Recent Submissions

  • Prenatal and lactation nicotine exposure affects Sertoli cell and gonadotropin levels in rats 

    Paccola, C. C. [UNIFESP]; Miraglia, S. M. [UNIFESP] (Bioscientifica Ltd, 2016)
    Nicotine is largely consumed in the world as a component of cigarettes. It can cross the placenta and reach the milk of smoking mothers. This drug induces apoptosis, affects sex hormone secretion, and leads to male ...
  • Novel frameshift variant in gene SALL4 causing Okihiro syndrome 

    Alves, Leandro Ucela; Alvarez Perez, Ana Beatriz [UNIFESP]; Alonso, Luis Garcia [UNIFESP]; Otto, Paulo Alberto; Mingroni-Netto, Regina Celia (Elsevier Science Bv, 2016)
    Okihiro syndrome, Duane-radial ray syndrome or acro-reno-ocular syndrome (OMIM #607323) are alternative denominations describing an extremely variable condition, characterized by several radial defects of the upper limbs ...
  • Prenatal and lactation nicotine exposure affects Sertoli cell and gonadotropin levels in rats 

    Paccola, C. C. [UNIFESP]; Miraglia, S. M. [UNIFESP] (Bioscientifica Ltd, 2016)
    Nicotine is largely consumed in the world as a component of cigarettes. It can cross the placenta and reach the milk of smoking mothers. This drug induces apoptosis, affects sex hormone secretion, and leads to male ...
  • Novel frameshift variant in gene SALL4 causing Okihiro syndrome 

    Alves, Leandro Ucela; Alvarez Perez, Ana Beatriz [UNIFESP]; Alonso, Luis Garcia [UNIFESP]; Otto, Paulo Alberto; Mingroni-Netto, Regina Celia (Elsevier Science Bv, 2016)
    Okihiro syndrome, Duane-radial ray syndrome or acro-reno-ocular syndrome (OMIM #607323) are alternative denominations describing an extremely variable condition, characterized by several radial defects of the upper limbs ...
  • The antineoplastic busulphan impairs peritubular and Leydig cells, and vitamin B-12 stimulates spermatogonia proliferation and prevents busulphan-induced germ cell death 

    Sasso-Cerri, Estela; Oliveira, Barbara; de Santi, Fabiane [UNIFESP]; Beltrame, Flavia L. [UNIFESP]; Caneguim, Breno H. [UNIFESP]; Cerri, Paulo S. (Elsevier France-Editions Scientifiques Medicales Elsevier, 2017)
    Busulphan (Bu), an alkylating agent used for bone marrow and spermatogonial stem cell transplantation (SSCT), impairs Sertoli (SC) cells, which are necessary for the spermatogonial stem cell (SSC) homing during transplantation. ...
  • Determining the frequency of morphological characteristics in a sample of Brazilian children 

    Perrone, Eduardo [UNIFESP]; Zanolla, Thais Arbocese [UNIFESP]; Fock, Rodrigo Ambrosio [UNIFESP]; Alvarez Perez, Ana Beatriz [UNIFESP]; Brunoni, Decio (Soc Brasil Pediatria, 2017)
    Objective: To establish the frequency of 82 morphological features in a sample of Brazilian children (between 3 and 13 years old), to understand the influence of age, gender, and ethnicity. Methods: This was a cross-sectional ...
  • Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities 

    Sobreira, Nara; Brucato, Martha; Zhang, Li; Ladd-Acosta, Christine; Ongaco, Chrissie; Romm, Jane; Doheny, Kimberly F.; Mingroni-Netto, Regina C.; Bertola, Debora; Kim, Chong A.; Perez, Ana B. A. [UNIFESP]; Melaragno, Maria I. [UNIFESP]; Valle, David; Meloni, Vera A.; Bjornsson, Hans T. (Nature Publishing Group, 2017)
    Kabuki syndrome is a monogenic disorder caused by loss of function variants in either of two genes encoding histone-modifying enzymes. We performed targeted sequencing in a cohort of 27 probands with a clinical diagnosis ...
  • Summaries of plenary, symposia, and oral sessions at the XXII World Congress of Psychiatric Genetics, Copenhagen, Denmark, 12-16 October 2014 

    Aas, Monica; Blokland, Gabriella A. M.; Chawner, Samuel J. R. A.; Choi, Shing-Wan; Estrada, Jose; Forsingdal, Annika; Friedrich, Maximilian; Ganesham, Suhas; Hall, Lynsey; Haslinger, Denise; Huckins, Laura; Loken, Erik; Malan-Muller, Stefanie; Martin, Joanna; Misiewicz, Zuzanna; Pagliaroli, Luca; Pardinas, Antonio F.; Pisanu, Claudia; Quadri, Giorgia; Santoro, Marcos L. [UNIFESP]; Shaw, Alex D.; Ranlund, Siri; Song, Jie; Tesli, Martin; Tropeano, Maria; van der Voet, Monique; Wolfe, Kate; Cormack, Freida K.; DeLisi, Lynn (Lippincott Williams & Wilkins, 2016)
    The XXII World Congress of Psychiatric Genetics, sponsored by the International Society of Psychiatric Genetics, took place in Copenhagen, Denmark, on 12-16 October 2014. A total of 883 participants gathered to discuss the ...
  • Intubação orotraqueal e disfunção temporomandibular: estudo longitudinal controlado 

    Battistella, Claudia Branco [UNIFESP]; Machado, Flavia Ribeiro [UNIFESP]; Juliano, Yara; Guimaraes, Antonio Sergio [UNIFESP]; Tanaka, Cassia Emi [UNIFESP]; de Souza Garbim, Cristina Tala [UNIFESP]; da Rocha Fonseca, Paula de Maria [UNIFESP]; Sanches, Monique Lalue [UNIFESP] (Elsevier Science Inc, 2016)
    Background and objectives: To determine the incidence of signs and symptoms of temporomandibular disorder in elective surgery patients who underwent orotracheal intubation. Methods: This was a longitudinal controlled study ...
  • Osteocytic connexin 43 is not required for the increase in bone mass induced by intermittent PTH administration in male mice 

    Pacheco-Costa, R. [UNIFESP]; Davis, H. M.; Atkinson, E. G.; Katchburian, E. [UNIFESP]; Plotkin, L. I.; Reginato, R. D. [UNIFESP] (Jmni, 2016)
    Objective: To investigate whether osteocytic connexin 43 (Cx43) is required for the bone response to intermittent PTH administration, and whether the connexin is involved in maintaining the bone matrix. Methods: Human ...

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