IZZI, Claudia: search on Z-Library

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1

Complex rearrangement of the exon 6 genomic region among Opitz G/BBB Syndrome MID1 alterations

Migliore, Chiara, Athanasakis, Emmanouil, Dahoun, Sophie, Wonkam, Ambroise, Lees, Melissa, Calabrese, Olga, Connell, Fiona, Lynch, Sally Ann, Izzi, Claudia, Pompilii, Eva, Thakur, Seema, van Maarle, M

Journal:

European Journal of Medical Genetics

Year:

2013

Language:

english

File:

PDF, 674 KB

english, 2013

2

Readers' Dialogue

Alton T. Olson, John Izzi, Claudia Zaslavsky, Robert Madell, Linnea Weiland and Robert N. Allan

Journal:

The Arithmetic Teacher

Year:

1974

Language:

english

File:

PDF, 630 KB

english, 1974

3

Prenatal findings in oral‐facial‐digital syndrome type VI: report of three cases and literature review

Dordoni, Chiara, Prefumo, Federico, Iascone, Maria, Pinelli, Lorenzo, Palumbo, Giovanni, Bondioni, Maria Pia, Savoldi, Gianfranco, Donzelli, Carla, Sartori, Enrico, Valente, Enza Maria, Izzi, Claudia

Journal:

Prenatal Diagnosis

Year:

2019

File:

PDF, 361 KB

2019

4

Fabrication of monolithic CZTS/Si tandem cells by development of the intermediate connection

Valentini, Matteo, Malerba, Claudia, Serenelli, Luca, Izzi, Massimo, Salza, Enrico, Tucci, Mario, Mittiga, Alberto

Journal:

Year:

2019

Language:

english

File:

PDF, 1.59 MB

english, 2019

5

Sequencing of the GRIK1 gene in patients with juvenile absence epilepsy does not reveal mutations affecting receptor structure

Claudia Izzi, Alessandro Barbon, Rebekka Kretz, Thomas Sander, Sergio Barlati

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 139 KB

english, 2002

6

Candidate gene analysis of the human metabotropic glutamate receptor type 4 (GRM4) in patients with juvenile myoclonic epilepsy

Claudia Izzi, Alessandro Barbon, Mohammad Reza Toliat, Armin Heils, Christian Becker, Peter Nürnberg, Thomas Sander, Sergio Barlati

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2003

Language:

english

File:

PDF, 91 KB

english, 2003

7

Alport syndrome and leiomyomatosis: the first deletion extending beyondCOL4A6intron 2

Vera Uliana, Elena Marcocci, Mafalda Mucciolo, Ilaria Meloni, Claudia Izzi, Carlo Manno, Mirella Bruttini, Francesca Mari, Francesco Scolari, Alessandra Renieri, Leonardo Salviati

Journal:

Pediatric Nephrology

Year:

2011

Language:

english

File:

PDF, 466 KB

english, 2011

8

Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis

Micale, Lucia, Turturo, Maria Giuseppina, Fusco, Carmela, Augello, Bartolomeo, Jurado, Luis A Pérez, Izzi, Claudia, Digilio, Maria Cristina, Milani, Donatella, Lapi, Elisabetta, Zelante, Leopoldo

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 548 KB

english, 2009

9

Uromodulin storage diseases: Clinical aspects and mechanisms

Francesco Scolari, Gianluca Caridi, Luca Rampoldi, Regina Tardanico, Claudia Izzi, Doroti Pirulli, Antonio Amoroso, Giorgio Casari, Gian Marco Ghiggeri

Journal:

American Journal of Kidney Diseases

Year:

2004

Language:

english

File:

PDF, 313 KB

english, 2004

10

IgA Nephropathy: The Presence of Familial Disease Does Not Confer an Increased Risk for Progression

Claudia Izzi, Pietro Ravani, Diletta Torres, Elisabetta Prati, Battista Fabio Viola, Simona Guerini, Marina Foramitti, Giovanni Frascà, Antonio Amoroso, Gian Marco Ghiggeri, Francesco Paolo Schena, Fr

Journal:

American Journal of Kidney Diseases

Year:

2006

Language:

english

File:

PDF, 149 KB

english, 2006

11

Localization of a Gene for Nonsyndromic Renal Hypodysplasia to Chromosome 1p32-33

Simone Sanna-Cherchi, Gianluca Caridi, Patricia L. Weng, Monica Dagnino, Marco Seri, Anita Konka, Danio Somenzi, Alba Carrea, Claudia Izzi, Domenica Casu, Landino Allegri, Kai M. Schmidt-Ott, Jonathan

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 616 KB

english, 2007

12

Urinary secretion and extracellular aggregation of mutant uromodulin isoforms

Schaeffer, Céline, Cattaneo, Angela, Trudu, Matteo, Santambrogio, Sara, Bernascone, Ilenia, Giachino, Daniela, Caridi, Gianluca, Campo, Andrea, Murtas, Corrado, Benoni, Simona, Izzi, Claudia, De March

Journal:

Kidney International

Year:

2012

Language:

english

File:

PDF, 621 KB

english, 2012

13

Fetal abdominal wall defects

Prefumo, Federico, Izzi, Claudia

Journal:

Best Practice & Research Clinical Obstetrics & Gynaecology

Year:

2014

Language:

english

File:

PDF, 697 KB

english, 2014

14

Thanatophoric dysplasia. Correlation among bone X-ray morphometry, histopathology, and gene analysis

Pazzaglia, Ugo E., Donzelli, Carla M., Izzi, Claudia, Baldi, Maurizia, Di Gaetano, Giuseppe, Bondioni, MariaPia

Journal:

Skeletal Radiology

Year:

2014

Language:

english

File:

PDF, 1.39 MB

english, 2014

15

Uromodulin: from monogenic to multifactorial diseases: FIGURE 1:

Scolari, Francesco, Izzi, Claudia, Ghiggeri, Gian Marco

Journal:

Nephrology Dialysis Transplantation

Year:

2015

Language:

english

File:

PDF, 238 KB

english, 2015

16

Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R

Savoldi, Gianfranco, Izzi, Claudia, Signorelli, Marino, Bondioni, Maria Pia, Romani, Chiara, Lanzi, Gaetana, Moratto, Daniele, Verdoni, Lucio, Pinotti, Moira, Prefumo, Federico, Superti-Furga, Andrea,

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 310 KB

english, 2013

17

Mutation Spectrum in RAB 3 GAP 1 , RAB 3 GAP 2 , and RAB 18 and Genotype-Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome

Handley, Mark T., Morris-Rosendahl, Deborah J., Brown, Stephen, Macdonald, Fiona, Hardy, Carol, Bem, Danai, Carpanini, Sarah M., Borck, Guntram, Martorell, Loreto, Izzi, Claudia, Faravelli, Francesca,

Journal:

Year:

2013

Language:

english

File:

PDF, 545 KB

english, 2013

18

The Case | Cystic renal disease, nephrogenic diabetes insipidus, and polycytemia

Izzi, Claudia, Dallera, Nadia, Manenti, Chiara, Caridi, Gianluca, Ghiggeri, GianMarco, Rampoldi, Luca, Scolari, Francesco

Journal:

Kidney International

Year:

2014

Language:

english

File:

PDF, 251 KB

english, 2014

19

The Case ∣ Familial occurrence of retinitis pigmentosa, deafness, and nephropathy

Izzi, Claudia, Maffei, Pietro, Milan, Gabriella, Tardanico, Regina, Foini, Paolo, Marshall, Jan, Marega, Alessandra, Scolari, Francesco

Journal:

Kidney International

Year:

2011

Language:

english

File:

PDF, 235 KB

english, 2011

20

Inflammaging and Cancer: A Challenge for the Mediterranean Diet

Ostan, Rita, Lanzarini, Catia, Pini, Elisa, Scurti, Maria, Vianello, Dario, Bertarelli, Claudia, Fabbri, Cristina, Izzi, Massimo, Palmas, Giustina, Biondi, Fiammetta, Martucci, Morena, Bellavista, Ele

Journal:

Year:

2015

Language:

english

File:

PDF, 545 KB

english, 2015

21

Tubulointerstitial nephritis is a dominant feature of hereditary apolipoprotein A-I amyloidosis

Gregorini, Gina, Izzi, Claudia, Ravani, Pietro, Obici, Laura, Dallera, Nadia, Del Barba, Andrea, Negrinelli, Alessandro, Tardanico, Regina, Nardi, Matilde, Biasi, Luciano, Scalvini, Tiziano, Merlini,

Journal:

Kidney International

Year:

2015

Language:

english

File:

PDF, 1.10 MB

english, 2015

22

Geographic Differences in Genetic Susceptibility to IgA Nephropathy: GWAS Replication Study and Geospatial Risk Analysis

Kiryluk, Krzysztof, Li, Yifu, Sanna-Cherchi, Simone, Rohanizadegan, Mersedeh, Suzuki, Hitoshi, Eitner, Frank, Snyder, Holly J., Choi, Murim, Hou, Ping, Scolari, Francesco, Izzi, Claudia, Gigante, Madd

Journal:

Year:

2012

Language:

english

File:

PDF, 1.24 MB

english, 2012

23

Interpreting mosaicism in chorionic villi: results of a monocentric series of 1001 mosaics in chorionic villi with follow-up amniocentesis

Malvestiti, Francesca, Agrati, Cristina, Grimi, Beatrice, Pompilii, Eva, Izzi, Claudia, Martinoni, Lorenza, Gaetani, Elisa, Liuti, Maria Rosaria, Trotta, Anna, Maggi, Federico, Simoni, Giuseppe, Grati

Journal:

Prenatal Diagnosis

Year:

2015

Language:

english

File:

PDF, 133 KB

english, 2015

24

Comparative X-ray morphometry of prenatal osteogenesis imperfecta type 2 and thanatophoric dysplasia: a contribution to prenatal differential diagnosis

Bondioni, Maria Pia, Pazzaglia, Ugo Ernesto, Izzi, Claudia, Di Gaetano, Giuseppe, Laffranchi, Francesco, Baldi, Maurizia, Prefumo, Federico

Journal:

La Radiologia Medica

Year:

2017

Language:

english

File:

PDF, 1.47 MB

english, 2017

25

Chromosomal Microarray and Fetal Growth Restriction

Prefumo, Federico, Fichera, Anna, Fratelli, Nicola, Izzi, Claudia

Journal:

Fetal Diagnosis and Therapy

Year:

2017

Language:

english

File:

PDF, 51 KB

english, 2017

26

Congenital Anomalies of the Kidney and the Urinary Tract (CAKUT)

Liut, Francesca, Izzi, Claudia, Dallera, Nadia, Scolari, Francesco

Journal:

Giornale di Tecniche Nefrologiche e Dialitiche

Year:

2016

File:

PDF, 207 KB

2016

27

Expanding the phenotype of MED 17 mutations: Description of two new cases and review of the literature

Agostini, Annalisa, Marchetti, Daniela, Izzi, Claudia, Cocco, Isabella, Pinelli, Lorenzo, Accorsi, Patrizia, Iascone Maria, Rosaria, Giordano, Lucio

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2018

Language:

english

File:

PDF, 658 KB

english, 2018

28

A new case report of severe mucopolysaccharidosis type VII: diagnosis, treatment with haematopoietic cell transplantation and prenatal diagnosis in a second pregnancy

Furlan, Francesca, Rovelli, Attilio, Rigoldi, Miriam, Filocamo, Mirella, Tappino, Barbara, Friday, Douglas, Gasperini, Serena, Mariani, Silvana, Izzi, Claudia, Bondioni, Maria Pia, Gellera, Cinzia, Ve

Journal:

Italian Journal of Pediatrics

Year:

2018

Language:

english

File:

PDF, 1.44 MB

english, 2018

29

Prenatal ultrasound diagnosis of cavitation of the ganglionic eminence

Prefumo, Federico, Petrilli, Giulia, Palumbo, Giovanni, Sartori, Enrico, Izzi, Claudia, Pinelli, Lorenzo

Journal:

Ultrasound in Obstetrics & Gynecology

Year:

2019

File:

PDF, 2.26 MB

2019

30

Prenatal findings in oral‐facial‐digital syndrome type VI: report of three cases and literature review

Dordoni, Chiara, Prefumo, Federico, Iascone, Maria, Pinelli, Lorenzo, Palumbo, Giovanni, Bondioni, Maria Pia, Savoldi, Gianfranco, Donzelli, Carla, Sartori, Enrico, Valente, Enza Maria, Izzi, Claudia

Journal:

Prenatal Diagnosis

Year:

2019

Language:

english

File:

PDF, 361 KB

english, 2019

31

Outcomes in pregnancies with a confined placental mosaicism and implications for prenatal screening using cell-free DNA

Grati, Francesca Romana, Ferreira, Jose, Benn, Peter, Izzi, Claudia, Verdi, Federica, Vercellotti, Elena, Dalpiaz, Cristina, D’Ajello, Patrizia, Filippi, Elisa, Volpe, Nicola, Malvestiti, Francesca, M

Journal:

Genetics in Medicine

Year:

2019

Language:

english

File:

PDF, 505 KB

english, 2019

32

Autosomal Dominant Tubulointerstitial Kidney Disease with Adult Onset due to a Novel Renin Mutation Mapping in the Mature Protein

Schaeffer, Céline, Izzi, Claudia, Vettori, Andrea, Pasqualetto, Elena, Cittaro, Davide, Lazarevic, Dejan, Caridi, Gianluca, Gnutti, Barbara, Mazza, Cinzia, Jovine, Luca, Scolari, Francesco, Rampoldi,

Journal:

Scientific Reports

Year:

2019

Language:

english

File:

PDF, 3.40 MB

english, 2019

33

Autosomal Dominant Tubulointerstitial Kidney Disease with Adult Onset due to a Novel Renin Mutation Mapping in the Mature Protein

Schaeffer, Céline, Izzi, Claudia, Vettori, Andrea, Pasqualetto, Elena, Cittaro, Davide, Lazarevic, Dejan, Caridi, Gianluca, Gnutti, Barbara, Mazza, Cinzia, Jovine, Luca, Scolari, Francesco, Rampoldi,

Journal:

Scientific Reports

Year:

2019

File:

PDF, 3.40 MB

2019

34

[IEEE 2019 IEEE 46th Photovoltaic Specialists Conference (PVSC) - Chicago, IL, USA (2019.6.16-2019.6.21)] 2019 IEEE 46th Photovoltaic Specialists Conference (PVSC) - Monolithic CZTS/Si tandem cells: development of multilayer structures for the intermediate contact

Malerba, Claudia, Valentini, Matteo, Izzi, Massimo, Serenelli, Luca, Salza, Enrico, Tucci, Mario, Mittiga, Alberto

Year:

2019

File:

PDF, 2.80 MB

2019

35

Testicular involvement is a hallmark of Apo A-I Leu75Pro mutation amyloidosis

Delbarba, Andrea, Facondo, Paolo, Fisogni, Simona, Izzi, Claudia, Maffezzoni, Filippo, Pezzaioli, Letizia Chiara, Di Lodovico, Elena, Facchetti, Fabio, Cappelli, Carlo, Scolari, Francesco, Ferlin, Alb

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2020

File:

PDF, 1.36 MB

2020

36

Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations

Kidd, Kendrah, Vyletâal, Petr, Schaeffer, CÃ©line, Olinger, Eric, Å½ivnÃ¡, Martina, HodaÅovÃ¡, KateÅina, Robins, Victoria, Johnson, Emily, Taylor, Abbigail, Martin, Lauren, Izzi, Claudia, Jorge, S

Journal:

Kidney International Reports

Year:

2020

File:

PDF, 1.23 MB

2020

37

Outcomes in Pregnancies With a Confined Placental Mosaicism and Implications for Prenatal Screening Using Cell-Free DNA

Grati, Francesca Romana, Ferreira, Jose, Benn, Peter, Izzi, Claudia, Verdi, Federica, Vercellotti, Elena, Dalpiaz, Cristina, DâAjello, Patrizia, Filippi, Elisa, Volpe, Nicola, Malvestiti, Francesca,

Journal:

Obstetric and Gynecologic Survey

Year:

2020

File:

PDF, 104 KB

2020

38

Variable Expressivity of HNF1B-Nephropathy From Renal Cysts and Diabetes to Medullary Sponge Kidney through Tubulo-Interstitial Kidney Disease.

IZZI, Claudia, DORDONI, Chiara, ECONIMO, Laura, DELBARBA, Elisa, Romana GRATI, Francesca, MARTIN, Eva, MAZZA, Cinzia, SAVOLDI, Gianfranco, RAMPOLDI, Luca, ALBERICI, Federico, SCOLARI, Francesco

Journal:

Kidney International Reports

Year:

2020

File:

PDF, 14.92 MB

2020

39

P0057ADPKD: COMPLEX GENOTYPES MAY EXPLAIN SEVERE PHENOTYPE AND INTRAFAMILIAL PHENOTYPIC VARIABILITY

Izzi, Claudia, Delbarba, Elisa, Econimo, Laura, Dordoni, Chiara, Savoldi, Gianfranco, Mazza, Cinzia, Dallera, Nadia, Scolari, Francesco

Journal:

Nephrology Dialysis Transplantation

Year:

2020

File:

PDF, 118 KB

2020

40

P0074EXPANDING THE VARIABILITY OF THE ADPKD-GANAB CLINICAL PHENOTYPE: A NEW FAMILY OF ITALIAN ANCESTRY

Delbarba, Elisa, Econimo, Laura, Dordoni, Chiara, Martin, Eva, Gnutti, Barbara, Savoldi, Gianfranco, Mazza, Cinzia, Dallera, Nadia, Scolari, Francesco, Izzi, Claudia

Journal:

Nephrology Dialysis Transplantation

Year:

2020

File:

PDF, 104 KB

2020