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1.

Epidemiology and outcomes of pediatric autosomal recessive polycystic kidney disease in the Middle East and North Africa.

Salman, Mohamed A; Elgebaly, Ahmed; Soliman, Neveen A.

Pediatr Nephrol; 2024 Jan 23.

Artículo en Inglés | MEDLINE | ID: mdl-38261064

2.

DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation.

Schneider, Ronen; Deutsch, Konstantin; Hoeprich, Gregory J; Marquez, Jonathan; Hermle, Tobias; Braun, Daniela A; Seltzsam, Steve; Kitzler, Thomas M; Mao, Youying; Buerger, Florian; Majmundar, Amar J; Onuchic-Whitford, Ana C; Kolvenbach, Caroline M; Schierbaum, Luca; Schneider, Sophia; Halawi, Abdul A; Nakayama, Makiko; Mann, Nina; Connaughton, Dervla M; Klämbt, Verena; Wagner, Matias; Riedhammer, Korbinian M; Renders, Lutz; Katsura, Yoshichika; Thumkeo, Dean; Soliman, Neveen A; Mane, Shrikant; Lifton, Richard P; Shril, Shirlee; Khokha, Mustafa K; Hoefele, Julia; Goode, Bruce L; Hildebrandt, Friedhelm.

Am J Hum Genet; 107(6): 1113-1128, 2020 12 03.

Artículo en Inglés | MEDLINE | ID: mdl-33232676

3.

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.

Genet Med; 24(2): 307-318, 2022 02.

Artículo en Inglés | MEDLINE | ID: mdl-34906515

4.

Clinical and neurophysiological characterization of early neuromuscular involvement in children and adolescents with nephropathic cystinosis.

Elkhateeb, Nour; Selim, Rasha; Soliman, Neveen A; Atia, Fatma M; Abouelwoun, Ihab Ibrahim; Elmonem, Mohamed A; Helmy, Rasha.

Pediatr Nephrol; 37(7): 1555-1566, 2022 07.

Artículo en Inglés | MEDLINE | ID: mdl-34791528

5.

Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome.

Mann, Nina; Mzoughi, Slim; Schneider, Ronen; Kühl, Susanne J; Schanze, Denny; Klämbt, Verena; Lovric, Svjetlana; Mao, Youying; Shi, Shasha; Tan, Weizhen; Kühl, Michael; Onuchic-Whitford, Ana C; Treimer, Ernestine; Kitzler, Thomas M; Kause, Franziska; Schumann, Sven; Nakayama, Makiko; Buerger, Florian; Shril, Shirlee; van der Ven, Amelie T; Majmundar, Amar J; Holton, Kristina Marie; Kolb, Amy; Braun, Daniela A; Rao, Jia; Jobst-Schwan, Tilman; Mildenberger, Eva; Lennert, Thomas; Kuechler, Alma; Wieczorek, Dagmar; Gross, Oliver; Ermisch-Omran, Beate; Werberger, Anja; Skalej, Martin; Janecke, Andreas R; Soliman, Neveen A; Mane, Shrikant M; Lifton, Richard P; Kadlec, Jan; Guccione, Ernesto; Schmeisser, Michael J; Zenker, Martin; Hildebrandt, Friedhelm.

J Am Soc Nephrol; 32(3): 580-596, 2021 03.

Artículo en Inglés | MEDLINE | ID: mdl-33593823

6.

Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency.

Vavassori, Stefano; Chou, Janet; Faletti, Laura Eva; Haunerdinger, Veronika; Opitz, Lennart; Joset, Pascal; Fraser, Christopher J; Prader, Seraina; Gao, Xianfei; Schuch, Luise A; Wagner, Matias; Hoefele, Julia; Maccari, Maria Elena; Zhu, Ying; Elakis, George; Gabbett, Michael T; Forstner, Maria; Omran, Heymut; Kaiser, Thomas; Kessler, Christina; Olbrich, Heike; Frosk, Patrick; Almutairi, Abduarahman; Platt, Craig D; Elkins, Megan; Weeks, Sabrina; Rubin, Tamar; Planas, Raquel; Marchetti, Tommaso; Koovely, Danil; Klämbt, Verena; Soliman, Neveen A; von Hardenberg, Sandra; Klemann, Christian; Baumann, Ulrich; Lenz, Dominic; Klein-Franke, Andreas; Schwemmle, Martin; Huber, Michael; Sturm, Ekkehard; Hartleif, Steffen; Häffner, Karsten; Gimpel, Charlotte; Brotschi, Barbara; Laube, Guido; Güngör, Tayfun; Buckley, Michael F; Kottke, Raimund; Staufner, Christian; Hildebrandt, Friedhelm.

J Allergy Clin Immunol; 148(2): 381-393, 2021 08.

Artículo en Inglés | MEDLINE | ID: mdl-33872655

7.

Subtle cardiac dysfunction in nephropathic cystinosis: insight from tissue Doppler imaging and 2D speckle tracking echocardiography.

Afify, Mohamed H; Abdelrahman, Safaa M; Mohamed, Hossam I; Helmy, Rasha; Abdelmohsen, Gaser; Abdelaziz, Osama; Soliman, Neveen A.

Pediatr Nephrol; 35(12): 2307-2317, 2020 12.

Artículo en Inglés | MEDLINE | ID: mdl-32666370

8.

Treatment and long-term outcome in primary distal renal tubular acidosis.

Lopez-Garcia, Sergio Camilo; Emma, Francesco; Walsh, Stephen B; Fila, Marc; Hooman, Nakysa; Zaniew, Marcin; Bertholet-Thomas, Aurélia; Colussi, Giacomo; Burgmaier, Kathrin; Levtchenko, Elena; Sharma, Jyoti; Singhal, Jyoti; Soliman, Neveen A; Ariceta, Gema; Basu, Biswanath; Murer, Luisa; Tasic, Velibor; Tsygin, Alexey; Decramer, Stéphane; Gil-Peña, Helena; Koster-Kamphuis, Linda; La Scola, Claudio; Gellermann, Jutta; Konrad, Martin; Lilien, Marc; Francisco, Telma; Tramma, Despoina; Trnka, Peter; Yüksel, Selçuk; Caruso, Maria Rosa; Chromek, Milan; Ekinci, Zelal; Gambaro, Giovanni; Kari, Jameela A; König, Jens; Taroni, Francesca; Thumfart, Julia; Trepiccione, Francesco; Winding, Louise; Wühl, Elke; Agbas, Ayse; Belkevich, Anna; Vargas-Poussou, Rosa; Blanchard, Anne; Conti, Giovanni; Boyer, Olivia; Dursun, Ismail; Pinarbasi, Ayse Seda; Melek, Engin; Miglinas, Marius.

Nephrol Dial Transplant; 34(6): 981-991, 2019 06 01.

Artículo en Inglés | MEDLINE | ID: mdl-30773598

9.

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

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.

J Inherit Metab Dis; 42(5): 1019-1029, 2019 09.

Artículo en Inglés | MEDLINE | ID: mdl-31177550

10.

Combined liver-kidney transplantation for primary hyperoxaluria type I in children: Single Center Experience.

Kotb, Magd A; Hamza, Alaa F; Abd El Kader, Hesham; El Monayeri, Magda; Mosallam, Dalia S; Ali, Nazira; Basanti, Christine William Shaker; Bazaraa, Hafez; Abdelrahman, Hany; Nabhan, Marwa M; Abd El Baky, Hend; El Sorogy, Sally T Mostafa; Kamel, Inas E M; Ismail, Hoda; Ramadan, Yasmin; Abd El Rahman, Safaa M; Soliman, Neveen A.

Pediatr Transplant; 23(1): e13313, 2019 02.

Artículo en Inglés | MEDLINE | ID: mdl-30475440

11.

Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children.

Vivante, Asaf; Chacham, Orna Staretz; Shril, Shirlee; Schreiber, Ruth; Mane, Shrikant M; Pode-Shakked, Ben; Soliman, Neveen A; Koneth, Irene; Schiffer, Mario; Anikster, Yair; Hildebrandt, Friedhelm.

Pediatr Nephrol; 34(9): 1607-1613, 2019 09.

Artículo en Inglés | MEDLINE | ID: mdl-31001663

12.

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

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; Bogdanovic, Radovan; Stajic, 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.

J Am Soc Nephrol; 29(9): 2348-2361, 2018 09.

Artículo en Inglés | MEDLINE | ID: mdl-30143558

13.

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

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 A; 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.

Kidney Int; 93(1): 204-213, 2018 01.

Artículo en Inglés | MEDLINE | ID: mdl-28893421

14.

Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease.

Burgmaier, Kathrin; Kunzmann, Kevin; Ariceta, Gema; Bergmann, Carsten; Buescher, Anja Katrin; Burgmaier, Mathias; Dursun, Ismail; Duzova, Ali; Eid, Loai; Erger, Florian; Feldkoetter, Markus; Galiano, Matthias; Geßner, Michaela; Goebel, Heike; Gokce, Ibrahim; Haffner, Dieter; Hooman, Nakysa; Hoppe, Bernd; Jankauskiene, Augustina; Klaus, Guenter; König, Jens; Litwin, Mieczyslaw; Massella, Laura; Mekahli, Djalila; Melek, Engin; Mir, Sevgi; Pape, Lars; Prikhodina, Larisa; Ranchin, Bruno; Schild, Raphael; Seeman, Tomas; Sever, Lale; Shroff, Rukshana; Soliman, Neveen A; Stabouli, Stella; Stanczyk, Malgorzata; Tabel, Yilmaz; Taranta-Janusz, Katarzyna; Testa, Sara; Thumfart, Julia; Topaloglu, Rezan; Weber, Lutz Thorsten; Wicher, Dorota; Wühl, Elke; Wygoda, Simone; Yilmaz, Alev; Zachwieja, Katarzyna; Zagozdzon, Ilona; Zerres, Klaus; Dötsch, Jörg.

J Pediatr; 199: 22-28.e6, 2018 08.

Artículo en Inglés | MEDLINE | ID: mdl-29753540

15.

Exome Sequencing Discerns Syndromes in Patients from Consanguineous Families with Congenital Anomalies of the Kidneys and Urinary Tract.

Vivante, Asaf; Hwang, Daw-Yang; Kohl, Stefan; Chen, Jing; Shril, Shirlee; Schulz, Julian; van der Ven, Amelie; Daouk, Ghaleb; Soliman, Neveen A; Kumar, Aravind Selvin; Senguttuvan, Prabha; Kehinde, Elijah O; Tasic, Velibor; Hildebrandt, Friedhelm.

J Am Soc Nephrol; 28(1): 69-75, 2017 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-27151922

16.

Cystic kidneys in fetal Walker-Warburg syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature.

Nabhan, Marwa M; ElKhateeb, Nour; Braun, Daniela A; Eun, Sungho; Saleem, Sahar N; YungGee, Heon; Hildebrandt, Friedhelm; Soliman, Neveen A.

Am J Med Genet A; 173(10): 2697-2702, 2017 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-28815891

17.

Endemic bladder calculi in children.

Soliman, Neveen A; Rizvi, S Adibul Hasan.

Pediatr Nephrol; 32(9): 1489-1499, 2017 09.

Artículo en Inglés | MEDLINE | ID: mdl-27848095

18.

Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies.

Schueler, Markus; Halbritter, Jan; Phelps, Ian G; Braun, Daniela A; Otto, Edgar A; Porath, Jonathan D; Gee, Heon Yung; Shendure, Jay; O'Roak, Brian J; Lawson, Jennifer A; Nabhan, Marwa M; Soliman, Neveen A; Doherty, Dan; Hildebrandt, Friedhelm.

J Med Genet; 53(3): 208-14, 2016 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-26673778

19.

Controversies and research agenda in nephropathic cystinosis: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference.

Langman, Craig B; Barshop, Bruce A; Deschênes, Georges; Emma, Francesco; Goodyer, Paul; Lipkin, Graham; Midgley, Julian P; Ottolenghi, Chris; Servais, Aude; Soliman, Neveen A; Thoene, Jess G; Levtchenko, Elena N.

Kidney Int; 89(6): 1192-203, 2016 06.

Artículo en Inglés | MEDLINE | ID: mdl-27181776

20.

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

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.

Kidney Int; 89(2): 468-475, 2016 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-26489029

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