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1

Severe Combined Immunodeficiency in Serbia and Montenegro Between Years 1986 and 2010: A Single-Center Experience

Pasic, Srdjan, Vujic, Dragana, VeljkoviÄ, Dobrila, Slavkovic, Bojana, Mostarica-Stojkovic, Marija, Minic, Predrag, Minic, Aleksandra, Ristic, Goran, Giliani, Silvia, Villa, Anna, Sobacchi, Cristina,

Journal:

Journal of Clinical Immunology

Year:

2014

Language:

english

File:

PDF, 191 KB

english, 2014

2

CO line emission from galaxies in the Epoch of Reionization

Vallini, L., Pallottini, A., Ferrara, A., Gallerani, S., Sobacchi, E., Behrens, C.

Journal:

Monthly Notices of the Royal Astronomical Society

Year:

2018

Language:

english

File:

PDF, 2.16 MB

english, 2018

3

Models of rotating coronae

Sormani, Mattia C, Sobacchi, Emanuele, Pezzulli, Gabriele, Binney, James, Klessen, Ralf S

Journal:

Monthly Notices of the Royal Astronomical Society

Year:

2018

Language:

english

File:

PDF, 8.05 MB

english, 2018

4

Prenatal diagnosis of RAG-deficient Omenn syndrome

Anna Villa, Fabio Bozzi, Cristina Sobacchi, Dario Strina, Andres Fasth, Srdjan Pasic, Luigi D. Notarangelo, Paolo Vezzoni

Journal:

Prenatal Diagnosis

Year:

2000

Language:

english

File:

PDF, 106 KB

english, 2000

5

Craniometaphyseal dysplasia with severe craniofacial involvement shows homozygosity at 6q21-22.1 locus

Paolo Prontera, Daniela Rogaia, Cristina Sobacchi, Vanessa Luiza Romanelli Tavares, Giovanni Mazzotta, Maria Rita Passos-Bueno, Emilio Donti

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 141 KB

english, 2011

6

Damaging-agent sensitivity of Artemis-deficient cell lines

Antonio Musio, Veronica Marrella, Cristina Sobacchi, Francesca Rucci, Laura Fariselli, Silvia Giliani, Gaetana Lanzi, Luigi D. Notarangelo, Domenico Delia, Roberto Colombo, Paolo Vezzoni, Anna Villa

Journal:

European Journal of Immunology

Year:

2005

Language:

english

File:

PDF, 179 KB

english, 2005

7

TCIRG1-dependent recessive osteopetrosis: Mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA

Lucia Susani, Alessandra Pangrazio, Cristina Sobacchi, Anna Taranta, Geert Mortier, Ravi Savarirayan, Anna Villa, Paul Orchard, Paolo Vezzoni, Alberto Albertini, Annalisa Frattini, Franco Pagani

Journal:

Year:

2004

Language:

english

File:

PDF, 402 KB

english, 2004

8

RAG-dependent primary immunodeficiencies

Cristina Sobacchi, Veronica Marrella, Francesca Rucci, Paolo Vezzoni, Anna Villa

Journal:

Year:

2006

Language:

english

File:

PDF, 251 KB

english, 2006

9

Experimental assessment of a combined plasma/catalytic system for hydrogen production via partial oxidation of hydrocarbon fuels

M.G. Sobacchi, A.V. Saveliev, A.A. Fridman, L.A. Kennedy, S. Ahmed, T. Krause

Journal:

International Journal of Hydrogen Energy

Year:

2002

Language:

english

File:

PDF, 297 KB

english, 2002

10

The genetic and biochemical basis of Omenn syndrome

Sandro Santagata, Anna Villa, Cristina Sobacchi, Patricia Cortes, Paolo Vezzoni

Journal:

Immunological Reviews

Year:

2000

Language:

english

File:

PDF, 699 KB

english, 2000

11

Association Between a Polymorphism Affecting an AP1 Binding Site in the Promoter of the TCIRG1 Gene and Bone Mass in Women

C. Sobacchi, P. Vezzoni, D. M. Reid, F. E. A. McGuigan, A. Frattini, M. Mirolo, O. M. E. Albhaga, A. Musio, A. Villa, S. H. Ralston

Journal:

Calcified Tissue International

Year:

2004

Language:

english

File:

PDF, 132 KB

english, 2004

12

Infantile Malignant, Autosomal Recessive Osteopetrosis: The Rich and The Poor

Anna Villa, Matteo M. Guerrini, Barbara Cassani, Alessandra Pangrazio, Cristina Sobacchi

Journal:

Calcified Tissue International

Year:

2009

Language:

english

File:

PDF, 361 KB

english, 2009

13

Prognostic potential of precise molecular diagnosis of Autosomal Recessive Osteopetrosis with respect to the outcome of bone marrow transplantation

Anna Villa, Alessandra Pangrazio, Elena Caldana, Matteo Guerrini, Paolo Vezzoni, Annalisa Frattini, Cristina Sobacchi

Journal:

Year:

2008

Language:

english

File:

PDF, 221 KB

english, 2008

14

10.1038/77131

Vezzoni, Paolo, Frattini, Annalisa, Orchard, Paul J., Sobacchi, Cristina, Giliani, Silvia, Abinun, Mario, Mattsson, Jan P., Keeling, David J., Andersson, Ann-Katrin, Wallbrandt, Pia, Zecca, Luigi, Not

Journal:

Nature Genetics

Year:

2000

Language:

english

File:

PDF, 738 KB

english, 2000

15

Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL

Sobacchi, Cristina, Frattini, Annalisa, Guerrini, Matteo M, Abinun, Mario, Pangrazio, Alessandra, Susani, Lucia, Bredius, Robbert, Mancini, Grazia, Cant, Andrew, Bishop, Nick

Journal:

Nature Genetics

Year:

2007

Language:

english

File:

PDF, 204 KB

english, 2007

16

Characterization of a Novel Alu-Alu Recombination-Mediated Genomic Deletion in the TCIRG1 Gene in Five Osteopetrotic Patients

Alessandra Pangrazio, Maria Elena Caldana, Cristina Sobacchi, Cristina Panaroni, Lucia Susani, Ercan Mihci, Maria Luigia Cavaliere, Silvia Giliani, Anna Villa, Annalisa Frattini

Journal:

Journal of Bone and Mineral Research

Year:

2009

Language:

english

File:

PDF, 490 KB

english, 2009

17

Chloride Channel ClCN7 Mutations Are Responsible for Severe Recessive, Dominant, and Intermediate Osteopetrosis

Annalisa Frattini, Alessandra Pangrazio, Lucia Susani, Cristina Sobacchi, Massimiliano Mirolo, Mario Abinun, Marino Andolina, Adrienne Flanagan, Edwin M Horwitz, Ercan Mihci, Luigi D Notarangelo, Ugo

Journal:

Journal of Bone and Mineral Research

Year:

2003

Language:

english

File:

PDF, 83 KB

english, 2003

18

Experimental Assessment of Pulsed Corona Discharge for Treatment of VOC Emissions

Mario G. Sobacchi, Alexei V. Saveliev, A. A. Fridman, A. F. Gutsol, Lawrence A. Kennedy

Journal:

Plasma Chemistry and Plasma Processing

Year:

2003

Language:

english

File:

PDF, 323 KB

english, 2003

19

Human Osteoclast-Poor Osteopetrosis with Hypogammaglobulinemia due to TNFRSF11A (RANK) Mutations

Matteo M. Guerrini, Cristina Sobacchi, Barbara Cassani, Mario Abinun, Sara S. Kilic, Alessandra Pangrazio, Daniele Moratto, Evelina Mazzolari, Jill Clayton-Smith, Paul Orchard, Fraser P. Coxon, Miep H

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 1.80 MB

english, 2008

20

Choanal atresia: Think about osteopetrosis

Lamia Sfaihi, Kaoula Aissa, Cristina Sobacchi, Fatma Kamoun, Monem Gorbel, Mongia Hachicha

Journal:

International Journal of Pediatric Otorhinolaryngology Extra

Year:

2011

Language:

english

File:

PDF, 396 KB

english, 2011

21

TCIRG1-dependent autosomal recessive osteopetrosis: Analysis of 100 cases and detection of a recurrent genomic deletion

A. Pangrazio⁎, E.M. Caldana, C. Sobacchi, C. Panaroni, L. Susani, A. Frattini, A. Villa

Journal:

Year:

2009

Language:

english

File:

PDF, 90 KB

english, 2009

22

Prognostic potential of precise molecular diagnosis of autosomal recessive osteopetrosis

C. Sobacchi, M.M. Guerrini, B. Cassani, A. Pangrazio, A. Frattini, P. Vezzoni, A. Villa

Journal:

Year:

2009

Language:

english

File:

PDF, 64 KB

english, 2009

23

Prognostic potential of precise molecular diagnosis of Autosomal Recessive Osteopetrosis

C. Sobacchi, M. Guerrini, B. Cassani, A. Pangrazio, A. Frattini, P. Vezzoni, A. Villa

Journal:

Year:

2009

Language:

english

File:

PDF, 86 KB

english, 2009

24

Human osteopetrosis: Molecular and clinical characterization of the intermediate form

N. Lo Iacono, C. Sobacchi, A. Pangrazio, E. Caldana, A. Frattini, P. Vezzoni, A. Villa

Journal:

Year:

2010

Language:

english

File:

PDF, 55 KB

english, 2010

25

Identification of the first deletion in the LRP5 gene in a patient with Autosomal Dominant Osteopetrosis type I

Alessandra Pangrazio, Eveline Boudin, Elke Piters, Giuseppe Damante, Nadia Lo Iacono, Angela Valentina D'Elia, Paolo Vezzoni, Wim Van Hul, Anna Villa, Cristina Sobacchi

Journal:

Year:

2011

Language:

english

File:

PDF, 259 KB

english, 2011

26

Osteopetrosis rescue upon RANKL administration to RANKL−/− mice: A preclinical study

C. Sobacchi⁎, N. Lo Iacono, V. Marrella, F. Ficara, P.L. Poliani, E. Traggiai, P. Kostenuik, P. Vezzoni, H.C. Blair, A. Villa

Journal:

Year:

2012

Language:

english

File:

PDF, 67 KB

english, 2012

27

Tissue-specific sensitivity to AID expression in transgenic mouse models

Francesca Rucci, Leonardo Cattaneo, Veronica Marrella, Maria Grazia Sacco, Cristina Sobacchi, Franco Lucchini, Stefania Nicola, Silvia Della Bella, Maria Luisa Villa, Luisa Imberti, Francesca Gentili,

Journal:

Year:

2006

Language:

english

File:

PDF, 2.68 MB

english, 2006

28

Of Omenn and mice

Veronica Marrella, Pietro Luigi Poliani, Cristina Sobacchi, Fabio Grassi, Anna Villa

Journal:

Trends in Immunology

Year:

2008

Language:

english

File:

PDF, 461 KB

english, 2008

29

The RAG1/RAG2 Complex Constitutes a 3′ Flap Endonuclease: Implications for Junctional Diversity in V(D)J and Transpositional Recombination

Sandro Santagata, Eva Besmer, Anna Villa, Fabio Bozzi, John S Allingham, Cristina Sobacchi, David B Haniford, Paolo Vezzoni, Michel C Nussenzweig, Zhen-Qiang Pan, Patricia Cortes

Journal:

Year:

1999

Language:

english

File:

PDF, 460 KB

english, 1999

30

Erratum to: Autosomal recessive osteopetrosis: report of 41 novel mutations in theTCIRG1gene and diagnostic implications

A. Pangrazio, M. E. Caldana, N. Lo Iacono, S. Mantero, P. Vezzoni, A. Villa, C. Sobacchi

Journal:

Osteoporosis International

Year:

2012

Language:

english

File:

PDF, 53 KB

english, 2012

31

Autosomal recessive osteopetrosis: report of 41 novel mutations in theTCIRG1gene and diagnostic implications

A. Pangrazio, M. E. Caldana, N. L. Iacono, S. Mantero, P. Vezzoni, A. Villa, C. Sobacchi

Journal:

Osteoporosis International

Year:

2012

Language:

english

File:

PDF, 168 KB

english, 2012

32

Defect of regulatory T cells in patients with Omenn syndrome

Cassani, Barbara, Poliani, Pietro Luigi, Moratto, Daniele, Sobacchi, Cristina, Marrella, Veronica, Imperatori, Laura, Vairo, Donatella, Plebani, Alessandro, Giliani, Silvia, Vezzoni, Paolo, Facchetti,

Journal:

Journal of Allergy and Clinical Immunology

Year:

2010

Language:

english

File:

PDF, 1.16 MB

english, 2010

33

Osteopetrosis: genetics, treatment and new insights into osteoclast function

Sobacchi, Cristina, Schulz, Ansgar, Coxon, Fraser P., Villa, Anna, Helfrich, Miep H.

Journal:

Nature Reviews Endocrinology (formerly Nature Clinical Practice Endocrinology & Metabolism)

Year:

2013

Language:

english

File:

PDF, 908 KB

english, 2013

34

Homozygous stop mutation in the SNX10 gene in a consanguineous Iraqi boy with osteopetrosis and corpus callosum hypoplasia

Mégarbané, André, Pangrazio, Alessandra, Villa, Anna, Chouery, Eliane, Maarawi, Joseph, Sabbagh, Sandra, Lefranc, Gérard, Sobacchi, Cristina

Journal:

European Journal of Medical Genetics

Year:

2013

Language:

english

File:

PDF, 553 KB

english, 2013

35

Inhomogeneous recombinations during cosmic reionization

Sobacchi, E., Mesinger, A.

Journal:

Monthly Notices of the Royal Astronomical Society

Year:

2014

Language:

english

File:

PDF, 2.16 MB

english, 2014

36

As Little as Needed: The Extraordinary Case of a Mild Recessive Osteopetrosis Owing to a Novel Splicing Hypomorphic Mutation in the TCIRG1 Gene

Sobacchi, Cristina, Pangrazio, Alessandra, Lopez, Antonio González-Meneses, Gomez, Diego Pascual-Vaca, Caldana, Maria Elena, Susani, Lucia, Vezzoni, Paolo, Villa, Anna

Journal:

Journal of Bone and Mineral Research

Year:

2014

Language:

english

File:

PDF, 846 KB

english, 2014

37

A high precision, compact electromechanical ground rotation sensor

Dergachev, V., DeSalvo, R., Asadoor, M., Bhawal, A., Gong, P., Kim, C., Lottarini, A., Minenkov, Y., Murphy, C., O'Toole, A., Peña Arellano, F. E., Rodionov, A. V., Shaner, M., Sobacchi, E.

Journal:

Review of Scientific Instruments

Year:

2014

Language:

english

File:

PDF, 2.01 MB

english, 2014

38

Mutations in Conserved Regions of the Predicted RAG2 Kelch Repeats Block Initiation of V(D)J Recombination and Result in Primary Immunodeficiencies

Gomez, C. A., Ptaszek, L. M., Villa, A., Bozzi, F., Sobacchi, C., Brooks, E. G., Notarangelo, L. D., Spanopoulou, E., Pan, Z. Q., Vezzoni, P., Cortes, P., Santagata, S.

Journal:

Molecular and Cellular Biology

Year:

2000

Language:

english

File:

PDF, 2.42 MB

english, 2000

39

N-terminal RAG1 frameshift mutations in Omenn's syndrome: Internal methionine usage leads to partial V(D)J recombination activity and reveals a fundamental role in vivo for the N-terminal domains

Santagata, S., Gomez, C. A., Sobacchi, C., Bozzi, F., Abinun, M., Pasic, S., Cortes, P., Vezzoni, P., Villa, A.

Journal:

Proceedings of the National Academy of Sciences

Year:

2000

Language:

english

File:

PDF, 349 KB

english, 2000

40

IL-10 Critically Modulates B Cell Responsiveness in Rankl-/- Mice

Marrella, V., Lo Iacono, N., Fontana, E., Sobacchi, C., Sic, H., Schena, F., Sereni, L., Castiello, M. C., Poliani, P. L., Vezzoni, P., Cassani, B., Traggiai, E., Villa, A.

Journal:

The Journal of Immunology

Year:

2015

Language:

english

File:

PDF, 2.23 MB

english, 2015

41

Some comments on the electrodynamics of binary pulsars

Sobacchi, E., Vietri, M.

Journal:

Monthly Notices of the Royal Astronomical Society

Year:

2015

Language:

english

File:

PDF, 355 KB

english, 2015

42

Rescue of ATPa3-deficient murine malignant osteopetrosis by hematopoietic stem cell transplantation in utero

Frattini, A., Blair, H. C., Sacco, M. G., Cerisoli, F., Faggioli, F., Cato, E. M., Pangrazio, A., Musio, A., Rucci, F., Sobacchi, C., Sharrow, A. C., Kalla, S. E., Bruzzone, M. G., Colombo, R., Magli,

Journal:

Proceedings of the National Academy of Sciences

Year:

2005

Language:

english

File:

PDF, 611 KB

english, 2005

43

How does radiative feedback from an ultraviolet background impact reionization?

Sobacchi, E., Mesinger, A.

Journal:

Monthly Notices of the Royal Astronomical Society

Year:

2013

Language:

english

File:

PDF, 4.13 MB

english, 2013

44

Design and initial characterization of a compact, ultra high vacuum compatible, low frequency, tilt accelerometer

O’Toole, A., Peña Arellano, F. E., Rodionov, A. V., Shaner, M., Sobacchi, E., Dergachev, V., DeSalvo, R., Asadoor, M., Bhawal, A., Gong, P., Kim, C., Lottarini, A., Minenkov, Y., Murphy, C.

Journal:

Review of Scientific Instruments

Year:

2014

Language:

english

File:

PDF, 3.91 MB

english, 2014

45

The depletion of gas in high-redshift dwarf galaxies from an inhomogeneous reionization

Sobacchi, E., Mesinger, A.

Journal:

Monthly Notices of the Royal Astronomical Society: Letters

Year:

2013

Language:

english

File:

PDF, 267 KB

english, 2013

46

Targeted Gene Correction in Osteopetrotic-Induced Pluripotent Stem Cells for the Generation of Functional Osteoclasts

T. Neri, S. Muggeo, M. Paulis, M. Caldana, L. Crisafulli, D. Strina, M. Focarelli, F. Faggioli, C. Recordati, S. Scaramuzza, E. Scanziani, S. Mantero, C. Buracchi, C. Sobacchi, A. Lombardo, L. Naldini

Year:

2015

Language:

english

File:

PDF, 2.96 MB

english, 2015

47

Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia

Gannagé-Yared, Marie-Hélène, Makrythanasis, Periklis, Chouery, Eliane, Sobacchi, Cristina, Mehawej, Cybel, Santoni, Federico A., Guipponi, Michel, Antonarakis, Stylianos E., Hamamy, Hanan, Mégarbané,

Journal:

Year:

2014

Language:

english

File:

PDF, 503 KB

english, 2014

48

The Dissection of Human Autosomal Recessive Osteopetrosis Identifies an Osteoclast-Poor Form Due to RANKL Deficiency

Frattini, Annalisa, Vezzoni, Paolo, Villa, Anna, Sobacchi, Cristina

Journal:

Year:

2007

Language:

english

File:

PDF, 604 KB

english, 2007

49

The Evolution Of 21 cm Structure (EOS): public, large-scale simulations of Cosmic Dawn and reionization

Mesinger, Andrei, Greig, Bradley, Sobacchi, Emanuele

Journal:

Monthly Notices of the Royal Astronomical Society

Year:

2016

Language:

english

File:

PDF, 3.54 MB

english, 2016

50

The impact of small absorbers, galactic neutral hydrogen & X-rays on 1-point statistics of the 21-cm line.

Watkinson, C. A., Pritchard, J. R., Mesinger, A., Sobacchi, E.

Journal:

Proceedings of the International Astronomical Union

Year:

2014

Language:

english

File:

PDF, 225 KB

english, 2014

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