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Impact of Array Comparative Genomic Hybridization–Derived Information on Genetic Counseling Demonstrated by Prenatal Diagnosis of the TAR (Thrombocytopenia-Absent-Radius) Syndrome–Associated Microdeletion 1q21.1

机译：阵列比较基因组杂交衍生信息对遗传咨询的影响（TAR）（产前诊断为血小板减少症-缺失-半径）综合征相关的微缺失1q21.1

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期刊名称 American Journal of Human Genetics
作者
Sabine Uhrig; Dietmar Schlembach; Julie Waldispuehl-Geigl; Werner Schaffer; Jochen Geigl; Eva Klopocki; Stefan Mundlos; Michael R. Speicher;
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作者单位

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年(卷),期 2007(81),4
年度 2007
页码 866–868
总页数 6
原文格式 PDF
正文语种
中图分类遗传学;
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专利

1. Impact of Array Comparative Genomic Hybridization-Derived Information on Genetic Counseling Demonstrated by Prenatal Diagnosis of the TAR (Thrombocytopenia-Absent-Radius) Syndrome-Associated Microdeletion 1q21.1 [J] . Sabine Uhrig, Dietmar Schlembach, Julie Waldispuehl-Geigl, The American Journal of Human Genetics . 2007,第4期

机译：阵列比较基因组杂交获得的信息对遗传咨询的影响（通过产前诊断TAR（血小板减少症-Radi骨-半径）综合征相关的微缺失1q21.1）
2. Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report [J] . Irene Bottillo, Marco Castori, Carmelilia De Bernardo, BMC research notes . 2013,第1期

机译：1q21.1微缺失和RBM8A亚型等位基因复合杂合性导致的血小板减少症无radius骨（TAR）综合征胎儿的产前诊断和验尸检查：一例
3. Prenatal diagnosis of chromosome 8p23.1 microdeletion by array comparative genomic hybridization using uncultured amniocytes in a pregnancy associated with fetal partial corpus callosum agenesis and schizencephaly [J] . Chen Chih-Ping, Peng Cheng-Ran, Chang Tung-Yao, Taiwanese journal of obstetrics and gynecology . 2015,第6期

机译：在未怀孕的胎儿部分体发育不全和裂脑相关的妊娠中，使用未培养的羊细胞进行阵列比较基因组杂交，对染色体8p23.1微缺失进行产前诊断。
4. Issues in prenatal counseling and diagnosis in Turner Syndrome [C] . Melissa L. Loscalzo, Carolyn A. Bondy, Barbara Biesecke National Institute of Child Health and Human Development, National Institute of Health . 2006

机译：特纳综合征产前咨询与诊断的问题
5. Array-based comparative genomic hybridization in phylogenetics and its application for discovery of rapidly evolving genes: A critical analysis [D] . Gilbert, Luz Beatriz 2008

机译：阵列的系统源性比较基因组杂交及其在快速发展基因发现中的应用：批判性分析
6. Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report [O] . Irene Bottillo, Marco Castori, Carmelilia De Bernardo, 2013

机译：1q21.1微缺失和RBM8A亚型等位基因复合杂合性导致的血小板减少症无radius骨（TAR）综合征胎儿的产前诊断和验尸检查：一例
7. Impact of Array Comparative Genomic Hybridization–Derived Information on Genetic Counseling Demonstrated by Prenatal Diagnosis of the TAR (Thrombocytopenia-Absent-Radius) Syndrome–Associated Microdeletion 1q21.1 [O] . Uhrig Sabine, Schlembach Dietmar, Waldispuehl-Geigl Julie, 2007

机译：阵列比较基因组杂交衍生信息对遗传咨询的影响（通过产前诊断TAR（血小板减少症-半径）综合征-相关的微缺失1q21.1）

Impact of Array Comparative Genomic Hybridization–Derived Information on Genetic Counseling Demonstrated by Prenatal Diagnosis of the TAR (Thrombocytopenia-Absent-Radius) Syndrome–Associated Microdeletion 1q21.1

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