American Journal of Medical Genetics最新文献_第3页

Molecular cytogenetic aspects of hematological malignancies: clinical implications. 血液恶性肿瘤的分子细胞遗传学方面:临床意义。

American Journal of Medical Genetics Pub Date : 2002-10-30 DOI: 10.1002/ajmg.10689

Zhong Chen, Avery A Sandberg

引用次数: 51

Cytogenetics and molecular genetics of ovarian cancer. 卵巢癌的细胞遗传学和分子遗传学。

American Journal of Medical Genetics Pub Date : 2002-10-30 DOI: 10.1002/ajmg.10695

Nancy Wang

引用次数: 20

Hereditary chronic lymphocytic leukemia: an extended family study and literature review. 遗传性慢性淋巴细胞白血病:一项大家庭研究及文献回顾。

American Journal of Medical Genetics Pub Date : 2002-10-30 DOI: 10.1002/ajmg.10686

Henry T Lynch, Dennis D Weisenburger, Brigid Quinn-Laquer, Patrice Watson, Jane F Lynch, Warren G Sanger

{"title":"Hereditary chronic lymphocytic leukemia: an extended family study and literature review.","authors":"Henry T Lynch, Dennis D Weisenburger, Brigid Quinn-Laquer, Patrice Watson, Jane F Lynch, Warren G Sanger","doi":"10.1002/ajmg.10686","DOIUrl":"https://doi.org/10.1002/ajmg.10686","url":null,"abstract":"Leukemia is manifested in about 1-2% of people in Western industrialized nations. The most common form of leukemia is B-cell chronic lymphocytic leukemia (B-CLL), which accounts for approximately 30% of all cases. While CLL's etiology remains elusive, there is increasing evidence that substantially supports the role of hereditary factors in a subset of cases of this disease. Our purpose is to describe an extremely well documented CLL family wherein the disease has been verified in a father and his four sons; two of the sons are identical twins. The family history, including available medical records and pathology reports, was gathered and reviewed. Peripheral blood lymphocytes were used for cytogenetic and fluorescence in situ hybridization analyses. The family reported herein shows classic findings in support of an autosomal dominant mode of genetic transmission of CLL. Given the explosive developments in molecular genetics during the past decade, it is certain that families of this type will provide important clues to the etiology, pathogenesis, and ultimate prevention of CLL.","PeriodicalId":7708,"journal":{"name":"American Journal of Medical Genetics","volume":"115 3","pages":"113-7"},"PeriodicalIF":0.0,"publicationDate":"2002-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/ajmg.10686","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"22089817","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: 17

Chromosome and gene alterations in breast cancer as markers for diagnosis and prognosis as well as pathogenetic targets for therapy. 乳腺癌的染色体和基因改变作为诊断和预后的标志以及治疗的致病靶点。

American Journal of Medical Genetics Pub Date : 2002-10-30 DOI: 10.1002/ajmg.10696

Nicholas C Popescu, Drazen B Zimonjic

{"title":"Chromosome and gene alterations in breast cancer as markers for diagnosis and prognosis as well as pathogenetic targets for therapy.","authors":"Nicholas C Popescu, Drazen B Zimonjic","doi":"10.1002/ajmg.10696","DOIUrl":"https://doi.org/10.1002/ajmg.10696","url":null,"abstract":"Chromosomal abnormalities have been implicated in cancer development since the turn of the last century. Only during the past two decades, with advances in cytogenetics and molecular biology, has the genetic basis of neoplasia been firmly established, however, with chromosomal alterations being recognized as critical in the pathogenesis of human cancer. Recurrent chromosomal alterations provide cytological and molecular markers for the diagnosis and prognosis of disease. They also facilitate the identification of genes that are important in carcinogenesis and, ultimately, may lead to the development of targeted therapy. In breast cancer, the most prevalent malignancy among females, substantial progress has been achieved in identifying genes located at sites of recurrent chromosomal alterations and in profiling gene expression through the application of powerful cytogenetic and functional genomic techniques. Characterization of the molecular pathologic characteristics and gene-expression profiles of breast cancer should provide new clinical tools for the accurate diagnosis and prediction of prognosis as well as new targets for the development of therapeutic agents.","PeriodicalId":7708,"journal":{"name":"American Journal of Medical Genetics","volume":"115 3","pages":"142-9"},"PeriodicalIF":0.0,"publicationDate":"2002-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/ajmg.10696","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"22089821","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: 27

Cytogenetics and molecular genetics of human cancer. 人类癌症的细胞遗传学和分子遗传学。

American Journal of Medical Genetics Pub Date : 2002-10-30 DOI: 10.1002/ajmg.10685

Avery A Sandberg, Zhong Chen

引用次数: 8

Chromosome breakage syndromes and cancer. 染色体断裂综合征和癌症。

American Journal of Medical Genetics Pub Date : 2002-10-30 DOI: 10.1002/ajmg.10688

Nahum J Duker

{"title":"Chromosome breakage syndromes and cancer.","authors":"Nahum J Duker","doi":"10.1002/ajmg.10688","DOIUrl":"https://doi.org/10.1002/ajmg.10688","url":null,"abstract":"There exist numerous genetic disorders, marked by chromosome instability, that are strikingly associated with various cancers. Both the chromosomal instabilities and neoplastic outcomes are related to abnormalities of DNA metabolism, DNA repair, cell-cycle governance, or control of apoptosis. Among these diseases are ataxia telangectasia and Nijmegen breakage syndrome, with increased incidences of lymphomas. Bloom syndrome, Werner syndrome, and Rothmund-Thompson syndrome, each characterized by a DNA helicase defect, are associated with early incidences of different cancers. Other diseases combining the phenotype of chromosomal instabilities and neoplastic development are Fanconi anemia and breast cancers associated with mutant BRCA1 and BRCA2 genes. The cloning of the encoding genes and the characterization of their products have resulted in partial understanding of the pathways of cellular DNA surveillance and maintenance of genomic rectitude. The exact pathways fully linking the genetic defect mechanisms to the eventual development of various neoplasias remain to be elucidated, but progress in defining the molecular genetics of these entities suggests that many of them are disorders of DNA recombination. Each defect involves a separate protein in these complex pathways.","PeriodicalId":7708,"journal":{"name":"American Journal of Medical Genetics","volume":"115 3","pages":"125-9"},"PeriodicalIF":0.0,"publicationDate":"2002-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/ajmg.10688","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"22089819","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: 67

Methodologies in cancer cytogenetics and molecular cytogenetics. 癌症细胞遗传学和分子细胞遗传学的方法论。

American Journal of Medical Genetics Pub Date : 2002-10-30 DOI: 10.1002/ajmg.10687

Nancy Wang

引用次数: 31

Cytogenetics and molecular genetics of cancer of the prostate. 前列腺癌的细胞遗传学和分子遗传学。

American Journal of Medical Genetics Pub Date : 2002-10-30 DOI: 10.1002/ajmg.10694

Arthur R Brothman

引用次数: 33

Abstracts for the Xth World Congress of Psychiatric Genetics. Brussels, Belgium, 9-13 October 2002. 第x届世界精神遗传学大会摘要。2002年10月9日至13日，比利时布鲁塞尔。

American Journal of Medical Genetics Pub Date : 2002-10-08

引用次数: 0

Report of 46,XX/46,XY/47,XXY/48,XXYY mosaicism in an adult phenotypic male. 成年表型男性46、XX/46、XY/47、XXY/48、XXYY嵌合现象报告。

American Journal of Medical Genetics Pub Date : 2002-08-01 DOI: 10.1002/ajmg.10561

Lurdes Zamora, Blanca Espinet, Marta Salido, Francesc Solé, Cristina Ligorria, Lourdes Florensa

引用次数: 8