检索结果 - Simone Sanna‐Cherchi

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  1. 1
    Genetic basis of human congenital anomalies of the kidney and urinary tract

    Genetic basis of human congenital anomalies of the kidney and urinary tract 由 Simone Sanna‐Cherchi, Rik Westland, Gian Marco Ghiggeri, Ali G. Gharavi

    出版 2018
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  2. 2
    HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort

    HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort 由 Rosemary Thomas, Simone Sanna‐Cherchi, Bradley A. Warady, Susan L. Furth, Frederick J. Kaskel, Ali G. Gharavi

    出版 2011
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  3. 3
    Clinical Implications of the Solitary Functioning Kidney

    Clinical Implications of the Solitary Functioning Kidney 由 Rik Westland, Michiel F. Schreuder, Johannes B. van Goudoever, Simone Sanna‐Cherchi, J. A. E. van Wijk

    出版 2013
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  4. 4
    A Novel <i>SUCLA2</i> Mutation Presenting as a Complex Childhood Movement Disorder

    A Novel <i>SUCLA2</i> Mutation Presenting as a Complex Childhood Movement Disorder 由 Caterina Garone, Juliana Gurgel‐Giannetti, Simone Sanna‐Cherchi, Sindu Krishna, Ali Naini, Catarina M. Quinzii, Michio Hirano

    出版 2016
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  5. 5
    Genetic approaches to human renal agenesis/hypoplasia and dysplasia

    Genetic approaches to human renal agenesis/hypoplasia and dysplasia 由 Simone Sanna‐Cherchi, Gianluca Caridi, Patricia L. Weng, Francesco Scolari, Francesco Perfumo, Ali G. Gharavi, Gian Marco Ghiggeri

    出版 2007
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  6. 6
    APOL1 genotyping is incomplete without testing for the protective M1 modifier p.N264K variant

    APOL1 genotyping is incomplete without testing for the protective M1 modifier p.N264K variant 由 Rasheed Gbadegesin, Elena Martinelli, Yask Gupta, David J. Friedman, Matthew G. Sampson, Martin R. Pollak, Simone Sanna‐Cherchi

    出版 2024
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  7. 7
    Impact of diet and host genetics on the murine intestinal mycobiome

    Impact of diet and host genetics on the murine intestinal mycobiome 由 Yask Gupta, Anna Lara Ernst, Artem Vorobyev, Foteini Beltsiou, Detlef Zillikens, Katja Bieber, Simone Sanna‐Cherchi, Angela M. Christiano, Christian D. Sadik, Ralf J. Ludwig, Tanya Sezin

    出版 2023
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  8. 8
    Phenotypic Expansion of DGKE-Associated Diseases

    Phenotypic Expansion of DGKE-Associated Diseases 由 Rik Westland, Monica Bodria, Alba Carrea, Sneh Lata, Francesco Scolari, Véronique Frémeaux‐Bacchi, Vivette D. D’Agati, Richard P. Lifton, Ali G. Gharavi, Gian Marco Ghiggeri, Simone Sanna‐Cherchi

    出版 2014
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  9. 9
    Genomic imbalances in pediatric patients with chronic kidney disease

    Genomic imbalances in pediatric patients with chronic kidney disease 由 Miguel Verbitsky, Simone Sanna‐Cherchi, David Fasel, Brynn Levy, Krzysztof Kiryluk, Matthias Wuttke, Alison G. Abraham, Frederick J. Kaskel, Anna Köttgen, Bradley A. Warady, Susan L. Furth, Craig S. Wong, Ali G. Gharavi

    出版 2015
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  10. 10
    Renal outcome in patients with congenital anomalies of the kidney and urinary tract

    Renal outcome in patients with congenital anomalies of the kidney and urinary tract 由 Simone Sanna‐Cherchi, Pietro Ravani, Valentina Corbani, Stefano Parodi, Riccardo Haupt, Giorgio Piaggio, Maria L Degli Innocenti, Danio Somenzi, Antonella Trivelli, Gianluca Caridi, Claudia Izzi, Francesco Scolari, Girolamo Mattioli, Landino Allegri, Gian Marco Ghiggeri

    出版 2009
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  11. 11
    Scara5 Is a Ferritin Receptor Mediating Non-Transferrin Iron Delivery

    Scara5 Is a Ferritin Receptor Mediating Non-Transferrin Iron Delivery 由 Jau Yi Li, Neal Paragas, Renée M. Ned, Andong Qiu, Mélanie Viltard, Thomas Leete, Ian R. Drexler, Xia Chen, Simone Sanna‐Cherchi, Farah Mohammed, David Y. Williams, Chyuan Sheng Lin, Kai M. Schmidt‐Ott, Nancy C. Andrews, Jonathan Barasch

    出版 2009
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  12. 12
    Infantile Encephaloneuromyopathy and Defective Mitochondrial Translation Are Due to a Homozygous RMND1 Mutation

    Infantile Encephaloneuromyopathy and Defective Mitochondrial Translation Are Due to a Homozygous RMND1 Mutation 由 Beatriz García-Díaz, Mário H. Barros, Simone Sanna‐Cherchi, Valentina Emmanuele, Hasan O. Akman, Claudia Cristina Ferreiro-Barros, Rita Horváth, Saba Tadesse, Nader El Gharaby, Salvatore DiMauro, Darryl C. De Vivo, Aly Shokr, Michio Hirano, Catarina M. Quinzii

    出版 2012
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  13. 13
    Copy number variation analysis identifies novel CAKUT candidate genes in children with a solitary functioning kidney

    Copy number variation analysis identifies novel CAKUT candidate genes in children with a solitary functioning kidney 由 Rik Westland, Miguel Verbitsky, Katarina Vukojević, Brittany J. Perry, David Fasel, Petra Zwijnenburg, Arend Bökenkamp, Gilles Thomas, Mirna Saraga‐Babić, Gian Marco Ghiggeri, Vivette D. D’Agati, Michiel F. Schreuder, Ali G. Gharavi, J. A. E. van Wijk, Simone Sanna‐Cherchi

    出版 2015
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  14. 14
    Isolated polycystic liver disease genes define effectors of polycystin-1 function

    Isolated polycystic liver disease genes define effectors of polycystin-1 function 由 Whitney Besse, Ke Dong, Jungmin Choi, Sohan Punia, Sorin V. Fedeles, Murim Choi, Anna‐Rachel Gallagher, Emily Huang, Ashima Gulati, James Knight, Shrikant Mane, Esa Tahvanainen, Pia Tahvanainen, Simone Sanna‐Cherchi, Richard P. Lifton, Terry Watnick, York Pei, Vicente E. Torres, Stefan Somlo

    出版 2017
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  15. 15
    Isolated polycystic liver disease genes define effectors of polycystin-1 function

    Isolated polycystic liver disease genes define effectors of polycystin-1 function 由 Whitney Besse, Ke Dong, Jungmin Choi, Sohan Punia, Sorin V. Fedeles, Murim Choi, Anna‐Rachel Gallagher, Emily Huang, Ashima Gulati, James Knight, Shrikant Mane, Esa Tahvanainen, Pia Tahvanainen, Simone Sanna‐Cherchi, Richard P. Lifton, Terry Watnick, York Pei, Vicente E. Torres, Stefan Somlo

    出版 2017
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  16. 16
    Exome-Based Rare-Variant Analyses in CKD

    Exome-Based Rare-Variant Analyses in CKD 由 Sophia Cameron‐Christie, Charles J. Wolock, Emily Groopman, Slavé Petrovski, Sitharthan Kamalakaran, Gundula Povysil, Dimitrios Vitsios, Mengqi Zhang, Jan Fleckner, Ruth March, Sahar Gelfman, Maddalena Marasà, Yifu Li, Simone Sanna‐Cherchi, Krzysztof Kiryluk, Andrew S. Allen, Bengt Fellström, Carolina Haefliger, Adam Platt, David B. Goldstein, Ali G. Gharavi

    出版 2019
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  17. 17
    Exome sequencing identified MYO1E and NEIL1 as candidate genes for human autosomal recessive steroid-resistant nephrotic syndrome

    Exome sequencing identified MYO1E and NEIL1 as candidate genes for human autosomal recessive steroid-resistant nephrotic syndrome 由 Simone Sanna‐Cherchi, Katelyn E. Burgess, Shannon N. Nees, Gianluca Caridi, Patricia L. Weng, Monica Dagnino, Monica Bodria, Alba Carrea, Maddalena Allegretta, Hyunjae R. Kim, Brittany J. Perry, Maddalena Gigante, Lorraine N. Clark, Sergey Kisselev, Daniele Cusi, Loreto Gesualdo, Landino Allegri, Francesco Scolari, Vivette D. D’Agati, Lawrence Shapiro, Carmine Pecoraro, Teresa Palomero, Gian Marco Ghiggeri, Ali G. Gharavi

    出版 2011
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  18. 18
    A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling

    A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling 由 Asaf Vivante, Nina Mann, Hagith Yonath, Anna-Carina Weiss, Maike Getwan, Michael M. Kaminski, Tobias Bohnenpoll, Catherine Teyssier, Jing Chen, Shirlee Shril, Amelie T. van der Ven, Hadas Ityel, Johanna Magdalena Schmidt, Eugen Widmeier, Stuart B. Bauer, Simone Sanna‐Cherchi, Ali G. Gharavi, Lu W, Daniella Magen, Rachel Shukrun, Richard P. Lifton, Velibor Tasić, Horia Stanescu, Vincent Cavaillès, Robert Kleta, Yair Anikster, Benjamin Dekel, Andreas Kispert, Soeren S. Lienkamp, Friedhelm Hildebrandt

    出版 2017
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  19. 19
    α–Intercalated cells defend the urinary system from bacterial infection

    α–Intercalated cells defend the urinary system from bacterial infection 由 Neal Paragas, Ritwij Kulkarni, Max Werth, Kai M. Schmidt‐Ott, Catherine S. Forster, Rong Deng, Qingyin Zhang, Eugenia Singer, Alexander D. Klose, Tian Shen, Kevin P. Francis, Sunetra Ray, Soundarapandian Vijayakumar, Samuel L. Seward, Mary E. Bovino, Katherine Xu, Yared Takabe, Fábio E. Amaral, Sumit Mohan, Rebecca Wax, Kaitlyn Corbin, Simone Sanna‐Cherchi, Kiyoshi Mori, Lynne Johnson, Thomas L. Nickolas, Vivette D. D’Agati, Chyuan‐Sheng Lin, Andong Qiu, Qais Al‐Awqati, Adam J. Ratner, Jonathan Barasch

    出版 2014
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  20. 20
    Whole-Exome Sequencing in Adults With Chronic Kidney Disease

    Whole-Exome Sequencing in Adults With Chronic Kidney Disease 由 Sneh Lata, Maddalena Marasà, Yifu Li, David Fasel, Emily Groopman, Vaidehi Jobanputra, Hila Milo Rasouly, Adele Mitrotti, Rik Westland, Miguel Verbitsky, Jordan G. Nestor, Lindsey M. Slater, Vivette D. D’Agati, Marcin Zaniew, Anna Materna‐Kiryluk, Francesca Lugani, Gianluca Caridi, Luca Rampoldi, Aditya Mattoo, Chad A. Newton, Maya K. Rao, Jai Radhakrishnan, Wooin Ahn, Pietro A. Canetta, Andrew S. Bomback, Gerald B. Appel, Corinne Antignac, Glen S. Markowitz, Christine Kim Garcia, Krzysztof Kiryluk, Simone Sanna‐Cherchi, Ali G. Gharavi

    出版 2017
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