Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2009 1
2010 1
2011 1
2015 1
2016 1
2017 3
2018 3
2019 4
2020 3
2021 2
2025 0

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

18 results

Results by year

Filters applied: . Clear all
Page 1
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.
Genetics and cardiovascular disease.
Loddo I, Barbera F, Di Gesaro G, Cutrupi MC, Calabrò MP, Ceravolo G, Salpietro C, Gramaglia SMC, Ceravolo A, Concolino D, De Sarro R, Cuppari C, Gitto E, Clemenza F, Di Carlo D. Loddo I, et al. Among authors: cutrupi mc. J Biol Regul Homeost Agents. 2020 Jul-Aug;34(4 Suppl. 2):17-22. SPECIAL ISSUE: FOCUS ON PEDIATRIC CARDIOLOGY. J Biol Regul Homeost Agents. 2020. PMID: 33000595 No abstract available.
Congenital heart disease in Down Syndrome.
Gramaglia SMC, Cuppari C, Salpietro C, Ceravolo A, Cutrupi MC, Concolino D, De Sarro R, Amatruda M, Mondello P, Ceravolo G, Calabrò MP, Gitto E. Gramaglia SMC, et al. Among authors: cutrupi mc. J Biol Regul Homeost Agents. 2020 Jul-Aug;34(4 Suppl. 2):31-35. SPECIAL ISSUE: FOCUS ON PEDIATRIC CARDIOLOGY. J Biol Regul Homeost Agents. 2020. PMID: 33000597 No abstract available.
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: cutrupi mc. 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.
Prominent and Regressive Brain Developmental Disorders Associated with Nance-Horan Syndrome.
Casto C, Dipasquale V, Ceravolo I, Gambadauro A, Aliberto E, Galletta K, Granata F, Ceravolo G, Falzia E, Riva A, Piccolo G, Cutrupi MC, Striano P, Accogli A, Zara F, Di Rosa G, Gitto E, Calì E, Efthymiou S, Salpietro V, Houlden H, Chimenz R. Casto C, et al. Among authors: cutrupi mc. Brain Sci. 2021 Aug 29;11(9):1150. doi: 10.3390/brainsci11091150. Brain Sci. 2021. PMID: 34573171 Free PMC article.
Autoimmune liver disease in Noonan Syndrome.
Loddo I, Romano C, Cutrupi MC, Sciveres M, Riva S, Salpietro A, Ferraù V, Gallizzi R, Briuglia S. Loddo I, et al. Among authors: cutrupi mc. Eur J Med Genet. 2015 Mar;58(3):188-90. doi: 10.1016/j.ejmg.2014.12.013. Epub 2015 Jan 13. Eur J Med Genet. 2015. PMID: 25595571
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: cutrupi mc. Int J Mol Sci. 2021 Apr 25;22(9):4471. doi: 10.3390/ijms22094471. Int J Mol Sci. 2021. PMID: 33922911 Free PMC article.
Ureterocystoplasty (bladder augmentation) in a 16 year-old boy with Goldenhar syndrome.
Scuderi MG, Milazzo G, Betta P, Spampinato G, Fusco M, Cutrupi MC, Chimenz R, Falsaperla M, Di Benedetto V. Scuderi MG, et al. Among authors: cutrupi mc. J Biol Regul Homeost Agents. 2019 Sep-Oct;33(5 Suppl. 1):65-67. Special Issue: Focus on Pediatric Nephrology. J Biol Regul Homeost Agents. 2019. PMID: 31630716
18 results