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Page 1
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy.
Helbig I, Lopez-Hernandez T, Shor O, Galer P, Ganesan S, Pendziwiat M, Rademacher A, Ellis CA, Hümpfer N, Schwarz N, Seiffert S, Peeden J, Shen J, Štěrbová K, Hammer TB, Møller RS, Shinde DN, Tang S, Smith L, Poduri A, Krause R, Benninger F, Helbig KL, Haucke V, Weber YG; EuroEPINOMICS-RES Consortium; GRIN Consortium. Helbig I, et al. Among authors: peeden j. Am J Hum Genet. 2019 Jun 6;104(6):1060-1072. doi: 10.1016/j.ajhg.2019.04.001. Epub 2019 May 16. Am J Hum Genet. 2019. PMID: 31104773 Free PMC article.
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.
Galosi S, Edani BH, Martinelli S, Hansikova H, Eklund EA, Caputi C, Masuelli L, Corsten-Janssen N, Srour M, Oegema R, Bosch DGM, Ellis CA, Amlie-Wolf L, Accogli A, Atallah I, Averdunk L, Barañano KW, Bei R, Bagnasco I, Brusco A, Demarest S, Alaix AS, Di Bonaventura C, Distelmaier F, Elmslie F, Gan-Or Z, Good JM, Gripp K, Kamsteeg EJ, Macnamara E, Marcelis C, Mercier N, Peeden J, Pizzi S, Pannone L, Shinawi M, Toro C, Verbeek NE, Venkateswaran S, Wheeler PG, Zdrazilova L, Zhang R, Zorzi G, Guerrini R, Sessa WC, Lefeber DJ, Tartaglia M, Hamdan FF, Grabińska KA, Leuzzi V. Galosi S, et al. Among authors: peeden j. Brain. 2022 Mar 29;145(1):208-223. doi: 10.1093/brain/awab299. Brain. 2022. PMID: 34382076 Free PMC article.
Spondylometaphyseal dysplasia, Sedaghatian type.
Peeden JN Jr, Rimoin DL, Lachman RS, Dyer ML, Gerard D, Gruber HE. Peeden JN Jr, et al. Am J Med Genet. 1992 Nov 15;44(5):651-6. doi: 10.1002/ajmg.1320440525. Am J Med Genet. 1992. PMID: 1481828
Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP.
Van Dijck A, Vulto-van Silfhout AT, Cappuyns E, van der Werf IM, Mancini GM, Tzschach A, Bernier R, Gozes I, Eichler EE, Romano C, Lindstrand A, Nordgren A; ADNP Consortium; Kvarnung M, Kleefstra T, de Vries BBA, Küry S, Rosenfeld JA, Meuwissen ME, Vandeweyer G, Kooy RF. Van Dijck A, et al. Biol Psychiatry. 2019 Feb 15;85(4):287-297. doi: 10.1016/j.biopsych.2018.02.1173. Epub 2018 Mar 15. Biol Psychiatry. 2019. PMID: 29724491 Free PMC article.
Ring chromosome 6: variability in phenotypic expression.
Peeden JN, Scarbrough P, Taysi K, Wilroy RS, Finley S, Luthardt F, Martens P, Howard-Peebles PN. Peeden JN, et al. Am J Med Genet. 1983 Dec;16(4):563-73. doi: 10.1002/ajmg.1320160413. Am J Med Genet. 1983. PMID: 6660249
Hypertelorism-hypospadias syndrome.
Noe HN, Peeden JN, Jerkins GR, Wilroy RS Jr. Noe HN, et al. Among authors: peeden jn. J Urol. 1984 Nov;132(5):951-2. doi: 10.1016/s0022-5347(17)49961-7. J Urol. 1984. PMID: 6149320
Prune perineum.
Peeden JN Jr, Wilroy RS Jr, Soper RG. Peeden JN Jr, et al. Teratology. 1979 Oct;20(2):233-6. doi: 10.1002/tera.1420200207. Teratology. 1979. PMID: 524297
17 results