COVID-19 infection and the kidneys: Learning the lesson

por Soliman, Neveen A.
Publicado 2021

Primary hyperoxaluria type 1 in developing countries: novel challenges in a new therapeutic era

por Soliman, Neveen A, Mabrouk, Sameh
Publicado 2022

Newborn Screening: Review of its Impact for Cystinosis

por Hohenfellner, Katharina, Elenberg, Ewa, Ariceta, Gema, Nesterova, Galina, Soliman, Neveen A., Topaloglu, Rezan
Publicado 2022

Cystinosis: a review

por Elmonem, Mohamed A., Veys, Koenraad R., Soliman, Neveen A., van Dyck, Maria, van den Heuvel, Lambertus P., Levtchenko, Elena
Publicado 2016

Clinical and molecular characterization of primary hyperoxaluria in Egypt

por Soliman, Neveen A., Elmonem, Mohamed A., Abdelrahman, Safaa M., Nabhan, Marwa M., Fahmy, Yosra A., Cogal, Andrea, Harris, Peter C., Milliner, Dawn S.
Publicado 2022

ADPedKD: A Global Online Platform on the Management of Children With ADPKD

por De Rechter, Stéphanie, Bockenhauer, Detlef, Guay-Woodford, Lisa M., Liu, Isaac, Mallett, Andrew J., Soliman, Neveen A., Sylvestre, Lucimary C., Schaefer, Franz, Liebau, Max C., Mekahli, Djalila
Publicado 2019

Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract

por Hwang, Daw-Yang, Dworschak, Gabriel C., Kohl, Stefan, Saisawat, Pawaree, Vivante, Asaf, Hilger, Alina C., Reutter, Heiko M., Soliman, Neveen A., Bogdanovic, Radovan, Kehinde, Elijah O., Tasic, Velibor, Hildebrandt, Friedhelm
Publicado 2014

Clinical utility of chitotriosidase enzyme activity in nephropathic cystinosis

por Elmonem, Mohamed A, Makar, Samuel H, van den Heuvel, Lambertus, Abdelaziz, Hanan, Abdelrahman, Safaa M, Bossuyt, Xavier, Janssen, Mirian C, Cornelissen, Elisabeth AM, Lefeber, Dirk J, Joosten, Leo AB, Nabhan, Marwa M, Arcolino, Fanny O, Hassan, Fayza A, Gaide Chevronnay, Héloïse P, Soliman, Neveen A, Levtchenko, Elena
Publicado 2014

Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity

por Braun, Daniela A., Schueler, Markus, Halbritter, Jan, Gee, Heon Yung, Porath, Jonathan D., Lawson, Jennifer A., Airik, Rannar, Shril, Shirlee, Allen, Susan J., Stein, Deborah, Al Kindy, Adila, Beck, Bodo B., Cengiz, Nurcan, Moorani, Khemchand N., Ozaltin, Fatih, Hashmi, Seema, Sayer, John A., Bockenhauer, Detlef, Soliman, Neveen A., Otto, Edgar A., Lifton, Richard P., Hildebrandt, Friedhelm
Publicado 2016

Comprehensive Genetic Analysis Reveals Complexity of Monogenic Urinary Stone Disease

por Cogal, Andrea G., Arroyo, Jennifer, Shah, Ronak Jagdeep, Reese, Kalina J., Walton, Brenna N., Reynolds, Laura M., Kennedy, Gabrielle N., Seide, Barbara M., Senum, Sarah R., Baum, Michelle, Erickson, Stephen B., Jagadeesh, Sujatha, Soliman, Neveen A., Goldfarb, David S., Beara-Lasic, Lada, Edvardsson, Vidar O., Palsson, Runolfur, Milliner, Dawn S., Sas, David J., Lieske, John C., Harris, Peter C.
Publicado 2021

Management of bone disease in cystinosis: Statement from an international conference

por Hohenfellner, Katharina, Rauch, Frank, Ariceta, Gema, Awan, Atif, Bacchetta, Justine, Bergmann, Carsten, Bechtold, Susanne, Cassidy, Noelle, Deschenes, Geroges, Elenberg, Ewa, Gahl, William A., Greil, Oliver, Harms, Erik, Herzig, Nadine, Hoppe, Bernd, Koeppl, Christian, Lewis, Malcolm A., Levtchenko, Elena, Nesterova, Galina, Santos, Fernando, Schlingmann, Karl P., Servais, Aude, Soliman, Neveen A., Steidle, Guenther, Sweeney, Clodagh, Treikauskas, Ulrike, Topaloglu, Rezan, Tsygin, Alexey, Veys, Koenraad, v. Vigier, Rodo, Zustin, Jozef, Haffner, Dieter
Publicado 2019

Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary Tract

por Wu, Chen-Han Wilfred, Lim, Tze Y., Wang, Chunyan, Seltzsam, Steve, Zheng, Bixia, Schierbaum, Luca, Schneider, Sophia, Mann, Nina, Connaughton, Dervla M., Nakayama, Makiko, van der Ven, Amelie T., Dai, Rufeng, Kolvenbach, Caroline M., Kause, Franziska, Ottlewski, Isabel, Stajic, Natasa, Soliman, Neveen A., Kari, Jameela A., El Desoky, Sherif, Fathy, Hanan M., Milosevic, Danko, Turudic, Daniel, Al Saffar, Muna, Awad, Hazem S., Eid, Loai A., Ramanathan, Aravind, Senguttuvan, Prabha, Mane, Shrikant M., Lee, Richard S., Bauer, Stuart B., Lu, Weining, Hilger, Alina C., Tasic, Velibor, Shril, Shirlee, Sanna-Cherchi, Simone, Hildebrandt, Friedhelm
Publicado 2022

FAT1 mutations cause a glomerulotubular nephropathy

por Gee, Heon Yung, Sadowski, Carolin E., Aggarwal, Pardeep K., Porath, Jonathan D., Yakulov, Toma A., Schueler, Markus, Lovric, Svjetlana, Ashraf, Shazia, Braun, Daniela A., Halbritter, Jan, Fang, Humphrey, Airik, Rannar, Vega-Warner, Virginia, Cho, Kyeong Jee, Chan, Timothy A., Morris, Luc G. T., ffrench-Constant, Charles, Allen, Nicholas, McNeill, Helen, Büscher, Rainer, Kyrieleis, Henriette, Wallot, Michael, Gaspert, Ariana, Kistler, Thomas, Milford, David V., Saleem, Moin A., Keng, Wee Teik, Alexander, Stephen I., Valentini, Rudolph P., Licht, Christoph, Teh, Jun C., Bogdanovic, Radovan, Koziell, Ania, Bierzynska, Agnieszka, Soliman, Neveen A., Otto, Edgar A., Lifton, Richard P., Holzman, Lawrence B., Sibinga, Nicholas E. S., Walz, Gerd, Tufro, Alda, Hildebrandt, Friedhelm
Publicado 2016

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

por Davis, Erica E., Zhang, Qi, Liu, Qin, Diplas, Bill H., Davey, Lisa M., Hartley, Jane, Stoetzel, Corinne, Szymanska, Katarzyna, Ramaswami, Gokul, Logan, Clare V., Muzny, Donna M., Young, Alice C., Wheeler, David A., Cruz, Pedro, Morgan, Margaret, Lewis, Lora R., Cherukuri, Praveen, Maskeri, Baishali, Hansen, Nancy F., Mullikin, James C., Blakesley, Robert W., Bouffard, Gerard G., Gyapay, Gabor, Reiger, Susanne, Tönshoff, Burkhard, Kern, Ilse, Soliman, Neveen A., Neuhaus, Thomas J., Swoboda, Kathryn J., Kayserili, Hulya, Gallagher, Tomas E., Lewis, Richard A., Bergmann, Carsten, Otto, Edgar A., Saunier, Sophie, Scambler, Peter J., Beales, Philip L., Gleeson, Joseph G., Maher, Eamonn R., Attié-Bitach, Tania, Dollfus, Hélène, Johnson, Colin A., Green, Eric D., Gibbs, Richard A., Hildebrandt, Friedhelm, Pierce, Eric A., Katsanis, Nicholas
Publicado 2011

Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment

por Ashraf, Shazia, Kudo, Hiroki, Rao, Jia, Kikuchi, Atsuo, Widmeier, Eugen, Lawson, Jennifer A., Tan, Weizhen, Hermle, Tobias, Warejko, Jillian K., Shril, Shirlee, Airik, Merlin, Jobst-Schwan, Tilman, Lovric, Svjetlana, Braun, Daniela A., Gee, Heon Yung, Schapiro, David, Majmundar, Amar J., Sadowski, Carolin E., Pabst, Werner L., Daga, Ankana, van der Ven, Amelie T., Schmidt, Johanna M., Low, Boon Chuan, Gupta, Anjali Bansal, Tripathi, Brajendra K., Wong, Jenny, Campbell, Kirk, Metcalfe, Kay, Schanze, Denny, Niihori, Tetsuya, Kaito, Hiroshi, Nozu, Kandai, Tsukaguchi, Hiroyasu, Tanaka, Ryojiro, Hamahira, Kiyoshi, Kobayashi, Yasuko, Takizawa, Takumi, Funayama, Ryo, Nakayama, Keiko, Aoki, Yoko, Kumagai, Naonori, Iijima, Kazumoto, Fehrenbach, Henry, Kari, Jameela A., El Desoky, Sherif, Jalalah, Sawsan, Bogdanovic, Radovan, Stajić, Nataša, Zappel, Hildegard, Rakhmetova, Assel, Wassmer, Sharon-Rose, Jungraithmayr, Therese, Strehlau, Juergen, Kumar, Aravind Selvin, Bagga, Arvind, Soliman, Neveen A., Mane, Shrikant M., Kaufman, Lewis, Lowy, Douglas R., Jairajpuri, Mohamad A., Lifton, Richard P., Pei, York, Zenker, Martin, Kure, Shigeo, Hildebrandt, Friedhelm
Publicado 2018