Search Results - (Author, Cooperation:L. Carbone)

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  1. 1
    L. Carbone ; R. A. Harris ; S. Gnerre ; K. R. Veeramah ; B. Lorente-Galdos ; J. Huddleston ; T. J. Meyer ; J. Herrero ; C. Roos ; B. Aken ; F. Anaclerio ; N. Archidiacono ; C. Baker ; D. Barrell ; M. A. Batzer ; K. Beal ; A. Blancher ; C. L. Bohrson ; M. Brameier ; M. S. Campbell ; O. Capozzi ; C. Casola ; G. Chiatante ; A. Cree ; A. Damert ; P. J. de Jong ; L. Dumas ; M. Fernandez-Callejo ; P. Flicek ; N. V. Fuchs ; I. Gut ; M. Gut ; M. W. Hahn ; J. Hernandez-Rodriguez ; L. W. Hillier ; R. Hubley ; B. Ianc ; Z. Izsvak ; N. G. Jablonski ; L. M. Johnstone ; A. Karimpour-Fard ; M. K. Konkel ; D. Kostka ; N. H. Lazar ; S. L. Lee ; L. R. Lewis ; Y. Liu ; D. P. Locke ; S. Mallick ; F. L. Mendez ; M. Muffato ; L. V. Nazareth ; K. A. Nevonen ; M. O'Bleness ; C. Ochis ; D. T. Odom ; K. S. Pollard ; J. Quilez ; D. Reich ; M. Rocchi ; G. G. Schumann ; S. Searle ; J. M. Sikela ; G. Skollar ; A. Smit ; K. Sonmez ; B. ten Hallers ; E. Terhune ; G. W. Thomas ; B. Ullmer ; M. Ventura ; J. A. Walker ; J. D. Wall ; L. Walter ; M. C. Ward ; S. J. Wheelan ; C. W. Whelan ; S. White ; L. J. Wilhelm ; A. E. Woerner ; M. Yandell ; B. Zhu ; M. F. Hammer ; T. Marques-Bonet ; E. E. Eichler ; L. Fulton ; C. Fronick ; D. M. Muzny ; W. C. Warren ; K. C. Worley ; J. Rogers ; R. K. Wilson ; R. A. Gibbs
    Nature Publishing Group (NPG)
    Published 2014
    Staff View
    Publication Date:
    2014-09-12
    Publisher:
    Nature Publishing Group (NPG)
    Print ISSN:
    0028-0836
    Electronic ISSN:
    1476-4687
    Topics:
    Biology
    Chemistry and Pharmacology
    Medicine
    Natural Sciences in General
    Physics
    Keywords:
    Animals ; Evolution, Molecular ; Genome/*genetics ; Hominidae/classification/genetics ; Humans ; Hylobates/*classification/*genetics ; *Karyotype ; Molecular Sequence Data ; *Phylogeny ; Retroelements/genetics ; Selection, Genetic ; Transcription Termination, Genetic
    Published by:
    http://www.nature.com/

    Latest Papers from Table of Contents or Articles in Press
  2. 2
    Amico, P. ; Bosi, L. ; Carbone, L. ; Gammaitoni, L.

    [S.l.] : American Institute of Physics (AIP)
    Published 2002
    Staff View
    ISSN:
    1089-7623
    Source:
    AIP Digital Archive
    Topics:
    Physics
    Electrical Engineering, Measurement and Control Technology
    Notes:
    Thermal noise in the mirror substrates sets a most severe limit to the low-frequency sensitivity of the interferometric gravitational wave detectors presently under construction. The mechanical quality of the mirror substrates and the geometry of their suspension are shown to affect markedly the noise level of the detector output. High mechanical Q have been obtained for different large fused silica substrates under Virgo suspension conditions. Moreover, calcium fluoride substrates are shown to provide a more promising option for the design of future cryogenic, low thermal noise interferometers. © 2002 American Institute of Physics.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1063/1.1419222

    Articles: DFG German National Licenses
  3. 3
    Staff View
    ISSN:
    1432-0827
    Keywords:
    Key words: Methotrexate — Bone loss — Rheumatoid arthritis.
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Biology
    Medicine
    Physics
    Notes:
    Abstract. Because previous studies of high-dose methotrexate usage have demonstrated an effect on bone formation and resorption, this study was done to determine whether long-term, low-dose use of methotrexate for the treatment of rheumatoid arthritis causes bone loss. Bone mineral density (BMD) of the lumbar spine and hip was measured in 10 Caucasian postmenopausal women who had never received methotrexate and 10 Caucasian postmenopausal women who had received the drug for 3 or more years. There were no significant differences in BMD at the lumbar spine (L2–L4) between patients who had used long-term methotrexate compared with patients never treated with methotrexate (1.08 ± 0.08 g/cm2 versus 0.98 ± 0.14 g/cm2, respectively; P= 0.08). Similarly, there were no significant differences in BMD at the femoral neck between methotrexate users and nonusers (0.81 ± 0.08 g/cm2 versus 0.76 ± 0.15 g/cm2, respectively; P= 0.42). These results suggest that long-term low-dose methotrexate treatment for rheumatoid arthritis is not associated with accelerated bone loss.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/s002239900585

    Articles: DFG German National Licenses
  4. 4
    Staff View
    ISSN:
    1433-2965
    Keywords:
    Key words:Bone density – Bone turnover – Ehlers-Danlos Syndrome – Female – Osteoporosis
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Medicine
    Notes:
    Abstract: Ehlers-Danlos Syndrome (EDS) is the most common inherited disorder of connective tissue recognized. The objectives of the present study were to determine bone mineral density (BMD) and biochemical markers of bone metabolism in EDS. Twenty-three subjects with Type III EDS and 23 matched controls underwent BMD measurement by dual-Energy X-ray absorptiometry (DXA) of the lumbar spine and femoral neck. Health history questionnaires and biochemical markers of bone and connective tissue metabolism were also assessed. No significant differences in BMD at the lumbar spine or differences in biochemical markers of bone and connective tissue metabolism were found between EDS subjects and controls. EDS subjects had a significantly decreased BMD at the femoral neck compared with controls, but this difference disappeared after adjustment for body height, weight and physical activity levels.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/s001980070104

    Articles: DFG German National Licenses
  5. 5
    Staff View
    ISSN:
    1432-0827
    Keywords:
    Key words: Quantitative ultrasound — Bone mineral density — Collagen abnormalities — Ehlers-Danlos syndrome — Systemic sclerosis.
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Biology
    Medicine
    Physics
    Notes:
    Abstract. There is little information concerning how the mutation of collagen affects bone mineralization and the assessment of bone properties. To estimate these influences, we performed ultrasonic assessments of the calcaneus and bone mineral density (BMD) measurements of the hip and lumbar spine. Females with diseases related to the mutation of collagen [Ehlers-Danlos syndrome (EDS) type III and systemic sclerosis (SSc)] participated in this study. We compared the broadband ultrasound attenuation (BUA and UBI-4), the average transit time through the heel (TTH), and a multiple factor index (UBI-4T) with control subjects matched on age, race, and menstrual status. Both groups of patients had BMD of the spine (L2–L4) within the normal range for their age and sex (for EDS: n = 23, 1.14 ± 0.14 g/cm2 and z-score = 0.37; for SSc: n = 15, 0.98 ± 0.15 g/cm2 and z-score = 0.20). EDS and SSc subjects had lower BMD of the femoral neck (FN) compared with controls (for EDS: 0.91 ± 0.13 g/cm2, z-score =−0.41, P= 0.025; for SSc 0.67 ± 0.13 g/cm2, z-score =−0.92, P= 0.006). Subjects with EDS and SSc also had lower BUA values (P= 0.051–0.001) compared with controls. After adjusting for body weight, height, and the level of physical activity, the difference in FN BMD between EDS or SSc and controls became marginal (EDS: P= 0.072; SSc: P= 0.086). However, the significant difference for BUA between subjects and controls remained for EDS (P= 0.008), and disappeared for SSc (0.70) after adjusting for weight, height, level of physical activity, and BMD. These results suggest that the abnormalities of collagen may impact on bone mass measurements differently depending on skeletal site, modality of the assessment, and the source and nature of collagen defects. To determine whether collagen properties influence QUS, proper models in vivo and in vitro should be used.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/s002239900635

    Articles: DFG German National Licenses
  6. 6
    Staff View
    ISSN:
    1432-1203
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Biology
    Medicine
    Notes:
    Summary The development of prenatal diagnosis in Italy was made difficult by the restrictions of the old abortion law and only in recent years has a consistent number of cases been investigated. We report the experience on prenatal chromosome diagnosis of ten Italian centers participating in a collaborative study on 4952 diagnoses performed from 1972 to 1980. The main indication groups were: advanced maternal age (2882 cases), previous child with chromosome anomaly from parents with normal karyotype (847 cases), and chromosome anomaly in one parent (97 cases). The other indications for amniocentesis, including cases without a cytogenetic risk, have been assembled into a “miscellaneous” group (1126 cases). We found 125 abnormal fetal karyotypes (2.5%) of which 89 were unbalanced (1.8%). The frequencies and types of chromosome anomalies are reported in detail for each indication group and are compared with the corresponding ones from the European Munich Conference. The great majority of these Italian data were not included in the Munich report.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/BF00281266

    Articles: DFG German National Licenses