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

Year Number of Results
1947 1
1953 2
1963 1
1967 3
1969 1
1972 3
1973 4
1975 1
1979 2
1980 2
1982 2
1983 1
1984 3
1985 5
1986 2
1987 3
1988 2
1989 8
1990 6
1991 11
1992 6
1993 4
1994 6
1995 6
1996 8
1997 4
1998 9
1999 9
2000 7
2001 8
2002 8
2003 5
2004 3
2005 6
2006 10
2007 9
2008 15
2009 19
2010 21
2011 21
2012 31
2013 21
2014 19
2015 19
2016 13
2017 19
2018 15
2019 18
2020 27
2021 24
2022 28
2023 30
2024 8

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472 results

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Page 1
The Genetic Landscape and Epidemiology of Phenylketonuria.
Hillert A, Anikster Y, Belanger-Quintana A, Burlina A, Burton BK, Carducci C, Chiesa AE, Christodoulou J, Đorđević M, Desviat LR, Eliyahu A, Evers RAF, Fajkusova L, Feillet F, Bonfim-Freitas PE, Giżewska M, Gundorova P, Karall D, Kneller K, Kutsev SI, Leuzzi V, Levy HL, Lichter-Konecki U, Muntau AC, Namour F, Oltarzewski M, Paras A, Perez B, Polak E, Polyakov AV, Porta F, Rohrbach M, Scholl-Bürgi S, Spécola N, Stojiljković M, Shen N, Santana-da Silva LC, Skouma A, van Spronsen F, Stoppioni V, Thöny B, Trefz FK, Vockley J, Yu Y, Zschocke J, Hoffmann GF, Garbade SF, Blau N. Hillert A, et al. Among authors: porta f. Am J Hum Genet. 2020 Aug 6;107(2):234-250. doi: 10.1016/j.ajhg.2020.06.006. Epub 2020 Jul 14. Am J Hum Genet. 2020. PMID: 32668217 Free PMC article.
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies.
Opladen T, López-Laso E, Cortès-Saladelafont E, Pearson TS, Sivri HS, Yildiz Y, Assmann B, Kurian MA, Leuzzi V, Heales S, Pope S, Porta F, García-Cazorla A, Honzík T, Pons R, Regal L, Goez H, Artuch R, Hoffmann GF, Horvath G, Thöny B, Scholl-Bürgi S, Burlina A, Verbeek MM, Mastrangelo M, Friedman J, Wassenberg T, Jeltsch K, Kulhánek J, Kuseyri Hübschmann O; International Working Group on Neurotransmitter related Disorders (iNTD). Opladen T, et al. Among authors: porta f. Orphanet J Rare Dis. 2020 May 26;15(1):126. doi: 10.1186/s13023-020-01379-8. Orphanet J Rare Dis. 2020. PMID: 32456656 Free PMC article. Review.
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study.
Groeneweg S, van Geest FS, Abacı A, Alcantud A, Ambegaonkar GP, Armour CM, Bakhtiani P, Barca D, Bertini ES, van Beynum IM, Brunetti-Pierri N, Bugiani M, Cappa M, Cappuccio G, Castellotti B, Castiglioni C, Chatterjee K, de Coo IFM, Coutant R, Craiu D, Crock P, DeGoede C, Demir K, Dica A, Dimitri P, Dolcetta-Capuzzo A, Dremmen MHG, Dubey R, Enderli A, Fairchild J, Gallichan J, George B, Gevers EF, Hackenberg A, Halász Z, Heinrich B, Huynh T, Kłosowska A, van der Knaap MS, van der Knoop MM, Konrad D, Koolen DA, Krude H, Lawson-Yuen A, Lebl J, Linder-Lucht M, Lorea CF, Lourenço CM, Lunsing RJ, Lyons G, Malikova J, Mancilla EE, McGowan A, Mericq V, Lora FM, Moran C, Müller KE, Oliver-Petit I, Paone L, Paul PG, Polak M, Porta F, Poswar FO, Reinauer C, Rozenkova K, Menevse TS, Simm P, Simon A, Singh Y, Spada M, van der Spek J, Stals MAM, Stoupa A, Subramanian GM, Tonduti D, Turan S, den Uil CA, Vanderniet J, van der Walt A, Wémeau JL, Wierzba J, de Wit MY, Wolf NI, Wurm M, Zibordi F, Zung A, Zwaveling-Soonawala N, Visser WE. Groeneweg S, et al. Among authors: porta f. Lancet Diabetes Endocrinol. 2020 Jul;8(7):594-605. doi: 10.1016/S2213-8587(20)30153-4. Lancet Diabetes Endocrinol. 2020. PMID: 32559475 Free PMC article.
Standardized pathology report for HER2 testing in compliance with 2023 ASCO/CAP updates and 2023 ESMO consensus statements on HER2-low breast cancer.
Ivanova M, Porta FM, D'Ercole M, Pescia C, Sajjadi E, Cursano G, De Camilli E, Pala O, Mazzarol G, Venetis K, Guerini-Rocco E, Curigliano G, Viale G, Fusco N. Ivanova M, et al. Among authors: porta fm. Virchows Arch. 2024 Jan;484(1):3-14. doi: 10.1007/s00428-023-03656-w. Epub 2023 Sep 28. Virchows Arch. 2024. PMID: 37770765 Free PMC article. Review.
Metaplastic breast cancer: an all-round multidisciplinary consensus.
Corso G, Criscitiello C, Nicosia L, Pesapane F, Vicini E, Magnoni F, Sibilio A, Zanzottera C, De Scalzi AM, Mannucci S, Marabelli M, Calvello M, Feroce I, Zagami P, Porta FM, Toesca A, Tarantino P, Nicolò E, Mazzarol G, La Vecchia C, Bonanni B, Leonardi MC, Veronesi P, Fusco N. Corso G, et al. Among authors: porta fm. Eur J Cancer Prev. 2023 Jul 1;32(4):348-363. doi: 10.1097/CEJ.0000000000000794. Epub 2023 May 12. Eur J Cancer Prev. 2023. PMID: 37021548
Restless legs syndrome in DNAJC12 deficiency.
Porta F, Neirotti A, Spada M. Porta F, et al. Neurol Sci. 2023 Jun;44(6):2167-2172. doi: 10.1007/s10072-023-06733-9. Epub 2023 Mar 10. Neurol Sci. 2023. PMID: 36897462
Ultrasound of the shoulder.
Petranova T, Vlad V, Porta F, Radunovic G, Micu MC, Nestorova R, Iagnocco A. Petranova T, et al. Among authors: porta f. Med Ultrason. 2012 Jun;14(2):133-40. Med Ultrason. 2012. PMID: 22675714 Free article. Review.
Breast Cancer with Brain Metastasis: Molecular Insights and Clinical Management.
Ivanova M, Porta FM, Giugliano F, Frascarelli C, Sajjadi E, Venetis K, Cursano G, Mazzarol G, Guerini-Rocco E, Curigliano G, Criscitiello C, Fusco N. Ivanova M, et al. Among authors: porta fm. Genes (Basel). 2023 May 26;14(6):1160. doi: 10.3390/genes14061160. Genes (Basel). 2023. PMID: 37372340 Free PMC article. Review.
Ultrasonography of the hip.
Nestorova R, Vlad V, Petranova T, Porta F, Radunovic G, Micu MC, Iagnocco A. Nestorova R, et al. Among authors: porta f. Med Ultrason. 2012 Sep;14(3):217-24. Med Ultrason. 2012. PMID: 22957327 Free article. Review.
Genealogy of breastfeeding.
Porta F, Mussa A, Baldassarre G, Perduca V, Farina D, Spada M, Ponzone A. Porta F, et al. Eur J Pediatr. 2016 Jan;175(1):105-12. doi: 10.1007/s00431-015-2605-6. Epub 2015 Aug 13. Eur J Pediatr. 2016. PMID: 26264144
472 results