2011 William Allan Award introduction: John M. Opitz.
2011 William Allan Award introduction: John M. Opitz.
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2011年威廉·艾伦奖简介：约翰·M·奥皮茨。
DOI：
10.1016/j.ajhg.2012.01.011
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发表时间：
2012
影响因子：
9.8
通讯作者：
Muenke,Maximilian
中科院分区：
文献类型：
--
作者：
Muenke,Maximilian
作为美国人类遗传学会颁奖委员会的成员，我很荣幸、非常荣幸并高兴地向您介绍 2011 年威廉·艾伦奖的获得者：约翰·M·奥皮茨 (John M. Opitz) 博士。 Opitz 博士无疑是医学遗传学领域的先驱。 2012 年将迎来他在这一领域工作 50 周年，他已在同行评审期刊上发表了 500 多篇出版物。奥皮茨博士是一位罕见的学者和通晓多种语言的人，除了母语德语外，他还会说多种语言。他利用这些知识阅读原始语言的文本，并将相关参考文献和想法纳入他关于胚胎学、胎儿病理学、发育生物学和医学遗传学的著作中。奥皮茨博士最出名的可能是与患者及其家人合作，观察和描述许多现在经典的遗传综合症。他很可能是唯一一位描述了最新颖的综合症的遗传学家。为了向患者致敬，而不是引起临床医生的注意，Opitz 博士以受影响家庭的名字首字母来命名这些综合征，例如 G 综合征、1 BBB 综合征、2 FG 综合征、3 C 综合征、4KBG 综合征、5 等等。然而，其中一些现在以他的名字命名，如 Smith-Lemli-Opitz 综合征 6 和 Opitz 综合征（GBBB 综合征）。 Opitz 博士不仅描述了 20 世纪 60 年代、70 年代和 80 年代的新综合征，而且还帮助理解了正常和异常胚胎发育背景下的一系列发现。 Opitz 博士重新发现了人类发育场缺陷的概念，7, 8 德国诺贝尔奖获得者 Hans Spemann 此前曾在两栖动物中描述过这一概念。在过去的二十年里，奥皮茨博士一直积极参与他之前描述的各种综合症的潜在遗传基础的鉴定。 9-11 最近描述了其中两种综合征的疾病相关基因，即 Bohring-Opitz 综合征 (ASXL1) 12 和 KBG 综合征 (ANKRD11) 13。
As a member of the awards committee of the American Society of Human Genetics, it is my privilege, great honor, and pleasure to introduce to you the winner of the 2011 William Allan Award: Dr. John M. Opitz. Dr. Opitz is unarguably a pioneer in the field of medical genetics. The year 2012 will mark 50 years of working in this field to which he has contributed over 500 publications in peer-reviewed journals. Dr. Opitz is a rare scholar and polyglot who speaks several languages in addition to his native German. He has used this knowledge to read texts in their original language and include pertinent references and ideas into his writings on embryology, fetal pathology, developmental biology, and medical genetics. Dr. Opitz is probably best known for working with patients and their families in order to observe and delineate many of the now classical genetic syndromes. He very well might be the single one geneticist who has described the most novel syndromes. In order to honor the patients rather than to call attention to the identifying clinician, Dr. Opitz named these syndromes after the first initials of the families that they affected, such as G syndrome, 1 BBB syndrome, 2 FG syndrome, 3 C syndrome, 4KBG syndrome, 5 and many others. However, some of them now bear his name as in Smith-Lemli-Opitz syndrome 6 and Opitz syndrome (for GBBB syndrome). Not only did Dr. Opitz delineate novel syndromes in the 1960s, 70s, and 80s, but he also helped to understand the constellation of findings in the context of normal and abnormal embryological development. It was Dr. Opitz who rediscovered the concept of developmental field defect in humans, 7, 8 a concept that was previously described in amphibians by the German Nobel Laureate Hans Spemann. Over the past two decades, Dr. Opitz has been actively involved in the identification of the underlying genetic bases of the various syndromes that he had previously described. 9–11 The disease-associated genes of two of these syndromes, Bohring-Opitz syndrome (ASXL1) 12 and KBG syndrome (ANKRD11), 13 were recently described.
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影响因子：
9.8
作者：
Sirmaci, Asli;Spiliopoulos, Michail;Tekin, Mustafa
通讯作者：
Tekin, Mustafa
发展领域的概念。
DOI：
10.1002/ajmg.1320210102
发表时间：
1985
期刊：
American journal of medical genetics
影响因子：
--
作者：
J. M. Opitz;J. Reynolds
通讯作者：
J. Reynolds
前脑无裂畸形遗传异质性的临床、细胞遗传学和分子方法。
DOI：
--
发表时间：
1989
期刊：
American journal of medical genetics
影响因子：
--
作者：
Maximilian Münke
通讯作者：
Maximilian Münke
前脑无裂畸形：与 2p 间质性缺失相关以及细胞遗传学文献回顾。
DOI：
10.1002/ajmg.1320300409
发表时间：
1988
期刊：
American journal of medical genetics
影响因子：
--
作者：
Maximilian Münke;Maximilian Münke;Beverly S. Emanuel;E. Zackai
通讯作者：
E. Zackai
DOI：
10.1007/bf00439020
发表时间：
1974-01-01
期刊：
ZEITSCHRIFT FUR KINDERHEILKUNDE
影响因子：
--
作者：
OPITZ, JM;KAVEGGIA, EG
通讯作者：
KAVEGGIA, EG