Search Results - "Soliman, Neveen A."

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

“…Congenital anomalies of the kidney and urinary tract (CAKUT) account for approximately half of children with chronic kidney disease. CAKUT can be caused by…”
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COVID-19 infection and the kidneys: Learning the lesson by Soliman, Neveen A.

“…The novel coronavirus 2019 pandemic has become a global health crisis. In an attempt to decipher how kidneys are affected by COVID-19 infection, this review…”
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Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children by 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

“…Background Heterozygous PAX2 mutations cause renal coloboma syndrome (RCS) [OMIM no. 120330]. RCS is a renal syndromic disease encompassing retinal coloboma…”
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Clinical and molecular characterization of primary hyperoxaluria in Egypt by Soliman, Neveen A., Elmonem, Mohamed A., Abdelrahman, Safaa M., Nabhan, Marwa M., Fahmy, Yosra A., Cogal, Andrea, Harris, Peter C., Milliner, Dawn S.

“…Primary hyperoxaluria (PH) is an autosomal recessive disorder of oxalate metabolism caused by pathogenic variants in either of three genes ( AGXT , GRHPR or…”
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DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation by 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

“…The discovery of >60 monogenic causes of nephrotic syndrome (NS) has revealed a central role for the actin regulators RhoA/Rac1/Cdc42 and their effectors,…”
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Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization by Bizet, Albane A., Becker-Heck, Anita, Ryan, Rebecca, Weber, Kristina, Filhol, Emilie, Krug, Pauline, Halbritter, Jan, Delous, Marion, Lasbennes, Marie-Christine, Linghu, Bolan, Oakeley, Edward J., Zarhrate, Mohammed, Nitschké, Patrick, Garfa-Traore, Meriem, Serluca, Fabrizio, Yang, Fan, Bouwmeester, Tewis, Pinson, Lucile, Cassuto, Elisabeth, Dubot, Philippe, Elshakhs, Neveen A. Soliman, Sahel, José A., Salomon, Rémi, Drummond, Iain A., Gubler, Marie-Claire, Antignac, Corinne, Chibout, Salahdine, Szustakowski, Joseph D., Hildebrandt, Friedhelm, Lorentzen, Esben, Sailer, Andreas W., Benmerah, Alexandre, Saint-Mezard, Pierre, Saunier, Sophie

“…Ciliopathies are a large group of clinically and genetically heterogeneous disorders caused by defects in primary cilia. Here we identified mutations in…”
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Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome by Lovric, Svjetlana, Fang, Humphrey, Vega-Warner, Virginia, Sadowski, Carolin E, Gee, Heon Yung, Halbritter, Jan, Ashraf, Shazia, Saisawat, Pawaree, Soliman, Neveen A, Kari, Jameela A, Otto, Edgar A, Hildebrandt, Friedhelm

“…In steroid-resistant nephrotic syndrome (SRNS), >21 single-gene causes are known. However, mutation analysis of all known SRNS genes is time and cost…”
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Advillin acts upstream of phospholipase C ϵ1 in steroid-resistant nephrotic syndrome by 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

“…Steroid-resistant nephrotic syndrome (SRNS) is a frequent cause of chronic kidney disease. Here, we identified recessive mutations in the gene encoding the…”
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Mutations of the SLIT2–ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract by Hwang, Daw-Yang, Kohl, Stefan, Fan, Xueping, Vivante, Asaf, Chan, Stefanie, Dworschak, Gabriel C., Schulz, Julian, van Eerde, Albertien M., Hilger, Alina C., Gee, Heon Yung, Pennimpede, Tracie, Herrmann, Bernhard G., van de Hoek, Glenn, Renkema, Kirsten Y., Schell, Christoph, Huber, Tobias B., Reutter, Heiko M., Soliman, Neveen A., Stajic, Natasa, Bogdanovic, Radovan, Kehinde, Elijah O., Lifton, Richard P., Tasic, Velibor, Lu, Weining, Hildebrandt, Friedhelm

“…Congenital anomalies of the kidney and urinary tract (CAKUT) account for 40–50 % of chronic kidney disease that manifests in the first two decades of life…”
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Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies by 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

“…The term nephronophthisis-related ciliopathies (NPHP-RC) describes a group of rare autosomal-recessive cystic kidney diseases, characterised by broad genetic…”
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Newborn Screening: Review of its Impact for Cystinosis by Hohenfellner, Katharina, Elenberg, Ewa, Ariceta, Gema, Nesterova, Galina, Soliman, Neveen A, Topaloglu, Rezan

“…Newborn screening (NBS) programmes are considered to be one of the most successful secondary prevention measures in childhood to prevent or reduce morbidity…”
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Cognitive functions and behavioural profiles in children with cystinosis treated with cysteamine and correlation with treatment duration by Atia, Fatma M., Alfaleet, Weam Ryad, Shaheen, Somaya H., Soliman, Neveen A.

“…Background Cystinosis is a rare autosomal recessive disease. Children with nephropathic cystinosis (NCTN) have evidence of intellectual dysfunction and…”
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Exome sequencing identifies a likely causative variant in 53% of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions by Deutsch, Konstantin, Klämbt, Verena, Kitzler, Thomas M., Jobst-Schwan, Tilman, Schneider, Ronen, Buerger, Florian, Seltzsam, Steve, El Desoky, Sherif, Kari, Jameela A., Hafeez, Farkhanda, Szczepańska, Maria, Eid, Loai A., Awad, Hazem S., Al-Saffar, Muna, Soliman, Neveen A., Tasic, Velibor, Nicolas-Frank, Camille, Yousef, Kirollos, Schierbaum, Luca M., Schneider, Sophia, Halawi, Abdul, Elmubarak, Izzeldin, Lemberg, Katharina, Shril, Shirlee, Mane, Shrikant M., Rodig, Nancy, Hildebrandt, Friedhelm

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Pulmonary dysfunction in children with Cystinosis: single center study, original article by Hamed, Dina H., Halim, Radwa Mohamed Abdel, El Attar, Mona Mohsen, Soliman, Neveen A., Osman, Hanan Mohsen

“…Background Cystinosis is a rare autosomal recessive disorder involving lysosomal storage of the amino acid cystine due to a defect in the membrane transport…”
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Mutation analysis of NPHS1 in a worldwide cohort of congenital nephrotic syndrome patients by Ovunc, Bugsu, Ashraf, Shazia, Vega-Warner, Virginia, Bockenhauer, Detlef, Elshakhs, Neveen A Soliman, Joseph, Mark, Hildebrandt, Friedhelm

“…Congenital nephrotic syndrome (CNS) is defined as nephrotic syndrome that manifests within the first 3 months of life. Mutations in the NPHS1 gene encoding…”
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Egyptian paediatric kidney transplantation pre-transplant guidance highlights on donor and recipient assessment (R. N. 364) by Moustafa, Bahia, Soliman, Neveen A., Badr, Ahmed, EL-Hatw, Mohamad K., Mogahed, Engy A., Ghamrawy, Mona El, Shaheen, Noha, ElKhashab, Khaled M., Shouman, Mohamed G., Selim, Abeer, Moselhy, Sawsan, Sallam, Dina E., El-Sharkawy, Magdy, AbdelAzim, Tarek A., Esmat, Mohamad, Soliman, Nanies, Baraka, Mostafa, Ali-El-Dein, Bedeir, Elhadedy, Muhammed Ahmed, Ghoneim, Moatasem Elsayed, Korkor, Mai S., Omar, Tarek, Amer, Yasser S., Baky, Ashraf Abdel

“…Background Kidney transplantation for chronic kidney disease (CKD) in children is the best treatment option. It needs special medical and surgical expertise…”
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Egyptian pediatric kidney transplantation: highlights on post-transplant follow-up and management of complications by the Egyptian Pediatric Clinical Practice Guidelines Committee (EPG) Nephrology Group by Moustafa, Bahia, Soliman, Neveen A., Shaheen, Ihab, Badr, Ahmed, Atia, Fatma M., El Hatw, Mohamed K., Mogahed, Engy Adel, EL-Ghamrawy, Mona, El Khashab, Khaled, Shaheen, Noha, Shouman, Mohamad G., Selim, Abeer, El-Sharkawy, Magdy, El Azeem, Tarek Abd, Esmat, Mohamad, Salman, Manal, Ali-El-Dein, Bedeir, Rahim, Mona Abdel, El-Hadedy, Muhamed A., Ghoneim, Moatasem Elsayed, Korkor, Mai S., Omar, Tarek E. I., Amer, Yasser, Baky, Ashraf Abdel

“…Background Pediatric kidney transplantation is unique when compared to adults. They need optimum post-transplant care to achieve longer graft and patient…”
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Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary Tract by 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

“…Pathogenic copy number variants (CNVs) could explain congenital anomalies of the kidney and urinary tract (CAKUT) in 5.29% of the families in our cohort,…”
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Epidemiology and outcomes of pediatric autosomal recessive polycystic kidney disease in the Middle East and North Africa by Salman, Mohamed A., Elgebaly, Ahmed, Soliman, Neveen A.

“…The incidence of rare diseases is expected to be comparatively higher in the Middle East and North Africa (MENA) region than in other parts of the world,…”
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Cystinosis: a review by Elmonem, Mohamed A, Veys, Koenraad R, Soliman, Neveen A, van Dyck, Maria, van den Heuvel, Lambertus P, Levtchenko, Elena

“…Cystinosis is the most common hereditary cause of renal Fanconi syndrome in children. It is an autosomal recessive lysosomal storage disorder caused by…”
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