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[PMID]:26117973
[Au] Autor:Rabiega-Gmyrek D; Olejniczak T; Niepsuj-Binias J; Guglas-Bochynska B; Jachowski P; Latos-Bielenska A; Opala T
[Ti] Título:[Chromosomal aberrations--the cause of spontaneous abortions].
[Ti] Título:Aberracje chromosomowe jako przyczyna poronien samoistnych..
[So] Source:Ginekol Pol;86(5):357-61, 2015 May.
[Is] ISSN:0017-0011
[Cp] País de publicação:Poland
[La] Idioma:pol
[Ab] Resumo:UNLABELLED: The genetic factor remains the most frequent cause of spontaneous abortions. Examination of the fetal tissue from spontaneous miscarriages shows that 75% of them were caused by abnormal karyotype. Other reasons, albeit rare, included submicroscopic genomic rearrangements, monogenic diseases, and polygenic inheritance disorders of the embryo. OBJECTIVE: The aim of the study was to analyze the incidence of chromosomal aberrations in material from the miscarriage. MATERIAL AND METHODS: The study included 47 samples of miscarriage material from 47 women. Fluorescent hybridization in-situ (FISH) was used for genetic examination. RESULTS: Chromosomal abnormalities were diagnosed in 72% of the samples, with trisomy 21 (25.5%), trisomy 16 (17%), and trisomy 18 (12.8%) as the most common. An abnormal number of copies of chromosome 18, 21, 22, indicating the coexistence of trisomy 18, 21, 22, was detected in 1 patient. It was another miscarriage in case of 14 subjects (29.8%). CONCLUSIONS: Chromosomal aberrations were diagnosed in the majority of fetal tissue samples from spontaneous miscarriages. More than one chromosomal aberration in a single embryo is an extremely rare occurrence. Miscarriage due to chromosomal aberrations occurred in the vast majority of women > 35 years of age.
[Mh] Termos MeSH primário: Aborto Espontâneo/genética
Aberrações Cromossômicas/estatística & dados numéricos
Cromossomos Humanos 13-15/genética
Cromossomos Humanos 16-18/genética
Cromossomos Humanos 21-22 e Y/genética
[Mh] Termos MeSH secundário: Adulto
Feminino
Seres Humanos
Hibridização in Situ Fluorescente
Idade Materna
Reação em Cadeia da Polimerase
Gravidez
Trissomia/genética
[Pt] Tipo de publicação:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Em] Mês de entrada:1508
[Cu] Atualização por classe:170303
[Lr] Data última revisão:
170303
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150630
[St] Status:MEDLINE


  2 / 2878 MEDLINE  
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[PMID]:26118082
[Au] Autor:Lytvynets' LIa
[Ti] Título:[CYTYOGENETIC MARKERS OF BRONCHIAL ASTHMA IN CHILDREN].
[So] Source:Lik Sprava;(7-8):51-4, 2014 Jul-Aug.
[Is] ISSN:1019-5297
[Cp] País de publicação:Ukraine
[La] Idioma:ukr
[Ab] Resumo:The learning of cytyogenetic special of cariotip in children with the bronchial asthma maked by course of the investigation of prometahyases chromosomes of limphocytes of the periferic bloods. The quantity of association of acrocentric chromosome was analised. The 82 children in age 6-18 years old with the bronchial asthma and with the different control were learned by results of asthma--test control. In children with the noncontrol bronchial asthma the big frequency of of association of acrocentric chromosome 13-15 (D-D), 21-22 (G-G) n 13-15--21-22 (D-G) were received. In patients with the bronchial asthma the lover mitotic activity by healthy were marked (P(N) < 0.05). With the degree of activity it was decreased.
[Mh] Termos MeSH primário: Asma/genética
Aberrações Cromossômicas
Cromossomos Humanos 13-15/genética
Cromossomos Humanos 21-22 e Y/genética
Linfócitos
Prometáfase/genética
[Mh] Termos MeSH secundário: Adolescente
Asma/patologia
Asma/prevenção & controle
Criança
Marcadores Genéticos
Seres Humanos
Cariótipo
Cariotipagem
Linfócitos/patologia
[Pt] Tipo de publicação:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Genetic Markers)
[Em] Mês de entrada:1508
[Cu] Atualização por classe:161018
[Lr] Data última revisão:
161018
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150630
[St] Status:MEDLINE


  3 / 2878 MEDLINE  
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[PMID]:23441923
[Au] Autor:Okten G; Gunes S; Onat OE; Tukun A; Ozcelik T; Kocak I
[Ad] Endereço:Faculty of Medicine, Department of Medical Biology, Ondokuz Mayis University, Samsun, Turkey. sgunes@omu.edu.t
[Ti] Título:Disruption of HDX gene in premature ovarian failure.
[So] Source:Syst Biol Reprod Med;59(4):218-22, 2013 Aug.
[Is] ISSN:1939-6376
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:We present a case of a 19-year-old phenotypically normal girl with premature ovarian failure. Cytogenetic analysis using G banding and fluorescence in situ hybridization (FISH) from cultured peripheral blood lymphocytes of the patient and the family revealed a de novo X;15 translocation and the imbalance to be 46,X,t(X;15)(Xpter → Xq21::15q11 → 15qter;15pter → 15q11::Xq21 → Xqter). ish (CEPX+, wep15+, ISNRPN+, PML+, D15S10+, wcp15-, SNRRN-, PML-)[20]. The X chromosome inactivation (XCI) assay revealed a completely skewed XCI pattern in which selective pressure favors an active maternal allele. The Affymetrix 2.7 M cytogenetics whole-Genome array confirmed the chromosomal imbalance and identified disruption of the HDX gene at Xq21, the translocation breakpoint.
[Mh] Termos MeSH primário: Cromossomos Humanos 13-15
Cromossomos Humanos X
Genes Homeobox/genética
Insuficiência Ovariana Primária/genética
Inativação do Cromossomo X
[Mh] Termos MeSH secundário: Adolescente
Bandeamento Cromossômico
Feminino
Seres Humanos
Hibridização in Situ Fluorescente
Translocação Genética
Adulto Jovem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1402
[Cu] Atualização por classe:130719
[Lr] Data última revisão:
130719
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:130228
[St] Status:MEDLINE
[do] DOI:10.3109/19396368.2013.769028


  4 / 2878 MEDLINE  
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[PMID]:22197129
[Au] Autor:Hanna CW; Blair JD; Stephenson MD; Robinson WP
[Ad] Endereço:Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
[Ti] Título:Absence of SYCP3 mutations in women with recurrent miscarriage with at least one trisomic miscarriage.
[So] Source:Reprod Biomed Online;24(2):251-3, 2012 Feb.
[Is] ISSN:1472-6491
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Mutations within the coding regions of the synaptonemal complex gene SYCP3 have previously been reported in women with recurrent miscarriage. The present study found no mutations in any of the coding exons or the intron/exon boundaries among 50 recurrent miscarriage patients with at least one documented trisomic miscarriage, suggesting that mutations in SYCP3 do not contribute significantly to risk for recurrent miscarriage through maternal meiotic nondisjunction.
[Mh] Termos MeSH primário: Aborto Habitual/genética
Proteínas Nucleares/genética
Complexo Sinaptonêmico/genética
Trissomia/genética
[Mh] Termos MeSH secundário: Adulto
Cromossomos Humanos 13-15
Cromossomos Humanos 21-22 e Y
Cromossomos Humanos Par 16/genética
Feminino
Seres Humanos
Mosaicismo
Não Disjunção Genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Nuclear Proteins); 0 (SYCP3 protein, human)
[Em] Mês de entrada:1205
[Cu] Atualização por classe:120206
[Lr] Data última revisão:
120206
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:111227
[St] Status:MEDLINE
[do] DOI:10.1016/j.rbmo.2011.10.013


  5 / 2878 MEDLINE  
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[PMID]:21409826
[Au] Autor:Takumi T
[Ad] Endereço:takumi@hiroshima-u.ac.jp
[Ti] Título:[A humanoid mouse model of autism and its implication in child neurology].
[So] Source:No To Hattatsu;43(2):91-4, 2011 Mar.
[Is] ISSN:0029-0831
[Cp] País de publicação:Japan
[La] Idioma:jpn
[Mh] Termos MeSH primário: Transtorno Autístico
[Mh] Termos MeSH secundário: Animais
Transtorno Autístico/genética
Criança
Cromossomos Humanos 13-15
Modelos Animais de Doenças
Seres Humanos
Camundongos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1106
[Cu] Atualização por classe:110316
[Lr] Data última revisão:
110316
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:110318
[St] Status:MEDLINE


  6 / 2878 MEDLINE  
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[PMID]:21395079
[Au] Autor:Kwinecka-Dmitriew B; Zakrzewska M; Latos-Bielenska A; Skrzypczak J
[Ad] Endereço:Klinika Rozrodczosci Uniwersytetu Medycznego w Poznaniu. kwinol69@gmail.com
[Ti] Título:[Frequency of chromosomal aberrations in material from abortions].
[Ti] Título:Czestosc wystepowania aberracji chromosomowych w materiale z poronien..
[So] Source:Ginekol Pol;81(12):896-901, 2010 Dec.
[Is] ISSN:0017-0011
[Cp] País de publicação:Poland
[La] Idioma:pol
[Ab] Resumo:UNLABELLED: Examination of fetal tissue from spontaneous miscarriages shows that 50-70% of them were caused by abnormal karyotype. The most frequent genetic abnormalities include abnormal number of chromosomes, aberration of chromosomes structure and chromosome mosaic anomalies. OBJECTIVE: The aim of the study was to find out whether there is any difference in the frequency of chromosomal aberrations in patients who miscarried for the first time comparing to patients with recurrent miscarriages. MATERIAL AND METHODS: Examination was performed on 129 miscarriage material samples from 128 women. Fluorescent hybridization in-situ (FISH) was used for genetic examination. RESULTS: We received 120 results in which 45 (37,5%) were abnormal. The most frequent chromosomal aberration was trisomy followed by triploidy and monosomy of chromosome X. Among 59 samples from first miscarriage we found 25 abnormal karyotypes. In the 61 samples from the second, third and the next miscarriages we found 20 chromosomal abnormalities. CONCLUSIONS: Frequency of chromosomal aberrations in the tissue from the first miscarriage is significantly higher than in samples from second or following miscarriages, which means that genetic factors are less likely to induce recurrent miscarriages. Genetic results confirm that most chromosomal abnormalities arise de-novo.
[Mh] Termos MeSH primário: Aborto Espontâneo/genética
Aneuploidia
Aberrações Cromossômicas/estatística & dados numéricos
Cromossomos Humanos/genética
[Mh] Termos MeSH secundário: Adulto
Córion/patologia
Cromossomos Humanos 13-15/genética
Cromossomos Humanos 16-18/genética
Cromossomos Humanos 21-22 e Y/genética
Feminino
Seres Humanos
Polônia
[Pt] Tipo de publicação:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Em] Mês de entrada:1103
[Cu] Atualização por classe:170303
[Lr] Data última revisão:
170303
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:110315
[St] Status:MEDLINE


  7 / 2878 MEDLINE  
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[PMID]:20973205
[Au] Autor:Skrzypczak J; Kwinecka-Dmitriew B; Zakrzewska M; Latos-Bielenska A
[Ad] Endereço:Klinika Rozrodczosci, UM w Poznaniu. klrozrod@gpsk.am.poznan.pl
[Ti] Título:[Do chromosomal abnormalities reappear in subsequent pregnancies and how often?].
[Ti] Título:Czy i jak czesto aberracje chromosomowe zarodków powtarzaja sie w kolejnej ciazy?.
[So] Source:Ginekol Pol;81(9):681-6, 2010 Sep.
[Is] ISSN:0017-0011
[Cp] País de publicação:Poland
[La] Idioma:pol
[Ab] Resumo:OBJECTIVE: Genetic factors are the most common causes of spontaneous abortions. 50% to 80% of first-trimester abortions reveal-chromosome abnormalities. Evidence for the recurrence of the same or another chromosome abnormality in the next pregnancy is scarce. THE AIM: The aim of our study was to estimate recurrence risk of abortus aneuploidy and to find out whether karyotyping of the abortus allows the prognose subsequent pregnancy outcomes. MATERIAL AND METHODS: Paraffin-embedded chorions have undergone cytogenetic examination using FISH with chromosome-specific probes. 57 chorions from 26 women have been assessed, including chorions from two consecutive abortions from 18 women and chorions from three consecutive abortions from 5 women. RESULTS: 38.6% of 57 specimens had chromosome aberrations. The most prevalent anomalies were 16, 21 and 18 trisomies. 23 patients had a subsequent abortion karyotyped; 15 had a normal initial karyotype and 8 had an aberrant initial karyotype. 3 out of the 8 patients had a repeated chromosome anomaly 5 out of the 15 patients who initially miscarried an aneuploid embryo, had a subsequent miscarriage of an aneuploid embryo. Only 3 (13.04%) out of the 23 patients displayed aneuploidy in each abortus. CONCLUSION: (1) Chromosome aberrations can reappear in subsequent pregnancies in the same patient and may be the cause of recurrent miscarriages. (2) The value of embryo/fetal karyotyping is not decisive in prognosis of subsequent pregnancy outcome. (3) Abnormal fetal karyotype can occur regardless of other causes of pregnancy loss.
[Mh] Termos MeSH primário: Aborto Habitual/genética
Aneuploidia
Aberrações Cromossômicas
Cromossomos Humanos 13-15/genética
Cromossomos Humanos 16-18/genética
Cromossomos Humanos 21-22 e Y/genética
[Mh] Termos MeSH secundário: Córion/patologia
Feminino
Seres Humanos
Cariotipagem
Gravidez
Aberrações dos Cromossomos Sexuais
Trissomia/genética
[Pt] Tipo de publicação:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Em] Mês de entrada:1011
[Cu] Atualização por classe:170303
[Lr] Data última revisão:
170303
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:101027
[St] Status:MEDLINE


  8 / 2878 MEDLINE  
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[PMID]:20851799
[Au] Autor:Verdeguer A
[Ad] Endereço:Pediatric Oncology and Pediatric Hematopoietic Cell, Transplantation Unit, Clinical and Translational Investigation Group La Fe, Hospital Universitario Infantil La Fe, Valencia, Spain. verdeguer_amp@gva.es
[Ti] Título:Genetic alterations in children and adolescents with acute myeloid leukaemia.
[So] Source:Clin Transl Oncol;12(9):590-6, 2010 Sep.
[Is] ISSN:1699-3055
[Cp] País de publicação:Italy
[La] Idioma:eng
[Ab] Resumo:Acute Myeloid Leukemia is a clinically and genetically heterogeneous disease, in which cytogenetic aberrations are the most important factors to determine biological behavior and prognosis. More than 20 different chromosomal abnormalities have been identified in a high percentage of children (70-85%) with the novo AML. We reviewed the most frequently found and the impact of these aberrations on prognosis. Differences according to the age of patients and mainly in relation to adult population have been enhanced, although the low incidence of AML in children and the high number of abnormalities make difficult to accurately define the prognosis significance of these aberrations.
[Mh] Termos MeSH primário: Aberrações Cromossômicas
Leucemia Mieloide Aguda/genética
Leucemia Mieloide Aguda/patologia
[Mh] Termos MeSH secundário: Adolescente
Fatores Etários
Criança
Pré-Escolar
Cromossomos Humanos 1-3
Cromossomos Humanos 13-15
Cromossomos Humanos 16-18
Cromossomos Humanos 21-22 e Y
Cromossomos Humanos 6-12 e X
Análise Citogenética
Expressão Gênica
Seres Humanos
Lactente
Cariotipagem
Leucemia Mieloide Aguda/tratamento farmacológico
Leucemia Mieloide Aguda/metabolismo
Mutação
Prognóstico
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1103
[Cu] Atualização por classe:171109
[Lr] Data última revisão:
171109
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:100921
[St] Status:MEDLINE
[do] DOI:10.1007/s12094-010-0563-z


  9 / 2878 MEDLINE  
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[PMID]:20708541
[Au] Autor:Chen CP; Chern SR; Wu CH; Tsai FJ; Wu PC; Wang W
[Ti] Título:Detection of balanced homologous acrocentric rearrangement rea(14q14q) and low-grade X-chromosome mosaicism in a couple with repeated pregnancy losses.
[So] Source:Taiwan J Obstet Gynecol;49(2):239-42, 2010 Jun.
[Is] ISSN:1875-6263
[Cp] País de publicação:China (Republic : 1949- )
[La] Idioma:eng
[Mh] Termos MeSH primário: Aborto Habitual/genética
Cromossomos Humanos X/genética
Mosaicismo
Aberrações dos Cromossomos Sexuais
Translocação Genética
[Mh] Termos MeSH secundário: Adulto
Cromossomos Humanos 13-15
Feminino
Seres Humanos
Masculino
Gravidez
[Pt] Tipo de publicação:CASE REPORTS; LETTER; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Mês de entrada:1012
[Cu] Atualização por classe:100816
[Lr] Data última revisão:
100816
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:100817
[St] Status:MEDLINE
[do] DOI:10.1016/S1028-4559(10)60054-X


  10 / 2878 MEDLINE  
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[PMID]:19860526
[Au] Autor:Ettema AM; Wenghoefer M; Hansmann M; Carels CE; Borstlap WA; Bergé SJ
[Ad] Endereço:Department of Oral and Maxillofacial Surgery, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.
[Ti] Título:Prenatal diagnosis of craniomaxillofacial malformations: a characterization of phenotypes in trisomies 13, 18, and 21 by ultrasound and pathology.
[So] Source:Cleft Palate Craniofac J;47(2):189-96, 2010 Mar.
[Is] ISSN:1545-1569
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To determine the relationship between trisomies 13, 18, and 21 and craniofacial malformations detected by prenatal sonography. DESIGN: During a 29-year period (1976 through 2004), prenatal sonographic findings of 69 fetuses with trisomy 13; 171 fetuses with trisomy 18; 302 fetuses with trisomy 21; and 17 fetuses with other trisomies were evaluated retrospectively, after fetal karyotype identification. Sonographic findings were compared with autopsy results in 209 patients (trisomy 13, n=39; trisomy 18, n=64; and trisomy 21, n=106). RESULTS: For trisomy 13, cleft deformities were detected prenatally in 65.2%, and of the 39 cases with pathological information, 76.9% were found to have a cleft deformity. Ocular and orbital abnormalities were found in 28%. Malformations of the jaws and abnormal profiles were more frequently diagnosed postnatally than prenatally. For trisomy 18, abnormal profiles (41.5%) and ear abnormalities (5.3%) were the most noticeable ultrasound markers, next to abnormalities of the neurocranium (36.8%) and cranial bone configuration (21.6%). Dysmorphisms of the eye, ear, or nose were detected more frequently in autopsy cases. For trisomy 21, ultrasound showed an aberrant shape of the skull in 14.2% of fetuses. In general, the ocular-orbital and nasal abnormalities in fetuses with trisomy 18 or 21 were more evident in pathological examination than in prenatal ultrasound imaging. CONCLUSIONS: Facial anomalies are common in the major trisomies, and their prenatal sonographic identification should be improved. The above-mentioned facial anomalies provide sufficient reason to consider performing cytogenic evaluation.
[Mh] Termos MeSH primário: Cromossomos Humanos 13-15/genética
Cromossomos Humanos 16-18/genética
Cromossomos Humanos 21-22 e Y/genética
Anormalidades Craniofaciais/diagnóstico por imagem
Anormalidades Craniofaciais/genética
Anormalidades Maxilofaciais/diagnóstico por imagem
Anormalidades Maxilofaciais/genética
Trissomia/patologia
Ultrassonografia Pré-Natal
[Mh] Termos MeSH secundário: Adulto
Amniocentese
Autopsia
Cromossomos Humanos 13-15/diagnóstico por imagem
Cromossomos Humanos 16-18/diagnóstico por imagem
Cromossomos Humanos 21-22 e Y/diagnóstico por imagem
Anormalidades Craniofaciais/patologia
Feminino
Marcadores Genéticos
Idade Gestacional
Seres Humanos
Recém-Nascido
Cariotipagem
Masculino
Idade Materna
Anormalidades Maxilofaciais/patologia
Fenótipo
Estudos Retrospectivos
Crânio/anormalidades
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Genetic Markers)
[Em] Mês de entrada:1403
[Cu] Atualização por classe:161125
[Lr] Data última revisão:
161125
[Sb] Subgrupo de revista:D; IM
[Da] Data de entrada para processamento:091029
[St] Status:MEDLINE
[do] DOI:10.1597/08-285



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