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
1973 1
1975 2
1976 2
1978 2
1979 1
1992 1
1993 2
1994 1
1996 1
1998 2
2000 3
2001 4
2002 4
2003 2
2004 4
2005 2
2006 5
2007 5
2008 1
2009 1
2010 3
2011 6
2012 9
2013 7
2014 5
2015 6
2016 1
2017 5
2018 10
2019 8
2020 8
2021 15
2022 10
2023 13
2024 2

Text availability

Article attribute

Article type

Publication date

Search Results

137 results

Results by year

Filters applied: . Clear all
Page 1
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.
Laquerriere A, Jaber D, Abiusi E, Maluenda J, Mejlachowicz D, Vivanti A, Dieterich K, Stoeva R, Quevarec L, Nolent F, Biancalana V, Latour P, Sternberg D, Capri Y, Verloes A, Bessieres B, Loeuillet L, Attie-Bitach T, Martinovic J, Blesson S, Petit F, Beneteau C, Whalen S, Marguet F, Bouligand J, Héron D, Viot G, Amiel J, Amram D, Bellesme C, Bucourt M, Faivre L, Jouk PS, Khung S, Sigaudy S, Delezoide AL, Goldenberg A, Jacquemont ML, Lambert L, Layet V, Lyonnet S, Munnich A, Van Maldergem L, Piard J, Guimiot F, Landrieu P, Letard P, Pelluard F, Perrin L, Saint-Frison MH, Topaloglu H, Trestard L, Vincent-Delorme C, Amthor H, Barnerias C, Benachi A, Bieth E, Boucher E, Cormier-Daire V, Delahaye-Duriez A, Desguerre I, Eymard B, Francannet C, Grotto S, Lacombe D, Laffargue F, Legendre M, Martin-Coignard D, Mégarbané A, Mercier S, Nizon M, Rigonnot L, Prieur F, Quélin C, Ranjatoelina-Randrianaivo H, Resta N, Toutain A, Verhelst H, Vincent M, Colin E, Fallet-Bianco C, Granier M, Grigorescu R, Saada J, Gonzales M, Guiochon-Mantel A, Bessereau JL, Tawk M, Gut I, Gitiaux C, Melki J. Laquerriere A, et al. Among authors: resta n. J Med Genet. 2022 Jun;59(6):559-567. doi: 10.1136/jmedgenet-2020-107595. Epub 2021 Apr 5. J Med Genet. 2022. PMID: 33820833 Free PMC article.
ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk.
Stolarova L, Kleiblova P, Zemankova P, Stastna B, Janatova M, Soukupova J, Achatz MI, Ambrosone C, Apostolou P, Arun BK, Auer P, Barnard M, Bertelsen B; Biobank Japan; Blok MJ, Boddicker N, Brunet J, Burnside ES, Calvello M, Campbell I, Chan SH, Chen F, Chiang JB, Coppa A, Cortesi L, Crujeiras-González A; Consortium CZECANCA; De Leeneer K, De Putter R, DePersia A, Devereux L, Domchek S, Efremidis A, Engel C, Ernst C, Evans DGR, Feliubadaló L, Fostira F, Fuentes-Ríos O, Gómez-García EB, González S, Haiman C, Hansen TVO, Hauke J, Hodge J, Hu C, Huang H, Ishak NDB, Iwasaki Y, Konstantopoulou I, Kraft P, Lacey J, Lázaro C, Li N, Lim WK, Lindstrom S, Lori A, Martinez E, Martins A, Matsuda K, Matullo G, McInerny S, Michailidou K, Montagna M, Monteiro ANA, Mori L, Nathanson K, Neuhausen SL, Nevanlinna H, Olson JE, Palmer J, Pasini B, Patel A, Piane M, Poppe B, Radice P, Renieri A, Resta N, Richardson ME, Rosseel T, Ruddy KJ, Santamariña M, Dos Santos ES, Teras L, Toland AE, Trentham-Dietz A, Vachon CM, Volk AE, Weber-Lassalle N, Weitzel JN, Wiesmuller L, Winham S, Yadav S, Yannoukakos D, Yao S, Zampiga V, Zethoven M, Zhang ZW, Zima T, Spurdle AB, Vega A, Rossing M, Del Valle J, De… See abstract for full author list ➔ Stolarova L, et al. Among authors: resta n. Clin Cancer Res. 2023 Aug 15;29(16):3037-3050. doi: 10.1158/1078-0432.CCR-23-0212. Clin Cancer Res. 2023. PMID: 37449874 Free PMC article.
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
Grozeva D, Carss K, Spasic-Boskovic O, Tejada MI, Gecz J, Shaw M, Corbett M, Haan E, Thompson E, Friend K, Hussain Z, Hackett A, Field M, Renieri A, Stevenson R, Schwartz C, Floyd JA, Bentham J, Cosgrove C, Keavney B, Bhattacharya S; Italian X-linked Mental Retardation Project; UK10K Consortium; GOLD Consortium; Hurles M, Raymond FL. Grozeva D, et al. Hum Mutat. 2015 Dec;36(12):1197-204. doi: 10.1002/humu.22901. Epub 2015 Sep 30. Hum Mutat. 2015. PMID: 26350204 Free PMC article.
Lateralized and Segmental Overgrowth in Children.
Mussa A, Carli D, Cardaropoli S, Ferrero GB, Resta N. Mussa A, et al. Among authors: resta n. Cancers (Basel). 2021 Dec 7;13(24):6166. doi: 10.3390/cancers13246166. Cancers (Basel). 2021. PMID: 34944785 Free PMC article. Review.
Epidemiology of the disorders of the Pik3ca-related overgrowth spectrum (Pros).
Reynolds G, Cardaropoli S, Carli D, Luca M, Gazzin A, Coppo P, La Selva R, Piglionica M, Bagnulo R, Turchiano A, Ranieri C, Resta N, Mussa A. Reynolds G, et al. Among authors: resta n. Eur J Hum Genet. 2023 Nov;31(11):1333-1336. doi: 10.1038/s41431-023-01414-9. Epub 2023 Jun 26. Eur J Hum Genet. 2023. PMID: 37365400
The Role of Oxidative Stress in the Pathomechanism of Congenital Malformations.
Laforgia N, Di Mauro A, Favia Guarnieri G, Varvara D, De Cosmo L, Panza R, Capozza M, Baldassarre ME, Resta N. Laforgia N, et al. Among authors: resta n. Oxid Med Cell Longev. 2018 Dec 30;2018:7404082. doi: 10.1155/2018/7404082. eCollection 2018. Oxid Med Cell Longev. 2018. PMID: 30693064 Free PMC article. Review.
Impact of High-to-Moderate Penetrance Genes on Genetic Testing: Looking over Breast Cancer.
Turchiano A, Piglionica M, Martino S, Bagnulo R, Garganese A, De Luisi A, Chirulli S, Iacoviello M, Stasi M, Tabaku O, Meneleo E, Capurso M, Crocetta S, Lattarulo S, Krylovska Y, Lastella P, Forleo C, Stella A, Bukvic N, Simone C, Resta N. Turchiano A, et al. Among authors: resta n. Genes (Basel). 2023 Jul 26;14(8):1530. doi: 10.3390/genes14081530. Genes (Basel). 2023. PMID: 37628581 Free PMC article.
Primary melanoma of the testis: myth.
Fortarezza F, Trabucco SMR, De Luisi A, Resta N, Cimmino A, Marzullo A, Moschetta M, Lettini T, Serio G. Fortarezza F, et al. Among authors: resta n. Ann Transl Med. 2018 Apr;6(7):135. doi: 10.21037/atm.2018.02.14. Ann Transl Med. 2018. PMID: 29955595 Free PMC article. No abstract available.
Papillary thyroid carcinoma in Peutz-Jeghers syndrome.
Triggiani V, Guastamacchia E, Renzulli G, Giagulli VA, Tafaro E, Licchelli B, Resta F, Sabbà C, Bagnulo R, Lastella P, Stella A, Resta N. Triggiani V, et al. Among authors: resta n. Thyroid. 2011 Nov;21(11):1273-7. doi: 10.1089/thy.2011.0063. Epub 2011 Aug 30. Thyroid. 2011. PMID: 21877933 Review.
137 results