Browsing by Author Brunoni, Decio [UNIFESP]

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Issue DateTitleAuthor(s)
1-Jun-2003Absence of 12q21.2rv92 deletions and subtelomeric rearrangements in cardiofaciocutaneous (CFC) syndrome patientsKavamura, Maria Ines [UNIFESP]; Zollino, M.; Lecce, R.; Murdolo, M.; Brunoni, Decio [UNIFESP]; Alchorne, Maurício Mota de Avelar [UNIFESP]; Opitz, J. M.; Neri, G.; Univ Utah; Universidade Federal de São Paulo (UNIFESP); Univ Cattolica Sacro Cuore
1999Anomalias congenitas: estudos genetico-clinicos e epidemiologicosBrunoni, Decio [UNIFESP]
1-Dec-2000Anomalias oculares em pacientes portadores de deficiência auditiva genéticaChen, Jane [UNIFESP]; Sallum, Juliana Maria Ferraz [UNIFESP]; Longhitano, Silvia Bragagnolo [UNIFESP]; Brunoni, Decio [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
1-Oct-1997Branchio-oculo-facial syndrome.Lima, F. T.; Perez, Ana Beatriz Alvarez [UNIFESP]; Ramos, Marco Antonio Paula de [UNIFESP]; Brunoni, Decio [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
1-Nov-1999CACP, encoding a secreted proteoglycan, is mutated in camptodactyly-arthropathy-coxa vara-pericarditis syndromeMarcelino, Jose; Carpten, John D.; Suwairi, Wafaa M.; Gutierrez, Orlando M.; Schwartz, Stuart; Robbins, Christiane; Sood, Raman; Makalowska, Izabela|Baxevanis, Andy; Johnstone, Brian; Laxer, Ronald M.; Zemel, Lawrence; Kim, Chong Ae; Herd, J. Kenneth; Ihle, Johannes; Williams, Cal; Johnson, Mark; Raman, Vidya; Alonso, Luis Garcia [UNIFESP]; Brunoni, Decio [UNIFESP]; Gerstein, Amy; Papadopoulos, Nickolas; Bahabri, Sultan A.; Trent, Jeffrey M.; Warman, Matthew L.; Case Western Reserve Univ; Univ Hosp Cleveland; Natl Human Genome Res Inst; King Faisal Specialist Hosp & Res Ctr; Hosp Sick Children; Univ Toronto; Newington Childrens Hosp; Universidade de São Paulo (USP); E Tennessee State Univ; Univ Tubingen; Washington Univ; St Louis Childrens Hosp; Universidade Federal de São Paulo (UNIFESP); Columbia Univ
15-Sep-2002CFC index for the diagnosis of cardiofaciocutaneous syndromeKavamura, Maria Ines [UNIFESP]; Peres, Clovis de Araujo [UNIFESP]; Alchorne, Maurício Mota de Avelar [UNIFESP]; Brunoni, Decio [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
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)
1-Jun-1998Clinical, genetical, radiological, and anatomopathological survey of 17 patients with lethal osteochondrodysplasiasGalera, Marcial Francis [UNIFESP]; Patricio, Francy Reis da S [UNIFESP]; Cernach, Mirlene Cecília S Pinho [UNIFESP]; Lederman, Henrique Manoel [UNIFESP]; Brunoni, Decio [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
1-Jul-2008Complex toe syndactyly with characteristic facial phenotype: A new syndrome?Macena Sobreira, Nara Lygia [UNIFESP]; Cernach, Mirlene Cecilia S. P. [UNIFESP]; Brunoni, Decio [UNIFESP]; Alvarez Perez, Ana Beatriz [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)
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)
1999Defeitos de fechamento do tubo neural: frequência, fatores de risco e morbimortalidade.Brunoni, Decio [UNIFESP]; Lima, Fernanda Teresa de [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)
10-Apr-2009Duplications Involving a Conserved Regulatory Element Downstream of BMP2 Are Associated with Brachydactyly Type A2Dathe, Katarina; Kjaer, Klaus W.; Brehm, Anja; Meinecke, Peter; Nuernberg, Peter; Corrêa Neto, Jordão [UNIFESP]; Brunoni, Decio [UNIFESP]; Tommerup, Nils; Ott, Claus E.; Klopocki, Eva; Seemann, Petra; Mundlos, Stefan; Charite Univ Med Berlin; Univ Copenhagen; Max Planck Inst Mol Genet; Free Univ Berlin; Altonaer Kinderkrankenhaus; Univ Cologne; Universidade Federal de São Paulo (UNIFESP); Berlin Brandenburg Ctr Regenerat Therapies BCRT
2003Estudo citogenético e molecular da síndrome cardiofaciocutâneaBrunoni, Decio [UNIFESP]; Kavamura, Maria Ines [UNIFESP]
2004Estudo clínico e molecular de pacientes com síndrome de Rett.Brunoni, Decio [UNIFESP]; Lima, Fernanda Teresa de [UNIFESP]
2000Estudo genético-clinico e citogenético-molecular de pacientes portadores da sequencia da lisencefalia isoladaBrunoni, Decio [UNIFESP]; Galera, Marcial Francis [UNIFESP]
1994Estudo genético-clinico, radiológico e anatomopatologico de osteocondrodisplasias letaisBrunoni, Decio [UNIFESP]; Galera, Marcial Francis [UNIFESP]