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Year Number of Results
2003 1
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2007 2
2009 1
2011 1
2014 1
2016 1
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2018 1
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2020 2
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2022 4
2023 4
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26 results

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Page 1
PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals.
Kampmeier A, Leitão E, Parenti I, Beygo J, Depienne C, Bramswig NC, Hsieh TC, Afenjar A, Beck-Wödl S, Grasshoff U, Haack TB, Bijlsma EK, Ruivenkamp C, Lausberg E, Elbracht M, Haanpää MK, Koillinen H, Heinrich U, Rost I, Jamra RA, Popp D, Koch-Hogrebe M, Rostasy K, López-González V, Sanchez-Soler MJ, Macedo C, Schmetz A, Steinborn C, Weidensee S, Lesmann H, Marbach F, Caro P, Schaaf CP, Krawitz P, Wieczorek D, Kaiser FJ, Kuechler A. Kampmeier A, et al. Among authors: leitao e. Front Cell Dev Biol. 2023 Jan 16;10:1020609. doi: 10.3389/fcell.2022.1020609. eCollection 2022. Front Cell Dev Biol. 2023. PMID: 36726590 Free PMC article.
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.
Parenti I, Lehalle D, Nava C, Torti E, Leitão E, Person R, Mizuguchi T, Matsumoto N, Kato M, Nakamura K, de Man SA, Cope H, Shashi V; Undiagnosed Diseases Network; Friedman J, Joset P, Steindl K, Rauch A, Muffels I, van Hasselt PM, Petit F, Smol T, Le Guyader G, Bilan F, Sorlin A, Vitobello A, Philippe C, van de Laar IMBH, van Slegtenhorst MA, Campeau PM, Au PYB, Nakashima M, Saitsu H, Yamamoto T, Nomura Y, Louie RJ, Lyons MJ, Dobson A, Plomp AS, Motazacker MM, Kaiser FJ, Timberlake AT, Fuchs SA, Depienne C, Mignot C. Parenti I, et al. Among authors: leitao e. Hum Genet. 2021 Jul;140(7):1109-1120. doi: 10.1007/s00439-021-02283-2. Epub 2021 May 4. Hum Genet. 2021. PMID: 33944996 Free PMC article.
Early-set POMC methylation variability is accompanied by increased risk for obesity and is addressable by MC4R agonist treatment.
Lechner L, Opitz R, Silver MJ, Krabusch PM, Prentice AM, Field MS, Stachelscheid H, Leitão E, Schröder C, Fernandez Vallone V, Horsthemke B, Jöckel KH, Schmidt B, Nöthen MM, Hoffmann P, Herms S, Kleyn PW, Megges M, Blume-Peytavi U, Weiss K, Mai K, Blankenstein O, Obermayer B, Wiegand S, Kühnen P. Lechner L, et al. Among authors: leitao e. Sci Transl Med. 2023 Jul 19;15(705):eadg1659. doi: 10.1126/scitranslmed.adg1659. Epub 2023 Jul 19. Sci Transl Med. 2023. PMID: 37467315
The different clinical facets of SYN1-related neurodevelopmental disorders.
Parenti I, Leitão E, Kuechler A, Villard L, Goizet C, Courdier C, Bayat A, Rossi A, Julia S, Bruel AL, Tran Mau-Them F, Nambot S, Lehalle D, Willems M, Lespinasse J, Ghoumid J, Caumes R, Smol T, El Chehadeh S, Schaefer E, Abi-Warde MT, Keren B, Afenjar A, Tabet AC, Levy J, Maruani A, Aledo-Serrano Á, Garming W, Milleret-Pignot C, Chassevent A, Koopmans M, Verbeek NE, Person R, Belles R, Bellus G, Salbert BA, Kaiser FJ, Mazzola L, Convers P, Perrin L, Piton A, Wiegand G, Accogli A, Brancati F, Benfenati F, Chatron N, Lewis-Smith D, Thomas RH, Zara F, Striano P, Lesca G, Depienne C. Parenti I, et al. Among authors: leitao e. Front Cell Dev Biol. 2022 Dec 8;10:1019715. doi: 10.3389/fcell.2022.1019715. eCollection 2022. Front Cell Dev Biol. 2022. PMID: 36568968 Free PMC article.
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. Nat Commun. 2022 Nov 2;13(1):6570. doi: 10.1038/s41467-022-34264-y. Nat Commun. 2022. PMID: 36323681 Free PMC article.
Cyanobacterial hydrogenases: diversity, regulation and applications.
Tamagnini P, Leitão E, Oliveira P, Ferreira D, Pinto F, Harris DJ, Heidorn T, Lindblad P. Tamagnini P, et al. Among authors: leitao e. FEMS Microbiol Rev. 2007 Nov;31(6):692-720. doi: 10.1111/j.1574-6976.2007.00085.x. Epub 2007 Sep 26. FEMS Microbiol Rev. 2007. PMID: 17903205 Free article. Review.
Genome-wide case-only analysis of gene-gene interactions with known Parkinson's disease risk variants reveals link between LRRK2 and SYT10.
Aleknonytė-Resch M, Trinh J, Leonard H, Delcambre S, Leitão E, Lai D, Smajić S, Orr-Urtreger A, Thaler A, Blauwendraat C, Sharma A, Makarious MB, Kim JJ, Lake J, Rahmati P, Freitag-Wolf S, Seibler P, Foroud T, Singleton AB; International Parkinson Disease Genomics Consortium; Grünewald A, Kaiser F, Klein C, Krawczak M, Dempfle A. Aleknonytė-Resch M, et al. Among authors: leitao e. NPJ Parkinsons Dis. 2023 Jun 29;9(1):102. doi: 10.1038/s41531-023-00550-9. NPJ Parkinsons Dis. 2023. PMID: 37386035 Free PMC article.
Epigenetic dynamics of monocyte-to-macrophage differentiation.
Wallner S, Schröder C, Leitão E, Berulava T, Haak C, Beißer D, Rahmann S, Richter AS, Manke T, Bönisch U, Arrigoni L, Fröhler S, Klironomos F, Chen W, Rajewsky N, Müller F, Ebert P, Lengauer T, Barann M, Rosenstiel P, Gasparoni G, Nordström K, Walter J, Brors B, Zipprich G, Felder B, Klein-Hitpass L, Attenberger C, Schmitz G, Horsthemke B. Wallner S, et al. Among authors: leitao e. Epigenetics Chromatin. 2016 Jul 29;9:33. doi: 10.1186/s13072-016-0079-z. eCollection 2016. Epigenetics Chromatin. 2016. PMID: 27478504 Free PMC article.
Correction: Association of Rare Genetic Variants in Opioid Receptors with Tourette Syndrome.
Depienne C, Ciura S, Trouillard O, Bouteiller D, Leitão E, Nava C, Keren B, Marie Y, Guegan J, Forlani S, Brice A, Anheim M, Agid Y, Krack P, Damier P, Viallet F, Houeto JL, Durif F, Vidailhet M, Worbe Y, Roze E, Kabashi E, Hartmann A. Depienne C, et al. Among authors: leitao e. Tremor Other Hyperkinet Mov (N Y). 2023 Jul 14;13:22. doi: 10.5334/tohm.792. eCollection 2023. Tremor Other Hyperkinet Mov (N Y). 2023. PMID: 37457636 Free PMC article.
26 results