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Year Number of Results
2003 2
2004 2
2009 1
2010 1
2011 1
2012 4
2013 2
2014 1
2015 1
2016 1
2017 2
2018 2
2019 4
2020 5
2021 9
2022 9
2023 7
2024 1

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47 results

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Page 1
Antibiotic Prophylaxis in Infants with Grade III, IV, or V Vesicoureteral Reflux.
Morello W, Baskin E, Jankauskiene A, Yalcinkaya F, Zurowska A, Puccio G, Serafinelli J, La Manna A, Krzemień G, Pennesi M, La Scola C, Becherucci F, Brugnara M, Yuksel S, Mekahli D, Chimenz R, De Palma D, Zucchetta P, Vajauskas D, Drozdz D, Szczepanska M, Caliskan S, Lombet J, Minoli DG, Guarino S, Gulleroglu K, Ruzgiene D, Szmigielska A, Barbi E, Ozcakar ZB, Kranz A, Pasini A, Materassi M, De Rechter S, Ariceta G, Weber LT, Marzuillo P, Alberici I, Taranta-Janusz K, Caldas Afonso A, Tkaczyk M, Català M, Cabrera Sevilla JE, Mehls O, Schaefer F, Montini G; PREDICT Study Group. Morello W, et al. Among authors: chimenz r. N Engl J Med. 2023 Sep 14;389(11):987-997. doi: 10.1056/NEJMoa2300161. Epub 2023 Sep 12. N Engl J Med. 2023. PMID: 37702442 Clinical Trial.
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A; SYNAPS Study Group; Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H. Salpietro V, et al. Nat Commun. 2019 Jul 12;10(1):3094. doi: 10.1038/s41467-019-10910-w. Nat Commun. 2019. PMID: 31300657 Free PMC article.
Management of the congenital solitary kidney: consensus recommendations of the Italian Society of Pediatric Nephrology.
La Scola C, Ammenti A, Bertulli C, Bodria M, Brugnara M, Camilla R, Capone V, Casadio L, Chimenz R, Conte ML, Conversano E, Corrado C, Guarino S, Luongo I, Marsciani M, Marzuillo P, Meneghesso D, Pennesi M, Pugliese F, Pusceddu S, Ravaioli E, Taroni F, Vergine G, Peruzzi L, Montini G. La Scola C, et al. Among authors: chimenz r. Pediatr Nephrol. 2022 Sep;37(9):2185-2207. doi: 10.1007/s00467-022-05528-y. Epub 2022 Jun 17. Pediatr Nephrol. 2022. PMID: 35713730 Free PMC article. Review.
Updated Italian recommendations for the diagnosis, treatment and follow-up of the first febrile urinary tract infection in young children.
Ammenti A, Alberici I, Brugnara M, Chimenz R, Guarino S, La Manna A, La Scola C, Maringhini S, Marra G, Materassi M, Morello W, Nicolini G, Pennesi M, Pisanello L, Pugliese F, Scozzola F, Sica F, Toffolo A, Montini G; Italian Society of Pediatric Nephrology. Ammenti A, et al. Among authors: chimenz r. Acta Paediatr. 2020 Feb;109(2):236-247. doi: 10.1111/apa.14988. Epub 2019 Oct 6. Acta Paediatr. 2020. PMID: 31454101 Free PMC article. Review.
The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic-Therapeutic Implications.
Scorrano G, David E, Calì E, Chimenz R, La Bella S, Di Ludovico A, Di Rosa G, Gitto E, Mankad K, Nardello R, Mangano GD, Leoni C, Ceravolo G. Scorrano G, et al. Among authors: chimenz r. Genes (Basel). 2023 Nov 22;14(12):2111. doi: 10.3390/genes14122111. Genes (Basel). 2023. PMID: 38136934 Free PMC article. Review.
NUP85 as a Neurodevelopmental Gene: From Podocyte to Neuron.
Gambadauro A, Mangano GD, Galletta K, Granata F, Riva A, Massella L, Guzzo I, Farello G, Scorrano G, Di Francesco L, Di Donato G, Ianni C, Di Ludovico A, La Bella S, Striano P, Efthymiou S, Houlden H, Nardello R, Chimenz R. Gambadauro A, et al. Among authors: chimenz r. Genes (Basel). 2023 Nov 27;14(12):2143. doi: 10.3390/genes14122143. Genes (Basel). 2023. PMID: 38136965 Free PMC article. Review.
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease.
Calì E, Lin SJ, Rocca C, Sahin Y, Al Shamsi A, El Chehadeh S, Chaabouni M, Mankad K, Galanaki E, Efthymiou S, Sudhakar S, Athanasiou-Fragkouli A, Çelik T, Narlı N, Bianca S, Murphy D, De Carvalho Moreira FM; SYNaPS Study Group; Andrea Accogli, Petree C, Huang K, Monastiri K, Edizadeh M, Nardello R, Ognibene M, De Marco P, Ruggieri M, Zara F, Striano P, Şahin Y, Al-Gazali L, Abi Warde MT, Gerard B, Zifarelli G, Beetz C, Fortuna S, Soler M, Valente EM, Varshney G, Maroofian R, Salpietro V, Houlden H. Calì E, et al. Genet Med. 2022 Oct;24(10):2194-2203. doi: 10.1016/j.gim.2022.07.013. Epub 2022 Aug 24. Genet Med. 2022. PMID: 36001086 Free PMC article.
Use of Melatonin in Oxidative Stress Related Neonatal Diseases.
D'Angelo G, Chimenz R, Reiter RJ, Gitto E. D'Angelo G, et al. Among authors: chimenz r. Antioxidants (Basel). 2020 Jun 2;9(6):477. doi: 10.3390/antiox9060477. Antioxidants (Basel). 2020. PMID: 32498356 Free PMC article. Review.
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
Salpietro V, Maroofian R, Zaki MS, Wangen J, Ciolfi A, Barresi S, Efthymiou S, Lamaze A, Aughey GN, Al Mutairi F, Rad A, Rocca C, Calì E, Accogli A, Zara F, Striano P, Mojarrad M, Tariq H, Giacopuzzi E, Taylor JC, Oprea G, Skrahina V, Rehman KU, Abd Elmaksoud M, Bassiony M, El Said HG, Abdel-Hamid MS, Al Shalan M, Seo G, Kim S, Lee H, Khang R, Issa MY, Elbendary HM, Rafat K, Marinakis NM, Traeger-Synodinos J, Ververi A, Sourmpi M, Eslahi A, Khadivi Zand F, Beiraghi Toosi M, Babaei M, Jackson A; SYNAPS Study Group; Bertoli-Avella A, Pagnamenta AT, Niceta M, Battini R, Corsello A, Leoni C, Chiarelli F, Dallapiccola B, Faqeih EA, Tallur KK, Alfadhel M, Alobeid E, Maddirevula S, Mankad K, Banka S, Ghayoor-Karimiani E, Tartaglia M, Chung WK, Green R, Alkuraya FS, Jepson JEC, Houlden H. Salpietro V, et al. Am J Hum Genet. 2024 Jan 4;111(1):200-210. doi: 10.1016/j.ajhg.2023.11.012. Epub 2023 Dec 20. Am J Hum Genet. 2024. PMID: 38118446 Free PMC article.
47 results