Genetic Contributions to Lower Urinary Tract Dysfunction
Hiltebeitel, Lilian R, Seltzsam, Steve, Wang, Chunyan, Lee, Ted, Bolsius, Leah, Shalaby, Mohamed, El Desoky, Sherif, Kari, Jameela A, Shril, Shirlee, Hildebrandt, Friedhelm, Mann, Nina
Published in American journal of medical genetics. Part A (04.09.2024)
Published in American journal of medical genetics. Part A (04.09.2024)
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Journal Article
HLA-DQA1 and APOL1 as Risk Loci for Childhood-Onset Steroid-Sensitive and Steroid-Resistant Nephrotic Syndrome
Adeyemo, Adebowale, Esezobor, Christopher, Solarin, Adaobi, Abeyagunawardena, Asiri, Kari, Jameela A., El Desoky, Sherif, Greenbaum, Larry A., Kamel, Margret, Kallash, Mahmoud, Silva, Cynthia, Young, Alex, Hunley, Tracey E., de Jesus-Gonzalez, Nilka, Srivastava, Tarak, Gbadegesin, Rasheed
Published in American journal of kidney diseases (01.03.2018)
Published in American journal of kidney diseases (01.03.2018)
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Journal Article
COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans
Kitzler, Thomas M., Schneider, Ronen, Kohl, Stefan, Kolvenbach, Caroline M., Connaughton, Dervla M., Dai, Rufeng, Mann, Nina, Nakayama, Makiko, Majmundar, Amar J., Wu, Chen-Han W., Kari, Jameela A., El Desoky, Sherif M., Senguttuvan, Prabha, Bogdanovic, Radovan, Stajic, Natasa, Valivullah, Zaheer, Lek, Monkol, Mane, Shrikant, Lifton, Richard P., Tasic, Velibor, Shril, Shirlee, Hildebrandt, Friedhelm
Published in Human genetics (01.10.2019)
Published in Human genetics (01.10.2019)
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Journal Article
Copy number variation analysis in 138 families with steroid-resistant nephrotic syndrome identifies causal homozygous deletions in PLCE1 and NPHS2 in two families
Pantel, Dalia, Mertens, Nils D., Schneider, Ronen, Hölzel, Selina, Kari, Jameela A., Desoky, Sherif El, Shalaby, Mohamed A., Lim, Tze Y., Sanna-Cherchi, Simone, Shril, Shirlee, Hildebrandt, Friedhelm
Published in Pediatric nephrology (Berlin, West) (01.02.2024)
Published in Pediatric nephrology (Berlin, West) (01.02.2024)
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Journal Article
Outcome of Urinary Bladder Dysfunction in Children
El-Desoky, Sherif M., Banakhar, Mai, Khashoggi, Khalid, Zaher, Zaher Faisal, Albanna, Amr S., Kari, Jameela A.
Published in Indian journal of pediatrics (2022)
Published in Indian journal of pediatrics (2022)
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Journal Article
Rituximab versus cyclophosphamide as first steroid-sparing agent in childhood frequently relapsing and steroid-dependent nephrotic syndrome
Kari, Jameela A., Alhasan, Khalid A., Albanna, Amr S., Safdar, Osama Y., Shalaby, Mohamed A., Böckenhauer, Detlef, El-Desoky, Sherif M.
Published in Pediatric nephrology (Berlin, West) (01.08.2020)
Published in Pediatric nephrology (Berlin, West) (01.08.2020)
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Journal Article
Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT
Seltzsam, Steve, Wang, Chunyan, Zheng, Bixia, Mann, Nina, Connaughton, Dervla M., Wu, Chen-Han Wilfred, Schneider, Sophia, Schierbaum, Luca, Kause, Franziska, Kolvenbach, Caroline M., Nakayama, Makiko, Dai, Rufeng, Ottlewski, Isabel, Schneider, Ronen, Deutsch, Konstantin, Buerger, Florian, Klämbt, Verena, Mao, Youying, Onuchic-Whitford, Ana C., Nicolas-Frank, Camille, Yousef, Kirollos, Pantel, Dalia, Lai, Ethan W., Salmanullah, Daanya, Majmundar, Amar J., Bauer, Stuart B., Rodig, Nancy M., Somers, Michael J.G., Traum, Avram Z., Stein, Deborah R., Daga, Ankana, Baum, Michelle A., Daouk, Ghaleb H., Tasic, Velibor, Awad, Hazem S., Eid, Loai A., El Desoky, Sherif, Shalaby, Mohammed, Kari, Jameela A., Fathy, Hanan M., Soliman, Neveen A., Mane, Shrikant M., Shril, Shirlee, Ferguson, Michael A., Hildebrandt, Friedhelm
Published in Genetics in medicine (01.02.2022)
Published in Genetics in medicine (01.02.2022)
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Journal Article
Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models
Wang, Chunyan, Seltzsam, Steve, Zheng, Bixia, Wu, Chen‐Han Wilfred, Nicolas‐Frank, Camille, Yousef, Kirollos, Au, Kit Sing, Mann, Nina, Pantel, Dalia, Schneider, Sophia, Schierbaum, Luca, Kitzler, Thomas M., Connaughton, Dervla M., Mao, Youying, Dai, Rufeng, Nakayama, Makiko, Kari, Jameela A., El Desoky, Sherif, Shalaby, Mohammed, Eid, Loai A., Awad, Hazem S., Tasic, Velibor, Mane, Shrikant M., Lifton, Richard P., Baum, Michelle A., Shril, Shirlee, Estrada, Carlos R., Hildebrandt, Friedhelm
Published in American journal of medical genetics. Part A (01.05.2022)
Published in American journal of medical genetics. Part A (01.05.2022)
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Journal Article
Genetics of congenital and infantile nephrotic syndrome
Sharief, Sara Nawfal, Hefni, Nada Abdullatif, Alzahrani, Walaa Ali, Nazer, Iman Ibrahim, Bayazeed, Marwa Abdullah, Alhasan, Khalid A., Safdar, Osama Y., El-Desoky, Sherif M., Kari, Jameela Abdulaziz
Published in World journal of pediatrics : WJP (01.04.2019)
Published in World journal of pediatrics : WJP (01.04.2019)
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Journal Article
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome
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
Published in Journal of the American Society of Nephrology (01.06.2015)
Published in Journal of the American Society of Nephrology (01.06.2015)
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Journal Article
Steroid-sensitive nephrotic syndrome candidate gene CLVS1 regulates podocyte oxidative stress and endocytosis
Lane, Brandon M, Chryst-Stangl, Megan, Wu, Guanghong, Shalaby, Mohamed, El Desoky, Sherif, Middleton, Claire C, Huggins, Kinsie, Sood, Amika, Ochoa, Alejandro, Malone, Andrew F, Vancini, Ricardo, Miller, Sara E, Hall, Gentzon, Kim, So Young, Howell, David N, Kari, Jameela A, Gbadegesin, Rasheed
Published in JCI insight (25.01.2022)
Published in JCI insight (25.01.2022)
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Journal Article
Lupus Nephritis in an Adolescent Girl With Hyper-Immunoglobulin E
Alahmadi, Ghadeer G, El-Desoky, Sherif M, Al Zahrani, Reem A, Kari, Jameela A
Published in Curēus (Palo Alto, CA) (29.01.2023)
Published in Curēus (Palo Alto, CA) (29.01.2023)
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Journal Article
Facial swelling in a child on chronic hemodialysis: Questions
Sawan, Zinab A., El-Desoky, Sherif M., Shalaby, Mohamed A., Bockenhauer, Detlef, Kari, Jameela A.
Published in Pediatric nephrology (Berlin, West) (01.08.2017)
Published in Pediatric nephrology (Berlin, West) (01.08.2017)
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Journal Article
Cinacalcet for Severe Secondary Hyperparathyroidism in Children with End-stage Kidney Disease
Sheerah, Areej, Al-Ahmed, Rafif, El-Desoky, Sherif, Alhasan, Khalid, Albanna, Amr, Shalaby, Mohamed, Kari, Jameela
Published in Saudi journal of kidney diseases and transplantation (01.11.2021)
Published in Saudi journal of kidney diseases and transplantation (01.11.2021)
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Journal Article
ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption
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
Published in The Journal of clinical investigation (01.12.2013)
Published in The Journal of clinical investigation (01.12.2013)
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Journal Article
The Case | Renal tubular acidosis and eye findings
Kari, Jameela A., El Desoky, Sherif M., Singh, Ajay K., Gari, Mamdooh A., Kleta, Robert, Bockenhauer, Detlef
Published in Kidney international (01.07.2014)
Published in Kidney international (01.07.2014)
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Journal Article
Subcutaneous nodules in a child on long-term dialysis: Questions
El-Desoky, Sherif M., Bockenhauer, Detlef, Shroff, Rukshana, Kari, Jameela Abdulaziz
Published in Pediatric nephrology (Berlin, West) (01.07.2014)
Published in Pediatric nephrology (Berlin, West) (01.07.2014)
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Journal Article