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

Year Number of Results
1991 1
1993 1
2010 1
2013 1
2017 2
2018 2
2019 4
2020 3
2021 2
2022 1
2023 1
2024 0

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16 results

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Page 1
Allan-Herndon-Dudley Syndrome.
Sarret C, Oliver Petit I, Tonduti D. Sarret C, et al. Among authors: oliver petit i. 2010 Mar 9 [updated 2020 Jan 16]. 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. 2010 Mar 9 [updated 2020 Jan 16]. 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: 20301789 Free Books & Documents. 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: oliver petit i. 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.
[DICER1 constitutional pathogenic variant syndrome: Where are we in 2019?].
Réguerre Y, Golmard L, Brisse HJ, Oliver Petit I, Savagner F, Boudjemaa S, Gauthier-Villars M, Rod J, Fresneau B, Orbach D. Réguerre Y, et al. Among authors: oliver petit i. Bull Cancer. 2019 Dec;106(12):1177-1189. doi: 10.1016/j.bulcan.2019.08.016. Epub 2019 Oct 11. Bull Cancer. 2019. PMID: 31610911 Review. French.
Multinodular goitre is a gateway for molecular testing of DICER1 syndrome.
Oliver-Petit I, Bertozzi AI, Grunenwald S, Gambart M, Pigeon-Kerchiche P, Sadoul JL, Caron PJ, Savagner F. Oliver-Petit I, et al. Clin Endocrinol (Oxf). 2019 Nov;91(5):669-675. doi: 10.1111/cen.14074. Epub 2019 Sep 13. Clin Endocrinol (Oxf). 2019. PMID: 31408196
Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome.
Geoffron S, Abi Habib W, Chantot-Bastaraud S, Dubern B, Steunou V, Azzi S, Afenjar A, Busa T, Pinheiro Canton A, Chalouhi C, Dufourg MN, Esteva B, Fradin M, Geneviève D, Heide S, Isidor B, Linglart A, Morice Picard F, Naud-Saudreau C, Oliver Petit I, Philip N, Pienkowski C, Rio M, Rossignol S, Tauber M, Thevenon J, Vu-Hong TA, Harbison MD, Salem J, Brioude F, Netchine I, Giabicani E. Geoffron S, et al. Among authors: oliver petit i. J Clin Endocrinol Metab. 2018 Jul 1;103(7):2436-2446. doi: 10.1210/jc.2017-02152. J Clin Endocrinol Metab. 2018. PMID: 29659920
ETMR-like infantile cerebellar embryonal tumors in the extended morphologic spectrum of DICER1-related tumors.
Uro-Coste E, Masliah-Planchon J, Siegfried A, Blanluet M, Lambo S, Kool M, Roujeau T, Boetto S, Palenzuela G, Bertozzi AI, Gambart M, Coupier I, Oliver-Petit I, Golmard L, Julia S, Savagner F, Mohand-Oumoussa B, Tauziede-Espariat A, Delisle MB, Figarella-Branger D, Bourdeaut F, Rigau V. Uro-Coste E, et al. Among authors: oliver petit i. Acta Neuropathol. 2019 Jan;137(1):175-177. doi: 10.1007/s00401-018-1935-7. Epub 2018 Nov 16. Acta Neuropathol. 2019. PMID: 30446821 No abstract available.
16 results