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

Year Number of Results
1965 1
1969 2
1971 1
1991 2
1992 1
1993 2
1997 1
2001 2
2004 3
2005 3
2006 3
2007 1
2008 2
2011 4
2012 6
2013 6
2014 6
2015 6
2016 11
2017 12
2018 13
2019 6
2020 16
2021 21
2022 12
2023 17
2024 6

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Search Results

145 results

Results by year

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Page 1
Snyder-Robinson Syndrome.
Schwartz CE, Peron A, Kutler MJ. Schwartz CE, et al. Among authors: peron a. 2013 Jun 27 [updated 2020 Feb 13]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2013 Jun 27 [updated 2020 Feb 13]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 23805436 Free Books & Documents. Review.
BCL11A-Related Intellectual Disability.
Peron A, Bradbury K, Viskochil DH, Dias C. Peron A, et al. 2019 Sep 26. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2019 Sep 26. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 31556984 Free Books & Documents. Review.
Tuberous sclerosis complex.
Peron A, Northrup H. Peron A, et al. Am J Med Genet C Semin Med Genet. 2018 Sep;178(3):274-277. doi: 10.1002/ajmg.c.31657. Epub 2018 Oct 16. Am J Med Genet C Semin Med Genet. 2018. PMID: 30325570 No abstract available.
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays.
Ganapathi M, Matsuoka LS, March M, Li D, Brokamp E, Benito-Sanz S, White SM, Lachlan K, Ahimaz P, Sewda A, Bastarache L, Thomas-Wilson A, Stoler JM, Bramswig NC, Baptista J, Stals K, Demurger F, Cogne B, Isidor B, Bedeschi MF, Peron A, Amiel J, Zackai E, Schacht JP, Iglesias AD, Morton J, Schmetz A; Undiagnosed Diseases Network; Seidel V, Lucia S, Baskin SM, Thiffault I, Cogan JD, Gordon CT, Chung WK, Bowdin S, Bhoj E. Ganapathi M, et al. Among authors: peron a. Eur J Hum Genet. 2023 Oct;31(10):1117-1124. doi: 10.1038/s41431-023-01434-5. Epub 2023 Jul 27. Eur J Hum Genet. 2023. PMID: 37500725
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes.
Scala M, Nishikawa M, Ito H, Tabata H, Khan T, Accogli A, Davids L, Ruiz A, Chiurazzi P, Cericola G, Schulte B, Monaghan KG, Begtrup A, Torella A, Pinelli M, Denommé-Pichon AS, Vitobello A, Racine C, Mancardi MM, Kiss C, Guerin A, Wu W, Gabau Vila E, Mak BC, Martinez-Agosto JA, Gorin MB, Duz B, Bayram Y, Carvalho CMB, Vengoechea JE, Chitayat D, Tan TY, Callewaert B, Kruse B, Bird LM, Faivre L, Zollino M, Biskup S; Undiagnosed Diseases Network; Telethon Undiagnosed Diseases Program; Striano P, Nigro V, Severino M, Capra V, Costain G, Nagata KI. Scala M, et al. Brain. 2022 Sep 14;145(9):3308-3327. doi: 10.1093/brain/awac106. Brain. 2022. PMID: 35851598 Free PMC article.
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.
Morleo M, Venditti R, Theodorou E, Briere LC, Rosello M, Tirozzi A, Tammaro R, Al-Badri N, High FA, Shi J; Undiagnosed Diseases Network; Telethon Undiagnosed Diseases Program; Putti E, Ferrante L, Cetrangolo V, Torella A, Walker MA, Tenconi R, Iascone M, Mei D, Guerrini R, van der Smagt J, Kroes HY, van Gassen KLI, Bilal M, Umair M, Pingault V, Attie-Bitach T, Amiel J, Ejaz R, Rodan L, Zollino M, Agrawal PB, Del Bene F, Nigro V, Sweetser DA, Franco B. Morleo M, et al. Am J Hum Genet. 2023 Aug 3;110(8):1377-1393. doi: 10.1016/j.ajhg.2023.06.012. Epub 2023 Jul 13. Am J Hum Genet. 2023. PMID: 37451268 Free PMC article.
A first attempt at a holistic analysis of various influencing factors on the fish fauna in the Eastern European Alps.
Schmölz K, Bottarin R, Felber A, Lassacher F, Lehne F, Mark W, Niederwanger M, Niedrist GH, Oberarzbacher S, Pelster B, Peron A, Persiano S, Schletterer M, Schwarzenberger R, Scotti A, Thaler M, Walde J, Wieser J, Tasser E. Schmölz K, et al. Among authors: peron a. Sci Total Environ. 2022 Feb 20;808:151886. doi: 10.1016/j.scitotenv.2021.151886. Epub 2021 Nov 23. Sci Total Environ. 2022. PMID: 34822900
A novel mutation in RHAG causing Rhnull phenotype in Colombia.
Junca TG, Pinilla JJ, Sanjuanelo M, Lopez K, Dezan MR, Peron AC, Oliveira VB, Conrado MCAV, Rocha V, Mendrone-Júnior A, Dinardo CL. Junca TG, et al. Among authors: peron ac. Transfusion. 2021 Sep;61(9):E62-E64. doi: 10.1111/trf.16596. Epub 2021 Jul 26. Transfusion. 2021. PMID: 34309026 No abstract available.
145 results