Now showing items 1-20 of 67

    • Atypical 22q11.2 deletion in a patient with DGS/VCFS spectrum 

      Belangero, 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] (Elsevier B.V., 2008-05-01)
      Deletions in region 22q11.2 usually occur between two low copy repeat regions (LCRs), which are preferred chromosome sites for rearrangements. Most of the deletions encompass the same similar to 3 or similar to 1.5 Mb ...
    • Autistic disorder phenotype associated to a complex 15q intrachromosomal rearrangement 

      Christofolini, 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] (Wiley-Blackwell, 2012-10-01)
      The proximal regions of acrocentric chromosomes, particularly 15q11.2, are frequently involved in structural rearrangement. However, interstitial duplications involving one of the chromosome 15 homologues are less frequent, ...
    • Balanced X autosome translocation suggests association of AMMECR1 disruption with hearing loss short stature bone and heart alterations 

      Moyses-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 (Biomed Central Ltd, 2017)
    • Clinical and cytogenetic characterisation of a patient with Down syndrome resulting from a 21q22.1 -> qter duplication 

      Nadal, Marga; Vigo, Cesar Guzman; Melaragno, Maria Isabel [UNIFESP]; Andrade, Joyce Anderson Duffles [UNIFESP]; Alonso, Luis Garcia [UNIFESP]; Brunoni, Decio [UNIFESP]; Pritchard, Melanie; Estivill, Xavier (British Med Journal Publ Group, 2001-01-01)
    • Clinical checklists in the selection of mentally retarded males for molecular screening of fragile X syndrome 

      Christofolini, 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] (Sociedade Brasileira de Genética, 2007-01-01)
      Fragile X syndrome is the most frequent cause of inherited mental retardation. The phenotype in this syndrome is quite variable and less conspicuous in younger patients, making clinical diagnosis difficult and thus making ...
    • Clinical, cytogenetic, and molecular characterization of six patients with ring chromosomes 22, including one with concomitant 22q11.2 deletion 

      Guilherme, 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] (Wiley-Blackwell, 2014-07-01)
      We report here on six patients with a ring chromosome 22 and the range of cytogenetic and phenotypic features presented by them. Genomic analysis was carried out using classical and molecular cytogenetics, MLPA (Multiplex ...
    • Complex small supernumerary marker chromosomes - an update 

      Liehr, 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. (Biomed Central Ltd, 2013-10-31)
      Background: Complex small supernumerary marker chromosomes (sSMC) constitute one of the smallest subgroups of sSMC in general. Complex sSMC consist of chromosomal material derived from more than one chromosome; the best ...
    • Congenital Adrenal Hyperplasia, Ovarian Failure and Ehlers-Danlos Syndrome due to a 6p Deletion 

      Moyses-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] (Karger, 2014-01-01)
      Cryptic deletions in balanced de novo translocations represent a frequent cause of abnormal phenotypes, including Mendelian diseases. in this study, we describe a patient with multiple congenital abnormalities, such as ...
    • Cytogenetic and Molecular Evaluation and 20-Year Follow-Up of a Patient With Ring Chromosome 14 

      Guilherme, 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] (Wiley-Blackwell, 2010-11-01)
      We present a 20-year follow-up on a patient with a ring chromosome 14. the ring chromosome was studied by fluorescence in-situ hybridization (FISH), multiplex-ligation probe amplification (MLPA), and genome wide SNP array, ...
    • Cytogenetic molecular delineation of a terminal 18q deletion suggesting neo-telomere formation 

      Kulikowski, 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] (Elsevier B.V., 2010-11-01)
      Deletion of the long arm of chromosome 18 is one of the most common segmental aneusomies compatible with life and usually involves a deletion of the terminal chromosomal region. However, the mechanisms implicated in the ...
    • Cytogenetic study of women with premature ovarian failure 

      Pagni, Denise [UNIFESP]; Melaragno, Maria Isabel [UNIFESP] (Sociedade Brasileira de Genética, 1998-06-01)
      Etiology of premature ovarian failure (POF) is unclear in most patients. Since some cases are related to X-chromosome abnormalities, cytogenetical studies were conducted in patients with POF. Lymphocyte cultures from eleven ...
    • Cytogenomic assessment of the diagnosis of 93 patients with developmental delay and multiple congenital abnormalities: The Brazilian experience 

      Zanardo, 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 (Hospital Clinicas, Univ Sao Paulo, 2017)
      OBJECTIVE: The human genome contains several types of variations, such as copy number variations, that can generate specific clinical abnormalities. Different techniques are used to detect these changes, and obtaining an ...
    • Cytogenomic 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 karyotype 

      Meloni, 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] (Elsevier B.V., 2012-03-15)
      We describe a female patient with developmental delay, dysmorphic features and multiple congenital anomalies who presented a normal G-banded karyotype at the 550-band resolution. Array and multiplex-ligation probe amplification ...
    • Cytogenomic Delineation and Clinical Follow-up of Two Siblings with an 8.5 Mb 6q24.2-q25.2 Deletion Inherited From a Paternal Insertion 

      Meloni, 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] (Wiley-Blackwell, 2014-09-01)
      The chromosomal segment 6q24-q25 comprises a contiguous gene microdeletion syndrome characterized by intrauterine growth retardation, growth delay, intellectual disability, cardiac anomalies, and a dysmorphic facial ...
    • Deleção 22q11.2 em pacientes com defeito cardíaco conotruncal e fenótipo da síndrome da deleção 22q11.2 

      Belangero, 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] (Sociedade Brasileira de Cardiologia - SBC, 2009-04-01)
      BACKGROUND: The 22q11.2 deletion syndrome is the most frequent human microdeletion syndrome. The phenotype is highly variable, being characterized by conotruncal heart defect, facial dysmorphisms, velopharyngeal insufficiency, ...
    • Deletion 21pterq22.11: Report of a Patient with Dysmorphic Features, Hypertonia, and Cafe-au-Lait Macules and Review of the Literature 

      Malinverni, 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] (Karger, 2017)
      Partial monosomy 21 results in a great variability of clinical features that may be associated with the size and location of the deletion. In this study, we report a 22-month-old girl who showed a 45, XX, add(12)(p13) ...
    • Deletion 9p and duplication 17p due to a translocation t(9;17)(p23;p13)pat 

      Melaragno, Maria Isabel [UNIFESP]; Gonzalez, Christina Hajaj [UNIFESP]; Brunoni, Decio [UNIFESP]; Kim, Chong Ae [UNIFESP] (Soc Brasil Genetica, 1996-09-01)
      A patient with partial monosomy 9p and partial trisomy 17p derived from a paternal translocation t(9;17)(p23;p13) is described. His phenotype is close to that found in 9p monosomy syndrome.
    • Different Conformation of Two Supernumerary 18p Isochromosomes, One with a Concomitant Partial 18q Trisomy 

      Dutra, 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] (Karger, 2012-01-01)
      The presence of a supernumerary 18p isochromosome is a rare chromosomal abnormality that results in 18p tetrasomy. This is a report on the clinical, cytogenetic and molecular findings of 2 non-related patients with a ...
    • DRD1 rs4532 polymorphism: A potential pharmacogenomic marker for treatment response to antipsychotic drugs 

      Ota, 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] (Elsevier B.V., 2012-12-01)
      We investigated the association of dopamine receptor D1 gene (DRD1) rs4532 polymorphism with antipsychotic treatment response in schizophrenia. We have analyzed 124 patients with schizophrenia, consisting of 59 treatment ...
    • Duplication 9p and their implication to phenotype 

      Guilherme, 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] (Biomed Central Ltd, 2014-12-20)
      Background: Trisomy 9p is one of the most common partial trisomies found in newborns. We report the clinical features and cytogenomic findings in five patients with different chromosome rearrangements resulting in complete ...