Browsing by Author Melaragno, Maria Isabel [UNIFESP]

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Issue DateTitleAuthor(s)
1-May-2008Atypical 22q11.2 deletion in a patient with DGS/VCFS spectrumBelangero, Sintia Iole [UNIFESP]; Hacker, April M.; Bellucco, Fernanda T. S. [UNIFESP]; Christofolini, Denise M. [UNIFESP]; Kulikowski, Leslie Domenici [UNIFESP]; Cernach, Mirlene C. S. P. [UNIFESP]; Emanuel, Beverly S.; Melaragno, Maria Isabel [UNIFESP]; Universidade Federal de São Paulo (UNIFESP); Childrens Hosp Philadelphia; Univ Penn
1-Oct-2012Autistic disorder phenotype associated to a complex 15q intrachromosomal rearrangementChristofolini, Denise Maria; Meloni, Vera Ayres [UNIFESP]; Paula Ramos, Marco Antonio de [UNIFESP]; Oliveira, Mariana Moyses [UNIFESP]; Mello, Claudia Berlim de [UNIFESP]; Pellegrino, Renata [UNIFESP]; Takeno, Sylvia Satomi [UNIFESP]; Melaragno, Maria Isabel [UNIFESP]; FMABC; Universidade Federal de São Paulo (UNIFESP)
2017Balanced X autosome translocation suggests association of AMMECR1 disruption with hearing loss short stature bone and heart alterationsMoyses-Oliveira, Mariana [UNIFESP]; Fish, Richard; Giannuzzi, Giuliana; Karaca, Ender; Akdemir, Zeynep; Petit, Florence; Meloni, Vera [UNIFESP]; Soares, Maria [UNIFESP]; Kulikowski, Leslie; Di Battista, Adriana [UNIFESP]; Zamariolli, Malu [UNIFESP]; Liehr, Thomas; Kosyakova, Nadezda; Carvalheira, Gianna [UNIFESP]; Andrieux, Joris; Neerman-Arbez, Marguerite; Lupski, James; Melaragno, Maria Isabel [UNIFESP]; Reymond, Alexandre
1-Jan-2001Clinical and cytogenetic characterisation of a patient with Down syndrome resulting from a 21q22.1 -> qter duplicationNadal, Marga; Vigo, Cesar Guzman; Melaragno, Maria Isabel [UNIFESP]; Andrade, Joyce Anderson Duffles [UNIFESP]; Alonso, Luis Garcia [UNIFESP]; Brunoni, Decio [UNIFESP]; Pritchard, Melanie; Estivill, Xavier; IRO; Univ Nacl Pedro Ruiz Gallo; Universidade Federal de São Paulo (UNIFESP)
1-Jan-2007Clinical checklists in the selection of mentally retarded males for molecular screening of fragile X syndromeChristofolini, Denise Maria [UNIFESP]; Lipay, Monica Vanucci Nunes [UNIFESP]; Ramos, Marco Antonio P. [UNIFESP]; Costa, Silvia S.; Bellucco, Fernanda Teixeira da Silva [UNIFESP]; Belangero, Sintia Iole [UNIFESP]; Kulikowski, Leslie Domenici [UNIFESP]; Brunoni, Decio [UNIFESP]; Melaragno, Maria Isabel [UNIFESP]; Universidade Federal de São Paulo (UNIFESP); Universidade de São Paulo (USP)
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)
31-Oct-2013Complex small supernumerary marker chromosomes - an updateLiehr, Thomas; Cirkovic, Sanja; Lalic, Tanja; Guc-Scekic, Marija; Almeida, Cynthia de; Weimer, Joerg; Iourov, Ivan; Melaragno, Maria Isabel [UNIFESP]; Guilherme, Roberta S. [UNIFESP]; Stefanou, Eunice-Georgia G.; Aktas, Dilek; Kreskowski, Katharina; Klein, Elisabeth; Ziegler, Monika; Kosyakova, Nadezda; Volleth, Marianne; Hamid, Ahmed B.; Friedrich Schiller Univ; Mother & Child Hlth Care Inst Serbia Dr Vukan Cup; Univ Belgrade; Univ Republ UDELAR; UKSH; RAMS; Inst Pediat & Children Surg; Universidade Federal de São Paulo (UNIFESP); Univ Gen Hosp Patras; Hacettepe Univ; Univ Klinikum; Inst Human Genet & Anthropol
1-Jan-2014Congenital Adrenal Hyperplasia, Ovarian Failure and Ehlers-Danlos Syndrome due to a 6p DeletionMoyses-Oliveira, Mariana [UNIFESP]; Mancini, Tatiane Iris [UNIFESP]; Takeno, Sylvia Satomi [UNIFESP]; Rodrigues, Andresa De Santi [UNIFESP]; Bachega, Tania Aparecida Sartori Sanchez [UNIFESP]; Bertola, Debora [UNIFESP]; Melaragno, Maria Isabel [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
1-Nov-2010Cytogenetic and Molecular Evaluation and 20-Year Follow-Up of a Patient With Ring Chromosome 14Guilherme, Roberta Santos [UNIFESP]; Ayres Meloni, Vera de Freitas [UNIFESP]; Sodre, Claudete Palmer [UNIFESP]; Christofolini, Denise Maria [UNIFESP]; Pellegrino, Renata [UNIFESP]; Mello, Claudia Berlim de [UNIFESP]; Conlin, Laura Kathleen; Hutchinson, Anne Lawlor; Spinner, Nancy Bettina; Brunoni, Decio [UNIFESP]; Kulikowski, Leslie Domenici [UNIFESP]; Melaragno, Maria Isabel [UNIFESP]; Universidade Federal de São Paulo (UNIFESP); Childrens Hosp Philadelphia; Universidade de São Paulo (USP)
1-Nov-2010Cytogenetic molecular delineation of a terminal 18q deletion suggesting neo-telomere formationKulikowski, Leslie Domenici [UNIFESP]; Yoshimoto, Maisa; Silva Bellucco, Fernanda Teixeira da [UNIFESP]; Nogueira Belangero, Sintia Iole [UNIFESP]; Christofolini, Denise Maria [UNIFESP]; Xavier Pacanaro, Ade Nubia [UNIFESP]; Bortolai, Adriana; Cardoso Smith, Marilia de Arruda [UNIFESP]; Squire, Jeremy A.; Melaragno, Maria Isabel [UNIFESP]; Universidade de São Paulo (USP); Universidade Federal de São Paulo (UNIFESP); Queens Univ; Hosp Servidor Pub Estadual
1-Jun-1998Cytogenetic study of women with premature ovarian failurePagni, Denise [UNIFESP]; Melaragno, Maria Isabel [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
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-Sep-2014Cytogenomic Delineation and Clinical Follow-up of Two Siblings with an 8.5 Mb 6q24.2-q25.2 Deletion Inherited From a Paternal InsertionMeloni, Vera Ayres [UNIFESP]; Guilherme, Roberta Santos [UNIFESP]; Oliveira, Mariana Moyses [UNIFESP]; Migliavacca, Michele [UNIFESP]; Takeno, Sylvia Satomi [UNIFESP]; Macena Sobreira, Nara Lygia; Faria Soares, Maria de Fatima [UNIFESP]; Mello, Claudia Berlim de [UNIFESP]; Melaragno, Maria Isabel [UNIFESP]; Universidade Federal de São Paulo (UNIFESP); Johns Hopkins Univ
1-Apr-2009Deleção 22q11.2 em pacientes com defeito cardíaco conotruncal e fenótipo da síndrome da deleção 22q11.2Belangero, Sintia Iole [UNIFESP]; Bellucco, Fernanda Teixeira da Silva [UNIFESP]; Kulikowski, Leslie Domenici [UNIFESP]; Christofolini, Denise Maria [UNIFESP]; Cernach, Mirlene Cecilia Soares Pinho [UNIFESP]; Melaragno, Maria Isabel [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
2017Deletion 21pterq22.11: Report of a Patient with Dysmorphic Features, Hypertonia, and Cafe-au-Lait Macules and Review of the LiteratureMalinverni, Andrea C. M. [UNIFESP]; Yamashiro Coelho, Erika M. [UNIFESP]; Chen, Kelin; Colovati, Mileny E. [UNIFESP]; Soares Pinho Cernach, Mirlene C. [UNIFESP]; Bragagnolo, Silvia [UNIFESP]; Melaragno, Maria Isabel [UNIFESP]
1-Sep-1996Deletion 9p and duplication 17p due to a translocation t(9;17)(p23;p13)patMelaragno, Maria Isabel [UNIFESP]; Gonzalez, Christina Hajaj [UNIFESP]; Brunoni, Decio [UNIFESP]; Kim, Chong Ae [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
1-Jan-2012Different Conformation of Two Supernumerary 18p Isochromosomes, One with a Concomitant Partial 18q TrisomyDutra, Ana Rosa Noronha [UNIFESP]; Mancini, Tatiane Iris [UNIFESP]; Takeno, Sylvia Satomi [UNIFESP]; Oliveira, Marcio Moyses de [UNIFESP]; Kim, Chong A.; Perez, Ana Beatriz Alvarez [UNIFESP]; Kulikowski, Leslie Domenici [UNIFESP]; Melaragno, Maria Isabel [UNIFESP]; Universidade Federal de São Paulo (UNIFESP); Universidade de São Paulo (USP)
1-Dec-2012DRD1 rs4532 polymorphism: A potential pharmacogenomic marker for treatment response to antipsychotic drugsOta, Vanessa Kiyomi [UNIFESP]; Spindola, Leticia Nery [UNIFESP]; Gadelha, Ary [UNIFESP]; Santos Filho, Airton Ferreira dos [UNIFESP]; Santoro, Marcos Leite [UNIFESP]; Christofolini, Denise Maria; Bellucco, Fernanda Teixeira [UNIFESP]; Ribeiro-dos-Santos, Andrea Kely; Santos, Sidney; Mari, Jair de Jesus [UNIFESP]; Melaragno, Maria Isabel [UNIFESP]; Bressan, Rodrigo Affonseca [UNIFESP]; Cardoso Smith, Marilia de Arruda [UNIFESP]; Belangero, Sintia Iole [UNIFESP]; Universidade Federal de São Paulo (UNIFESP); Fac Med ABC FMABC; Universidade Federal do Pará (UFPA)
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)