中文簡介

美國醫學遺傳學雜志- A部分(AJMG)為您提供了遺傳疾病和出生缺陷的所有生物學和醫學方面的連續報道，以及在當前的基因型/表型相關性背景下的表型分析的深入文檔。除了A部分，AJMG還發布了另外兩個部分:第二部分:神經精神病學遺傳學，包括神經和精神疾病的遺傳機制的實驗和臨床研究。第三部分:醫學遺傳學研討會，AJMG讀者感興趣的專題評論的客座編輯合集。作為醫生、醫學遺傳學家和相關專業人士的重要資源，該雜志的主要目的是報告以下領域的原始研究:生化遺傳學:新生兒篩查、載體檢測、代謝異常及畸形綜合征;癌癥遺傳學和癌癥細胞遺傳學:實驗和分子方法;臨床遺傳學:對新證候的描述，對已知證候的新的因果和致病見解，遺傳咨詢、nosology、人體測量學和人類學(包括皮紋學)方面的進展;臨床分子遺傳學:連鎖、定位和基因測序;形式遺傳學:數量遺傳學、人口遺傳學和流行病學遺傳學;分子細胞遺傳學:染色體畸變綜合征的描述神經精神病學遺傳學:關于精神病學和神經系統疾病遺傳機制的新研究報告;生殖遺傳學:產前診斷和遺傳學的產前和圍產期死亡的人。AJMG還報道了人類遺傳疾病的動物模型、倫理、法律和社會問題、胎兒遺傳病理學和畸形學、遺傳漂移、醫學遺傳學的歷史方面以及對雙胞胎和孿生兒的研究。該雜志通過強調對表型和自然歷史條件的詳細記錄，著重于圍繞仔細的表型分析的主題。除了研究文章，雜志的常規特征還包括臨床報告、社論、快速出版物和給編輯的信件。

　　英文簡介

The American Journal of Medical Genetics - Part A (AJMG) gives you continuous coverage of all biological and medical aspects of genetic disorders and birth defects, as well as in-depth documentation of phenotype analysis within the current context of genotype/phenotype correlations. In addition to Part A , AJMG also publishes two other parts:Part B: Neuropsychiatric Genetics , covering experimental and clinical investigations of the genetic mechanisms underlying neurologic and psychiatric disorders.Part C: Seminars in Medical Genetics , guest-edited collections of thematic reviews of topical interest to the readership of AJMG .As a crucial resource to physicians, medical geneticists and associated professionals, the Journal's primary purpose is to report original research in the following areas:Biochemical Genetics : newborn screening, carrier detection, and the metabolic dysplasia and malformation syndromes;Cancer Genetics and Cancer Cytogenetics : experimental and molecular approaches;Clinical Genetics : descriptions of new syndromes, new causal and pathogenetic insights into known syndromes, advances in genetic counseling, nosology, anthropometry, and anthropology, including dermatoglyphics;Clinical Molecular Genetics : linkage, mapping, and gene sequencing;Formal Genetics : quantitative, population, and epidemiological genetics;Molecular Cytogenetics : delineation of syndromes due to chromosomal aberration;Neuropsychiatric Genetics : reports on novel research on the genetic mechanisms underlying psychiatric and neurological disorders;Reproductive Genetics : prenatal diagnosis and the genetics of prenatal and perinatal death in humans.AJMG also reports on animal models of human genetic disorders, ethical, legal and social issues, fetal genetic pathology and teratology, genetic drift, historical aspects of medical genetics, and studies of twins and twinning. The Journal focuses on the themes surrounding careful phenotype analysis by emphasizing meticulous documentation of phenotype and natural history of conditions. In addition to research articles, regular features of the Journal include clinical reports, editorials, rapid publications, and letters to the editor.

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