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 NCBI Filters

Results by year

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

Year Number of Results
1961 2
1985 1
1987 1
1988 1
1989 5
1990 3
1991 4
1992 3
1993 7
1994 2
1996 1
1997 2
1998 1
1999 2
2000 2
2001 5
2002 4
2003 8
2004 7
2005 8
2006 7
2007 10
2008 9
2009 11
2010 8
2011 11
2012 8
2013 5
2014 8
2015 9
2016 7
2017 5
2018 8
2019 7
2020 7
2021 10
2022 8
2023 5
2024 5

Text availability

Article attribute

Article type

Publication date

Search Results

181 results

Results by year

Filters applied: . Clear all
Page 1
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.
Solaki M, Baumann B, Reuter P, Andreasson S, Audo I, Ayuso C, Balousha G, Benedicenti F, Birch D, Bitoun P, Blain D, Bocquet B, Branham K, Català-Mora J, De Baere E, Dollfus H, Falana M, Giorda R, Golovleva I, Gottlob I, Heckenlively JR, Jacobson SG, Jones K, Jägle H, Janecke AR, Kellner U, Liskova P, Lorenz B, Martorell-Sampol L, Messias A, Meunier I, Belga Ottoni Porto F, Papageorgiou E, Plomp AS, de Ravel TJL, Reiff CM, Renner AB, Rosenberg T, Rudolph G, Salati R, Sener EC, Sieving PA, Stanzial F, Traboulsi EI, Tsang SH, Varsanyi B, Weleber RG, Zobor D, Stingl K, Wissinger B, Kohl S. Solaki M, et al. Among authors: giorda r. Hum Mutat. 2022 Jul;43(7):832-858. doi: 10.1002/humu.24371. Epub 2022 Apr 14. Hum Mutat. 2022. PMID: 35332618 Review.
De novo unbalanced translocations have a complex history/aetiology.
Bonaglia MC, Kurtas NE, Errichiello E, Bertuzzo S, Beri S, Mehrjouy MM, Provenzano A, Vergani D, Pecile V, Novara F, Reho P, Di Giacomo MC, Discepoli G, Giorda R, Aldred MA, Santos-Rebouças CB, Goncalves AP, Abuelo DN, Giglio S, Ricca I, Franchi F, Patsalis P, Sismani C, Morí MA, Nevado J, Tommerup N, Zuffardi O. Bonaglia MC, et al. Among authors: giorda r. Hum Genet. 2018 Oct;137(10):817-829. doi: 10.1007/s00439-018-1941-9. Epub 2018 Oct 1. Hum Genet. 2018. PMID: 30276538 Clinical Trial.
GRIN2B predicts attention problems among disadvantaged children.
Riva V, Battaglia M, Nobile M, Cattaneo F, Lazazzera C, Mascheretti S, Giorda R, Mérette C, Émond C, Maziade M, Marino C. Riva V, et al. Among authors: giorda r. Eur Child Adolesc Psychiatry. 2015 Jul;24(7):827-36. doi: 10.1007/s00787-014-0627-7. Epub 2014 Oct 16. Eur Child Adolesc Psychiatry. 2015. PMID: 25316095
Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation.
Weisschuh N, Sturm M, Baumann B, Audo I, Ayuso C, Bocquet B, Branham K, Brooks BP, Catalá-Mora J, Giorda R, Heckenlively JR, Hufnagel RB, Jacobson SG, Kellner U, Kitsiou-Tzeli S, Matet A, Martorell Sampol L, Meunier I, Rudolph G, Sharon D, Stingl K, Streubel B, Varsányi B, Wissinger B, Kohl S. Weisschuh N, et al. Among authors: giorda r. Hum Mutat. 2020 Jan;41(1):255-264. doi: 10.1002/humu.23920. Epub 2019 Sep 30. Hum Mutat. 2020. PMID: 31544997 Free PMC article.
Hidden pandemic: COVID-19-related stress, SLC6A4 methylation, and infants' temperament at 3 months.
Provenzi L, Mambretti F, Villa M, Grumi S, Citterio A, Bertazzoli E, Biasucci G, Decembrino L, Falcone R, Gardella B, Longo MR, Nacinovich R, Pisoni C, Prefumo F, Orcesi S, Scelsa B, Giorda R, Borgatti R. Provenzi L, et al. Among authors: giorda r. Sci Rep. 2021 Aug 2;11(1):15658. doi: 10.1038/s41598-021-95053-z. Sci Rep. 2021. PMID: 34341434 Free PMC article. Clinical Trial.
181 results