Browsing by Author Kulikowski, Leslie Domenici

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Showing results 1 to 12 of 12
Issue DateTitleAuthor(s)
1-Jul-2014Clinical, cytogenetic, and molecular characterization of six patients with ring chromosomes 22, including one with concomitant 22q11.2 deletionGuilherme, Roberta Santos [UNIFESP]; Soares, Karina Cunha; Simioni, Milena; Vieira, Tarsis Paiva; Gil-da-Silva-Lopes, Vera Lucia; Kim, Chong Ae; Brunoni, Decio [UNIFESP]; Spinner, Nancy Bettina; Conlin, Laura Kathleen; Christofolini, Denise Maria; Kulikowski, Leslie Domenici; Steiner, Carlos Eduardo; Melaragno, Maria Isabel [UNIFESP]; Universidade Federal de São Paulo (UNIFESP); Universidade Estadual de Campinas (UNICAMP); Univ Penn; Universidade de São Paulo (USP)
1-Feb-2012Cytogenetic instability of dental pulp stem cell linesDuailibi, Monica Talarico [UNIFESP]; Kulikowski, Leslie Domenici; Duailibi, Silvio Eduardo [UNIFESP]; Nunes Lipay, Monica Vannucci [UNIFESP]; Melaragno, Maria Isabel; Ferreira, Lydia Masako [UNIFESP]; Vacanti, Joseph Phillip; Yelick, Pamela Crotty; Universidade de São Paulo (USP); Universidade Federal de São Paulo (UNIFESP); INCT Biofabris; Massachusetts Gen Hosp; Harvard Univ; Dept Surg; Tufts Univ
2017Cytogenomic assessment of the diagnosis of 93 patients with developmental delay and multiple congenital abnormalities: The Brazilian experienceZanardo, Evelin Aline; Dutra, Roberta Lelis; Piazzon, Flavia Balbo; Dias, Alexandre Torchio; Novo-Filho, Gil Monteiro; Nascimento, Amom Mendes; Montenegro, Marilia Moreira; Damasceno, Jullian Gabriel; Rosa Madia, Fabricia Andreia; Moura Machado da Costa, Thais Virginia; Melaragno, Maria Isabel [UNIFESP]; Kim, Chong Ae; Kulikowski, Leslie Domenici
15-Mar-2012Cytogenomic characterization of an unexpected 17.6 Mb 9p deletion associated to a 14.8 Mb 20p duplication in a dysmorphic patient with multiple congenital anomalies presenting a normal G-banding karyotypeMeloni, Vera de Freitas Ayres [UNIFESP]; Piazzon, Flavia Balbo; Soares, Maria de Fátima de Faria [UNIFESP]; Takeno, Sylvia Satomi [UNIFESP]; Christofolini, Denise Maria [UNIFESP]; Kulikowski, Leslie Domenici; Brunoni, Decio [UNIFESP]; Melaragno, Maria Isabel [UNIFESP]; Universidade Federal de São Paulo (UNIFESP); ABC Sch Med; Universidade de São Paulo (USP)
1-Aug-2007Deletion 22q11.2: Report of a complex meiotic mechanism of originBelangero, Sintia Iole [UNIFESP]; Hacker, April M.; Bellucco, Fernanda T. S.; Kulikowski, Leslie Domenici; Christofolini, Denise Maria; Cernach, Mirlene C.; Melaragno, Maria Isabel; Emanuel, Beverly S.; Universidade Federal de São Paulo (UNIFESP); Univ Penn
20-Dec-2014Duplication 9p and their implication to phenotypeGuilherme, Roberta Santos [UNIFESP]; Meloni, Vera Ayres [UNIFESP]; Perez, Ana Beatriz Alvarez [UNIFESP]; Pilla, Ana Luiza [UNIFESP]; Ramos, Marco Antonio Paula de [UNIFESP]; Dantas, Anelisa Gollo [UNIFESP]; Takero, Sylvia Satomi [UNIFESP]; Kulikowski, Leslie Domenici; Melaragno, Maria Isabel [UNIFESP]; Universidade Federal de São Paulo (UNIFESP); Universidade de São Paulo (USP)
2018Inactivation of AMMECR1 is associated with growth, bone, and heart alterationsMoyses-Oliveira, Mariana [UNIFESP]; Giannuzzi, Giuliana; Fish, Richard J.; Rosenfeld, Jill A.; Petit, Florence; Soares, Maria de Fatima [UNIFESP]; Kulikowski, Leslie Domenici; Di-Battista, Adriana [UNIFESP]; Zamariolli, Malu [UNIFESP]; Xia, Fan; Liehr, Thomas; Kosyakova, Nadezda; Carvalheira, Gianna [UNIFESP]; Parker, Michael; Seaby, Eleanor G.; Ennis, Sarah; Gilbert, Rodney D.; Hagelstrom, R. Tanner; Cremona, Maria L.; Li, Wenhui L.; Malhotra, Alka; Chandrasekhar, Anjana; Perry, Denise L.; Taft, Ryan J.; McCarrier, Julie; Basel, Donald G.; Andrieux, Joris; Stumpp, Taiza; Antunes, Fernanda [UNIFESP]; Pereira, Gustavo Jose [UNIFESP]; Neerman-Arbez, Marguerite; Meloni, Vera Ayres [UNIFESP]; Drummond-Borg, Margaret; Melaragno, Maria Isabel [UNIFESP]; Reymond, Alexandre
2016Position effect modifying gene expression in a patient with ring chromosome 14Guilherme, Roberta Santos [UNIFESP]; Moyses-Oliveira, Mariana [UNIFESP]; Dantas, Anelisa Gollo [UNIFESP]; Meloni, Vera Ayres [UNIFESP]; Colovati, Mileny Esbravatti [UNIFESP]; Kulikowski, Leslie Domenici; Melaragno, Maria Isabel [UNIFESP]
1-Mar-2010A Rare Case of Trisomy 15pter-q21.2 Due to a de Novo Marker ChromosomePacanaro, Ade Nubia Xavier [UNIFESP]; Christofolini, Denise Maria; Kulikowski, Leslie Domenici; Nogueira Belangero, Sintia Iole; Silva Bellucco, Fernanda Teixeira da; Varela, Monica C.; Koiffmann, Celia P.; Yoshimoto, Maisa; Squire, Jeremy A.; Schiavon, Adriana V.; Heck, Benjamin; Melaragno, Maria Isabel [UNIFESP]; Universidade Federal de São Paulo (UNIFESP); Universidade de São Paulo (USP); Univ Toronto; Hosp Sao Camilo Pompeia
1-Feb-2013Ring chromosome 10: report on two patients and review of the literatureGuilherme, Roberta Santos [UNIFESP]; Kim, Chong Ae; Alonso, Luis Garcia [UNIFESP]; Honjo, Rachel S.; Meloni, Vera Ayres [UNIFESP]; Christofolini, Denise Maria; Kulikowski, Leslie Domenici; Melaragno, Maria Isabel [UNIFESP]; Universidade Federal de São Paulo (UNIFESP); Universidade de São Paulo (USP); ABC Sch Med
1-Oct-2012Role of SNAP29, LZTR1 and P2RXL1 genes on immune regulation in a patient with atypical 0.5 Mb deletion in 22q11.2 regionQueiroz Soares, Diogo Cordeiro de; Dutra, Roberta Lelis; D'angioli Costa Quaio, Caio Robledo; Melaragno, Maria Isabel [UNIFESP]; Kulikowski, Leslie Domenici; Torres, Leuridan Cavalcante; Kim, Chong Ae; Inst Med Integral Prof Fernando Figueira IMIP; Universidade de São Paulo (USP); Universidade Federal de São Paulo (UNIFESP)
22-Aug-2014Trisomy 1q32 and monosomy 11q25 associated with congenital heart defect: cytogenomic delineation and patient fourteen years follow-upMeloni, Vera Ayres [UNIFESP]; Takeno, Sylvia Satomi [UNIFESP]; Pilla, Ana Luiza [UNIFESP]; Mello, Claudia Berlim de [UNIFESP]; Melaragno, Maria Isabel; Kulikowski, Leslie Domenici; Universidade de São Paulo (USP); Universidade Federal de São Paulo (UNIFESP); Fac Med ABC