Outcome of Multi-Cystic Dysplastic Kidneys in Children

Por Mashat, Suleiman D., El-Desoky, Sherif M., Abdulaziz Kari, Jameela
Publicado no Iran J Pediatr (2015)

Sterile Peritonitis with High-Dose Amino Acid–Containing Peritoneal Dialysis Solution in Children

Por Kari, Jameela A., El-Desoky, Sherif, Abuduhair, Al-Anoud, Habib, Hamid
Publicado em 2012

Vesicoureteric reflux in children

Por Kari, Jameela A, El-Desoky, Sherif M, Basnawi, Faten, Bahrawi, Ohood
Publicado em 2013

Simultaneous onset of steroid resistant nephrotic syndrome and IDDM in two young children

Por Kari, Jameela A, El-Desoky, Sherif M, Mokhtar, Ghadeer, Jalalah, Sawsan M
Publicado em 2010

Vitamin D insufficiency and deficiency in children with chronic kidney disease

Por Kari, Jameela Abdulaziz, El Desoky, Sherif Mohamed, El-Morshedy, Salah Mohamed, Habib, Hamid Saed
Publicado no Ann Saudi Med (2012)

Etiology, ethics, and outcomes of chronic kidney disease in neonates

Por Kari, Jameela A., Sharief, Sara N., El-Desoky, Sherif M., Alhasan, Khalid A., Albanna, Amr S.
Publicado no Saudi Med J (2018)

A Rare Benign Tumor in a 14-Year-Old Girl

Por Abualjadayel, Meral Hassan, Safdar, Osama Y., Banjari, Maysaa Adnan, El Desoky, Sherif, Mokhtar, Ghadeer A., Azhar, Raed A.
Publicado no Case Rep Nephrol (2018)

Steroid-resistant nephrotic syndrome: impact of genetic testing

Por Kari, Jameela A., El-Desoky, Sherif M., Gari, Mamdooh, Malik, Khalid, Vega-Warner, Virginia, Lovric, Svjetlana, Bockenhauer, Detlef
Publicado no Ann Saudi Med (2013)

A case of urinary bladder agenesis and bilateral ectopic ureters: a case report

Por Nazer, Iman Ibrahim, Alhashmi, Ghufran, Sharief, Sara Nawfal, Hefni, Nada Abdullatif, Ibrahim, Abdulrahman, El-Desoky, Sherif M, Alsayyad, Ahmed Jalal, Safdar, Osama Yousef, Kari, Jameela A
Publicado no BMC Urol (2018)

A Single-Gene Cause in 29.5% of Cases of Steroid-Resistant Nephrotic Syndrome

Por Sadowski, Carolin E., Lovric, Svjetlana, Ashraf, Shazia, Pabst, Werner L., Gee, Heon Yung, Kohl, Stefan, Engelmann, Susanne, Vega-Warner, Virginia, Fang, Humphrey, Halbritter, Jan, Somers, Michael J., Tan, Weizhen, Shril, Shirlee, Fessi, Inès, Lifton, Richard P., Bockenhauer, Detlef, El-Desoky, Sherif, Kari, Jameela A., Zenker, Martin, Kemper, Markus J., Mueller, Dominik, Fathy, Hanan M., Soliman, Neveen A., Hildebrandt, Friedhelm
Publicado no J Am Soc Nephrol (2015)

Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome

Por Braun, Daniela A, Warejko, Jillian K, Ashraf, Shazia, Tan, Weizhen, Daga, Ankana, Schneider, Ronen, Hermle, Tobias, Jobst-Schwan, Tilman, Widmeier, Eugen, Majmundar, Amar J, Nakayama, Makiko, Schapiro, David, Rao, Jia, Schmidt, Johanna Magdalena, Hoogstraten, Charlotte A, Hugo, Hannah, Bakkaloglu, Sevcan A, Kari, Jameela A, El Desoky, Sherif, Daouk, Ghaleb, Mane, Shrikant, Lifton, Richard P, Shril, Shirlee, Hildebrandt, Friedhelm
Publicado no Nephrol Dial Transplant (2019)

GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic Syndrome

Por Hermle, Tobias, Schneider, Ronen, Schapiro, David, Braun, Daniela A., van der Ven, Amelie T., Warejko, Jillian K., Daga, Ankana, Widmeier, Eugen, Nakayama, Makiko, Jobst-Schwan, Tilman, Majmundar, Amar J., Ashraf, Shazia, Rao, Jia, Finn, Laura S., Tasic, Velibor, Hernandez, Joel D., Bagga, Arvind, Jalalah, Sawsan M., El Desoky, Sherif, Kari, Jameela A., Laricchia, Kristen M., Lek, Monkol, Rehm, Heidi L., MacArthur, Daniel G., Mane, Shrikant, Lifton, Richard P., Shril, Shirlee, Hildebrandt, Friedhelm
Publicado no J Am Soc Nephrol (2018)

CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations

Por Mann, Nina, Kause, Franziska, Henze, Erik K., Gharpure, Anant, Shril, Shirlee, Connaughton, Dervla M., Nakayama, Makiko, Klämbt, Verena, Majmundar, Amar J., Wu, Chen-Han W., Kolvenbach, Caroline M., Dai, Rufeng, Chen, Jing, van der Ven, Amelie T., Ityel, Hadas, Tooley, Madeleine J., Kari, Jameela A., Bownass, Lucy, El Desoky, Sherif, De Franco, Elisa, Shalaby, Mohamed, Tasic, Velibor, Bauer, Stuart B., Lee, Richard S., Beckel, Jonathan M., Yu, Weiqun, Mane, Shrikant M., Lifton, Richard P., Reutter, Heiko, Ellard, Sian, Hibbs, Ryan E., Kawate, Toshimitsu, Hildebrandt, Friedhelm
Publicado no Am J Hum Genet (2019)

Advillin acts upstream of phospholipase C ϵ1 in steroid-resistant nephrotic syndrome

Por Rao, Jia, Ashraf, Shazia, Tan, Weizhen, van der Ven, Amelie T., Gee, Heon Yung, Braun, Daniela A., Fehér, Krisztina, George, Sudeep P., Esmaeilniakooshkghazi, Amin, Choi, Won-Il, Jobst-Schwan, Tilman, Schneider, Ronen, Schmidt, Johanna Magdalena, Widmeier, Eugen, Warejko, Jillian K., Hermle, Tobias, Schapiro, David, Lovric, Svjetlana, Shril, Shirlee, Daga, Ankana, Nayir, Ahmet, Shenoy, Mohan, Tse, Yincent, Bald, Martin, Helmchen, Udo, Mir, Sevgi, Berdeli, Afig, Kari, Jameela A., El Desoky, Sherif, Soliman, Neveen A., Bagga, Arvind, Mane, Shrikant, Jairajpuri, Mohamad A., Lifton, Richard P., Khurana, Seema, Martins, Jose C., Hildebrandt, Friedhelm
Publicado no J Clin Invest (2017)

Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis

Por Daga, Ankana, Majmundar, Amar J., Braun, Daniela A., Gee, Heon Yung, Lawson, Jennifer A., Shril, Shirlee, Jobst-Schwan, Tilman, Vivante, Asaf, Schapiro, David, Tan, Weizhen, Warejko, Jillian K., Widmeier, Eugen, Nelson, Caleb P., Fathy, Hanan M., Gucev, Zoran, Soliman, Neveen A., Hashmi, Seema, Halbritter, Jan, Halty, Margarita, Kari, Jameela, El-Desoky, Sherif, Ferguson, Michael A., Somers, Michael J.G., Traum, Avram Z., Stein, Deborah R., Daouk, Ghaleb H., Rodig, Nancy M., Katz, Avi, Hanna, Christian, Schwaderer, Andrew L., Sayer, John A., Wassner, Ari J., Mane, Shrikant, Lifton, Richard P., Milosevic, Danko, Tasic, Velibor, Baum, Michelle A., Hildebrandt, Friedhelm
Publicado no Kidney Int (2017)

ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ(10) biosynthesis disruption

Por Ashraf, Shazia, Gee, Heon Yung, Woerner, Stephanie, Xie, Letian X., Vega-Warner, Virginia, Lovric, Svjetlana, Fang, Humphrey, Song, Xuewen, Cattran, Daniel C., Avila-Casado, Carmen, Paterson, Andrew D., Nitschké, Patrick, Bole-Feysot, Christine, Cochat, Pierre, Esteve-Rudd, Julian, Haberberger, Birgit, Allen, Susan J., Zhou, Weibin, Airik, Rannar, Otto, Edgar A., Barua, Moumita, Al-Hamed, Mohamed H., Kari, Jameela A., Evans, Jonathan, Bierzynska, Agnieszka, Saleem, Moin A., Böckenhauer, Detlef, Kleta, Robert, El Desoky, Sherif, Hacihamdioglu, Duygu O., Gok, Faysal, Washburn, Joseph, Wiggins, Roger C., Choi, Murim, Lifton, Richard P., Levy, Shawn, Han, Zhe, Salviati, Leonardo, Prokisch, Holger, Williams, David S., Pollak, Martin, Clarke, Catherine F., Pei, York, Antignac, Corinne, Hildebrandt, Friedhelm
Publicado em 2013

Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome

Por Warejko, Jillian K., Tan, Weizhen, Daga, Ankana, Schapiro, David, Lawson, Jennifer A., Shril, Shirlee, Lovric, Svjetlana, Ashraf, Shazia, Rao, Jia, Hermle, Tobias, Jobst-Schwan, Tilman, Widmeier, Eugen, Majmundar, Amar J., Schneider, Ronen, Gee, Heon Yung, Schmidt, J. Magdalena, Vivante, Asaf, van der Ven, Amelie T., Ityel, Hadas, Chen, Jing, Sadowski, Carolin E., Kohl, Stefan, Pabst, Werner L., Nakayama, Makiko, Somers, Michael J.G., Rodig, Nancy M., Daouk, Ghaleb, Baum, Michelle, Stein, Deborah R., Ferguson, Michael A., Traum, Avram Z., Soliman, Neveen A., Kari, Jameela A., El Desoky, Sherif, Fathy, Hanan, Zenker, Martin, Bakkaloglu, Sevcan A., Müller, Dominik, Noyan, Aytul, Ozaltin, Fatih, Cadnapaphornchai, Melissa A., Hashmi, Seema, Hopcian, Jeffrey, Kopp, Jeffrey B., Benador, Nadine, Bockenhauer, Detlef, Bogdanovic, Radovan, Stajić, Nataša, Chernin, Gil, Ettenger, Robert, Fehrenbach, Henry, Kemper, Markus, Munarriz, Reyner Loza, Podracka, Ludmila, Büscher, Rainer, Serdaroglu, Erkin, Tasic, Velibor, Mane, Shrikant, Lifton, Richard P., Braun, Daniela A., Hildebrandt, Friedhelm
Publicado no Clin J Am Soc Nephrol (2018)

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 no Nat Commun (2018)

Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract

Por van der Ven, Amelie T., Connaughton, Dervla M., Ityel, Hadas, Mann, Nina, Nakayama, Makiko, Chen, Jing, Vivante, Asaf, Hwang, Daw-yang, Schulz, Julian, Braun, Daniela A., Schmidt, Johanna Magdalena, Schapiro, David, Schneider, Ronen, Warejko, Jillian K., Daga, Ankana, Majmundar, Amar J., Tan, Weizhen, Jobst-Schwan, Tilman, Hermle, Tobias, Widmeier, Eugen, Ashraf, Shazia, Amar, Ali, Hoogstraaten, Charlotte A., Hugo, Hannah, Kitzler, Thomas M., Kause, Franziska, Kolvenbach, Caroline M., Dai, Rufeng, Spaneas, Leslie, Amann, Kassaundra, Stein, Deborah R., Baum, Michelle A., Somers, Michael J.G., Rodig, Nancy M., Ferguson, Michael A., Traum, Avram Z., Daouk, Ghaleb H., Bogdanović, Radovan, Stajić, Natasa, Soliman, Neveen A., Kari, Jameela A., El Desoky, Sherif, Fathy, Hanan M., Milosevic, Danko, Al-Saffar, Muna, Awad, Hazem S., Eid, Loai A., Selvin, Aravind, Senguttuvan, Prabha, Sanna-Cherchi, Simone, Rehm, Heidi L., MacArthur, Daniel G., Lek, Monkol, Laricchia, Kristen M., Wilson, Michael W., Mane, Shrikant M., Lifton, Richard P., Lee, Richard S., Bauer, Stuart B., Lu, Weining, Reutter, Heiko M., Tasic, Velibor, Shril, Shirlee, Hildebrandt, Friedhelm
Publicado no J Am Soc Nephrol (2018)