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Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.
Zhang LX, Lemire G, Gonzaga-Jauregui C, Molidperee S, Galaz-Montoya C, Liu DS, Verloes A, Shillington AG, Izumi K, Ritter AL, Keena B, Zackai E, Li D, Bhoj E, Tarpinian JM, Bedoukian E, Kukolich MK, Innes AM, Ediae GU, Sawyer SL, Nair KM, Soumya PC, Subbaraman KR, Probst FJ, Bassetti JA, Sutton RV, Gibbs RA, Brown C, Boone PM, Holm IA, Tartaglia M, Ferrero GB, Niceta M, Dentici ML, Radio FC, Keren B, Wells CF, Coubes C, Laquerrière A, Aziza J, Dubucs C, Nampoothiri S, Mowat D, Patel MS, Bracho A, Cammarata-Scalisi F, Gezdirici A, Fernandez-Jaen A, Hauser N, Zarate YA, Bosanko KA, Dieterich K, Carey JC, Chong JX, Nickerson DA, Bamshad MJ, Lee BH, Yang XJ, Lupski JR, Campeau PM. Zhang LX, et al. Among authors: bracho a. Genet Med. 2020 Aug;22(8):1338-1347. doi: 10.1038/s41436-020-0811-8. Epub 2020 May 19. Genet Med. 2020. PMID: 32424177 Free PMC article. Review.
TSC2/PKD1 contiguous gene síndrome.
Cammarata-Scalisi F, Vidales Moreno C, Zara-Chirinos C, Bracho A, Pérez D. Cammarata-Scalisi F, et al. Among authors: bracho a. Nefrologia. 2017 Nov-Dec;37(6):663-665. doi: 10.1016/j.nefro.2017.03.002. Nefrologia. 2017. PMID: 29122219 Free article. English, Spanish. No abstract available.
A Severe Case of Spondylometaphyseal Dysplasia Algerian Type with Two Mutations in COL2A1.
Cammarata-Scalisi F, Matysiak U, Willoughby CE, Ruzaike G, Cárdenas Tadich A, Araya Castillo M, Zara-Chirinos C, Bracho A, Avendaño A, Jilani H, Callea M. Cammarata-Scalisi F, et al. Among authors: bracho a. J Pediatr Genet. 2021 Jul 26;12(4):339-341. doi: 10.1055/s-0041-1732474. eCollection 2023 Dec. J Pediatr Genet. 2021. PMID: 38162154 Free PMC article.
[Double mutant alleles in the EXT1 gene not previously reported in a teenager with hereditary multiple exostoses].
Cammarata-Scalisi F, Cozar M, Grinberg D, Balcells S, Asteggiano CG, Martínez-Domenech G, Bracho A, Sánchez Y, Stock F, Delgado-Luengo W, Zara-Chirinos C, Chacín JA. Cammarata-Scalisi F, et al. Among authors: bracho a. Arch Argent Pediatr. 2015 Apr;113(2):e109-12. doi: 10.5546/aap.2015.e109. Arch Argent Pediatr. 2015. PMID: 25727835 Free article. Spanish.
Latin American Trans-ancestry INitiative for OCD genomics (LATINO): Study Protocol.
Crowley JJ, Cappi C, Ochoa-Panaifo ME, Frederick RM, Kook M, Wiese AD, Rancourt D, Atkinson EG, Giusti-Rodriguez P, Anderberg JL; Latin American Trans-ancestry INitiative for OCD genomics (LATINO), Brazilian Obsessive-Compulsive Spectrum Disorder Working Group (GTTOC); Abramowitz JS, Adorno VR, Aguirre C, Alves GS, Alves GS, Ancalade N, Espinosa AAA, Arnold PD, Ayton DM, Barbosa IG, Castano LMB, Barrera CN, Prieto MB, Berardo MC, Berrones D, Best JR, Bigdeli TB, Burton CL, Callahan JL, Carneiro MCB, Cepeda SL, Chazelle E, Chire JM, Munoz MC, Quiroz PC, Cobite J, Comer JS, Costa DL, Crosbie J, Cruz VO, Dager G, Daza LF, de la Rosa-Gómez A, Del Río D, Delage FZ, Dreher CB, Fay L, Fazio T, Ferrão YA, Ferreira GM, Figueroa EG, Fontenelle LF, Forero DA, Fragoso DT, Gadad BS, Garrison SR, González A, Gonzalez LD, González MA, Gonzalez-Barrios P, Goodman W, Guintivano J, Guttfreund DG, Guzick AG, Halvorsen MW, Hovey JD, Janssen-Aguilar R, Jensen M, Reynolds AZJ, Lujambio JAJ, Khalfe N, Knutsen MA, Lack C, Lanzagorta N, Lima MO, Longhurst MO, Martinez DAL, Luna ES, Marques AH, Martinez M, de Los Angeles Matos M, Maye CE, McGuire JF, Menezes G, Minaya C, Miño T, Mithani SM, de Oca CM, Mora… See abstract for full author list ➔ Crowley JJ, et al. Among authors: bracho aan. medRxiv [Preprint]. 2023 Feb 26:2023.02.23.23286373. doi: 10.1101/2023.02.23.23286373. medRxiv. 2023. PMID: 37131804 Free PMC article. Updated. Preprint.
33 results