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Results by year

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

Year Number of Results
1969 1
1970 2
1971 2
1972 2
1973 2
1974 4
1977 2
1978 3
1979 3
1980 1
1981 1
1982 2
1983 3
1984 7
1985 13
1986 6
1987 9
1988 13
1989 9
1990 11
1991 9
1992 17
1993 13
1994 24
1995 13
1996 17
1997 21
1998 10
1999 7
2000 8
2001 12
2002 10
2003 9
2004 12
2005 7
2006 9
2007 6
2008 5
2009 6
2010 8
2011 8
2012 6
2013 9
2014 6
2015 3
2016 8
2017 6
2018 5
2019 4
2020 7
2021 5
2022 9
2023 9
2024 3

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Article type

Publication date

Search Results

386 results

Results by year

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Page 1
Fragile X syndrome.
Hagerman RJ, Berry-Kravis E, Hazlett HC, Bailey DB Jr, Moine H, Kooy RF, Tassone F, Gantois I, Sonenberg N, Mandel JL, Hagerman PJ. Hagerman RJ, et al. Among authors: mandel jl. Nat Rev Dis Primers. 2017 Sep 29;3:17065. doi: 10.1038/nrdp.2017.65. Nat Rev Dis Primers. 2017. PMID: 28960184 Review.
Clinical practice guidelines for BRCA1 and BRCA2 genetic testing.
Pujol P, Barberis M, Beer P, Friedman E, Piulats JM, Capoluongo ED, Garcia Foncillas J, Ray-Coquard I, Penault-Llorca F, Foulkes WD, Turnbull C, Hanson H, Narod S, Arun BK, Aapro MS, Mandel JL, Normanno N, Lambrechts D, Vergote I, Anahory M, Baertschi B, Baudry K, Bignon YJ, Bollet M, Corsini C, Cussenot O, De la Motte Rouge T, Duboys de Labarre M, Duchamp F, Duriez C, Fizazi K, Galibert V, Gladieff L, Gligorov J, Hammel P, Imbert-Bouteille M, Jacot W, Kogut-Kubiak T, Lamy PJ, Nambot S, Neuzillet Y, Olschwang S, Rebillard X, Rey JM, Rideau C, Spano JP, Thomas F, Treilleux I, Vandromme M, Vendrell J, Vintraud M, Zarca D, Hughes KS, Alés Martínez JE. Pujol P, et al. Among authors: mandel jl. Eur J Cancer. 2021 Mar;146:30-47. doi: 10.1016/j.ejca.2020.12.023. Epub 2021 Feb 10. Eur J Cancer. 2021. PMID: 33578357 Free article. Review.
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.
Manole A, Efthymiou S, O'Connor E, Mendes MI, Jennings M, Maroofian R, Davagnanam I, Mankad K, Lopez MR, Salpietro V, Harripaul R, Badalato L, Walia J, Francklyn CS, Athanasiou-Fragkouli A, Sullivan R, Desai S, Baranano K, Zafar F, Rana N, Ilyas M, Horga A, Kara M, Mattioli F, Goldenberg A, Griffin H, Piton A, Henderson LB, Kara B, Aslanger AD, Raaphorst J, Pfundt R, Portier R, Shinawi M, Kirby A, Christensen KM, Wang L, Rosti RO, Paracha SA, Sarwar MT, Jenkins D; SYNAPS Study Group; Ahmed J, Santoni FA, Ranza E, Iwaszkiewicz J, Cytrynbaum C, Weksberg R, Wentzensen IM, Guillen Sacoto MJ, Si Y, Telegrafi A, Andrews MV, Baldridge D, Gabriel H, Mohr J, Oehl-Jaschkowitz B, Debard S, Senger B, Fischer F, van Ravenwaaij C, Fock AJM, Stevens SJC, Bähler J, Nasar A, Mantovani JF, Manzur A, Sarkozy A, Smith DEC, Salomons GS, Ahmed ZM, Riazuddin S, Riazuddin S, Usmani MA, Seibt A, Ansar M, Antonarakis SE, Vincent JB, Ayub M, Grimmel M, Jelsig AM, Hjortshøj TD, Karstensen HG, Hummel M, Haack TB, Jamshidi Y, Distelmaier F, Horvath R, Gleeson JG, Becker H, Mandel JL, Koolen DA, Houlden H. Manole A, et al. Among authors: mandel jl. Am J Hum Genet. 2020 Aug 6;107(2):311-324. doi: 10.1016/j.ajhg.2020.06.016. Epub 2020 Jul 31. Am J Hum Genet. 2020. PMID: 32738225 Free PMC article.
Frataxin fracas.
Cossée M, Campuzano V, Koutnikova H, Fischbeck K, Mandel JL, Koenig M, Bidichandani SI, Patel PI, Moltè MD, Cañizares J, De Frutos R, Pianese L, Cavalcanti F, Monticelli A, Cocozza S, Montermini L, Pandolfo M. Cossée M, et al. Among authors: mandel jl. Nat Genet. 1997 Apr;15(4):337-8. doi: 10.1038/ng0497-337. Nat Genet. 1997. PMID: 9090376 No abstract available.
What's Next for the Treatment of Carotid Artery Stenosis?
Rosen JL, Mandel JL, Nooromid M. Rosen JL, et al. Among authors: mandel jl. Innovations (Phila). 2023 Jan-Feb;18(1):20-21. doi: 10.1177/15569845221149973. Epub 2023 Feb 6. Innovations (Phila). 2023. PMID: 36744730 No abstract available.
X-linked adrenoleukodystrophy.
Aubourg P, Mandel JL. Aubourg P, et al. Among authors: mandel jl. Ann N Y Acad Sci. 1996 Dec 27;804:461-76. doi: 10.1111/j.1749-6632.1996.tb18637.x. Ann N Y Acad Sci. 1996. PMID: 8993565 Review. No abstract available.
Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X.
Leitão E, Schröder C, Parenti I, Dalle C, Rastetter A, Kühnel T, Kuechler A, Kaya S, Gérard B, Schaefer E, Nava C, Drouot N, Engel C, Piard J, Duban-Bedu B, Villard L, Stegmann APA, Vanhoutte EK, Verdonschot JAJ, Kaiser FJ, Tran Mau-Them F, Scala M, Striano P, Frints SGM, Argilli E, Sherr EH, Elder F, Buratti J, Keren B, Mignot C, Héron D, Mandel JL, Gecz J, Kalscheuer VM, Horsthemke B, Piton A, Depienne C. Leitão E, et al. Among authors: mandel jl. Nat Commun. 2022 Nov 2;13(1):6570. doi: 10.1038/s41467-022-34264-y. Nat Commun. 2022. PMID: 36323681 Free PMC article.
[Myotubular myopathy].
Guiraud-Chaumeil C, Laporte J, Mandel JL, Warter JM. Guiraud-Chaumeil C, et al. Among authors: mandel jl. Rev Neurol (Paris). 2000 Nov;156(11):960-4. Rev Neurol (Paris). 2000. PMID: 11119047 Review. French.
Dystrophin. The gene and its product.
Mandel JL. Mandel JL. Nature. 1989 Jun 22;339(6226):584-6. doi: 10.1038/339584a0. Nature. 1989. PMID: 2660004 Review. No abstract available.
386 results