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Annales de Génétique最新文献

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Duane anomaly, congenital myopathy and severe scoliosis in sibs: new AR syndrome? 兄弟姐妹中Duane异常、先天性肌病和严重脊柱侧凸:新的AR综合征?
Annales de Génétique Pub Date : 2003-10-01 DOI: 10.1016/S0003-3995(03)00018-2
Alain Verloes , Jean-Paul Misson , Philippe Gillet , Clarisse Baumann , Micheline Spiritus , Manuel Deprez
{"title":"Duane anomaly, congenital myopathy and severe scoliosis in sibs: new AR syndrome?","authors":"Alain Verloes ,&nbsp;Jean-Paul Misson ,&nbsp;Philippe Gillet ,&nbsp;Clarisse Baumann ,&nbsp;Micheline Spiritus ,&nbsp;Manuel Deprez","doi":"10.1016/S0003-3995(03)00018-2","DOIUrl":"10.1016/S0003-3995(03)00018-2","url":null,"abstract":"<div><p>We report on two sisters who show a similar pattern of anomalies consisting of bilateral Stilling–Türk–Duane retraction syndrome (type 3), non-progressive hypotonia with delayed motor milestones but normal intelligence, severe, early onset scoliosis, and short stature. Muscular biopsy revealed numerous regenerating fibers, but no specific abnormalities among the non-regenerating fibers. This combination of anomalies has not been previously reported, and could represent a new autosomal recessive syndrome. The only differential diagnosis is Crisfield–Dretakis–Sharpe syndrome, a combination of lateral gaze palsy, ptosis, and scoliosis without hypotonia, recessively inherited.</p></div>","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":"46 4","pages":"Pages 449-452"},"PeriodicalIF":0.0,"publicationDate":"2003-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S0003-3995(03)00018-2","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24112051","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
De novo balanced translocation (2;10)(q24;q22) associated with mental retardation 新生平衡易位(2;10)(q24;q22)与智力迟钝有关
Annales de Génétique Pub Date : 2003-10-01 DOI: 10.1016/S0003-3995(03)00019-4
Cíntia Barros Santos , Giancarlo Discepoli , Francesco Pigliapoco , Raquel Boy , Márcia Mattos Gonçalves Pimentel
{"title":"De novo balanced translocation (2;10)(q24;q22) associated with mental retardation","authors":"Cíntia Barros Santos ,&nbsp;Giancarlo Discepoli ,&nbsp;Francesco Pigliapoco ,&nbsp;Raquel Boy ,&nbsp;Márcia Mattos Gonçalves Pimentel","doi":"10.1016/S0003-3995(03)00019-4","DOIUrl":"10.1016/S0003-3995(03)00019-4","url":null,"abstract":"<div><p>We report a case of a reciprocal translocation between the long arms of the 2 and 10 chromosomes observed in a 14-year-old male with mild mental impairment, compulsive and obsessive behavior. The apparently balanced translocation was characterized by fluorescence in situ hybridization and the karyotype was 46, XY, t(2;10)(q24;q22). The way by balanced chromosomal translocations can lead to a disease phenotype are reviewed and discussed.</p></div>","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":"46 4","pages":"Pages 471-473"},"PeriodicalIF":0.0,"publicationDate":"2003-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S0003-3995(03)00019-4","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24112053","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 4
Animal cytogenetics : hematological tumors 动物细胞遗传学:血液肿瘤
Annales de Génétique Pub Date : 2003-09-01 DOI: 10.1016/S0003-3995(03)00037-6
{"title":"Animal cytogenetics : hematological tumors","authors":"","doi":"10.1016/S0003-3995(03)00037-6","DOIUrl":"https://doi.org/10.1016/S0003-3995(03)00037-6","url":null,"abstract":"","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":"46 2","pages":"Pages 87-101"},"PeriodicalIF":0.0,"publicationDate":"2003-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S0003-3995(03)00037-6","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138324236","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
From chromosomes to microarrays 从染色体到微阵列
Annales de Génétique Pub Date : 2003-09-01 DOI: 10.1016/S0003-3995(03)00041-8
{"title":"From chromosomes to microarrays","authors":"","doi":"10.1016/S0003-3995(03)00041-8","DOIUrl":"https://doi.org/10.1016/S0003-3995(03)00041-8","url":null,"abstract":"","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":"46 2","pages":"Pages 345-354"},"PeriodicalIF":0.0,"publicationDate":"2003-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S0003-3995(03)00041-8","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138324514","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Imprinting and epigenetics 印迹与表观遗传学
Annales de Génétique Pub Date : 2003-09-01 DOI: 10.1016/S0003-3995(03)00053-4
{"title":"Imprinting and epigenetics","authors":"","doi":"10.1016/S0003-3995(03)00053-4","DOIUrl":"https://doi.org/10.1016/S0003-3995(03)00053-4","url":null,"abstract":"","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":"46 2","pages":"Pages 285-288"},"PeriodicalIF":0.0,"publicationDate":"2003-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S0003-3995(03)00053-4","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138308862","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Chromosomal mosaicism 染色体镶嵌性
Annales de Génétique Pub Date : 2003-09-01 DOI: 10.1016/S0003-3995(03)00045-5
{"title":"Chromosomal mosaicism","authors":"","doi":"10.1016/S0003-3995(03)00045-5","DOIUrl":"https://doi.org/10.1016/S0003-3995(03)00045-5","url":null,"abstract":"","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":"46 2","pages":"Pages 193-205"},"PeriodicalIF":0.0,"publicationDate":"2003-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S0003-3995(03)00045-5","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138308863","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 25
Index 指数
Annales de Génétique Pub Date : 2003-09-01 DOI: 10.1016/S0003-3995(03)00044-3
{"title":"Index","authors":"","doi":"10.1016/S0003-3995(03)00044-3","DOIUrl":"https://doi.org/10.1016/S0003-3995(03)00044-3","url":null,"abstract":"","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":"46 2","pages":"Pages 361-383"},"PeriodicalIF":0.0,"publicationDate":"2003-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S0003-3995(03)00044-3","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138323367","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Final program 最后的程序
Annales de Génétique Pub Date : 2003-09-01 DOI: 10.1016/S0003-3995(03)00034-0
{"title":"Final program","authors":"","doi":"10.1016/S0003-3995(03)00034-0","DOIUrl":"https://doi.org/10.1016/S0003-3995(03)00034-0","url":null,"abstract":"","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":"46 2","pages":"Pages 63-68"},"PeriodicalIF":0.0,"publicationDate":"2003-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S0003-3995(03)00034-0","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138324126","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Plant cytogenetics 植物细胞遗传学
Annales de Génétique Pub Date : 2003-09-01 DOI: 10.1016/S0003-3995(03)00049-2
{"title":"Plant cytogenetics","authors":"","doi":"10.1016/S0003-3995(03)00049-2","DOIUrl":"https://doi.org/10.1016/S0003-3995(03)00049-2","url":null,"abstract":"","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":"46 2","pages":"Pages 299-306"},"PeriodicalIF":0.0,"publicationDate":"2003-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S0003-3995(03)00049-2","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138424882","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Duplicons, centromeres, telomeres and chromosome rearrangements 双链，着丝粒，端粒和染色体重排
Annales de Génétique Pub Date : 2003-09-01 DOI: 10.1016/S0003-3995(03)00039-X
{"title":"Duplicons, centromeres, telomeres and chromosome rearrangements","authors":"","doi":"10.1016/S0003-3995(03)00039-X","DOIUrl":"https://doi.org/10.1016/S0003-3995(03)00039-X","url":null,"abstract":"","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":"46 2","pages":"Pages 331-344"},"PeriodicalIF":0.0,"publicationDate":"2003-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S0003-3995(03)00039-X","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138424883","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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