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Pesquisa : C11.250.666 [Categoria DeCS]
Referências encontradas : 170 [refinar]
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[PMID]:27494603
[Au] Autor:Li J; Wang S; Anderson C; Zhao F; Qin Y; Wu D; Wu X; Liu J; He X; Zhao J; Zhang J
[Ad] Endereço:Department of Ophthalmology, the Fourth Affiliated Hospital of China Medical University, Eye Hospital of China Medical University, Key Lens Research Laboratory of Liaoning Province, Shenyang, Liaoning Province, China.
[Ti] Título:Requirement of Smad4 from Ocular Surface Ectoderm for Retinal Development.
[So] Source:PLoS One;11(8):e0159639, 2016.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Microphthalmia is characterized by abnormally small eyes and usually retinal dysplasia, accounting for up to 11% of the blindness in children. Right now there is no effective treatment for the disease, and the underlying mechanisms, especially how retinal dysplasia develops from microphthalmia and whether it depends on the signals from lens ectoderm are still unclear. Mutations in genes of the TGF-ß superfamily have been noted in patients with microphthalmia. Using conditional knockout mice, here we address the question that whether ocular surface ectoderm-derived Smad4 modulates retinal development. We found that loss of Smad4 specifically on surface lens ectoderm leads to microphthalmia and dysplasia of retina. Retinal dysplasia in the knockout mice is caused by the delayed or failed differentiation and apoptosis of retinal cells. Microarray analyses revealed that members of Hedgehog and Wnt signaling pathways are affected in the knockout retinas, suggesting that ocular surface ectoderm-derived Smad4 can regulate Hedgehog and Wnt signaling in the retina. Our studies suggest that defective of ocular surface ectoderm may affect retinal development.
[Mh] Termos MeSH primário: Ectoderma/metabolismo
Retina/metabolismo
Proteína Smad4/metabolismo
[Mh] Termos MeSH secundário: Animais
Apoptose
Diferenciação Celular
Embrião de Mamíferos/metabolismo
Feminino
Hibridização In Situ
Fatores de Transcrição Kruppel-Like/metabolismo
Masculino
Camundongos
Camundongos Knockout
Camundongos Transgênicos
Microftalmia/metabolismo
Microftalmia/patologia
Microftalmia/veterinária
Proteínas do Tecido Nervoso/metabolismo
Reação em Cadeia da Polimerase em Tempo Real
Retina/crescimento & desenvolvimento
Retina/patologia
Displasia Retiniana/metabolismo
Displasia Retiniana/patologia
Displasia Retiniana/veterinária
Proteína Smad4/deficiência
Proteína Smad4/genética
Proteínas Wnt/metabolismo
Via de Sinalização Wnt
Proteína Gli2 com Dedos de Zinco
Proteína Gli3 com Dedos de Zinco
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Gli2 protein, mouse); 0 (Gli3 protein, mouse); 0 (Kruppel-Like Transcription Factors); 0 (Nerve Tissue Proteins); 0 (Smad4 Protein); 0 (Wnt Proteins); 0 (Wnt2b protein, mouse); 0 (Zinc Finger Protein Gli2); 0 (Zinc Finger Protein Gli3)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160806
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0159639


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[PMID]:27387730
[Au] Autor:Nicholas FW; Arnott ER; McGreevy PD
[Ad] Endereço:School of Life and Environmental Sciences, Faculty of Veterinary Science, University of Sydney, Sydney, NSW 2006, Australia. Electronic address: frank.nicholas@sydney.edu.au.
[Ti] Título:Hybrid vigour in dogs?
[So] Source:Vet J;214:77-83, 2016 Aug.
[Is] ISSN:1532-2971
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Evidence from other species justifies the hypotheses that useful hybrid vigour occurs in dogs and that it can be exploited for improved health, welfare and fitness for purpose. Unfortunately, most of the relevant published canine studies do not provide estimates of actual hybrid vigour because of inadequate specification of the parentage of mixed-bred dogs. To our knowledge, only three published studies have shed any light on actual hybrid vigour in dogs. There are two reports of actual hybrid vigour between Labrador and Golden retrievers, the first ranging from +2.5% to -6.0% for components of a standardised applied-stimulus behavioural test, and the second being at least +12.4% for chance of graduating as a guide dog. The third study provides a minimum estimate of negative actual hybrid vigour: crossbreds between Labrador retrievers and poodles had a higher prevalence of multifocal retinal dysplasia than the average prevalence in their purebred parent breeds. The lack of estimates of actual hybrid vigour can be overcome by including the exact nature of the cross (e.g. F1, F2 or backcross) and their purebred parental breeds in the specification of mixed-bred dogs. Even if only F1 crossbreds can be categorised, this change would enable researchers to conduct substantial investigations to determine whether hybrid vigour has any utility for dog breeding.
[Mh] Termos MeSH primário: Cruzamento
Cães/genética
Vigor Híbrido
[Mh] Termos MeSH secundário: Animais
Escala de Avaliação Comportamental
Doenças do Cão/genética
Displasia Retiniana/genética
Displasia Retiniana/veterinária
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170817
[Lr] Data última revisão:
170817
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160709
[St] Status:MEDLINE


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[PMID]:25996076
[Au] Autor:Balikova I; Robson AG; Holder GE; Ostergaard P; Mansour S; Moore AT
[Ad] Endereço:Moorfields Eye Hospital, London, UK.
[Ti] Título:Ocular manifestations of microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) syndrome associated with mutations in KIF11.
[So] Source:Acta Ophthalmol;94(1):92-8, 2016 Feb.
[Is] ISSN:1755-3768
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:PURPOSE: Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is an autosomal dominant condition. Mutations in KIF11 have been found to be causative in approximately 75% of cases. This study describes the ocular phenotype in patients with confirmed KIF11 mutations. METHODS: Standard ophthalmic examination and investigation including visual acuity, refraction and fundus examination was carried out in all patients. Fundus autofluorescence imaging (FAF) was performed in three patients, and four patients underwent spectral domain optical coherence tomography (OCT). Flash electroretinography (ERG) was performed in seven patients, and five underwent additional pattern electroretinography (PERG). RESULTS: The patients ranged in age from 2 to 10 years. Most presented with visual acuity loss. Fundus examination revealed lacunae of chorioretinal atrophy. Pigmentary macular changes and optic disc pallor were present in three of seven patients. Fundus autofluorescence demonstrated hypoautofluorescence at the macula in two of three patients. The lacunae of chorioretinal atrophy were hypoautofluorescent. The OCT showed atrophic maculae in three of four patients. Follow-up in one patient showed no deterioration of the vision over a 9-year period. The lesions appear not to be progressive on the follow-up imaging. Electrophysiology showed generalized rod and cone dysfunction and severe macular dysfunction. Inner retinal dysfunction was evident in three of seven patients. CONCLUSIONS: Patients with KIF11 mutations show a specific ocular phenotype with variable expressivity and intrafamilial variability. Macular atrophy and dysfunction have not been consistently documented before. The fundus lesions appear non-progressive. The findings assist in providing an accurate diagnosis and thus improving the management and follow-up of patients with this syndrome.
[Mh] Termos MeSH primário: Cinesina/genética
Linfedema/diagnóstico
Microcefalia/diagnóstico
Mutação
Doenças Retinianas/diagnóstico
Displasia Retiniana/diagnóstico
[Mh] Termos MeSH secundário: Criança
Pré-Escolar
Eletrorretinografia
Facies
Feminino
Seres Humanos
Linfedema/genética
Masculino
Microcefalia/genética
Imagem Óptica
Fenótipo
Doenças Retinianas/genética
Displasia Retiniana/genética
Tomografia de Coerência Óptica
Acuidade Visual
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (KIF11 protein, human); EC 3.6.4.4 (Kinesin)
[Em] Mês de entrada:1610
[Cu] Atualização por classe:170922
[Lr] Data última revisão:
170922
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150522
[St] Status:MEDLINE
[do] DOI:10.1111/aos.12759


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[PMID]:25522758
[Au] Autor:Rodarte-Almeida AC; Petersen-Jones S; Langohr IM; Occelli L; Dornbusch PT; Shiokawa N; Montiani-Ferreira F
[Ad] Endereço:Veterinary Medicine Department, Federal University of Paraná, Rua dos Funcionários, 1540, Juvevê, Curitiba, PR, 80035-050, Brazil.
[Ti] Título:Retinal dysplasia in American pit bull terriers--phenotypic characterization and breeding study.
[So] Source:Vet Ophthalmol;19(1):11-21, 2016 Jan.
[Is] ISSN:1463-5224
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: The purpose of this study was to investigate the inheritance and phenotype of retinal dysplasia (RD) in the American pit bull terrier. ANIMALS STUDIED: A breeding colony established from a single female pure-bred American pit bull terrier dog with RD. PROCEDURES: A female pure-bred American pit bull terrier with RD was donated to the Veterinary Hospital of Federal University of Paraná, Curitiba, Brazil. A breeding colony was established and the phenotype and inheritance of the condition investigated. Regular ophthalmic examinations and fundus photography were performed on three generations of offspring from the founder animal. Some animals were additionally studied by optical coherence tomography. Ocular histopathology was performed on some animals from the colony. RESULTS: Fifty-seven offspring were produced in two generations from the affected founder female. Thirty-two were diagnosed with RD and showed a spectrum of severity of lesions including multifocal, and or geographic lesions and some developed retinal detachment. Histologic examination demonstrated retinal folds, rosettes, and areas of retinal detachment. The affected dogs were shorter in stature than the unaffected littermates. Breeding studies suggested the trait has an autosomal dominant mode of inheritance. DNA testing showed that the affected dogs were negative for the known gene mutations for canine dwarfism with RD. CONCLUSION: This is a report of a novel inherited form of RD that affects American pit bull terriers.
[Mh] Termos MeSH primário: Doenças do Cão/patologia
Displasia Retiniana/patologia
[Mh] Termos MeSH secundário: Envelhecimento
Animais
Cruzamento
Doenças do Cão/genética
Cães
Feminino
Predisposição Genética para Doença
Masculino
Linhagem
Displasia Retiniana/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Mês de entrada:1610
[Cu] Atualização por classe:161230
[Lr] Data última revisão:
161230
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:141220
[St] Status:MEDLINE
[do] DOI:10.1111/vop.12243


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[PMID]:26494503
[Au] Autor:Meekins JM
[Ad] Endereço:Department of Clinical Sciences, Veterinary Health Center, Kansas State University, Manhattan, KS, USA. Electronic address: jslack@vet.k-state.edu.
[Ti] Título:Acute Blindness.
[So] Source:Top Companion Anim Med;30(3):118-25, 2015 Sep.
[Is] ISSN:1946-9837
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Sudden loss of vision is an ophthalmic emergency with numerous possible causes. Abnormalities may occur at any point within the complex vision pathway, from retina to optic nerve to the visual center in the occipital lobe. This article reviews specific prechiasm (retina and optic nerve) and cerebral cortical diseases that lead to acute blindness. Information regarding specific etiologies, pathophysiology, diagnosis, treatment, and prognosis for vision is discussed.
[Mh] Termos MeSH primário: Cegueira/veterinária
Doenças do Gato/etiologia
Doenças do Cão/etiologia
[Mh] Termos MeSH secundário: Doença Aguda
Animais
Cegueira/diagnóstico
Cegueira/etiologia
Cegueira/terapia
Encefalopatias/complicações
Encefalopatias/fisiopatologia
Encefalopatias/veterinária
Doenças do Gato/diagnóstico
Doenças do Gato/terapia
Gatos
Doenças do Cão/diagnóstico
Doenças do Cão/terapia
Cães
Emergências/veterinária
Anormalidades do Olho/complicações
Anormalidades do Olho/diagnóstico
Anormalidades do Olho/veterinária
Fluoroquinolonas/efeitos adversos
Doenças do Nervo Óptico/complicações
Doenças do Nervo Óptico/veterinária
Degeneração Retiniana/complicações
Degeneração Retiniana/diagnóstico
Degeneração Retiniana/veterinária
Descolamento Retiniano/complicações
Descolamento Retiniano/diagnóstico
Descolamento Retiniano/etiologia
Descolamento Retiniano/veterinária
Doenças Retinianas/induzido quimicamente
Doenças Retinianas/complicações
Doenças Retinianas/diagnóstico
Doenças Retinianas/veterinária
Displasia Retiniana/complicações
Displasia Retiniana/diagnóstico
Displasia Retiniana/veterinária
Córtex Visual/fisiopatologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Fluoroquinolones)
[Em] Mês de entrada:1612
[Cu] Atualização por classe:161230
[Lr] Data última revisão:
161230
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:151024
[St] Status:MEDLINE


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[PMID]:26409309
[Au] Autor:Lambert NG; Mamalis N; Patel BC; Ramasubramanian A
[Ad] Endereço:University of Utah, Salt Lake City, Utah.
[Ti] Título:Unilateral Retinal Dysplasia Mimicking Retinoblastoma.
[So] Source:J Pediatr;167(6):1449-e1, 2015 Dec.
[Is] ISSN:1097-6833
[Cp] País de publicação:United States
[La] Idioma:eng
[Mh] Termos MeSH primário: Retina/patologia
Displasia Retiniana/diagnóstico
Neoplasias da Retina/diagnóstico
Retinoblastoma/diagnóstico
[Mh] Termos MeSH secundário: Diagnóstico Diferencial
Erros de Diagnóstico
Enucleação Ocular
Angiofluoresceinografia
Fundo de Olho
Seres Humanos
Lactente
Masculino
Displasia Retiniana/cirurgia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1603
[Cu] Atualização por classe:151127
[Lr] Data última revisão:
151127
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:150928
[St] Status:MEDLINE


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[PMID]:26059676
[Au] Autor:Hope WC; Cordovez JA; Capasso JE; Hammersmith KM; Eagle RC; Lall-Trail J; Levin AV
[Ad] Endereço:Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, Pennsylvania.
[Ti] Título:Peters anomaly in cri-du-chat syndrome.
[So] Source:J AAPOS;19(3):277-9, 2015 Jun.
[Is] ISSN:1528-3933
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The cri-du-chat syndrome is a rare genetic disorder caused by deletions in the short arm of chromosome 5. It presents with a distinctive catlike high-pitched cry, psychomotor delays, microcephaly, craniofacial abnormalities, and, in many cases, ocular findings. We report the first child with cri-du-chat and the findings of unilateral corneal staphyloma due to Peters anomaly and retinal dysplasia.
[Mh] Termos MeSH primário: Segmento Anterior do Olho/anormalidades
Doenças da Córnea/etiologia
Opacidade da Córnea/complicações
Síndrome do Miado do Gato/complicações
Anormalidades do Olho/complicações
Displasia Retiniana/etiologia
[Mh] Termos MeSH secundário: Deleção Cromossômica
Cromossomos Humanos Par 5/genética
Córnea/patologia
Doenças da Córnea/diagnóstico
Opacidade da Córnea/diagnóstico
Síndrome do Miado do Gato/diagnóstico
Deficiências do Desenvolvimento
Anormalidades do Olho/diagnóstico
Feminino
Seres Humanos
Lactente
Microcefalia/diagnóstico
Microcefalia/etiologia
Microscopia Acústica
Displasia Retiniana/diagnóstico
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Mês de entrada:1601
[Cu] Atualização por classe:161020
[Lr] Data última revisão:
161020
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150611
[St] Status:MEDLINE


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[PMID]:25943428
[Au] Autor:Saqib MA; Nikopoulos K; Ullah E; Sher Khan F; Iqbal J; Bibi R; Jarral A; Sajid S; Nishiguchi KM; Venturini G; Ansar M; Rivolta C
[Ad] Endereço:1] Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad 45320, Pakistan [2] Department of Medical Genetics, University of Lausanne, 1005 Lausanne, Switzerland [3] Pakistan Medical Research Council, Islamabad, 44000, Pakistan.
[Ti] Título:Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies.
[So] Source:Sci Rep;5:9965, 2015 May 06.
[Is] ISSN:2045-2322
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Inherited retinal dystrophies are phenotypically and genetically heterogeneous. This extensive heterogeneity poses a challenge when performing molecular diagnosis of patients, especially in developing countries. In this study, we applied homozygosity mapping as a tool to reduce the complexity given by genetic heterogeneity and identify disease-causing variants in consanguineous Pakistani pedigrees. DNA samples from eight families with autosomal recessive retinal dystrophies were subjected to genome wide homozygosity mapping (seven by SNP arrays and one by STR markers) and genes comprised within the detected homozygous regions were analyzed by Sanger sequencing. All families displayed consistent autozygous genomic regions. Sequence analysis of candidate genes identified four previously-reported mutations in CNGB3, CNGA3, RHO, and PDE6A, as well as three novel mutations: c.2656C > T (p.L886F) in RPGRIP1, c.991G > C (p.G331R) in CNGA3, and c.413-1G > A (IVS6-1G > A) in CNGB1. This latter mutation impacted pre-mRNA splicing of CNGB1 by creating a -1 frameshift leading to a premature termination codon. In addition to better delineating the genetic landscape of inherited retinal dystrophies in Pakistan, our data confirm that combining homozygosity mapping and candidate gene sequencing is a powerful approach for mutation identification in populations where consanguineous unions are common.
[Mh] Termos MeSH primário: Mapeamento Cromossômico/métodos
Consanguinidade
Predisposição Genética para Doença/genética
Polimorfismo de Nucleotídeo Único/genética
Displasia Retiniana/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Criança
Família
Feminino
Marcadores Genéticos/genética
Homozigoto
Seres Humanos
Masculino
Mutação/genética
Paquistão
Linhagem
Análise de Sequência de DNA/métodos
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Genetic Markers)
[Em] Mês de entrada:1602
[Cu] Atualização por classe:150521
[Lr] Data última revisão:
150521
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150507
[St] Status:MEDLINE
[do] DOI:10.1038/srep09965


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[PMID]:25934493
[Au] Autor:Schlögel MJ; Mendola A; Fastré E; Vasudevan P; Devriendt K; de Ravel TJ; Van Esch H; Casteels I; Arroyo Carrera I; Cristofoli F; Fieggen K; Jones K; Lipson M; Balikova I; Singer A; Soller M; Mercedes Villanueva M; Revencu N; Boon LM; Brouillard P; Vikkula M
[Ad] Endereço:Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Avenue Hippocrate 74, bte B1.74.06, B-1200, Brussels, Belgium. matthieu.schlogel@uclouvain.be.
[Ti] Título:No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome.
[So] Source:Orphanet J Rare Dis;10:52, 2015 May 02.
[Is] ISSN:1750-1172
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome (MCLMR) is a rare autosomal dominant disorder with variable expressivity. It is characterized by mild-to-severe microcephaly, often associated with intellectual disability, ocular defects and lymphedema. It can be sporadic or inherited. Eighty-seven patients have been described to carry a mutation in KIF11, which encodes a homotetrameric motor kinesin, EG5. METHODS: We tested 23 unreported MCLMR index patients for KIF11. We also reviewed the clinical phenotypes of all our patients as well as of those described in previously published studies. RESULTS: We identified 14 mutations, 12 of which are novel. We detected mutations in 12 affected individuals, from 6 out of 6 familial cases, and in 8 out of 17 sporadic patients. Phenotypic evaluation of patients (our 26 + 61 earlier published = 87) revealed microcephaly in 91%, eye anomalies in 72%, intellectual disability in 67% and lymphedema in 47% of the patients. Unaffected carriers were rare (4 out of 87: 5%). Family history is not a requisite for diagnosis; 31% (16 out of 52) were de novo cases. CONCLUSIONS: All inherited cases, and 50% of sporadic cases of MCLMR are due to germline KIF11 mutations. It is possible that mosaic KIF11 mutations cause the remainder of sporadic cases, which the methods employed here were not designed to detect. On the other hand, some of them might have another mimicking disorder and genetic defect, as microcephaly is highly heterogeneous. In aggregate, KIF11 mutations likely cause the majority, if not all, of MCLMR.
[Mh] Termos MeSH primário: Microcefalia/genética
[Mh] Termos MeSH secundário: Adulto
Facies
Feminino
Heterozigoto
Seres Humanos
Deficiência Intelectual/genética
Cinesina/genética
Linfedema/genética
Masculino
Mutação
Fenótipo
Displasia Retiniana/genética
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (KIF11 protein, human); EC 3.6.4.4 (Kinesin)
[Em] Mês de entrada:1602
[Cu] Atualização por classe:161125
[Lr] Data última revisão:
161125
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150503
[St] Status:MEDLINE
[do] DOI:10.1186/s13023-015-0271-4


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[PMID]:25764055
[Au] Autor:Mears K; Bakall B; Harney LA; Penticoff JA; Stone EM
[Ad] Endereço:Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City2Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa City.
[Ti] Título:Autosomal Dominant Microcephaly Associated With Congenital Lymphedema and Chorioretinopathy Due to a Novel Mutation in KIF11.
[So] Source:JAMA Ophthalmol;133(6):720-1, 2015 Jun.
[Is] ISSN:2168-6173
[Cp] País de publicação:United States
[La] Idioma:eng
[Mh] Termos MeSH primário: Deleção de Genes
Cinesina/genética
Linfedema/genética
Microcefalia/genética
Mutação/genética
Displasia Retiniana/genética
[Mh] Termos MeSH secundário: Criança
Facies
Angiofluoresceinografia
Seres Humanos
Linfedema/diagnóstico
Masculino
Microcefalia/diagnóstico
Displasia Retiniana/diagnóstico
Tomografia de Coerência Óptica
Acuidade Visual
[Pt] Tipo de publicação:CASE REPORTS; LETTER; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (KIF11 protein, human); EC 3.6.4.4 (Kinesin)
[Em] Mês de entrada:1509
[Cu] Atualização por classe:161125
[Lr] Data última revisão:
161125
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:150313
[St] Status:MEDLINE
[do] DOI:10.1001/jamaophthalmol.2015.199



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