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Year Number of Results
2002 1
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2010 2
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Page 1
Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability.
Pérez Baca MDR, Jacobs EZ, Vantomme L, Leblanc P, Bogaert E, Dheedene A, De Cock L, Haghshenas S, Foroutan A, Levy MA, Kerkhof J, McConkey H, Chen CA, Batzir NA, Wang X, Palomares M, Carels M; ZFHX3 consortium; Dermaut B, Sadikovic B, Menten B, Yuan B, Vergult S, Callewaert B. Pérez Baca MDR, et al. Am J Hum Genet. 2024 Mar 7;111(3):509-528. doi: 10.1016/j.ajhg.2024.01.013. Epub 2024 Feb 26. Am J Hum Genet. 2024. PMID: 38412861
OTUD3: A Lys6 and Lys63 specific deubiquitinase in early vertebrate development.
Job F, Mai C, Villavicencio-Lorini P, Herfurth J, Neuhaus H, Hoffmann K, Pfirrmann T, Hollemann T. Job F, et al. Among authors: villavicencio lorini p. Biochim Biophys Acta Gene Regul Mech. 2023 Mar;1866(1):194901. doi: 10.1016/j.bbagrm.2022.194901. Epub 2022 Dec 9. Biochim Biophys Acta Gene Regul Mech. 2023. PMID: 36503125 Free article.
Livedoid vasculopathy: does hyperhomocysteinaemia play an aetiological role?
Marsch WC, Komatsuzaki S, Mueller A, Hagemann M, Lange D, Maemecke L, Villavicencio-Lorini P, Hoffmann K. Marsch WC, et al. Among authors: villavicencio lorini p. Eur J Dermatol. 2019 Jun 1;29(3):287-293. doi: 10.1684/ejd.2019.3554. Eur J Dermatol. 2019. PMID: 31389788
Publisher's Note: Cilia-localized GID/CTLH ubiquitin ligase complex regulates protein homeostasis of sonic hedgehog signaling components.
Hantel F, Liu H, Fechtner L, Neuhaus H, Ding J, Arlt D, Walentek P, Villavicencio-Lorini P, Gerhardt C, Hollemann T, Pfirrmann T. Hantel F, et al. Among authors: villavicencio lorini p. J Cell Sci. 2022 May 1;135(9):jcs260203. doi: 10.1242/jcs.260203. Epub 2022 May 11. J Cell Sci. 2022. PMID: 35543157 Free PMC article. No abstract available.
Against all odds: blended phenotypes of three single-gene defects.
Li Y, Salfelder A, Schwab KO, Grünert SC, Velten T, Lütjohann D, Villavicencio-Lorini P, Matysiak-Scholze U, Zabel B, Köttgen A, Lausch E. Li Y, et al. Among authors: villavicencio lorini p. Eur J Hum Genet. 2016 Aug;24(9):1274-9. doi: 10.1038/ejhg.2015.285. Epub 2016 Jan 27. Eur J Hum Genet. 2016. PMID: 26813946 Free PMC article.
Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation.
Kouz K, Lissewski C, Spranger S, Mitter D, Riess A, Lopez-Gonzalez V, Lüttgen S, Aydin H, von Deimling F, Evers C, Hahn A, Hempel M, Issa U, Kahlert AK, Lieb A, Villavicencio-Lorini P, Ballesta-Martinez MJ, Nampoothiri S, Ovens-Raeder A, Puchmajerová A, Satanovskij R, Seidel H, Unkelbach S, Zabel B, Kutsche K, Zenker M. Kouz K, et al. Among authors: villavicencio lorini p. Genet Med. 2016 Dec;18(12):1226-1234. doi: 10.1038/gim.2016.32. Epub 2016 Apr 21. Genet Med. 2016. PMID: 27101134 Free article.
20 results