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Page 1
Genetic investigation of patients with tall stature.
Vasco de Albuquerque Albuquerque E, Ferreira de Assis Funari M, Pereira de Souza Quedas E, Sayuri Honjo Kawahira R, Soares Jallad R, Homma TK, Martin RM, Brito VN, Malaquias AC, Lerario AM, Rosenberg C, Victorino Krepischi AC, Ae Kim C, Arnhold IJP, Jorge AAL. Vasco de Albuquerque Albuquerque E, et al. Among authors: ae kim c. Eur J Endocrinol. 2020 Feb;182(2):139-147. doi: 10.1530/EJE-19-0785. Eur J Endocrinol. 2020. PMID: 31751304
Morquio-like dysostosis multiplex presenting with neuronopathic features is a distinct GLB1-related phenotype.
Stockler-Ipsiroglu S, Yazdanpanah N, Yazdanpanah M, Moisa Popurs M, Yuskiv N, Schmitz Ferreira Santos ML, Ae Kim C, Fischinger Moura de Souza C, Marques Lourenço C, Steiner CE, Federhen A, Giugliani L, Bastos Pereira DM, Durán-Carabali LE, Giugliani R. Stockler-Ipsiroglu S, et al. Among authors: ae kim c. JIMD Rep. 2021 Mar 8;60(1):23-31. doi: 10.1002/jmd2.12211. eCollection 2021 Jul. JIMD Rep. 2021. PMID: 34258138 Free PMC article.
Variants in Candidate Genes for Phenotype Heterogeneity in Patients with the 22q11.2 Deletion Syndrome.
Nunes N, Carvalho Nunes B, Zamariolli M, Cordeiro de Queiroz Soares D, Caires Dos Santos L, Gollo Dantas A, Ayres Meloni V, Iole Belangero S, Gil-Da-Silva-Lopes VL, Ae Kim C, Melaragno MI. Nunes N, et al. Among authors: ae kim c. Genet Res (Camb). 2024 Mar 30;2024:5549592. doi: 10.1155/2024/5549592. eCollection 2024. Genet Res (Camb). 2024. PMID: 38586596 Free PMC article.
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.
Travaglini L, Brancati F, Silhavy J, Iannicelli M, Nickerson E, Elkhartoufi N, Scott E, Spencer E, Gabriel S, Thomas S, Ben-Zeev B, Bertini E, Boltshauser E, Chaouch M, Cilio MR, de Jong MM, Kayserili H, Ogur G, Poretti A, Signorini S, Uziel G, Zaki MS; International JSRD Study Group; Johnson C, Attié-Bitach T, Gleeson JG, Valente EM. Travaglini L, et al. Eur J Hum Genet. 2013 Oct;21(10):1074-8. doi: 10.1038/ejhg.2012.305. Epub 2013 Feb 6. Eur J Hum Genet. 2013. PMID: 23386033 Free PMC article.
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.
Iannicelli M, Brancati F, Mougou-Zerelli S, Mazzotta A, Thomas S, Elkhartoufi N, Travaglini L, Gomes C, Ardissino GL, Bertini E, Boltshauser E, Castorina P, D'Arrigo S, Fischetto R, Leroy B, Loget P, Bonnière M, Starck L, Tantau J, Gentilin B, Majore S, Swistun D, Flori E, Lalatta F, Pantaleoni C, Penzien J, Grammatico P; International JSRD Study Group; Dallapiccola B, Gleeson JG, Attie-Bitach T, Valente EM. Iannicelli M, et al. Hum Mutat. 2010 May;31(5):E1319-31. doi: 10.1002/humu.21239. Hum Mutat. 2010. PMID: 20232449 Free PMC article.