Search Results - "Catelani, Ana Lúcia"

  • Showing 1 - 8 results of 8
Refine Results
  1. 1
    MSX2 copy number increase and craniosynostosis: copy number variation detected by array comparative genomic hybridization

    MSX2 copy number increase and craniosynostosis: copy number variation detected by array comparative genomic hybridization by de Oliveira Pelegrino, Karla, Sugayama, Sofia, Lezirovitz, Karina, Catelani, Ana Lúcia, Kok, Fernando, de Lourdes Chauffaille, Maria

    Published in Clinics (São Paulo, Brazil) (01-08-2012)
    Get full text
    Journal Article
    Save to List
    Saved in:
  2. 2
    7q36 deletion and 9p22 duplication: effects of a double imbalance

    7q36 deletion and 9p22 duplication: effects of a double imbalance by Pelegrino, Karla de Oliveira, Sugayama, Sofia, Catelani, Ana Lúcia, Lezirovitz, Karina, Kok, Fernando, Chauffaille, Maria de Lourdes

    Published in Molecular cytogenetics (15-01-2013)
    “…The etiology of mental retardation/developmental delay (MRDD) remains a challenge to geneticists and clinicians and can be correlated to environmental and…”
    Get full text
    Journal Article
    Save to List
    Saved in:
  3. 3
    Array CGH detection of a cryptic deletion in a complex chromosome rearrangement

    Array CGH detection of a cryptic deletion in a complex chromosome rearrangement by ROSENBERG, Carla, KNIJNENBURG, Jeroen, DE LOURDES CHAUFFAILLE, Maria, BRUNONI, Decio, CATELANI, Ana Lucia, SLOOS, Willem, SZUHAI, Karoly, TANKE, Hans J

    Published in Human genetics (01-04-2005)
    “…Balanced complex chromosome rearrangements (CCR) are extremely rare in humans. They are usually ascertained either by abnormal phenotype or reproductive…”
    Get full text
    Journal Article
    Save to List
    Saved in:
  4. 4
    MSX2 copy number increase and craniosynostosis: copy number variation detected by array comparative genomic hybridization

    MSX2 copy number increase and craniosynostosis: copy number variation detected by array comparative genomic hybridization by Pelegrino, Karla de Oliveira, Sugayama, Sofia, Lezirovitz, Karina, Catelani, Ana Lúcia, Kok, Fernando, Chauffaille, Maria de Lourdes

    Published in Clinics (São Paulo, Brazil) (01-08-2012)
    Get full text
    Journal Article
    Save to List
    Saved in:
  5. 5
    Cytogenetic analysis of material from spontaneous abortion

    Cytogenetic analysis of material from spontaneous abortion by Rolnik, Daniel Lorber, Carvalho, Mário Henrique Burlacchini de, Catelani, Ana Lúcia Pereira Monteiro, Pinto, Ana Paula Almeida Rocha, Lira, Juliana Branco Gonçalves, Kusagari, Neusa Kiyomi, Belline, Paula, Chauffaille, Maria de Lourdes

    “…To describe chromosomal abnormalities in spontaneous abortion material. A retrospective compilation of karyotype analysis of slides stained with Band G was…”
    Get more information
    Magazine Article
    Save to List
    Saved in:
  6. 6
    7q36 deletion and 9p22 duplication: effects of a double imbalance

    7q36 deletion and 9p22 duplication: effects of a double imbalance by Pelegrino, Karla de Oliveira, Sugayama, Sofia, Catelani, Ana Lúcia, Lezirovitz, Karina, Kok, Fernando, Chauffaille, Maria de Lourdes

    Published in Molecular cytogenetics (15-01-2013)
    Get full text
    Report
    Save to List
    Saved in:
  7. 7
    Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases

    Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases by Quaio, Caio Robledo D'Angioli Costa, Moreira, Caroline Monaco, Novo‐Filho, Gil Monteiro, Sacramento‐Bobotis, Patricia Rossi, Groenner Penna, Michele, Perazzio, Sandro Felix, Dutra, Aurelio Pimenta, Silva, Rafael Alves, Santos, Monize Nakamoto Provisor, Arruda, Vanessa Yurie Nozaki, Freitas, Vanessa Galdeno, Pereira, Vinícius Ceola, Pintao, Maria Carolina, Fornari, Alexandre Ricardo dos Santos, Buzolin, Ana Lígia, Oku, Andre Yuji, Burger, Matheus, Ramalho, Rodrigo Fernandes, Marco Antonio, David Santos, Ferreira, Elisa Napolitano, Pereira, Otavio Jose Eulalio, Cantagalli, Vanessa Dionisio, Trindade, Ana Carolina Gomes, Sousa, Rafaela Rogerio Floriano, Reys Furuzawa, Cintia, Verzini, Fernanda, Matalhana, Shirley Dezan, Romano, Naiade, Paixão, Daniele, Olivati, Caroline, Spolador, Gustavo Marquezani, Maciel, Gustavo Arantes Rosa, Rocha, Viviane Zorzanelli, Miguelez, Javier, Carvalho, Mario Henrique Burlacchini, Souza, Alexandre Wagner Silva, Andrade, Luis Eduardo Coelho, Chauffaille, Maria de Lourdes, Perazzio, Aline dos Santos Borgo, Catelani, Ana Lucia Pereira Monteiro, Mitne‐Neto, Miguel, Kim, Chong Ae, Baratela, Wagner Antonio da Rosa

    “…Rare diseases comprise a diverse group of conditions, most of which involve genetic causes. We describe the variable spectrum of findings and clinical impacts…”
    Get full text
    Journal Article
    Save to List
    Saved in:
  8. 8
    Análise citogenética em material de abortamento espontâneo

    Análise citogenética em material de abortamento espontâneo by Rolnik, Daniel Lorber, Carvalho, Mário Henrique Burlacchini de, Catelani, Ana Lúcia Pereira Monteiro, Pinto, Ana Paula Almeida Rocha, Lira, Juliana Branco Gonçalves, Kusagari, Neusa Kiyomi, Belline, Paula, Chauffaille, Maria de Lourdes

    Get full text
    Magazine Article
    Save to List
    Saved in:

Search Tools: