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2010 2
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Page 1
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.
van der Spek J, den Hoed J, Snijders Blok L, Dingemans AJM, Schijven D, Nellaker C, Venselaar H, Astuti GDN, Barakat TS, Bebin EM, Beck-Wödl S, Beunders G, Brown NJ, Brunet T, Brunner HG, Campeau PM, Čuturilo G, Gilissen C, Haack TB, Hüning I, Husain RA, Kamien B, Lim SC, Lovrecic L, Magg J, Maver A, Miranda V, Monteil DC, Ockeloen CW, Pais LS, Plaiasu V, Raiti L, Richmond C, Rieß A, Schwaibold EMC, Simon MEH, Spranger S, Tan TY, Thompson ML, de Vries BBA, Wilkins EJ, Willemsen MH, Francks C, Vissers LELM, Fisher SE, Kleefstra T. van der Spek J, et al. Among authors: plaiasu v. Genet Med. 2022 Jun;24(6):1283-1296. doi: 10.1016/j.gim.2022.02.014. Epub 2022 Mar 26. Genet Med. 2022. PMID: 35346573 Free article.
Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder.
Pérez Baca MDR, Palomares-Bralo M, Vanhooydonck M, Hamerlinck L, D'haene E, Leimbacher S, Jacobs EZ, De Cock L, D'haenens E, Dheedene A, Malfait Z, Vantomme L, Silva A, Rooney K, Zhao X, Saeidian AH, Owen NM, Santos-Simarro F, Lleuger-Pujol R, García-Miñaúr S, Losantos-García I, Menten B, Gestri G, Ragge N; ZFHX4 consortium; Sadikovic B, Bogaert E, Vleminckx K, Naert T, Syx D, Callewaert B, Vergult S. Pérez Baca MDR, et al. Am J Hum Genet. 2025 Jun 5;112(6):1388-1414. doi: 10.1016/j.ajhg.2025.04.008. Epub 2025 May 13. Am J Hum Genet. 2025. PMID: 40367947
The Role of Video-EEG Monitoring in Lesch-Nyhan Syndrome.
Roza E, Baloi AD, Plaiasu V, Teleanu RI. Roza E, et al. Among authors: plaiasu v. Maedica (Bucur). 2023 Jun;18(2):348-351. doi: 10.26574/maedica.2023.18.2.348. Maedica (Bucur). 2023. PMID: 37588833 Free PMC article.
Evolution of mobility, pain/discomfort, self-care, and mental health in patients with alpha-mannosidosis: an international caregiver and patient survey.
Stepien KM, Thomas S, Hennermann JB, Lampe C, Muschol NM, Ballesta-Martínez MJ, Cruz J, López-Rodríguez M, Barth A, Magner M, Lund AM, Plaiasu V, Ballabeni A, Donà F, Morgan HM, Guffon N. Stepien KM, et al. Among authors: plaiasu v. Orphanet J Rare Dis. 2025 May 7;20(1):217. doi: 10.1186/s13023-025-03694-4. Orphanet J Rare Dis. 2025. PMID: 40336024 Free PMC article.
Update in genetics.
Plaiasu V. Plaiasu V. Maedica (Bucur). 2011 Jan;6(1):70. Maedica (Bucur). 2011. PMID: 21977200 Free PMC article. No abstract available.
X-Linked agammaglobulinemia in a child with Klinefelter's syndrome.
Cochino AV, Janda A, Ravcukova B, Plaiasu V, Ochiana D, Gherghina I, Freiberger T. Cochino AV, et al. Among authors: plaiasu v. J Clin Immunol. 2014 Feb;34(2):142-5. doi: 10.1007/s10875-013-9986-y. Epub 2014 Jan 30. J Clin Immunol. 2014. PMID: 24477949
The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centers.
Tylki-Szymańska A, Almássy Z, Christophidou-Anastasiadou V, Avdjieva-Tzavella D, Barisic I, Cerkauskiene R, Cuturilo G, Djiordjevic M, Gucev Z, Hlavata A, Kieć-Wilk B, Magner M, Pecin I, Plaiasu V, Samardzic M, Zafeiriou D, Zaganas I, Lampe C. Tylki-Szymańska A, et al. Among authors: plaiasu v. Orphanet J Rare Dis. 2022 Mar 24;17(1):136. doi: 10.1186/s13023-022-02285-x. Orphanet J Rare Dis. 2022. PMID: 35331284 Free PMC article.
18 results