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Page 1
Biallelic Variants in KIF17 Associated with Microphthalmia and Coloboma Spectrum.
Riva A, Gambadauro A, Dipasquale V, Casto C, Ceravolo MD, Accogli A, Scala M, Ceravolo G, Iacomino M, Zara F, Striano P, Cuppari C, Di Rosa G, Cutrupi MC, Salpietro V, Chimenz R. Riva A, et al. Among authors: chimenz r. Int J Mol Sci. 2021 Apr 25;22(9):4471. doi: 10.3390/ijms22094471. Int J Mol Sci. 2021. PMID: 33922911 Free PMC article.
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment.
Salpietro V, Malintan NT, Llano-Rivas I, Spaeth CG, Efthymiou S, Striano P, Vandrovcova J, Cutrupi MC, Chimenz R, David E, Di Rosa G, Marce-Grau A, Raspall-Chaure M, Martin-Hernandez E, Zara F, Minetti C; Deciphering Developmental Disorders Study; SYNAPS Study Group; Bello OD, De Zorzi R, Fortuna S, Dauber A, Alkhawaja M, Sultan T, Mankad K, Vitobello A, Thomas Q, Mau-Them FT, Faivre L, Martinez-Azorin F, Prada CE, Macaya A, Kullmann DM, Rothman JE, Krishnakumar SS, Houlden H. Salpietro V, et al. Among authors: chimenz r. Am J Hum Genet. 2019 Apr 4;104(4):721-730. doi: 10.1016/j.ajhg.2019.02.016. Epub 2019 Mar 28. Am J Hum Genet. 2019. PMID: 30929742 Free PMC article.
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.
Nephrotic syndrome: immunological mechanisms.
Colavita L, Salpietro C, Cuppari C, Sallemi A, Di Benedetto V, Concolino D, Marseglia L, D'Angelo G, Gitto E, Betta P, Fede C, Conti G, Chimenz R. Colavita L, et al. Among authors: chimenz r. J Biol Regul Homeost Agents. 2019 Sep-Oct;33(5 Suppl. 1):13-18. Special Issue: Focus on Pediatric Nephrology. J Biol Regul Homeost Agents. 2019. PMID: 31630708
Renal anomalies in newborns with vacterel association: case series and literature review.
Passanisi S, D'Angelo G, Marseglia L, De Cola C, Granese R, Conti G, Betta P, Cutrupi MC, Fede C, Chimenz R, Salpietro C, Gitto E. Passanisi S, et al. Among authors: chimenz r. J Biol Regul Homeost Agents. 2019 Sep-Oct;33(5 Suppl. 1):53-58. Special Issue: Focus on Pediatric Nephrology. J Biol Regul Homeost Agents. 2019. PMID: 31630714 Review.
Unusual presentation of Henoch-Schönlein purpura.
Chimenz R, Cannavò L, Spinuzza A, Fede C, Cucinotta U, Pensabene L, Betta P, Gitto E, Concolino D, Cuppari C. Chimenz R, et al. J Biol Regul Homeost Agents. 2019 Sep-Oct;33(5 Suppl. 1):69-74. Special Issue: Focus on Pediatric Nephrology. J Biol Regul Homeost Agents. 2019. PMID: 31630717
96 results