|
|
|
题名
|
作者
|
年代
|
出处
|
被引量
|
| 1 | Identification of the second CFTR mutation in patients with congenital bilateral absence of vas deferens undergoing ART protocols显示文摘管 deferens (CBAVD ) 的先天的双边的缺席是膀胱的纤维变性(CF ) 的最轻微的形式的表明并且被妨碍的精子缺乏在不那样健康的病人描绘。由于帮助繁殖技术的可获得性, CBAVD 病人能生孩子。这些父亲在播送 CF transmembrane 传导力管理者(CFTR ) 的变异的等位基因的风险基因,为 CF 负责,到他们的后代。在在 CBAVD 病人的两 CFTR 等位基因的变化的鉴定是为如果女搭挡是一个健康 CF 搬运人,计算与全面 CF 生产一个孩子的风险的一个关键要求。在 CBAVD 病人的多数,然而,常规变化屏蔽不能在两 CFTR 等位基因检测变化,并且这个困难妨碍正确基因 counselling 的实行。为了关于大多数获得信息,在 CBAVD 病人代表了 CFTR 变化,我们分析了 23 个 CBAVD 病人,其中 15 个在为 36 个变化和 5T 等位基因屏蔽以后有一个单个 CFTR 变化。为在这些情况中的第二个 CFTR 变化的搜索被使用一条三重的途径执行:(i) 第一,反向的点污点分析被执行与地区性的影响检测变化;(ii ) 下次,多重结扎依赖者探查扩大试金被进行寻找大重新整理;并且(iii ) 最后,使中毒高效的液体层析被用来在全部编码区域寻找点变化。用这些途径,第二个 CFTR 变化在六个病人被检测,它增加了最后的察觉率到 60.8% 。 | Rossella.Giuliani Ivana Antonucci Isabella Torrente Paola Grammatico Giandomenico Palka Liborio Stuppia | 2010 | Asian Journal of Andrology2010，12，6： | 3 |
| 2 | Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa显示文摘 | Miano MG Testa F Strazzullo M Trujillo M De Bernardo C Grammatico B | | 0，，： | 2 |
| 3 | Bilinearization and solutions of the KdV equation显示文摘 | RAMANI A GRAMMATICOS B WILLOX R | | 0，，： | 1 |
| 4 | Nonintegrability of ( 2 + 1 ) -dimensional continuum isotropic Heisenberg spin system: Painlevé analysis显示文摘 | C. Senthil Kumar M. Lakshmanan B. Grammaticos A. Ramani | 2006 | Physics Letters A2006，，4： | 1 |
| 5 | An integrability test for differential-difference systems显示文摘 | RAMANI A GRAMMATICOS B TAMIZHMANI K M | 1992 | J Phys A: Math Gen1992，25，： | 1 |
| 6 | Extending the SIR epidemic model显示文摘 | Satsuma J Willox R Ramani A Carstea A S Grammaticos B | 2004 | Physica A2004，336，： | 1 |
| 7 | Serum estradiol,progesterone,testosterone,FSH and LH levels in postmenopausal women with Alzheimer's dementia显示文摘 | Tsolaki M Grammaticos P Karanasou C | 2005 | Hell J Nucl Med2005，8，1： | 1 |
| 8 | Mutation analysis of the RPGR genereveals novel mutations in south European patients with X-linked retinitis pigmentosa显示文摘 | Miano MG Testa F Strazzullo M Trujfllo M DeBernardo C Grammatico B et ol | 1999 | Eur J Hum Genet1999，7，6： | 1 |
| 9 | On the dynamics of a gene regulatory network 显示文摘 | Grammaticos B Carstea A S Ramani A | 2006 | Journal of Physics A: Mathematical and General2006，39，12： | 1 |
| 10 | Problems especially for nuclear medicine:better to prevent than to treat显示文摘 | Grammaticos P | 2005 | Hell J Nucl Med2005，8，2： | 1 |
| 11 | On the dynamics of a gene regulatory network显示文摘 | Grammaticos B Carstea A S Ramani A | 2006 | J Phys A Math Gen2006，39，12： | 1 |
| 12 | The Painlevé property and singularity analysis for integrable and nonintegrable systems显示文摘 | Ramani A Grammaticos B Bountis T | 1989 | Physics Reports1989，180，3： | 1 |
| 13 | Problems especially for nuclear medicine: better to prevent than to treat显示文摘 | Grammaticos P | 2005 | Hell J Nucl Med2005，8，2： | 1 |
| 14 | Investigating the integrability of the Lyness mappings 显示文摘 | Grammaticos B Ramani A Tamizhmani T | 2009 | J Phys A: Math Theor2009，42，45： | 1 |
| 15 | On the dynamics of a gene regulatory network显示文摘 | GRAMMATICOS B CARSTEA A S RAMANI A | 2006 | Journal of Physics A: Mathematical and General2006，39，12： | 1 |
| 16 | Hereditary hemochromatosis type 1 phenotype modifiers in Italian patients. The controversial role of variants in HAMP , BMP2 , FTL and SLC40A1 genes显示文摘 | Francesca Clementina Radio Silvia Majore Caterina Aurizi Fiammetta Sorge Gianfranco Biolcati Sara Bernabini Irene Giotti Francesca Torricelli Diana Giannarelli Carmelilia De Bernardo Paola Grammatico | 2015 | Blood Cells, Molecules and Diseases2015，，1： | 1 |
| 17 | The MINERVA study design and rationale: A controlled randomized trial to assess the clinical benefit of minimizing ventricular pacing in pacemaker patients with atrial tachyarrhythmias显示文摘 | Reinhard C. Funck Giuseppe Boriani Antonis S. Manolis Helmut Püererfellner Luis Mont Raymond Tukkie André Pisapia Carsten W. Israel Nicoletta Grovale Andrea Grammatico Luigi Padeletti | 2008 | American Heart Journal2008，，3： | 1 |
| 18 | The Painleve Property and Singularity Analysis of Integrable and Non-integrable Systems 显示文摘 | Ramani A Grammaticos B Bountis T | 1989 | Phys Rep1989，180，： | 1 |
| 19 | Thyroid function in clinical subtypes of major depression : an exploratory study 显示文摘 | Fountoulakis KN Iacovides A Grammaticos P | 2004 | BMC Psychiatry2004，4，： | 1 |
| 20 | Soliton structure of the Drinferd-Sokolov-Wilsonequation显示文摘 | HIROTA R GRAMMATICOS B RAMANI A | 1986 | J Math Phys1986，27，6： | 1 |
您所在的机构暂未开通此部分的功能，请联系管理员