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Search Results: 1 - 10 of 352609 matches for " 陈小萍LI Yong-quan "
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无汗性外胚层发育不良症一家系的调查研究 A Pedigree Study on Anhidrotic Ectodermal Dysplasia
李永全,潘超仁,廖霞,LI Yong-Quan,PAN Chao-Ren,LIAO Xia,CHEN Xiao-Ping
遗传 , 1996,
Abstract: 无汗性外胚层发育不良症是一种皮肤结构异常的遗传病,其临床上的主要症状表现为闭汗(汗腺缺如)、毛发稀黄和牙齿发育不全。1993年6月我们在遗传咨询门诊中发现一例男性患者,并对其家系作了调查。先证者,男,6岁。因10天前在户外中暑休克,经抢救后持续发烧就...
9号染色体臂间倒位21例分析 Analyses in 21 Cases of Pericentric Inversion of Chromosome 9
李永全,郑克勤,周汝滨,潘超仁,廖霞,LI Yong-quan,ZHENG Ke-qin,ZHOU Ru-bin,PAN Chao-ren,LIAO Xia,CHEN Xiao-ping
遗传 , 1999,
Abstract: 在2 703例遗传咨询门诊病例中检出9号染色体臂间倒位21例,将本组inv(9)的频率与普通群体inv(9)的频率作比较,并通过对伴有其它性状的inv(9)家系的分析,讨论了inv(9)的遗传效应问题。 Abstract: Twenty one cases of pericentric inversion of chromosome 9 were found in 2703 patients asking genetic counseling. The percentage of inv(9) in this group was compared with that in normal population. Two special pedigrees with inv(9) were analyzed and the genetic effects of inv(9) were discussed.
9种新的人类染色体异常核型报告 A Report of Nine New Kinds of Human Chromosomal Abnormal Karyotypes
李永全,郑克勤,周汝滨,潘超仁,廖霞,LI Yong-Quan,ZHENG Ke-Qin,ZHOU Ru-Bin,PAN Chao-Ren,LIAO Xia,CHEN Xiao-Ping
遗传 , 1999,
Abstract: 发现9种新的人类染色体异常核型,分别为: 46, XX, t(2; 10)(q33; q11); 46, XY, t(10; 12)(q26; q22); 46, XY, t(6; 15)(p23; q23); 46, XY, t(1; 6)(p36; q21); 46, XY, t(1; 19)(p32; p13); 46, XY, t(16; 18)(q22; q21); 46, XY, inv(1)(p36q25); 46, XY, t(13; 17)(q12; q25); 46, XY, t(15; 21)(q26; q11)。异常核型是导致自然流产和不育的原因。 Abstract Nine new kinds of human chromosomal abnormal karyotypes were reported. They were46, XX, t(2; 10)(q33; q11); 46, XY, t(10; 12)(q26; q22); 46, XY, t(6; 15)(p23; q23); 46, XY, t(1; 6)(p36; q21); 46, XY , t(1; 19)(p32; p13); 46, XY, t(16; 18)(q22; q21); 46, XY, inv(1)(p36q25); 46, XY, t(13; 17)(q12; q25) and 46, XY, t(15; 21)(q26; q11). The chromosomal anomalies were the causes of spontaneous abortions and infertilities.
48例原发性闭经患者的细胞遗传学分析 Cytogenetic Studies on 48 Cases with Primary Amenorrhea
郑克勤,李永全,潘超仁,周汝滨,廖霞,ZHENG Ke-Qin,LI Yong-Quan,PAN Chao-Ren,ZHOU Ru-Bin,LIAO Xia,CHEN Xiao-Ping
遗传 , 1996,
Abstract: 本文报告对48例原发闭经患者的临床和细胞遗传学分析,共发现染色体异常17例,占354%,其中包括45,X,7例;45,X/46,XX,2例;X染色体结构异常5例;核型中有Y染色体3例。讨论了原发闭经的细胞遗传学病因及异常核型与表型的关系。
135例无精症患者的细胞遗传学分析:附一例世界首报染色体异常核型 Cytogenetic Studies of 135 Cases with Azoospermia
周汝滨,李永全,潘超仁,郑克勤,廖霞,ZHOU Ru-bin,LI Yong-quan,PAN Chao-ren,ZHENG Ke-qin,LIAO Xia,CHEN Xiao-ping
遗传 , 1998,
Abstract: 本文对来我室咨询的135例无精症患者进行了细胞遗传学分析,发现异常核型38例,其中47.XXY,t(6;9)(p21;p22)为世界首报核型。本文对异常核型与无精症之间的关系进行探讨。 Abstract:Cytogenetic studies have been done on 135 cases with azoospermia,and 38 cases of abnormal karyotypes were discovered.Among which,one abnormal karyotype was the first reported in the world.It is 47,XXY,t(6;9)(p21;q22).The relationship between abnormal karyotypes and azoospermia is discussed.
Analysis on genetic defects of the patients with azoospermia and severe oligospermia---A report of 2 abnormal karyotypes of the first reported in the world
无精和严重少精症患者的遗传缺陷分析——-附2例世界首报染色体异常核型

ZHANG Xiao-Yun,LI Yong-Quan,ZHENG Ke-Qin,ZHOU Ru-Bin,CHEN Xiao-Ping,LIAO Xia,
张晓云
,李永全,郑克勤,周汝滨,,廖霞

遗传 , 2006,
Abstract: G banding karyotype analysis of peripheral lymphocytes in 217 patients with azoospermia or severe oligospermia were performed and the Y-chromosome AZFc region from seven cases with Y chromosome abnormality was amplified by polymerase chain reaction(PCR).Out of 187 cases with azoospermia,77 patients or 41.18% had chromosome abnormalities,including number and structural aberrations,heteromorphic chromosomes(Y chromosome heteromorphisms and pericentric inversion of chromosome 9) and 46,XX sex reversal.Two novel abnormal karyotypes were found: 46,XY,t(6;14)(p21;p13) and 46,XY,t(8;12)(p21;q24).Out of 30 patients with severe oligospermia,four had chromosome abnormalities,including structural aberration and 46,XX sex reversal.Therefore,aberration of the sex chromosome causes the most serious spermatogenic failure and certain breakpoints in the autosomes may also affect spermatogenesis.The deletion of AZFc also affects spermatogenesis.
Analysis of 29 Cases of Y Chromosome Abnormalities
Y染色体异常29例分析 Analysis of 29 Cases of Y Chromosome Abnormalities

Li Yongquan,Zhou Rubin,Zheng Keqin,Pan Chaoren,Liao Xia,Chen Xiaoping,
李永全
,周汝滨,郑克勤,潘超仁,廖霞,LI Yong-Quan,ZHOU Ru-Bin,ZHANG Ke-Qin,PAN Chao-Ren,LIAO Xia,CHEN Xiao-Ping

遗传 , 1996,
Abstract: Twenty nine cases of Y chromosome abnormalities were found in 1992 patients asking genetie counseling. Different kinds of Y chromosome abnormalities were detected by G and C banding techniques. These were 47, XYY(2 cases), 46, X, del(Y)(3 cases), 46, X, Yp (3 cases); 46, X, t(Y; Y)(1 case); 45, X / 46, X, die(Y)(1 casc) and length changes of Y chromosome (19 cascs). The genetie effects of Y chromosome abnormalities have been analyzed in this report.
Study on a Pedigree with 13/21 Robertsonian Chromosome Translocation Transmitted for Four Generations
遗传多代的13/21罗伯逊易位家系的调查研究 Study on a Pedigree with 13/21 Robertsonian Chromosome Translocation Transmitted for Four Generations

LI Yongquan,ZHOU Rubin,ZHENG Keqin,PAN Chaoren,LIAO Xia,CHEN Xiaoping,
李永全
,周汝滨,郑克勤,潘超仁,廖霞,LI Yong-Quan,ZHOU Ru-Bin,ZHENG Ke-Qin,PAN Chao-Ren,LIAO Xia,CHEN Xiao-Ping

遗传 , 1998,
Abstract: 一个13/21染色体罗伯逊易位家系中,易位染色体携带者4人,易位型先天愚型患者3人。易位染色体至少已经遗传了4代。该家系中有同性双生子的聚集现象。讨论了罗伯逊易位的遗传机理。
新近发现的自然流产夫妇的几种染色体异常 New Abnormalites of Chromosomes in Couples with Spontaneous Abortions
李永全,潘超仁,周汝滨,郑克勤,廖霞,,LI Yong-Quan,PAN Chao-Ren,ZHOU Ru-Bin,ZHENG Ke-Qin,LIAO Xia,CHEN Xiao-Ping,CHEN Ben
遗传 , 1995,
Abstract: 本文对218对自然流产夫妇进行了染色体分析,发现17种异常核型,其中46,XY,t(13;14)(q14;q32)、46,XX,t(11;18)(q25;q21)、46,XY,t(4;10)(q31;q11)、46,XX,t(15;21)(q24;q11)和46,XY,t(6;16)(p24;q13)为世界首报核型。作者同时报道了7例单个细胞染色体异常病例。对染色体异常与流产的关系进行了讨论。
Design of Ontology Mapping Framework
本体映射框架的设计

ZHENG Li-Ping,LI Guang-Yao,LIANG Yong-Quan,
郑丽
,李光耀,梁永全

计算机科学 , 2007,
Abstract: Ontology heterogeneity is the primary obstacle for interoperation of ontologies. Ontology mapping is the best way to solve this problem. In this paper, ontology heterogeneity and the current study situations of ontology mapping are discussed, and an ontology-mapping framework with a kind of hybrid architecture is put forward. An example of ontology mapping is given to explain the mapping framework.
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