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Pesquisa : C15.378.140.855.440 [Categoria DeCS]
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[PMID]:28432223
[Au] Autor:Vo KK; Jarocha DJ; Lyde RB; Hayes V; Thom CS; Sullivan SK; French DL; Poncz M
[Ad] Endereço:Department of Pharmacology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
[Ti] Título:FLI1 level during megakaryopoiesis affects thrombopoiesis and platelet biology.
[So] Source:Blood;129(26):3486-3494, 2017 Jun 29.
[Is] ISSN:1528-0020
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Friend leukemia virus integration 1 (FLI1), a critical transcription factor (TF) during megakaryocyte differentiation, is among genes hemizygously deleted in Jacobsen syndrome, resulting in a macrothrombocytopenia termed Paris-Trousseau syndrome (PTSx). Recently, heterozygote human mutations have been ascribed to cause thrombocytopenia. We studied induced-pluripotent stem cell (iPSC)-derived megakaryocytes (iMegs) to better understand these clinical disorders, beginning with iPSCs generated from a patient with PTSx and iPSCs from a control line with a targeted heterozygous knockout (FLI1 ). PTSx and FLI1 iMegs replicate many of the described megakaryocyte/platelet features, including a decrease in iMeg yield and fewer platelets released per iMeg. Platelets released in vivo from infusion of these iMegs had poor half-lives and functionality. We noted that the closely linked E26 transformation-specific proto-oncogene 1 (ETS1) is overexpressed in these FLI1-deficient iMegs, suggesting FLI1 negatively regulates ETS1 in megakaryopoiesis. Finally, we examined whether FLI1 overexpression would affect megakaryopoiesis and thrombopoiesis. We found increased yield of noninjured, in vitro iMeg yield and increased in vivo yield, half-life, and functionality of released platelets. These studies confirm heterozygosity results in pleiotropic defects similar to those noted with other critical megakaryocyte-specific TFs; however, unlike those TFs, FLI1 overexpression improved yield and functionality.
[Mh] Termos MeSH primário: Síndrome da Deleção Distal 11q de Jacobsen/patologia
Megacariócitos/citologia
Proteína Proto-Oncogênica c-fli-1/sangue
Trombopoese
[Mh] Termos MeSH secundário: Animais
Plaquetas/metabolismo
Diferenciação Celular
Linhagem Celular
Seres Humanos
Células-Tronco Pluripotentes Induzidas
Camundongos
Camundongos SCID
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (FLI1 protein, human); 0 (Proto-Oncogene Protein c-fli-1)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170919
[Lr] Data última revisão:
170919
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170423
[St] Status:MEDLINE
[do] DOI:10.1182/blood-2017-02-770958


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[PMID]:28254208
[Au] Autor:Chen CP; Wang LK; Wu PC; Chang TY; Chern SR; Wu PS; Chen YN; Chen SW; Lee CC; Yang CW; Wang W
[Ad] Endereço:Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Biotechnology, Asia University, Taichung, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical Universi
[Ti] Título:Molecular cytogenetic characterization of Jacobsen syndrome (11q23.3-q25 deletion) in a fetus associated with double outlet right ventricle, hypoplastic left heart syndrome and ductus venosus agenesis on prenatal ultrasound.
[So] Source:Taiwan J Obstet Gynecol;56(1):102-105, 2017 Feb.
[Is] ISSN:1875-6263
[Cp] País de publicação:China (Republic : 1949- )
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: We present molecular cytogenetic characterization of Jacobsen syndrome (11q23.3-q25 deletion) in a fetus associated with double outlet right ventricle (DORV), hypoplastic left heart syndrome (HLHS), and ductus venosus (DV) agenesis on prenatal ultrasound. CASE REPORT: A 26-year-old woman underwent prenatal ultrasound examination at 22 weeks of gestation, which revealed intrauterine growth restriction, short femurs, DORV, HLHS, DV agenesis, single umbilical artery, and curly fourth toe of the left foot. The parents elected to terminate the pregnancy, and a 500-g female fetus was delivered at 23 weeks of gestation with facial dysmorphism, bilateral camptodactyly, and hammertoes. The parental karyotypes were normal. Cytogenetic analysis of the cord blood and umbilical cord revealed a karyotype of 46,XX,del(11)(q23). Array comparative genomic hybridization analysis of the DNA extracted from the umbilical cord revealed a 14.38-Mb deletion of 11q23.3-q25 encompassing BSX, ETS1, FLI1, and ARHGAP32. Metaphase fluorescence in situ hybridization analysis using the probes RP11-209L12 (11q25) and RP11-25M7 (11q11) showed a distal 11q deletion in the aberrant chromosome 11 in 17/17 cells examined. CONCLUSION: Prenatal diagnosis of DORV, HLHS, DV agenesis associated with intrauterine growth restriction and short limbs should include a differential diagnosis of Jacobsen syndrome.
[Mh] Termos MeSH primário: Deleção Cromossômica
Dupla Via de Saída do Ventrículo Direito/genética
Síndrome do Coração Esquerdo Hipoplásico/genética
Síndrome da Deleção Distal 11q de Jacobsen/genética
[Mh] Termos MeSH secundário: Anormalidades Múltiplas/genética
Adulto
Cromossomos Humanos Par 11
Hibridização Genômica Comparativa
Dupla Via de Saída do Ventrículo Direito/diagnóstico por imagem
Feminino
Retardo do Crescimento Fetal/genética
Idade Gestacional
Seres Humanos
Síndrome do Coração Esquerdo Hipoplásico/diagnóstico por imagem
Hibridização in Situ Fluorescente
Cariotipagem
Gravidez
Ultrassonografia Pré-Natal
Veias Umbilicais/anormalidades
Veia Cava Inferior/anormalidades
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170825
[Lr] Data última revisão:
170825
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170304
[St] Status:MEDLINE


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[PMID]:28211970
[Au] Autor:Grossfeld P
[Ad] Endereço:Division of Cardiology, Department of Pediatrics, UCSD School of Medicine, San Diego, California.
[Ti] Título:Brain hemorrhages in Jacobsen syndrome: A retrospective review of six cases and clinical recommendations.
[So] Source:Am J Med Genet A;173(3):667-670, 2017 Mar.
[Is] ISSN:1552-4833
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Jacobsen syndrome is a rare chromosomal disorder caused by distal deletions in the long arm of chromosome 11. All patients with Jacobsen syndrome have Paris-Trousseau syndrome, a bleeding disorder that causes neonatal thrombocytopenia, and persistent platelet dysfunction. Despite that, to date there are no reported cases of hemorrhagic strokes occurring in patients with Jacobsen syndrome. In the last 6 years at least six cases of brain hemorrhages in patients with Jacobsen syndrome have occurred. In this report, we perform a retrospective review of these six cases. The analysis indicates that the etiology of brain hemorrhages in Jacobsen syndrome is likely multifactorial. A likely cause (or causes) was identified in three of the cases, and additional potential risk factors were identified. Based on these findings, clinical recommendations are provided that should aid in the identification of those individuals with Jacobsen syndrome that are at increased risk for brain hemorrhages, and will hopefully decrease the occurrence of this devastating complication in people with Jacobsen syndrome.© 2017 Wiley Periodicals, Inc.
[Mh] Termos MeSH primário: Hemorragias Intracranianas/diagnóstico
Hemorragias Intracranianas/etiologia
Síndrome da Deleção Distal 11q de Jacobsen/complicações
[Mh] Termos MeSH secundário: Adolescente
Criança
Diagnóstico por Imagem
Gerenciamento Clínico
Evolução Fatal
Feminino
Testes Hematológicos
Seres Humanos
Lactente
Síndrome da Deleção Distal 11q de Jacobsen/diagnóstico
Síndrome da Deleção Distal 11q de Jacobsen/genética
Masculino
Fatores de Risco
Adulto Jovem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[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:170218
[St] Status:MEDLINE
[do] DOI:10.1002/ajmg.a.38032


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[PMID]:27605496
[Au] Autor:Blazina S; Ihan A; Lovrecic L; Hovnik T
[Ad] Endereço:Department of Allergy, Rheumatology and Clinical Immunology, Children's Hospital Ljubljana, University Medical Centre Ljubljana, Ljubljana, Slovenia.
[Ti] Título:11q terminal deletion and combined immunodeficiency (Jacobsen syndrome): Case report and literature review on immunodeficiency in Jacobsen syndrome.
[So] Source:Am J Med Genet A;170(12):3237-3240, 2016 Dec.
[Is] ISSN:1552-4833
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Antibody deficiency is common finding in patients with Jacobsen syndrome (JS). In addition, there have been few reports of T-cell defects in this condition, possibly because most of the reported patients have not been specifically evaluated for T-cell function. In this article, we present a child with an 11q deletion and combined immunodeficiency and we perform a literature overview on immunodeficiency in JS. Our patient presented with recurrent bacterial and prolonged viral infections involving the respiratory system, as well as other classic features of the syndrome. In addition to low IgM, IgG4, and B-cells, also low recent thymic emigrants, helper and naïve T-cells were found. We propose that patients with Jacobsen syndrome need thorough immunological evaluations as T-cell dysfunction might be more prevalent than previously reported. Patients with infections consistent with T-cell defects should be classified as having combined immunodeficiency. © 2016 Wiley Periodicals, Inc.
[Mh] Termos MeSH primário: Deleção Cromossômica
Cromossomos Humanos Par 11
Síndromes de Imunodeficiência/diagnóstico
Síndromes de Imunodeficiência/genética
Síndrome da Deleção Distal 11q de Jacobsen/diagnóstico
Síndrome da Deleção Distal 11q de Jacobsen/genética
Fenótipo
[Mh] Termos MeSH secundário: Adolescente
Bandeamento Cromossômico
Hibridização Genômica Comparativa
Feminino
Estudos de Associação Genética
Seres Humanos
Isotipos de Imunoglobulinas/imunologia
Imunofenotipagem
Hibridização in Situ Fluorescente
Linfócitos/imunologia
Linfócitos/metabolismo
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Immunoglobulin Isotypes)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171026
[Lr] Data última revisão:
171026
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160909
[St] Status:MEDLINE
[do] DOI:10.1002/ajmg.a.37859


  5 / 61 MEDLINE  
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[PMID]:27421024
[Au] Autor:Li LL; Zhang HG; Shao XG; Gao JC; Zhang HY; Liu RZ
[Ad] Endereço:Center for Reproductive Medicine, Center for Prenatal Diagnosis, The First Hospital of Jilin University, Changchun, China.
[Ti] Título:De novo interstitial deletion in the long arm of chromosome 11: a case report.
[So] Source:Genet Mol Res;15(2), 2016 Jul 14.
[Is] ISSN:1676-5680
[Cp] País de publicação:Brazil
[La] Idioma:eng
[Ab] Resumo:The 11q terminal deletion disorder is a rare genetic disorder associated with numerous clinical features. A few case reports have been made about de novo interstitial deletion of chromosome 11q. However, due to the heterogeneity in size and position of the deletions, a clear genotype-phenotype correlation is not easily made. Here we report a case interstitial 20.5-Mb deletion at chromosome 11q13.4q21, as confirmed by array comparative genomic hybridization. Dysmorphic features such as coarse facial features, congenital laryngomalacia, oblique inguinal hernia, high-arched palate, and camptodactyly were observed in the subject. The present case broadens the spectrum of clinical findings observed in individuals with 11q interstitial deletion.
[Mh] Termos MeSH primário: Deleção Cromossômica
Cromossomos Humanos Par 11
Síndrome da Deleção Distal 11q de Jacobsen/genética
[Mh] Termos MeSH secundário: Cariótipo Anormal
Anormalidades Múltiplas/genética
Hibridização Genômica Comparativa
Seres Humanos
Recém-Nascido
Síndrome da Deleção Distal 11q de Jacobsen/diagnóstico
Masculino
Fenótipo
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170324
[Lr] Data última revisão:
170324
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160716
[St] Status:MEDLINE
[do] DOI:10.4238/gmr.15028403


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[PMID]:27317214
[Au] Autor:Yu F; Carter JE; Bazan C
[Ad] Endereço:University of Texas Health Science Center San Antonio. Electronic address: yuf@uthscsa.edu.
[Ti] Título:A case of Jacobsen syndrome with multifocal white matter lesions.
[So] Source:Clin Imaging;40(4):705-6, 2016 Jul-Aug.
[Is] ISSN:1873-4499
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Jacobsen syndrome is a rare disorder caused by partial deletions of the long arm of chromosome 11. The phenotype is variable with involvement of multiple organ systems, resulting in congenital heart defects, blood dyscrasias, and impaired growth. We describe a case of a 30-year-old man with multiple ophthalmic manifestations and brain magnetic resonance imaging (MRI) that was remarkable for multiple T2-hyperintense subcortical white matter lesions. It is important to be aware that patients with Jacobsen syndrome may have nonspecific white changes seen on MRI.
[Mh] Termos MeSH primário: Encefalopatias/complicações
Encefalopatias/patologia
Síndrome da Deleção Distal 11q de Jacobsen/complicações
Imagem por Ressonância Magnética
Substância Branca/patologia
[Mh] Termos MeSH secundário: Adulto
Meios de Contraste
Gadolínio
Seres Humanos
Aumento da Imagem
Masculino
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Contrast Media); AU0V1LM3JT (Gadolinium)
[Em] Mês de entrada:1612
[Cu] Atualização por classe:161217
[Lr] Data última revisão:
161217
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160619
[St] Status:MEDLINE


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[PMID]:27020790
[Au] Autor:Tassano E; Janis S; Canepa A; Zanotto E; Torello C; Gimelli G; Cuoco C
[Ad] Endereço:Laboratorio di Citogenetica, Istituto Giannina Gaslini, L.go G.Gaslini 5, 16147, Genova, Italy. eli.tassano@gmail.com.
[Ti] Título:Interstitial 11q24 deletion: a new case and review of the literature.
[So] Source:J Appl Genet;57(3):357-62, 2016 Aug.
[Is] ISSN:2190-3883
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:We describe a 19-month-old male presenting with right stenotic megaureter, anemia and thrombocytopenia, cardiac and ophthalmologic abnormalities. Analysis with array-based comparative genomic hybridization (aCGH) revealed an interstitial deletion of about 2.4 Mb of chromosome 11q24.2q24.3. We compared the phenotype of our patient with that of recently reported patients studied by aCGH, who showed an overlapping deletion. We also analysed the gene content of the deleted region in order to investigate the possible involvement of specific genes in the clinical phenotype.
[Mh] Termos MeSH primário: Síndrome da Deleção Distal 11q de Jacobsen/diagnóstico
[Mh] Termos MeSH secundário: Deleção Cromossômica
Cromossomos Humanos Par 11/genética
Hibridização Genômica Comparativa
Genótipo
Seres Humanos
Lactente
Síndrome da Deleção Distal 11q de Jacobsen/genética
Masculino
Fenótipo
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1701
[Cu] Atualização por classe:171111
[Lr] Data última revisão:
171111
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160330
[St] Status:MEDLINE
[do] DOI:10.1007/s13353-015-0333-2


  8 / 61 MEDLINE  
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[PMID]:26979507
[Au] Autor:Nakamura T; Arima-Yoshida F; Sakaue F; Nasu-Nishimura Y; Takeda Y; Matsuura K; Akshoomoff N; Mattson SN; Grossfeld PD; Manabe T; Akiyama T
[Ad] Endereço:Laboratory of Molecular and Genetic Information, Institute of Molecular and Cellular Biosciences, The University of Tokyo, Bunkyo-ku, Tokyo 113-0032, Japan.
[Ti] Título:PX-RICS-deficient mice mimic autism spectrum disorder in Jacobsen syndrome through impaired GABAA receptor trafficking.
[So] Source:Nat Commun;7:10861, 2016 Mar 16.
[Is] ISSN:2041-1723
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Jacobsen syndrome (JBS) is a rare congenital disorder caused by a terminal deletion of the long arm of chromosome 11. A subset of patients exhibit social behavioural problems that meet the diagnostic criteria for autism spectrum disorder (ASD); however, the underlying molecular pathogenesis remains poorly understood. PX-RICS is located in the chromosomal region commonly deleted in JBS patients with autistic-like behaviour. Here we report that PX-RICS-deficient mice exhibit ASD-like social behaviours and ASD-related comorbidities. PX-RICS-deficient neurons show reduced surface γ-aminobutyric acid type A receptor (GABAAR) levels and impaired GABAAR-mediated synaptic transmission. PX-RICS, GABARAP and 14-3-3ζ/θ form an adaptor complex that interconnects GABAAR and dynein/dynactin, thereby facilitating GABAAR surface expression. ASD-like behavioural abnormalities in PX-RICS-deficient mice are ameliorated by enhancing inhibitory synaptic transmission with a GABAAR agonist. Our findings demonstrate a critical role of PX-RICS in cognition and suggest a causal link between PX-RICS deletion and ASD-like behaviour in JBS patients.
[Mh] Termos MeSH primário: Transtorno do Espectro Autista/genética
Comportamento Animal/fisiologia
Proteínas Ativadoras de GTPase/genética
Síndrome da Deleção Distal 11q de Jacobsen/genética
Transporte Proteico/genética
Receptores de GABA-A/metabolismo
Comportamento Social
[Mh] Termos MeSH secundário: Animais
Transtorno do Espectro Autista/metabolismo
Transtorno do Espectro Autista/psicologia
Comportamento Animal/efeitos dos fármacos
Clonazepam/farmacologia
Agonistas de Aminoácidos Excitatórios/toxicidade
Moduladores GABAérgicos/farmacologia
Asseio Animal
Síndrome da Deleção Distal 11q de Jacobsen/metabolismo
Síndrome da Deleção Distal 11q de Jacobsen/psicologia
Ácido Caínico/toxicidade
Camundongos
Camundongos Knockout
Percepção Olfatória/efeitos dos fármacos
Percepção Olfatória/genética
Convulsões/induzido quimicamente
Convulsões/genética
Comportamento Estereotipado/efeitos dos fármacos
Comportamento Estereotipado/fisiologia
Vocalização Animal/efeitos dos fármacos
Vocalização Animal/fisiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Excitatory Amino Acid Agonists); 0 (GABA Modulators); 0 (GC-GAP protein, mouse); 0 (GTPase-Activating Proteins); 0 (Receptors, GABA-A); 5PE9FDE8GB (Clonazepam); SIV03811UC (Kainic Acid)
[Em] Mês de entrada:1608
[Cu] Atualização por classe:170220
[Lr] Data última revisão:
170220
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160317
[St] Status:MEDLINE
[do] DOI:10.1038/ncomms10861


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[PMID]:26566921
[Au] Autor:Dalm VA; Driessen GJ; Barendregt BH; van Hagen PM; van der Burg M
[Ad] Endereço:Department of Internal Medicine, Erasmus MC, 's-Gravendijkwal 230, 3015 CE, Rotterdam, The Netherlands. v.dalm@erasmusmc.nl.
[Ti] Título:The 11q Terminal Deletion Disorder Jacobsen Syndrome is a Syndromic Primary Immunodeficiency.
[So] Source:J Clin Immunol;35(8):761-8, 2015 Nov.
[Is] ISSN:1573-2592
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Jacobsen syndrome (JS) is a rare contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. Clinical features include physical and mental growth retardation, facial dysmorphism, thrombocytopenia, impaired platelet function and pancytopenia. In case reports, recurrent infections and impaired immune cell function compatible with immunodeficiency were described. However, Jacobsen syndrome has not been recognized as an established syndromic primary immunodeficiency. GOAL: To evaluate the presence of immunodeficiency in a series of 6 patients with JS. METHODS: Medical history of 6 patients with JS was evaluated for recurrent infections. IgG, IgA, IgM and specific antibodies against S. pneumoniae were measured. Response to immunization with a polysaccharide vaccine (Pneumovax) was measured and B and T lymphocyte subset analyses were performed using flowcytometry. RESULTS: Five out of 6 patients suffered from recurrent infections. These patients had low IgG levels and impaired response to S. pneumoniae polysaccharide vaccination. Moreover, we also found a significant decrease in the absolute number of memory B cells, suggesting a defective germinal center function. In a number of patients, low numbers of T lymphocytes and NK cells were found. CONCLUSIONS: Most patients with JS suffer from combined immunodeficiency in the presence of recurrent infections. Therefore, we consider JS a syndromic primary immunodeficiency. Early detection of immunodeficiency may reduce the frequency and severity of infections. All JS patients should therefore undergo immunological evaluation. Future studies in a larger cohort of patients will more precisely define the pathophysiology of the immunodeficiency in JS.
[Mh] Termos MeSH primário: Linfócitos B/imunologia
Deleção Cromossômica
Cromossomos Humanos Par 11/genética
Centro Germinativo/imunologia
Síndromes de Imunodeficiência/epidemiologia
Infecção/epidemiologia
Síndrome da Deleção Distal 11q de Jacobsen/epidemiologia
[Mh] Termos MeSH secundário: Adolescente
Adulto
Criança
Dinamarca
Feminino
Seres Humanos
Síndromes de Imunodeficiência/imunologia
Infecção/imunologia
Síndrome da Deleção Distal 11q de Jacobsen/imunologia
Masculino
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1609
[Cu] Atualização por classe:170220
[Lr] Data última revisão:
170220
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:151115
[St] Status:MEDLINE
[do] DOI:10.1007/s10875-015-0211-z


  10 / 61 MEDLINE  
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[PMID]:26494917
[Au] Autor:Di Paola J
[Ad] Endereço:UNIVERSITY OF COLORADO SCHOOL OF MEDICINE.
[Ti] Título:Paris-Trousseau: evidence keeps pointing to FLI1.
[So] Source:Blood;126(17):1973-4, 2015 Oct 22.
[Is] ISSN:1528-0020
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:In this issue of Blood, Stevenson et al describe a family with a homozygous missense mutation in FLI1 that is associated with a platelet phenotype identical to the one observed in Paris-Trousseau syndrome, supporting existing evidence that FLI1 is directly involved in the mechanism of thrombocytopenia observed in this disease.
[Mh] Termos MeSH primário: Cromossomos Humanos Par 11/genética
DNA/metabolismo
Síndrome da Deleção Distal 11q de Jacobsen/genética
Mutação/genética
Proteína Proto-Oncogênica c-fli-1/genética
[Mh] Termos MeSH secundário: Feminino
Seres Humanos
Masculino
[Pt] Tipo de publicação:COMMENT; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Proto-Oncogene Protein c-fli-1); 9007-49-2 (DNA)
[Em] Mês de entrada:1602
[Cu] Atualização por classe:151023
[Lr] Data última revisão:
151023
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:151024
[St] Status:MEDLINE
[do] DOI:10.1182/blood-2015-09-667634



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