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

Year Number of Results
2002 6
2003 6
2004 4
2005 6
2006 5
2007 1
2008 1
2009 8
2010 11
2011 11
2012 5
2013 4
2014 7
2015 3
2016 1
2017 1
2019 1
2020 2
2021 2
2022 5
2024 0

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84 results

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Page 1
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease.
Calì E, Lin SJ, Rocca C, Sahin Y, Al Shamsi A, El Chehadeh S, Chaabouni M, Mankad K, Galanaki E, Efthymiou S, Sudhakar S, Athanasiou-Fragkouli A, Çelik T, Narlı N, Bianca S, Murphy D, De Carvalho Moreira FM; SYNaPS Study Group; Andrea Accogli, Petree C, Huang K, Monastiri K, Edizadeh M, Nardello R, Ognibene M, De Marco P, Ruggieri M, Zara F, Striano P, Şahin Y, Al-Gazali L, Abi Warde MT, Gerard B, Zifarelli G, Beetz C, Fortuna S, Soler M, Valente EM, Varshney G, Maroofian R, Salpietro V, Houlden H. Calì E, et al. Among authors: bianca s. Genet Med. 2022 Oct;24(10):2194-2203. doi: 10.1016/j.gim.2022.07.013. Epub 2022 Aug 24. Genet Med. 2022. PMID: 36001086 Free PMC article.
Familial Poland anomaly revisited.
Baban A, Torre M, Costanzo S, Gimelli S, Bianca S, Divizia MT, Sénès FM, Garavelli L, Rivieri F, Lerone M, Valle M, Ravazzolo R, Calevo MG. Baban A, et al. Among authors: bianca s. Am J Med Genet A. 2012 Jan;158A(1):140-9. doi: 10.1002/ajmg.a.34370. Epub 2011 Nov 22. Am J Med Genet A. 2012. PMID: 22110015 Review.
12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature.
Recalcati MP, Catusi I, Garzo M, Redaelli S, Massimello M, Maitz SB, Gentile M, Ponzi E, Orsini P, Zilio A, Montaldi A, Calò A, Capra AP, Briuglia S, La Rosa MA, Grillo L, Romano C, Bianca S, Malacarne M, Busè M, Piccione M, Larizza L. Recalcati MP, et al. Among authors: bianca s. Genes (Basel). 2022 Apr 27;13(5):780. doi: 10.3390/genes13050780. Genes (Basel). 2022. PMID: 35627165 Free PMC article. Review.
Consensus based recommendations for diagnosis and medical management of Poland syndrome (sequence).
Baldelli I, Baccarani A, Barone C, Bedeschi F, Bianca S, Calabrese O, Castori M, Catena N, Corain M, Costanzo S, Barbato GP, De Stefano S, Divizia MT, Feletti F, Formica M, Lando M, Lerone M, Lorenzetti F, Martinoli C, Mellini L, Nava MB, Porcellini G, Puliti A, Romanini MV, Rondoni F, Santi P, Sartini S, Senes F, Spada L, Tarani L, Valle M, Venturino C, Zaottini F, Torre M, Crimi M. Baldelli I, et al. Among authors: bianca s. Orphanet J Rare Dis. 2020 Aug 5;15(1):201. doi: 10.1186/s13023-020-01481-x. Orphanet J Rare Dis. 2020. PMID: 32758259 Free PMC article. Review.
Down's syndrome.
Bianca S. Bianca S. Lancet. 2003 Jul 5;362(9377):81. doi: 10.1016/S0140-6736(03)13826-3. Lancet. 2003. PMID: 12853216 No abstract available.
Down syndrome.
Bianca S, Bianca M. Bianca S, et al. Arch Med Res. 2005 Mar-Apr;36(2):183; author reply 184-5. doi: 10.1016/j.arcmed.2004.12.017. Arch Med Res. 2005. PMID: 15847955 No abstract available.
Considerations on the use of carrier screening testing in human reproduction: comparison between recommendations from the Italian Society of Human Genetics and other international societies.
Capalbo A, Gabbiato I, Caroselli S, Picchetta L, Cavalli P, Lonardo F, Bianca S, Giardina E, Zuccarello D. Capalbo A, et al. Among authors: bianca s. J Assist Reprod Genet. 2022 Nov;39(11):2581-2593. doi: 10.1007/s10815-022-02653-3. Epub 2022 Nov 12. J Assist Reprod Genet. 2022. PMID: 36370240 Free PMC article. Review.
Cloacal exstrophy: an epidemiologic study from the International Clearinghouse for Birth Defects Surveillance and Research.
Feldkamp ML, Botto LD, Amar E, Bakker MK, Bermejo-Sánchez E, Bianca S, Canfield MA, Castilla EE, Clementi M, Csaky-Szunyogh M, Leoncini E, Li Z, Lowry RB, Mastroiacovo P, Merlob P, Morgan M, Mutchinick OM, Rissmann A, Ritvanen A, Siffel C, Carey JC. Feldkamp ML, et al. Among authors: bianca s. Am J Med Genet C Semin Med Genet. 2011 Nov 15;157C(4):333-43. doi: 10.1002/ajmg.c.30317. Epub 2011 Oct 14. Am J Med Genet C Semin Med Genet. 2011. PMID: 22002951 Review.
[ANMCO/SICP/SIGO Consensus document: Pregnancy and congenital heart disease].
Bianca I, Geraci G, Gulizia MM, Egidy-Assenza G, Barone C, Campisi M, Alaimo A, Adorisio R, Comoglio F, Favilli S, Agnoletti G, Carmina MG, Chessa M, Sarubbi B, Mongiovì M, Russo MG, Bianca S, Canzone G, Bonvicini M, Viora E, Poli M. Bianca I, et al. Among authors: bianca s. G Ital Cardiol (Rome). 2016 Sep;17(9):687-755. doi: 10.1714/2448.25662. G Ital Cardiol (Rome). 2016. PMID: 27869889 Italian.
Bladder exstrophy: an epidemiologic study from the International Clearinghouse for Birth Defects Surveillance and Research, and an overview of the literature.
Siffel C, Correa A, Amar E, Bakker MK, Bermejo-Sánchez E, Bianca S, Castilla EE, Clementi M, Cocchi G, Csáky-Szunyogh M, Feldkamp ML, Landau D, Leoncini E, Li Z, Lowry RB, Marengo LK, Mastroiacovo P, Morgan M, Mutchinick OM, Pierini A, Rissmann A, Ritvanen A, Scarano G, Szabova E, Olney RS. Siffel C, et al. Among authors: bianca s. Am J Med Genet C Semin Med Genet. 2011 Nov 15;157C(4):321-32. doi: 10.1002/ajmg.c.30316. Epub 2011 Oct 14. Am J Med Genet C Semin Med Genet. 2011. PMID: 22002949 Free PMC article. Review.
84 results