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| 1 | 关于孤立特发性中枢性性腺功能低下(ICH)遗传病因的新发现显示文摘特发性低促性腺激素性性功能减退症(IHH)是一种罕见的疾病,它的病症表现为青春期的推迟或者缺失,以及(或者)不育症。这些病症是由于促性腺激素释放激素(GnRH)的作用未能对正常的垂体.性腺轴产生足够的刺激。由于罹患该病的患者体内的促卯泡激素(FSH)和黄体生成素(LH)的水平偏低或正常,所以采用孤立特发性中枢性性腺功能低下(ICH)这一术语定义该疾病可能更为合适。该疾病应区别于伴有其它垂体缺陷的中枢性性腺功能减退。孤立特发性中枢性性腺功能低下的发病机制比较复杂,且在男性中的发病率比中枢性性腺功能减退多5倍。大部分情况下,该病的患病人群比较分散,但也曾经报道过几例家族病例。这一发现加上其它很多致病基因突变的调查,以及一些基因敲除模型的出现,证明了该疾病的发病可能有一个强大的遗传学因素存在。孤立特发性中枢性性腺功能低下可能与一些包含锇缺乏在内的形态遗传学异常有关联,而锇缺乏与孤立特发性中枢性性腺功能低下构成了卡尔曼氏综合症(KS)的主要病征。在全部的孤立特发性中枢性性腺功能低下病例中,卡尔曼氏综合症约占40%,也被视作一个特殊的患者子群体。然而,经过对患有孤立的锇缺陷或者卡尔曼氏综合症(KS)亦或孤立特发性中枢性性腺功能低下的包含亲戚在内的几个家族谱系内部的病患的调查,证明孤立特发性中枢性性腺功能低下是一种复杂的遗传性疾病,它具有复杂多样的表征以及显性。由此得出,不管是多个基因变异还是环境因素或者核外遗传的变化都有可能导致复杂多样的病征。本文综述了己知的、与孤立特发性中枢性性腺功能低下的发病机制相关的遗传机制,并且对由意大利孤立特发性中枢性性腺功能低下网络合作中心所收集的227例病例作出临床概述。 | Marco Bonomi Domenico Vladimiro Libri Fabiana Guizzardi Elena Guarducci Elisabetta Maiolo Elisa Pignatti Roberta Asci Luca Persani | 2012 | Asian Journal of Andrology2012，14，1： | 10 |
| 2 | Evaluation and Exploitation of Retrieval Algorithms for Estimating Biophysical Crop Variables Using Sentinel-2,Venus,and PRISMA Satellite Data显示文摘This paper is devoted to the development and testing of the optimal procedures for retrieving biophysical crop variables by exploiting the spectral information of current multispectral optical satellite Sentinel-2 and Venus and in view of the advent of the new Sino-EU hyperspectral satellite(e.g.,PRISMA,EnMAP,and GF-5).Two different methodologies devoted to the estimation of biophysical crop variables Leaf area index(LAI)and Leaf chlorophyll content(Cab)were evaluated:non-kernel-based and kernel-based Machine Learning Regression Algorithms(MLRA);Sentinel-2 and Venus data comparison for the analysis of the durum wheat-growing season.Results show that for Sentinel-2 data,Gaussian Process Regression(GPR)was the best performing algorithm for both LAI(R 2=0.89 and RMSE=0.59)and Cab(R 2=0.70 and RMSE=8.31).Whereas,for PRISMA simulated data the Kernel Ridge Regression(KRR)was the best performing algorithm among all the other MLRA(R 2=0.91 and RMSE=0.51)for LAI and(R 2=0.83 and RMSE=6.09)for Cab,respectively.Results of Sentinel-2 and Venus data for durum wheat-growing season were consistent with ground truth data and confirm also that SWIR bands,which are used as tie-points in the PROSAIL inversion,are extremely useful for an accurate retrieving of crop biophysical parameters. | Raffaele CASA Deepak UPRETI Angelo PALOMBO Simone PASCUCCI Hao YANG Guijun YANG Wenjiang HUANG Stefano PIGNATTI | 2020 | Journal of Geodesy and Geoinformation Science2020，3，4： | 2 |
| 3 | Endoscopic forehead lift for ptosis of the brow caused by facial paralysis显示文摘 | Rautio J Pignatti M | 2001 | Scand J Plast Reconstr Surg Hand Surg2001，35，1： | 1 |
| 4 | Extraabdominal desmoid tumor 显示文摘 | Pignatti G Barbanti - Brodano G Ferrari D | 2000 | Clin Orthop Res2000，375，： | 1 |
| 5 | Specific impairments of selective attention in mild Alzheimer's disease显示文摘 | Pignatti R Rabuffetti M Imbornone E | 2005 | J Clin Exp Neuropsychol2005，27，4： | 1 |
| 6 | Novel fasciocutaneous flaps for the reconstruction of complicated lower extremity wounds显示文摘 | Pignatti M D'Arpa S Cubison TC | 2009 | Tech Orthop2009，24，2： | 1 |
| 7 | Cisternal CSF levels of cytokines after subarachnoid haemorrhage显示文摘 | Gaetani P Tartara F Pignatti P | 1998 | Neurol Res1998，20，： | 1 |
| 8 | Long-term efficacy and safety of polyacrylamide hydrogel injection in the treatment of hu- man immunodeficiency virus-related facial lipoatrophy: a 5-year follow-up 显示文摘 | de Santis G Pignatti M Pedone A | 2012 | Plast Reconstr Surg2012，129，1： | 1 |
| 9 | Evaluating Hyperion Capability for Land Cover Mapping in a Fragmented Ecosys- tem:Pollino National Park, Italy显示文摘 | Pignatti S Cavalli R M Cuomo V | 2009 | Remote Sensing of Envi- ronment2009，113，3： | 1 |
| 10 | Extraab-dominal desmoid tumor A study of 83 cases显示文摘 | Pignatti G Barbanti-Brodano G Ferrari D | | 0，，： | 1 |
| 11 | Propeller flaps for leg reconstruction显示文摘 | Pignatti M Pasqualini M Goverua M | 2008 | J Plast Reconstr Aesthet Surg2008，61，7： | 1 |
| 12 | Evaluating Hyperion capability for land cover mapping in a fragmented ecosystem: Pollino national park, Italy 显示文摘 | Pignatti S Cavalli R M Cuomo V | 2009 | Remote Sensing of En- vironment2009，113，3： | 1 |
| 13 | A review of asthma genetics : gene expression studies and recent candidates 显示文摘 | Malerba G Pignatti PF | 2005 | J Appl Genet2005，46，1： | 1 |
| 14 | Anterior extraoral surgery to the upper cervical spine显示文摘 | Pignatti G Malaguti MC | 1996 | Spine1996，21，14： | 1 |
| 15 | Anterior extraoral surgery to the upper cervical spine显示文摘 | Laus M Pignatti G Malaguti MC | 1996 | Spine1996，21，9： | 1 |
| 16 | The Inci- dence and Cost of Job Loss in the Ukrainian labor Market显示文摘 | Hartmut Lehmann Norberto Pignatti Jonathan Wadsworth | 2006 | Journal of Comparative Economics2006，，34： | 1 |
| 17 | The' Tokyo' consensus on propeller flaps显示文摘 | Pignatti M Hallock GG | 2011 | Hast Reconstr Surg2011，127，2： | 1 |
| 18 | Neridronate improves bone mineral density and reduces back pain in β-thalassaemia patients with osteoporosis:results from a phase 2,randomized,parallel-arm,open-label study显示文摘 | Forni GL Perrotta S Giusti A Quarta G Pitrolo L Cappellini MD D'Ascola DG Borgna Pignatti C Rigano P Filosa A Iolascon G Nobili B Baldini M Rosa A Pinto V Palummeri E | | 0，，： | 1 |
| 19 | Cisternal CSF levels of cytokines aftersubarachnoid hemorrhage显示文摘 | Gaetani P Tat-tara F Pignatti P | 1998 | Neurol Res1998，20，2： | 1 |
| 20 | Iron overload in Africans and African-Americans and a common mutation in the SCL40A1 (ferroportin 1) gene☆显示文摘 | Victor R Gordeuk Angela Caleffi Elena Corradini Francesca Ferrara Russell A Jones Oswaldo Castro Onyinye Onyekwere Rick Kittles Elisa Pignatti Giuliana Montosi Cinzia Garuti Innocent T Gangaidzo Z.A.R Gomo Victor M Moyo Tracey A Rouault Patrick MacPhail A | 2003 | Blood Cells Molecules and Diseases2003，，3： | 1 |
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