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1. 发明申请

US20110150775A1 GENOMIC APPROACHES TO FETAL TREATMENT AND DIAGNOSIS 审中-公开
标题翻译：基因治疗和诊断方法
公开(公告)号：US20110150775A1
公开(公告)日：2011-06-23
申请号：US12993881
申请日：2009-06-01
申请人： Donna Slonim , Kirby Johnson , Diana Bianchi
发明人： Donna Slonim , Kirby Johnson , Diana Bianchi
IPC分类号： A61K49/00 , C40B30/02 , A61K31/56 , A61K31/137 , A61K31/44 , A61K33/34 , A61K31/19 , A61K31/5415 , A61K31/395 , A61K31/60 , A61K31/4355 , A61K31/196 , A61K31/52 , A61K31/405 , A61K31/352 , A61K31/337 , A61K31/047 , A61K31/55 , A61K31/54 , A61K31/517 , A61K31/167 , A61K31/706 , A61K31/415 , A61K31/566 , A61K31/4164 , A61K31/195 , A61K31/197 , A61K31/201 , A61K31/407 , C12Q1/68 , A61P43/00
CPC分类号： C12Q1/6886 , C12Q1/6837 , C12Q2600/136 , C12Q2600/156 , C12Q2600/158
摘要： The present invention provides systems for developing and/or testing therapies for prenatal diseases and conditions including Down Syndrome. The present invention also provides diagnostic methods for Down Syndrome involving, in some embodiments, gene expression analyses of fetal RNA and/or detection of expression of particular genes involved in Down Syndrome. Also provided are microarrays and kits useful in prenatal diagnostic applications.
摘要翻译：本发明提供用于开发和/或测试产前疾病和包括唐氏综合征的病症的系统。本发明还提供了唐氏综合症的诊断方法，在一些实施方案中涉及胎儿RNA的基因表达分析和/或检测涉及唐氏综合征的特定基因的表达。还提供了可用于产前诊断应用的微阵列和试剂盒。

2. 发明申请

US20110118125A1 NEONATAL SALIVARY GENOMICS 审中-公开
标题翻译：新生唾液基因组学
公开(公告)号：US20110118125A1
公开(公告)日：2011-05-19
申请号：US12990855
申请日：2009-05-01
申请人： Jill Maron , Diana Bianchi , Kirby Johnson , Donna Slonim
发明人： Jill Maron , Diana Bianchi , Kirby Johnson , Donna Slonim
IPC分类号： C40B20/04 , C12Q1/68
CPC分类号： C12Q1/6883 , C12Q2600/158
摘要： The present invention provides systems for assessing neonatal development and/or conditions by analyzing neonatal saliva RNA. Methods of identifying genes involved in neonatal development and/or conditions affecting neonates, are provided. Methods of determining a diagnosis of a neonate comprising detection of one or more differentially expressed genes are also provided.
摘要翻译：本发明提供了通过分析新生儿唾液RNA来评估新生儿发育和/或病症的系统。提供了鉴定涉及新生儿发育和/或影响新生儿的病症的基因的方法。还提供了确定包括检测一种或多种差异表达基因的新生儿的诊断的方法。

3. 发明申请

US20070212689A1 Prenatal Diagnosis Using Cell-Free Fetal DNA in Amniotic Fluid 审中-公开
标题翻译：在羊水中使用无细胞胎儿DNA进行产前诊断
公开(公告)号：US20070212689A1
公开(公告)日：2007-09-13
申请号：US10577341
申请日：2004-10-29
申请人： Diana Bianchi , Paige Larrabee , Kirby Johnson
发明人： Diana Bianchi , Paige Larrabee , Kirby Johnson
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6806 , C12Q1/6883 , C12Q2600/156 , G01N21/6428 , C12Q2565/501 , C12Q2523/32
摘要： The present invention relates to improved methods of prenatal diagnosis, screening, monitoring and/or testing. The inventive methods include the analysis by array-based hybridization of cell-free fetal DNA isolated from amniotic fluid. In addition to allowing the prenatal diagnosis of a variety of diseases and conditions, and the assessment of fetal characteristics such as fetal sex and chromosomal abnormalities, the new inventive methods provide substantially more information about the fetal genome in less time than it takes to perform a conventional metaphase karyotype analysis. In particular, the enhanced molecular karyotype methods provided by the present invention allow the detection of chromosomal aberrations that are not often detected prenatally such as microdeletions, microduplications and subtelomeric rearrangements.
摘要翻译：本发明涉及产前诊断，筛选，监测和/或测试的改进方法。本发明的方法包括通过从羊水分离的无细胞胎儿DNA的阵列杂交进行分析。除了允许产前诊断各种疾病和状况以及胎儿特性如胎儿性别和染色体异常的评估之外，新的发明方法提供了比进行胎儿基因组所需时间更少的关于胎儿基因组的更多信息常规中期核型分析。特别地，由本发明提供的增强的分子核型方法允许检测不常检测到的染色体异常，例如微缺失，微复制和亚端粒重排。

4. 发明申请

US20070111233A1 Prenatal diagnosis using cell-free fetal DNA in amniotic fluid 审中-公开
标题翻译：产前诊断在羊水中使用无细胞胎儿DNA
公开(公告)号：US20070111233A1
公开(公告)日：2007-05-17
申请号：US11514096
申请日：2006-08-31
申请人： Diana Bianchi , Kirby Johnson , Olav Lapaire
发明人： Diana Bianchi , Kirby Johnson , Olav Lapaire
IPC分类号： C12Q1/68 , C07H21/04 , C12N1/08
CPC分类号： C12N15/1006
摘要： The present invention relates to improved methods of prenatal diagnosis, screening, monitoring and/or testing. The inventive methods include the analysis by array-based hybridization of cell-free fetal DNA isolated from amniotic fluid. In addition to allowing the prenatal diagnosis of a variety of diseases and conditions, and the assessment of fetal characteristics such as fetal sex and chromosomal abnormalities, the new inventive methods provide substantially more information about the fetal genome in less time than it takes to perform a conventional metaphase karyotype analysis. In particular, the enhanced molecular karyotype methods provided by the present invention allow the detection of chromosomal aberrations that are not often detected prenatally such as microdeletions, microduplications and subtelomeric rearrangements. Also provided are improved methods of extraction of fetal DNA from amniotic fluid.
摘要翻译：本发明涉及产前诊断，筛选，监测和/或测试的改进方法。本发明的方法包括通过从羊水分离的无细胞胎儿DNA的阵列杂交进行分析。除了允许产前诊断各种疾病和状况，以及胎儿特性如胎儿性别和染色体异常的评估之外，新的发明方法提供了更多关于胎儿基因组的信息，其时间要比执行胎儿常规中期核型分析。特别地，由本发明提供的增强的分子核型方法允许检测不常检测到的染色体异常，例如微缺失，微复制和亚端粒重排。还提供了从羊水中提取胎儿DNA的改进方法。

5. 发明申请

US20070122823A1 Amniotic fluid cell-free fetal DNA fragment size pattern for prenatal diagnosis 审中-公开
标题翻译：羊水细胞无胎儿DNA片段大小模式进行产前诊断
公开(公告)号：US20070122823A1
公开(公告)日：2007-05-31
申请号：US11513797
申请日：2006-08-31
申请人： Diana Bianchi , Kirby Johnson , Olav Lapaire
发明人： Diana Bianchi , Kirby Johnson , Olav Lapaire
IPC分类号： C12Q1/68 , G06F19/00
CPC分类号： C12Q1/6883 , C12Q2565/125 , C12Q2600/156
摘要： The present invention relates to improved methods of prenatal diagnosis, screening, monitoring and/or testing. The inventive methods include analysis of the fragment size distribution of cell-free fetal DNA isolated from amniotic fluid. The inventive methods allow for rapid screening of fetal characteristics such as chromosomal abnormalities and for prenatal diagnosis of a variety of diseases and conditions. Since the new methods do not require cell culture, they can be performed more rapidly than conventional fetal karyotypes.
摘要翻译：本发明涉及产前诊断，筛选，监测和/或测试的改进方法。本发明的方法包括分析从羊水中分离的无细胞胎儿DNA的片段大小分布。本发明的方法允许快速筛选胎儿特征如染色体异常和用于各种疾病和病症的产前诊断。由于新方法不需要细胞培养，它们可以比常规胎儿核型更快地进行。

6. 发明申请

US20060003342A1 Fetal RNA in amniotic fluid to determine gene expression in the developing fetus 审中-公开
标题翻译：羊水中的胎儿RNA以确定发育中的胎儿中的基因表达
公开(公告)号：US20060003342A1
公开(公告)日：2006-01-05
申请号：US11036815
申请日：2005-01-14
申请人： Diana Bianchi , Paige Larrabee , Kirby Johnson
发明人： Diana Bianchi , Paige Larrabee , Kirby Johnson
IPC分类号： C12Q1/68 , C07H21/02
CPC分类号： C12Q1/6881 , C12Q2600/158
摘要： The present invention provides improved methods of prenatal diagnosis, monitoring, screening and/or testing. The invention is based, at least in part, on the discovery that amniotic fluid is a rich source of cell-free fetal RNA. Methods of isolation and analysis of fetal RNA are described, that can lead to information about fetal gene expression that is not available by other techniques. The inventive systems allow for a more comprehensive determination of a living human fetus' health, growth and development and for the prenatal diagnosis of a variety of diseases and conditions.
摘要翻译：本发明提供了产前诊断，监测，筛选和/或测试的改进方法。本发明至少部分地基于羊水是无细胞胎儿RNA的丰富来源的发现。描述了分离和分析胎儿RNA的方法，其可以导致关于胎儿基因表达的信息，其不能用于其它技术。本发明的系统允许更全面地确定活的人类胎儿的健康，生长和发育以及各种疾病和病症的产前诊断。

7. 发明授权

US5528834A Fixed-blade knife for rugged service and its manufacture 失效
标题翻译：固定刀用于坚固的服务及其制造
公开(公告)号：US5528834A
公开(公告)日：1996-06-25
申请号：US180915
申请日：1994-01-12
申请人： Brett P. Seber , Roy L. Helton, Jr. , Randolph J. Morton , John Craddock , Kirby Johnson
发明人： Brett P. Seber , Roy L. Helton, Jr. , Randolph J. Morton , John Craddock , Kirby Johnson
IPC分类号： B25G1/10 , B26B3/06 , B26B3/00
CPC分类号： B26B3/06 , B25G1/102
摘要： A knife has a fixed blade, a plastic base fixed to the tang of the blade, and a rugged rubber grip fixed to the plastic base. A visible portion of the plastic base extends along a back of the knife and also forms a hilt and forwardly swept guard. A visible portion of the rubber forms a grip along the bottom and sides of the handle, and also a thumb rest along the top of the handle at the guard. The handle is formed by injection molding the plastic to the tang of the blade, and thereafter injection molding the rubber to the plastic. The plastic base has features thereon for ensuring that the rubber is strongly fixed to the plastic. The base and the grip are made of strong, tough, damage-resistant materials.
摘要翻译：刀具有固定刀片，固定在刀片的柄脚上的塑料底座以及固定在塑料底座上的坚固的橡胶手柄。塑料底座的可见部分沿着刀的后部延伸，并且还形成有柄和向前扫掠的护罩。橡胶的可见部分沿着手柄的底部和侧面形成抓握，并且还在手柄的顶部处在护罩上。手柄通过将塑料注塑成叶片的柄部而形成，然后将橡胶注塑成型。塑料基座具有其上的特征，用于确保橡胶牢固地固定在塑料上。基座和把手由坚固，坚韧，耐损伤的材料制成。

8. 发明授权

US6046165A Compositions and methods for identifying and testing TGF-.beta. pathway agonists and antagonists 失效
标题翻译：用于鉴定和测试TGF-β途径激动剂和拮抗剂的组合物和方法
公开(公告)号：US6046165A
公开(公告)日：2000-04-04
申请号：US880729
申请日：1997-06-23
申请人： Allen Laughon , Kirby Johnson , Jaeseob Kim
发明人： Allen Laughon , Kirby Johnson , Jaeseob Kim
IPC分类号： C07K14/47 , C12Q1/68 , A61K37/00 , A01N43/04 , A61K31/70 , C07K14/00
CPC分类号： C12Q1/6876 , C07K14/4703
摘要： The invention provides compositions and methods of identifying and testing TGF-.beta. pathway agonists and antagonists, and in particular compositions comprising Mothers against DPP (MAD) proteins and related Smad polypeptides which exhibit sequence-specific DNA-binding activity. The invention also provides a novel DNA sequence (SEQ ID NO:19); (SEQ ID NO:20); (SEQ ID NO:21) that is bound with high affinity by Drosophila MAD protein. This protein is useful for identifying compounds that will enhance or interfere with MAD protein-DNA binding.
摘要翻译：本发明提供鉴定和测试TGF-β途径激动剂和拮抗剂的组合物和方法，特别是包含抗DPP（MAD）蛋白的母体和显示出序列特异性DNA结合活性的相关Smad多肽的组合物和方法。本发明还提供了新的DNA序列（SEQ ID NO：19）; （SEQ ID NO：20）; （SEQ ID NO：21），其通过果蝇MAD蛋白以高亲和力结合。该蛋白质可用于鉴定将增强或干扰MAD蛋白-DNA结合的化合物。

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