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A comment to the paper: Dermatoglyphic analysis as a diagnostic tool in wilson disease? 对论文的评论:皮纹分析作为威尔森氏病的诊断工具?
Humangenetik Pub Date : 1975-12-01 DOI: 10.1007/BF00275150
T. David, A. Ajdukiewicz
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引用次数: 0
Parakeratosis Mibelli and skin carcinoma 米贝利角化不全和皮肤癌
Humangenetik Pub Date : 1975-12-01 DOI: 10.1007/BF00285380
E. Goerttler, E. Jung
{"title":"Parakeratosis Mibelli and skin carcinoma","authors":"E. Goerttler, E. Jung","doi":"10.1007/BF00285380","DOIUrl":"https://doi.org/10.1007/BF00285380","url":null,"abstract":"","PeriodicalId":75916,"journal":{"name":"Humangenetik","volume":"26 1","pages":"291-296"},"PeriodicalIF":0.0,"publicationDate":"1975-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/BF00285380","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"51200179","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: 5
Frequency of inborn errors of metabolism, especially PKU, in some representative newborn screening centers around the world 世界上一些有代表性的新生儿筛查中心的先天性代谢异常，尤其是PKU的发生频率
Humangenetik Pub Date : 1975-12-01 DOI: 10.1007/BF00275139
Professor Dr. O. Thalhammer
{"title":"Frequency of inborn errors of metabolism, especially PKU, in some representative newborn screening centers around the world","authors":"Professor Dr. O. Thalhammer","doi":"10.1007/BF00275139","DOIUrl":"https://doi.org/10.1007/BF00275139","url":null,"abstract":"","PeriodicalId":75916,"journal":{"name":"Humangenetik","volume":"30 1","pages":"273-286"},"PeriodicalIF":0.0,"publicationDate":"1975-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/BF00275139","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"51173516","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: 16
A comment to the paper: A homozygote for a serum albumin variant of the slow type 对论文的评论:慢型血清白蛋白变异的纯合子
Humangenetik Pub Date : 1975-12-01 DOI: 10.1007/BF00284813
J. Martin, C. Ropartz
{"title":"A comment to the paper: A homozygote for a serum albumin variant of the slow type","authors":"J. Martin, C. Ropartz","doi":"10.1007/BF00284813","DOIUrl":"https://doi.org/10.1007/BF00284813","url":null,"abstract":"","PeriodicalId":75916,"journal":{"name":"Humangenetik","volume":"28 1","pages":"361"},"PeriodicalIF":0.0,"publicationDate":"1975-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/BF00284813","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"51198585","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
Y-chromatin positive cells in the smear preparations of the gonad from a XX male. XX男性性腺涂片中的y -染色质阳性细胞。
Humangenetik Pub Date : 1975-11-06 DOI: 10.1007/BF00291954
K Iinuma, T Ozeki, K Otaguro, E Higashihara, A Tanae
{"title":"Y-chromatin positive cells in the smear preparations of the gonad from a XX male.","authors":"K Iinuma,&nbsp;T Ozeki,&nbsp;K Otaguro,&nbsp;E Higashihara,&nbsp;A Tanae","doi":"10.1007/BF00291954","DOIUrl":"https://doi.org/10.1007/BF00291954","url":null,"abstract":"<p><p>An ambisexual male infant showed a normal female karyotype by the leukocyte culture technique in two different occasions. Cultured fibroblasts from the right gonad had also a 46, XX complement. They were Y-chromatin negative. To our surprise, Y-chromatin was observed in 96% of the nuclei in smears from the uncultured gonad. It is emphasized that the examination of the uncultured gonad by the quinacrine technique is mandatory in the study of \"XX males\".</p>","PeriodicalId":75916,"journal":{"name":"Humangenetik","volume":"30 2","pages":"193-6"},"PeriodicalIF":0.0,"publicationDate":"1975-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/BF00291954","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"12370791","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
Certain patterns of karyotype evolution in chronic myelogeneous leukaemia. Chromosome abnormalities in CML. 慢性骨髓性白血病核型进化的某些模式。CML中的染色体异常。
Humangenetik Pub Date : 1975-11-06 DOI: 10.1007/BF00291943
E L Prigogina, E W Fleischman
{"title":"Certain patterns of karyotype evolution in chronic myelogeneous leukaemia. Chromosome abnormalities in CML.","authors":"E L Prigogina, E W Fleischman","doi":"10.1007/BF00291943","DOIUrl":"10.1007/BF00291943","url":null,"abstract":"<p><p>The study of chromosome banding pattern of leukaemic cells in 15 patients with CML revealed t(9;22) in all cases. Similar additional chromosome abnormalities were observed in the terminal stage of the disease in 5 of 9 patients with aneuploid cell lines. The most frequent abnormalities were i(17q) and trisomy 8. The regularities of karyotype evolution in the terminal stage of CML are discussed.</p>","PeriodicalId":75916,"journal":{"name":"Humangenetik","volume":"30 2","pages":"113-9"},"PeriodicalIF":0.0,"publicationDate":"1975-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"12241207","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
A new type of inversion of a human Y chromosome. 一种新型的人类Y染色体反转。
Humangenetik Pub Date : 1975-11-06 DOI: 10.1007/BF00291940
T Sofuni, K Tanabe, J Naruto, A A Awa
{"title":"A new type of inversion of a human Y chromosome.","authors":"T Sofuni, K Tanabe, J Naruto, A A Awa","doi":"10.1007/BF00291940","DOIUrl":"10.1007/BF00291940","url":null,"abstract":"<p><p>Using chromosome banding techniques, a phenotypically normal male was found to have an abnormal banding pattern of the Y chromosome. By the constitutive heterochromatin staining method, a darkly stained band was located on the short arm and the proximal region of the long arm. The quinacrine staining method also showed a similar abnormal banding pattern: a brightly fluorescing band was seen on the short arm and the proximal region of the long arm. By the conventional Giemsa staining method, however, no specific morphological abnormality was detected in the aberrant Y. On detailed karyotype analyses no recognizable abnormality of banding patterns of any other chromosome was found aside from the abnormal Y. The abnormality was determined to be a complex inversion of the Y chromosome, which is described as 46,X,inv(Y)(pter leads to p11::q11 leads to q12::cen::q12 leads to qter).</p>","PeriodicalId":75916,"journal":{"name":"Humangenetik","volume":"30 2","pages":"91-7"},"PeriodicalIF":0.0,"publicationDate":"1975-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11275775","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
An abortus with a normal/trisomy 16 mosaicism: instability of trisomic cells in vitro. 正常/ 16三体嵌合的流产:体外三体细胞的不稳定性。
Humangenetik Pub Date : 1975-11-06 DOI: 10.1007/BF00291949
T Ikeuchi, M Sasaki
{"title":"An abortus with a normal/trisomy 16 mosaicism: instability of trisomic cells in vitro.","authors":"T Ikeuchi,&nbsp;M Sasaki","doi":"10.1007/BF00291949","DOIUrl":"https://doi.org/10.1007/BF00291949","url":null,"abstract":"<p><p>A 46,XX/47,XX,+16 mosaicism was demonstrated in cultured chorionic cells obtained from an abortion material. By tracing polymorphic fluorescent chromosome markers in the abortus and the parents, the karyotypically normal component was confirmed to be non-maternal in origin. The trisomic cells showed a growth disadvantage, and were overtaken by the normal cells in prolonged cultivation.</p>","PeriodicalId":75916,"journal":{"name":"Humangenetik","volume":"30 2","pages":"167-71"},"PeriodicalIF":0.0,"publicationDate":"1975-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/BF00291949","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"12370788","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: 2
Hexokinase isozymes in human neoplastic and fetal tissues: the existence of hexokinase II in malignant tumors and in placenta. 人肿瘤和胎儿组织中的己糖激酶同工酶:恶性肿瘤和胎盘中己糖激酶II的存在。
Humangenetik Pub Date : 1975-11-06 DOI: 10.1007/BF00291952
R Kamel, F Schwarzfischer
{"title":"Hexokinase isozymes in human neoplastic and fetal tissues: the existence of hexokinase II in malignant tumors and in placenta.","authors":"R Kamel,&nbsp;F Schwarzfischer","doi":"10.1007/BF00291952","DOIUrl":"https://doi.org/10.1007/BF00291952","url":null,"abstract":"<p><p>The distribution of electrophoretic fractions of hexokinase (HK E.C. 2.7.1.1) in extracts of 53 human primary tumors, homologous normal tissues and fetal organs was investigated. It was found that the fraction HK II is present in every malignant tumor and in placenta tissue.</p>","PeriodicalId":75916,"journal":{"name":"Humangenetik","volume":"30 2","pages":"181-5"},"PeriodicalIF":0.0,"publicationDate":"1975-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/BF00291952","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"12370789","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
Late DNA replicaion of X chromosomes in female and pseudofemale cells of Microtus agrestis. 田鼠雌性和假雌性细胞中X染色体的后期DNA复制。
Humangenetik Pub Date : 1975-11-06 DOI: 10.1007/BF00291950
F Pera, P Scholz
{"title":"Late DNA replicaion of X chromosomes in female and pseudofemale cells of Microtus agrestis.","authors":"F Pera,&nbsp;P Scholz","doi":"10.1007/BF00291950","DOIUrl":"https://doi.org/10.1007/BF00291950","url":null,"abstract":"<p><p>The late replication pattern of the short arms of the X chromosomes of Microtus agrestis was studied in female cells and in cells with 2 X chromosomes of male origin by means of the BUdR-Giemsa technique and of 3H-thymidine labelling. The light absorption of Giemsa stained chromosome sections which were unifilarly substituted with BUdR (labelled), was found to be 59.2% of that of unlabelled chromosomes. In female cells, asynchrony of DNA replication of both X chromosomes indicated the presence of facultative heterochromatin in the X2 and euchromatin in the X1. In the male cells only euchromatic X chromosomes were observed in diploid XX and XO cells as well as in triploid XXY, XX and XO cells. The results show that inactivation of an X chromosone in vitro, in cells with more than one originally active X chromosome does not occur even after a culture duration of several years.</p>","PeriodicalId":75916,"journal":{"name":"Humangenetik","volume":"30 2","pages":"173-7"},"PeriodicalIF":0.0,"publicationDate":"1975-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/BF00291950","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11275772","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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