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

Year Number of Results
1985 1
1987 1
1988 2
1989 1
1990 3
1992 6
1993 3
1994 2
1995 1
1996 5
1997 3
1998 1
1999 1
2000 2
2001 1
2002 2
2003 2
2004 3
2005 3
2006 1
2007 4
2008 5
2009 5
2010 5
2011 8
2012 17
2013 9
2014 19
2015 12
2016 2
2017 3
2018 1
2019 1
2024 0

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119 results

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Page 1
Inferring biallelism of two FSH receptor mutations associated with spontaneous ovarian hyperstimulation syndrome by evaluating FSH, LH and HCG cross-activity.
Lazzaretti C, Riccetti L, Sperduti S, Anzivino C, Brigante G, De Pascali F, Potì F, Rovei V, Restagno G, Mari C, Lussiana C, Benedetto C, Revelli A, Casarini L. Lazzaretti C, et al. Among authors: restagno g. Reprod Biomed Online. 2019 May;38(5):816-824. doi: 10.1016/j.rbmo.2018.12.021. Epub 2018 Dec 23. Reprod Biomed Online. 2019. PMID: 30910395
Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes.
Di Gregorio E, Riberi E, Belligni EF, Biamino E, Spielmann M, Ala U, Calcia A, Bagnasco I, Carli D, Gai G, Giordano M, Guala A, Keller R, Mandrile G, Arduino C, Maffè A, Naretto VG, Sirchia F, Sorasio L, Ungari S, Zonta A, Zacchetti G, Talarico F, Pappi P, Cavalieri S, Giorgio E, Mancini C, Ferrero M, Brussino A, Savin E, Gandione M, Pelle A, Giachino DF, De Marchi M, Restagno G, Provero P, Cirillo Silengo M, Grosso E, Buxbaum JD, Pasini B, De Rubeis S, Brusco A, Ferrero GB. Di Gregorio E, et al. Among authors: restagno g. Clin Genet. 2017 Oct;92(4):415-422. doi: 10.1111/cge.13009. Epub 2017 Jul 25. Clin Genet. 2017. PMID: 28295210
Monocytes of patients with amyotrophic lateral sclerosis linked to gene mutations display altered TDP-43 subcellular distribution.
De Marco G, Lomartire A, Calvo A, Risso A, De Luca E, Mostert M, Mandrioli J, Caponnetto C, Borghero G, Manera U, Canosa A, Moglia C, Restagno G, Fini N, Tarella C, Giordana MT, Rinaudo MT, Chiò A. De Marco G, et al. Among authors: restagno g. Neuropathol Appl Neurobiol. 2017 Feb;43(2):133-153. doi: 10.1111/nan.12328. Epub 2016 Jun 28. Neuropathol Appl Neurobiol. 2017. PMID: 27178390
ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion.
Chiò A, Mora G, Sabatelli M, Caponnetto C, Lunetta C, Traynor BJ, Johnson JO, Nalls MA, Calvo A, Moglia C, Borghero G, Trojsi F, La Bella V, Volanti P, Simone I, Salvi F, Logullo FO, Riva N, Carrera P, Giannini F, Mandrioli J, Tanel R, Capasso M, Tremolizzo L, Battistini S, Murru MR, Origone P, Zollino M, Penco S; ITALSGEN consortium; SARDINIALS consortium; Mazzini L, D'Alfonso S, Restagno G, Brunetti M, Barberis M, Conforti FL. Chiò A, et al. Among authors: restagno g. Neurobiol Aging. 2016 Mar;39:218.e5-8. doi: 10.1016/j.neurobiolaging.2015.11.027. Epub 2015 Dec 8. Neurobiol Aging. 2016. PMID: 26733254 Free PMC article.
Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications.
Di Gregorio E, Gai G, Botta G, Calcia A, Pappi P, Talarico F, Savin E, Ribotta M, Zonta A, Mancini C, Giorgio E, Cavalieri S, Restagno G, Ferrero GB, Viora E, Pasini B, Grosso E, Brusco A, Brussino A. Di Gregorio E, et al. Among authors: restagno g. Cytogenet Genome Res. 2015;147(1):10-6. doi: 10.1159/000442308. Epub 2015 Dec 12. Cytogenet Genome Res. 2015. PMID: 26658296 Free article.
C9ORF72 intermediate repeat expansion in patients affected by atypical parkinsonian syndromes or Parkinson's disease complicated by psychosis or dementia in a Sardinian population.
Cannas A, Solla P, Borghero G, Floris GL, Chio A, Mascia MM, Modugno N, Muroni A, Orofino G, Di Stefano F, Calvo A, Moglia C, Restagno G, Meloni M, Farris R, Ciaccio D, Puddu R, Vacca MI, Melis R, Murru MR, Tranquilli S, Corongiu D, Rolesu M, Cuccu S, Marrosu MG, Marrosu F. Cannas A, et al. Among authors: restagno g. J Neurol. 2015 Nov;262(11):2498-503. doi: 10.1007/s00415-015-7873-6. Epub 2015 Aug 15. J Neurol. 2015. PMID: 26275564 Free article.
ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry.
Borghero G, Pugliatti M, Marrosu F, Marrosu MG, Murru MR, Floris G, Cannas A, Parish LD, Cau TB, Loi D, Ticca A, Traccis S, Manera U, Canosa A, Moglia C, Calvo A, Barberis M, Brunetti M, Renton AE, Nalls MA, Traynor BJ, Restagno G, Chiò A; ITALSGEN and SARDINALS consortia. Borghero G, et al. Among authors: restagno g. Neurobiol Aging. 2015 Oct;36(10):2906.e1-5. doi: 10.1016/j.neurobiolaging.2015.06.013. Epub 2015 Jun 25. Neurobiol Aging. 2015. PMID: 26208502 Free PMC article.
HFE p.H63D polymorphism does not influence ALS phenotype and survival.
Chiò A, Mora G, Sabatelli M, Caponnetto C, Lunetta C, Traynor BJ, Johnson JO, Nalls MA, Calvo A, Moglia C, Borghero G, Monsurrò MR, La Bella V, Volanti P, Simone I, Salvi F, Logullo FO, Nilo R, Giannini F, Mandrioli J, Tanel R, Murru MR, Mandich P, Zollino M, Conforti FL, Penco S; ITALSGEN consortium; SARDINIALS consortium; Brunetti M, Barberis M, Restagno G. Chiò A, et al. Among authors: restagno g. Neurobiol Aging. 2015 Oct;36(10):2906.e7-11. doi: 10.1016/j.neurobiolaging.2015.06.016. Epub 2015 Jun 18. Neurobiol Aging. 2015. PMID: 26174855 Free PMC article.
The role of TREM2 R47H as a risk factor for Alzheimer's disease, frontotemporal lobar degeneration, amyotrophic lateral sclerosis, and Parkinson's disease.
Lill CM, Rengmark A, Pihlstrøm L, Fogh I, Shatunov A, Sleiman PM, Wang LS, Liu T, Lassen CF, Meissner E, Alexopoulos P, Calvo A, Chio A, Dizdar N, Faltraco F, Forsgren L, Kirchheiner J, Kurz A, Larsen JP, Liebsch M, Linder J, Morrison KE, Nissbrandt H, Otto M, Pahnke J, Partch A, Restagno G, Rujescu D, Schnack C, Shaw CE, Shaw PJ, Tumani H, Tysnes OB, Valladares O, Silani V, van den Berg LH, van Rheenen W, Veldink JH, Lindenberger U, Steinhagen-Thiessen E; SLAGEN Consortium; Teipel S, Perneczky R, Hakonarson H, Hampel H, von Arnim CAF, Olsen JH, Van Deerlin VM, Al-Chalabi A, Toft M, Ritz B, Bertram L. Lill CM, et al. Among authors: restagno g. Alzheimers Dement. 2015 Dec;11(12):1407-1416. doi: 10.1016/j.jalz.2014.12.009. Epub 2015 Apr 30. Alzheimers Dement. 2015. PMID: 25936935 Free PMC article.
119 results