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
1963 1
1976 4
1979 1
1980 1
1982 3
1984 2
1985 1
1986 5
1987 2
1988 4
1989 1
1990 1
1991 1
1992 1
1993 3
1994 2
1995 1
1996 2
1997 2
1999 2
2000 3
2001 1
2002 1
2003 3
2004 2
2005 3
2006 4
2007 1
2008 5
2009 2
2010 6
2011 5
2012 2
2013 2
2014 4
2015 4
2016 4
2017 3
2018 8
2019 8
2020 1
2021 4
2022 4
2023 2
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

119 results

Results by year

Filters applied: . Clear all
Page 1
Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.
Brioude F, Kalish JM, Mussa A, Foster AC, Bliek J, Ferrero GB, Boonen SE, Cole T, Baker R, Bertoletti M, Cocchi G, Coze C, De Pellegrin M, Hussain K, Ibrahim A, Kilby MD, Krajewska-Walasek M, Kratz CP, Ladusans EJ, Lapunzina P, Le Bouc Y, Maas SM, Macdonald F, Õunap K, Peruzzi L, Rossignol S, Russo S, Shipster C, Skórka A, Tatton-Brown K, Tenorio J, Tortora C, Grønskov K, Netchine I, Hennekam RC, Prawitt D, Tümer Z, Eggermann T, Mackay DJG, Riccio A, Maher ER. Brioude F, et al. Among authors: cocchi g. Nat Rev Endocrinol. 2018 Apr;14(4):229-249. doi: 10.1038/nrendo.2017.166. Epub 2018 Jan 29. Nat Rev Endocrinol. 2018. PMID: 29377879 Free PMC article. Review.
Prenatal diagnosis and prevalence of critical congenital heart defects: an international retrospective cohort study.
Bakker MK, Bergman JEH, Krikov S, Amar E, Cocchi G, Cragan J, de Walle HEK, Gatt M, Groisman B, Liu S, Nembhard WN, Pierini A, Rissmann A, Chidambarathanu S, Sipek A Jr, Szabova E, Tagliabue G, Tucker D, Mastroiacovo P, Botto LD. Bakker MK, et al. Among authors: cocchi g. BMJ Open. 2019 Jul 2;9(7):e028139. doi: 10.1136/bmjopen-2018-028139. BMJ Open. 2019. PMID: 31270117 Free PMC article.
Down Syndrome: how to communicate the diagnosis.
Gori C, Cocchi G, Corvaglia LT, Ramacieri G, Pulina F, Sperti G, Cagnazzo V, Catapano F, Strippoli P, Cordelli DM, Locatelli C. Gori C, et al. Among authors: cocchi g. Ital J Pediatr. 2023 Feb 9;49(1):18. doi: 10.1186/s13052-023-01419-6. Ital J Pediatr. 2023. PMID: 36759877 Free PMC article. Review.
Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype-phenotype association.
Pelleri MC, Locatelli C, Mattina T, Bonaglia MC, Piazza F, Magini P, Antonaros F, Ramacieri G, Vione B, Vitale L, Seri M, Strippoli P, Cocchi G, Piovesan A, Caracausi M. Pelleri MC, et al. Among authors: cocchi g. BMC Med Genomics. 2022 Dec 21;15(1):266. doi: 10.1186/s12920-022-01422-6. BMC Med Genomics. 2022. PMID: 36544206 Free PMC article.
Prenatal profile of Pallister-Killian syndrome: Retrospective analysis of 114 pregnancies, literature review and approach to prenatal diagnosis.
Salzano E, Raible SE, Kaur M, Wilkens A, Sperti G, Tilton RK, Bettini LR, Rocca A, Cocchi G, Selicorni A, Conlin LK, McEldrew D, Gupta R, Thakur S, Izumi K, Krantz ID. Salzano E, et al. Among authors: cocchi g. Am J Med Genet A. 2018 Dec;176(12):2575-2586. doi: 10.1002/ajmg.a.40499. Epub 2018 Oct 5. Am J Med Genet A. 2018. PMID: 30289601 Review.
Plasma metabolome and cognitive skills in Down syndrome.
Antonaros F, Ghini V, Pulina F, Ramacieri G, Cicchini E, Mannini E, Martelli A, Feliciello A, Lanfranchi S, Onnivello S, Vianello R, Locatelli C, Cocchi G, Pelleri MC, Vitale L, Strippoli P, Luchinat C, Turano P, Piovesan A, Caracausi M. Antonaros F, et al. Among authors: cocchi g. Sci Rep. 2020 Jun 26;10(1):10491. doi: 10.1038/s41598-020-67195-z. Sci Rep. 2020. PMID: 32591596 Free PMC article.
Recommendations of the Scientific Committee of the Italian Beckwith-Wiedemann Syndrome Association on the diagnosis, management and follow-up of the syndrome.
Mussa A, Di Candia S, Russo S, Catania S, De Pellegrin M, Di Luzio L, Ferrari M, Tortora C, Meazzini MC, Brusati R, Milani D, Zampino G, Montirosso R, Riccio A, Selicorni A, Cocchi G, Ferrero GB. Mussa A, et al. Among authors: cocchi g. Eur J Med Genet. 2016 Jan;59(1):52-64. doi: 10.1016/j.ejmg.2015.11.008. Epub 2015 Nov 22. Eur J Med Genet. 2016. PMID: 26592461 Review.
Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.
Martinelli S, Krumbach OHF, Pantaleoni F, Coppola S, Amin E, Pannone L, Nouri K, Farina L, Dvorsky R, Lepri F, Buchholzer M, Konopatzki R, Walsh L, Payne K, Pierpont ME, Vergano SS, Langley KG, Larsen D, Farwell KD, Tang S, Mroske C, Gallotta I, Di Schiavi E, Della Monica M, Lugli L, Rossi C, Seri M, Cocchi G, Henderson L, Baskin B, Alders M, Mendoza-Londono R, Dupuis L, Nickerson DA, Chong JX; University of Washington Center for Mendelian Genomics; Meeks N, Brown K, Causey T, Cho MT, Demuth S, Digilio MC, Gelb BD, Bamshad MJ, Zenker M, Ahmadian MR, Hennekam RC, Tartaglia M, Mirzaa GM. Martinelli S, et al. Among authors: cocchi g. Am J Hum Genet. 2018 Feb 1;102(2):309-320. doi: 10.1016/j.ajhg.2017.12.015. Epub 2018 Jan 25. Am J Hum Genet. 2018. PMID: 29394990 Free PMC article.
A reassessment of Jackson's checklist and identification of two Down syndrome sub-phenotypes.
Locatelli C, Onnivello S, Gori C, Ramacieri G, Pulina F, Marcolin C, Vianello R, Vione B, Caracausi M, Pelleri MC, Vitale L, Pirazzoli GL, Cocchi G, Corvaglia L, Strippoli P, Antonaros F, Piovesan A, Lanfranchi S. Locatelli C, et al. Among authors: cocchi g. Sci Rep. 2022 Feb 24;12(1):3104. doi: 10.1038/s41598-022-06984-0. Sci Rep. 2022. PMID: 35210468 Free PMC article.
Acardia: epidemiologic findings and literature review from the International Clearinghouse for Birth Defects Surveillance and Research.
Botto LD, Feldkamp ML, Amar E, Carey JC, Castilla EE, Clementi M, Cocchi G, de Walle HE, Halliday J, Leoncini E, Li Z, Lowry RB, Marengo LK, Martínez-Frías ML, Merlob P, Morgan M, Muñoz LL, Rissmann A, Ritvanen A, Scarano G, Mastroiacovo P. Botto LD, et al. Among authors: cocchi g. Am J Med Genet C Semin Med Genet. 2011 Nov 15;157C(4):262-73. doi: 10.1002/ajmg.c.30318. Epub 2011 Oct 14. Am J Med Genet C Semin Med Genet. 2011. PMID: 22002952 Review.
119 results