T. Roscioli: search on Z-Library

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1

Personal genomic screening: How best to facilitate preparedness of future clients

Fleming, Jane, Terrill, Bronwyn, Dziadek, Marie, Kirk, Edwin P., Roscioli, Tony, Barlow-Stewart, Kristine

Journal:

European Journal of Medical Genetics

Year:

2019

Language:

english

File:

PDF, 765 KB

english, 2019

2

COPD-Related Modification to the Airway Epithelium Permits Intracellular Residence of Nontypeable Haemophilus influenzae and May Be Potentiated by Macrolide Arrest of Autophagy

Poh, Wee-Peng, Kicic, Anthony, Lester, Susan E, Nguyen, Phan T, Bakaletz, Lauren O, Reynolds, Paul N, Hodge, Sandra, Roscioli, Eugene

Journal:

International Journal of Chronic Obstructive Pulmonary Disease

Year:

2020

File:

PDF, 5.13 MB

2020

3

Methane Emissions from Natural Gas Compressor Stations in the Transmission and Storage Sector: Measurements and Comparisons with the EPA Greenhouse Gas Reporting Program Protocol

Subramanian, R., Williams, Laurie L., Vaughn, Timothy L., Zimmerle, Daniel, Roscioli, Joseph R., Herndon, Scott C., Yacovitch, Tara I., Floerchinger, Cody, Tkacik, Daniel S., Mitchell, Austin L., Sull

Journal:

Environmental Science & Technology

Year:

2015

Language:

english

File:

PDF, 2.30 MB

english, 2015

4

Measurements of Methane Emissions from Natural Gas Gathering Facilities and Processing Plants: Measurement Results

Mitchell, Austin L., Tkacik, Daniel S., Roscioli, Joseph R., Herndon, Scott C., Yacovitch, Tara I., Martinez, David M., Vaughn, Timothy L., Williams, Laurie L., Sullivan, Melissa R., Floerchinger, Cod

Journal:

Environmental Science & Technology

Year:

2015

Language:

english

File:

PDF, 2.58 MB

english, 2015

5

Quantum Structure of the Intermolecular Proton Bond

Roscioli, J. R., McCunn, L. R., Johnson, M. A.

Journal:

Year:

2007

Language:

english

File:

PDF, 370 KB

english, 2007

6

Differential Effects of FGFR2 Mutation in Ophthalmic Findings in Apert Syndrome

Khong, Jwu Jin, Anderson, Peter J., Hammerton, Michael, Roscioli, Tony, Selva, Dinesh, David, David J.

Journal:

Journal of Craniofacial Surgery

Year:

2007

Language:

english

File:

PDF, 61 KB

english, 2007

7

Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency

Balasubramaniam, S., Riley, L. G., Bratkovic, D., Ketteridge, D., Manton, N., Cowley, M. J., Gayevskiy, V., Roscioli, T., Mohamed, M., Gardeitchik, T., Morava, E., Christodoulou, J.

Journal:

Journal of Inherited Metabolic Disease

Year:

2017

Language:

english

File:

PDF, 517 KB

english, 2017

8

Vehicle-Based Methane Surveys for Finding Natural Gas Leaks and Estimating Their Size: Validation and Uncertainty

Weller, Zachary D., Roscioli, Joseph R., Daube, W. Conner, Lamb, Brian K., Ferrara, Thomas W., Brewer, Paul E., von Fischer, Joseph C.

Journal:

Environmental Science & Technology

Year:

2018

Language:

english

File:

PDF, 2.83 MB

english, 2018

9

Glibenclamide treatment in a Cantú syndrome patient with a pathogenic ABCC9 gain‐of‐function variant: Initial experience

Ma, Alan, Gurnasinghani, Sunita, Kirk, Edwin P., McClenaghan, Conor, Singh, Gautam K., Grange, Dorothy K., Pandit, Chetan, Zhou, Ying, Roscioli, Tony, Elakis, George, Buckley, Michael, Mehta, Bhavesh,

Journal:

American Journal of Medical Genetics Part A

Year:

2019

Language:

english

File:

PDF, 1.17 MB

english, 2019

10

Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature

T. Roscioli, S. Flanagan, P. Kumar, J. Masel, M. Gattas, V.J. Hyland, I.A. Glass

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 870 KB

english, 2000

11

Premature calvarial synostosis and epidermal hyperplasia (Beare-Stevenson syndrome-like anomalies) resulting from a P250R missense mutation in the gene encoding fibroblast growth factor receptor 3

T. Roscioli, S. Flanagan, R.J. Mortimore, P. Kumar, D. Weedon, J. Masel, R. Lewandowski, V. Hyland, I.A. Glass

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 499 KB

english, 2001

12

Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia

Valentine J. Hyland, Stephen P. Robertson, Simon Flanagan, Ravi Savarirayan, Tony Roscioli, John Masel, Mark Hayes, Ian A. Glass

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 513 KB

english, 2003

13

The 10q24-linked split hand/split foot syndrome (SHFM3): Narrowing of the critical region and confirmation of the clinical phenotype

Tony Roscioli, Peter J. Taylor, Andrew Bohlken, Jennifer A. Donald, John Masel, Ian A. Glass, Michael F. Buckley

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 259 KB

english, 2004

14

Pallister–Hall syndrome: Unreported skeletal features of a GLI3 mutation

T. Roscioli, D. Kennedy, J. Cui, B. Fonseca, G.F. Watson, J. Pereira, Y-G. Xie, D. Mowat

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 131 KB

english, 2005

15

Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation

Andreas Zankl, George Elakis, Rachel D. Susman, Garry Inglis, Glenn Gardener, Michael F. Buckley, Tony Roscioli

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 265 KB

english, 2008

16

Lambdoid synostosis and craniofacial dysmorphism with normal intellect: A novel syndrome?

Claudine Rieubland, Anthony D. Holmes, Melody Caramins, Tony Roscioli, David J. Amor

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 87 KB

english, 2011

17

Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome)

Miles D. Thompson, Tony Roscioli, Carlo Marcelis, Marjan M. Nezarati, Irene Stolte-Dijkstra, Frances J. Sharom, Peihua Lu, John A. Phillips, Elizabeth Sweeney, Peter N. Robinson, Peter Krawitz, Helger

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 218 KB

english, 2012

18

Gasphasen-Infrarotspektroskopie und mehrdimensionale quantenmechanische Rechnungen zum protonierten Ammoniakdimer N2H7+

Knut R. Asmis, Yonggang Yang, Gabriele Santambrogio, Mathias Brümmer, J. Robert Roscioli, Laura R. McCunn, Mark A. Johnson, Oliver Kühn

Journal:

Angewandte Chemie

Year:

2007

Language:

german

File:

PDF, 438 KB

german, 2007

19

Gas-Phase Infrared Spectroscopy and Multidimensional Quantum Calculations of the Protonated Ammonia Dimer N2H7+

Knut R. Asmis, Yonggang Yang, Gabriele Santambrogio, Mathias Brümmer, J. Robert Roscioli, Laura R. McCunn, Mark A. Johnson, Oliver Kühn

Journal:

Angewandte Chemie International Edition

Year:

2007

Language:

english

File:

PDF, 441 KB

english, 2007

20

Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily

Elena G. Bochukova, Tony Roscioli, Dale J. Hedges, Indira B. Taylor, David Johnson, David J. David, Prescott L. Deininger, Andrew O.M. Wilkie

Journal:

Year:

2009

Language:

english

File:

PDF, 351 KB

english, 2009

21

2643

Roscioli, N., Kari, G., Booty, J.O., Rehemtulla, A., Rodeck, U., Dicker, A.P.

Journal:

International Journal of Radiation Oncology*Biology*Physics

Year:

2006

Language:

english

File:

PDF, 69 KB

english, 2006

22

Improvements in the analysis of decabromodiphenyl ether using on-column injection and electron-capture detection

Andrea Binelli, Claudio Roscioli, Licia Guzzella

Journal:

Journal of Chromatography A

Year:

2006

Language:

english

File:

PDF, 280 KB

english, 2006

23

Hydrogen bonding and tunneling in the 2-pyridone·2-hydroxypyridine dimer. Effect of electronic excitation

David R. Borst, Joseph R. Roscioli, David W. Pratt, Gina M. Florio, Timothy S. Zwier, Andreas Müller, Samuel Leutwyler

Journal:

Chemical Physics

Year:

2002

Language:

english

File:

PDF, 490 KB

english, 2002

24

The first prenatal diagnosis for veno-occlusive disease and immunodeficiency syndrome, an autosomal recessive condition associated with mutations in SP110

Simon T. Cliffe, Melanie Wong, Peter J. Taylor, Ezia Ruga, Bridget Wilcken, Robert Lindeman, Michael F. Buckley, Tony Roscioli

Journal:

Prenatal Diagnosis

Year:

2007

Language:

english

File:

PDF, 309 KB

english, 2007

25

Polybrominated Diphenyl Ethers (PBDEs) in Gammarids, Caddisflies, and Bed Sediments of the Lowland River Po

Luigi Viganò, Claudio Roscioli, Claudio Erratico, Licia Guzzella, Anna Farkas

Journal:

Bulletin of Environmental Contamination and Toxicology

Year:

2009

Language:

english

File:

PDF, 438 KB

english, 2009

26

Polybrominated Diphenyl Ethers (PBDEs) and Polychlorinated Biphenyls (PCBs) in 0+ Juvenile Cyprinids and Sediments of the Po River

Luigi Viganò, Claudio Roscioli, Claudio Erratico, Licia Guzzella

Journal:

Archives of Environmental Contamination and Toxicology

Year:

2008

Language:

english

File:

PDF, 489 KB

english, 2008

27

Nuclear reformation after mitosis requires downregulation of the Ran GTPase effector RanBP1 in mammalian cells

Marilena Ciciarello, Emanuele Roscioli, Barbara Di Fiore, Laura Di Francesco, Fabrizia Sobrero, Delphine Bernard, Rosamaria Mangiacasale, Amnon Harel, Maria Eugenia Schininà, Patrizia Lavia

Journal:

Year:

2010

Language:

english

File:

PDF, 1.09 MB

english, 2010

28

Dietary zinc mediates inflammation and protects against wasting and metabolic derangement caused by sustained cigarette smoke exposure in mice

Carol J. Lang, Michelle Hansen, Eugene Roscioli, Jessica Jones, Chiara Murgia, Margaret Leigh Ackland, Peter Zalewski, Gary Anderson, Richard Ruffin

Journal:

Year:

2011

Language:

english

File:

PDF, 506 KB

english, 2011

29

Tuning the intermolecular proton bond in the H5 ‘Zundel ion’ scaffold

S.G. Olesen, T.L. Guasco, J.R. Roscioli, M.A. Johnson

Journal:

Chemical Physics Letters

Year:

2011

Language:

english

File:

PDF, 650 KB

english, 2011

30

Discrepancies in upper and lower limb patterning in split hand foot malformation

AM Elliott, MH Reed, T Roscioli, JA Evans

Journal:

Clinical Genetics

Year:

2005

Language:

english

File:

PDF, 743 KB

english, 2005

31

A homozygous FKRP start codon mutation is associated with Walker–Warburg syndrome, the severe end of the clinical spectrum

J Van Reeuwijk, MJW Olderode-Berends, C Van Den Elzen, OF Brouwer, T Roscioli, MG Van Pampus, H Scheffer, HG Brunner, H Van Bokhoven, FA Hol

Journal:

Clinical Genetics

Year:

2010

Language:

english

File:

PDF, 705 KB

english, 2010

32

The syndrome of hereditary leiomyomatosis and renal cell cancer (HLRCC): The clinical features of an individual with a fumarate hydratase gene mutation

Alexandra Varol, Karen Stapleton, Tony Roscioli

Journal:

Australasian Journal of Dermatology

Year:

2006

Language:

english

File:

PDF, 87 KB

english, 2006

33

Podiatric Problems on a Stroke Rehabilitation Unit

E. Jordan, C. Lekkas, D. Roscioli, M. Russell, P. Finucane

Journal:

Australasian Journal on Ageing

Year:

1997

Language:

english

File:

PDF, 361 KB

english, 1997

34

Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification

Rutsch, Frank, Ruf, Nico, Vaingankar, Sucheta, Toliat, Mohammad R., Suk, Anita, Höhne, Wolfgang, Schauer, Galen, Lehmann, Mandy, Roscioli, Tony, Schnabel, Dirk

Journal:

Nature Genetics

Year:

2003

Language:

english

File:

PDF, 117 KB

english, 2003

35

Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease

Roscioli, Tony, Cliffe, Simon T, Bloch, Donald B, Bell, Christopher G, Mullan, Glenda, Taylor, Peter J, Sarris, Maria, Wang, Joanne, Donald, Jennifer A, Kirk, Edwin P

Journal:

Nature Genetics

Year:

2006

Language:

english

File:

PDF, 187 KB

english, 2006

36

RanBP1 downregulation sensitizes cancer cells to taxol in a caspase-3-dependent manner

Rensen, W M, Roscioli, E, Tedeschi, A, Mangiacasale, R, Ciciarello, M, Di Gioia, S A, Lavia, P

Journal:

Year:

2009

Language:

english

File:

PDF, 573 KB

english, 2009

37

State-Resolved Scattering at Room-Temperature Ionic Liquid−Vacuum Interfaces: Anion Dependence and the Role of Dynamic versus Equilibrium Effects

Roscioli, Joseph R., Nesbitt, David J.

Journal:

The Journal of Physical Chemistry Letters

Year:

2010

Language:

english

File:

PDF, 1.20 MB

english, 2010

38

Seasonal fluctuations of DDTs and PCBs in zooplankton and fish of Lake Maggiore (Northern Italy)

Roberta Bettinetti, Silvia Quadroni, Marina Manca, Roberta Piscia, Pietro Volta, Licia Guzzella, Claudio Roscioli, Silvana Galassi

Journal:

Year:

2012

Language:

english

File:

PDF, 536 KB

english, 2012

39

F.56. Veno-occlusive Disease with Immunodeficiency (VODI): First Reported Case in the U.S. and Identification of a Unique Mutation in the Gene Encoding a PML Nuclear Body Protein, SP110

Tiffany Wang, Peck Ong, Tony Roscioli, Simon Cliffe, Robert Lindeman, Michael Buckley, Joseph Church

Journal:

Clinical Immunology

Year:

2008

Language:

english

File:

PDF, 37 KB

english, 2008

40

Organic persistent toxic substances in soils, waters and sediments along an altitudinal gradient at Mt. Sagarmatha, Himalayas, Nepal

Licia Guzzella, Giulia Poma, Adolfo De Paolis, Claudio Roscioli, Gaetano Viviano

Journal:

Environmental Pollution

Year:

2011

Language:

english

File:

PDF, 1.56 MB

english, 2011

41

Leucine-rich repeat, immunoglobulin-like and transmembrane domain 3 (LRIT3) is a modulator of FGFR1

Sun-Don Kim, Jia Lie Liu, Tony Roscioli, Michael F. Buckley, Garima Yagnik, Simeon A. Boyadjiev, Jinoh Kim

Journal:

Year:

2012

Language:

english

File:

PDF, 1.01 MB

english, 2012

42

B4GALT1-Congenital Disorders of Glycosylation Presents as a Non-Neurologic Glycosylation Disorder with Hepatointestinal Involvement

Maïlys Guillard, Eva Morava, Jorg de Ruijter, Tony Roscioli, Johann Penzien, Lambert van den Heuvel, Michel A. Willemsen, Arjan de Brouwer, Olaf A. Bodamer, Ron A. Wevers, Dirk J. Lefeber

Journal:

The Journal of Pediatrics

Year:

2011

Language:

english

File:

PDF, 291 KB

english, 2011

43

The accumulation levels of PAHs, PCBs and DDTs are related in an inverse way to the size of a benthic amphipod (Echinogammarus stammeri Karaman) in the River Po

Luigi Viganò, Anna Farkas, Licia Guzzella, Claudio Roscioli, Claudio Erratico

Journal:

Science of The Total Environment

Year:

2007

Language:

english

File:

PDF, 799 KB

english, 2007

44

Decabromodiphenyl ether (BDE-209) enters the food web of the River Po and is metabolically debrominated in resident cyprinid fishes

Luigi Viganò, Claudio Roscioli, Licia Guzzella

Journal:

Science of The Total Environment

Year:

2011

Language:

english

File:

PDF, 426 KB

english, 2011

45

Oxidized Graphene in Ionic Liquids for Assembling Chemically Modified Electrodes: A Structural and Electrochemical Characterization Study

Valentini, F., Roscioli, D., Carbone, M., Conte, V., Floris, B., Palleschi, G., Flammini, R., Bauer, E. M., Nasillo, G., Caponetti, E.

Journal:

Analytical Chemistry

Year:

2012

Language:

english

File:

PDF, 385 KB

english, 2012

46

Water-stable electrospun collagen fibers from a non-toxic solvent and crosslinking system

Qiuran Jiang, Narendra Reddy, Simeng Zhang, Nicholas Roscioli, Yiqi Yang

Journal:

Journal of Biomedical Materials Research Part A

Year:

2012

Language:

english

File:

PDF, 1.46 MB

english, 2012

47

Mutations in PIGO, a Member of the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation

Peter M. Krawitz, Yoshiko Murakami, Jochen Hecht, Ulrike Krüger, Susan E. Holder, Geert R. Mortier, Barbara Delle Chiaie, Elfride De Baere, Miles D. Thompson, Tony Roscioli, Szymon Kielbasa, Taroh Kin

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 635 KB

english, 2012

48

Infantile arterial calcification: Successful treatment with bisphosphonates

C.F. Munns, T. Roscioli, D.O. Sillence

Journal:

Year:

2007

Language:

english

File:

PDF, 64 KB

english, 2007

49

Contamination by polybrominated diphenyl ethers of sediments from the Lake Maggiore basin (Italy and Switzerland)

Licia Guzzella, Claudio Roscioli, Andrea Binelli

Journal:

Year:

2008

Language:

english

File:

PDF, 390 KB

english, 2008

50

Evaluation of the concentration of HCH, DDT, HCB, PCB and PAH in the sediments along the lower stretch of Hugli estuary, West Bengal, northeast India

L. Guzzella, C. Roscioli, L. Viganò, M. Saha, S.K. Sarkar, A. Bhattacharya

Journal:

Environment International

Year:

2005

Language:

english

File:

PDF, 248 KB

english, 2005

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