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Artigo de periodico
Using a combination of MLPA kits to detect chromosomal imbalances in patients with multiple congenital anomalies and mental retardation is a valuable choice for developing countries (2011)
Jehee, Fernanda Sarquis; Takamori, Jean Tetsuo; Medeiros, Paula F. Vasconcelos; Pordeus, Ana Carolina B.; Latini, Flavia Roche M.; Bertola, Débora Romeo; Kim, Chong Ae; Passos-Bueno, Maria Rita
Source: European Journal of Medical Genetics. Unidade: IB
Subjects: ANORMALIDADES CROMOSSÔMICAS, RETARDO MENTAL, POLIMORFISMO
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
JEHEE, Fernanda Sarquis et al. Using a combination of MLPA kits to detect chromosomal imbalances in patients with multiple congenital anomalies and mental retardation is a valuable choice for developing countries. European Journal of Medical Genetics, v. 54, n. 4, p. e425-e432, 2011Tradução . . Disponível em: https://doi.org/10.1016/j.ejmg.2011.03.007. Acesso em: 04 nov. 2024.
APA
Jehee, F. S., Takamori, J. T., Medeiros, P. F. V., Pordeus, A. C. B., Latini, F. R. M., Bertola, D. R., et al. (2011). Using a combination of MLPA kits to detect chromosomal imbalances in patients with multiple congenital anomalies and mental retardation is a valuable choice for developing countries. European Journal of Medical Genetics, 54( 4), e425-e432. doi:10.1016/j.ejmg.2011.03.007
NLM
Jehee FS, Takamori JT, Medeiros PFV, Pordeus ACB, Latini FRM, Bertola DR, Kim CA, Passos-Bueno MR. Using a combination of MLPA kits to detect chromosomal imbalances in patients with multiple congenital anomalies and mental retardation is a valuable choice for developing countries [Internet]. European Journal of Medical Genetics. 2011 ; 54( 4): e425-e432.[citado 2024 nov. 04 ] Available from: https://doi.org/10.1016/j.ejmg.2011.03.007
Vancouver
Jehee FS, Takamori JT, Medeiros PFV, Pordeus ACB, Latini FRM, Bertola DR, Kim CA, Passos-Bueno MR. Using a combination of MLPA kits to detect chromosomal imbalances in patients with multiple congenital anomalies and mental retardation is a valuable choice for developing countries [Internet]. European Journal of Medical Genetics. 2011 ; 54( 4): e425-e432.[citado 2024 nov. 04 ] Available from: https://doi.org/10.1016/j.ejmg.2011.03.007
Artigo de periodico
MLPA analysis in 30 Sotos syndrome patients revealed one total NSD1 deletion and two partial deletions not previously reported (2009)
Fagali, Claudia Quadros; Kok, Fernando; Nicola, Pablo; Kim, Chong A.; Bertola, Débora Romeo; Albano, Lilian Maria José; Koiffmann, Celia Priszkulnik
Source: European Journal of Medical Genetics. Unidade: IB
Assunto: ANORMALIDADES CROMOSSÔMICAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
FAGALI, Claudia Quadros et al. MLPA analysis in 30 Sotos syndrome patients revealed one total NSD1 deletion and two partial deletions not previously reported. European Journal of Medical Genetics, v. 52, n. 5, p. 333-336, 2009Tradução . . Disponível em: https://doi.org/10.1016/j.ejmg.2009.07.001. Acesso em: 04 nov. 2024.
APA
Fagali, C. Q., Kok, F., Nicola, P., Kim, C. A., Bertola, D. R., Albano, L. M. J., & Koiffmann, C. P. (2009). MLPA analysis in 30 Sotos syndrome patients revealed one total NSD1 deletion and two partial deletions not previously reported. European Journal of Medical Genetics, 52( 5), 333-336. doi:10.1016/j.ejmg.2009.07.001
NLM
Fagali CQ, Kok F, Nicola P, Kim CA, Bertola DR, Albano LMJ, Koiffmann CP. MLPA analysis in 30 Sotos syndrome patients revealed one total NSD1 deletion and two partial deletions not previously reported [Internet]. European Journal of Medical Genetics. 2009 ; 52( 5): 333-336.[citado 2024 nov. 04 ] Available from: https://doi.org/10.1016/j.ejmg.2009.07.001
Vancouver
Fagali CQ, Kok F, Nicola P, Kim CA, Bertola DR, Albano LMJ, Koiffmann CP. MLPA analysis in 30 Sotos syndrome patients revealed one total NSD1 deletion and two partial deletions not previously reported [Internet]. European Journal of Medical Genetics. 2009 ; 52( 5): 333-336.[citado 2024 nov. 04 ] Available from: https://doi.org/10.1016/j.ejmg.2009.07.001
Artigo de periodico
A new case of interstitial 6q16.2 deletion in a patient with Prader-Willi-like phenotype and investigation of SIM1 gene deletion in 87 patients with syndromic obesity (2006)
Varela, Monica Castro; Simões-Sato, Alex Y.; Kim, Chong A.; Bertola, Débora Romeo; Castro, Cláudia Irene Emílio de; Koiffmann, Celia Priszkulnik
Source: European Journal of Medical Genetics. Unidade: IB
Subjects: ANORMALIDADES CROMOSSÔMICAS, OBESIDADE
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
VARELA, Monica Castro et al. A new case of interstitial 6q16.2 deletion in a patient with Prader-Willi-like phenotype and investigation of SIM1 gene deletion in 87 patients with syndromic obesity. European Journal of Medical Genetics, v. 49, n. 4, p. 298-305, 2006Tradução . . Acesso em: 04 nov. 2024.
APA
Varela, M. C., Simões-Sato, A. Y., Kim, C. A., Bertola, D. R., Castro, C. I. E. de, & Koiffmann, C. P. (2006). A new case of interstitial 6q16.2 deletion in a patient with Prader-Willi-like phenotype and investigation of SIM1 gene deletion in 87 patients with syndromic obesity. European Journal of Medical Genetics, 49( 4), 298-305.
NLM
Varela MC, Simões-Sato AY, Kim CA, Bertola DR, Castro CIE de, Koiffmann CP. A new case of interstitial 6q16.2 deletion in a patient with Prader-Willi-like phenotype and investigation of SIM1 gene deletion in 87 patients with syndromic obesity. European Journal of Medical Genetics. 2006 ; 49( 4): 298-305.[citado 2024 nov. 04 ]
Vancouver
Varela MC, Simões-Sato AY, Kim CA, Bertola DR, Castro CIE de, Koiffmann CP. A new case of interstitial 6q16.2 deletion in a patient with Prader-Willi-like phenotype and investigation of SIM1 gene deletion in 87 patients with syndromic obesity. European Journal of Medical Genetics. 2006 ; 49( 4): 298-305.[citado 2024 nov. 04 ]
Artigo de periodico
Prader-Willi-like phenotype: investigation of 1p36 deletion in 41 patients with delayed psychomotor development, hypotonia, obesity and/or hyperphagia, learning disabilities and behavioral problems (2006)
D'Angelo, Carla Sustek; Paz, José A. da; Kim, Chong A.; Bertola, Débora Romeo; Castro, Cláudia Irene Emílio de; Varela, Monica Castro; Koiffmann, Celia Priszkulnik
Source: European Journal of Medical Genetics. Unidade: IB
Subjects: ANORMALIDADES CROMOSSÔMICAS, OBESIDADE
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
D'ANGELO, Carla Sustek et al. Prader-Willi-like phenotype: investigation of 1p36 deletion in 41 patients with delayed psychomotor development, hypotonia, obesity and/or hyperphagia, learning disabilities and behavioral problems. European Journal of Medical Genetics, v. 49, n. 6, p. 451-460, 2006Tradução . . Disponível em: https://doi.org/10.1016/j.ejmg.2006.02.001. Acesso em: 04 nov. 2024.
APA
D'Angelo, C. S., Paz, J. A. da, Kim, C. A., Bertola, D. R., Castro, C. I. E. de, Varela, M. C., & Koiffmann, C. P. (2006). Prader-Willi-like phenotype: investigation of 1p36 deletion in 41 patients with delayed psychomotor development, hypotonia, obesity and/or hyperphagia, learning disabilities and behavioral problems. European Journal of Medical Genetics, 49( 6), 451-460. doi:10.1016/j.ejmg.2006.02.001
NLM
D'Angelo CS, Paz JA da, Kim CA, Bertola DR, Castro CIE de, Varela MC, Koiffmann CP. Prader-Willi-like phenotype: investigation of 1p36 deletion in 41 patients with delayed psychomotor development, hypotonia, obesity and/or hyperphagia, learning disabilities and behavioral problems [Internet]. European Journal of Medical Genetics. 2006 ; 49( 6): 451-460.[citado 2024 nov. 04 ] Available from: https://doi.org/10.1016/j.ejmg.2006.02.001
Vancouver
D'Angelo CS, Paz JA da, Kim CA, Bertola DR, Castro CIE de, Varela MC, Koiffmann CP. Prader-Willi-like phenotype: investigation of 1p36 deletion in 41 patients with delayed psychomotor development, hypotonia, obesity and/or hyperphagia, learning disabilities and behavioral problems [Internet]. European Journal of Medical Genetics. 2006 ; 49( 6): 451-460.[citado 2024 nov. 04 ] Available from: https://doi.org/10.1016/j.ejmg.2006.02.001

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