case.
[So] Source:Dermatol Online J;22(5), 2016 May 15.
[Is] ISSN:1087-2108
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Hypotrichosis with juvenile macular dystrophy is a rare congenital disease mainly found in the Druze population of Northern Israel. This disorder is caused by the CDH3 mutation encoding P-cadherin, which is expressed in retinal pigment epithelium and hair follicles. An 11-year-old girl who was born to related Portuguese parents, had hypotrichosis since birth and macular dystrophy diagnosed at age 5. Fundus examination and fluorescein angiography revealed located macular pigmentary abnormalities. No molecular analysis was done. A fundus examination should be considered mandatory in the assessment of congenital hypotrichosis.
[Mh] Termos MeSH primário: Hipotricose/congênito
Degeneração Macular/diagnóstico
[Mh] Termos MeSH secundário: Criança
Consanguinidade
Feminino
Fundo de Olho
Seres Humanos
Hipotricose/diagnóstico
Portugal
[Pt] Tipo de publicação:CASE REPORTS; LETTER
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170425
[Lr] Data última revisão:
170425
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160913
[St] Status:MEDLINE



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