ReP USP - Resultado da busca

Artigo de periodico
Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses (2021)
Villela, Darine ; Mazzonetto, Patricia Camacho ; Migliavacca, Michele P; Perrone, Eduardo; Guida, Gustavo; Milanezi, Maria Fernanda G; Jorge, Alexander A. L ; Ribeiro-Bicudo, Lucilene A ; Kok, Fernando ; Campagnari, Francine; Rosso-Giuliani, Liane de; Costa, Silvia Souza da; Vianna-Morgante, Angela M ; Pearson, Peter L; Krepischi, Ana Cristina Victorino ; Rosenberg, Carla
Source: American Journal of Medical Genetics. Part A. Unidades: FM, IB
Subjects: DOENÇAS GENÉTICAS, DOENÇAS CONGÊNITAS, ANORMALIDADES CROMOSSÔMICAS, TRANSTORNO AUTÍSTICO
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
VILLELA, Darine et al. Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses. American Journal of Medical Genetics. Part A, v. 185, n. 8, p. 2335-2344, 2021Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.62237. Acesso em: 14 nov. 2024.
APA
Villela, D., Mazzonetto, P. C., Migliavacca, M. P., Perrone, E., Guida, G., Milanezi, M. F. G., et al. (2021). Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses. American Journal of Medical Genetics. Part A, 185( 8), 2335-2344. doi:10.1002/ajmg.a.62237
NLM
Villela D, Mazzonetto PC, Migliavacca MP, Perrone E, Guida G, Milanezi MFG, Jorge AAL, Ribeiro-Bicudo LA, Kok F, Campagnari F, Rosso-Giuliani L de, Costa SS da, Vianna-Morgante AM, Pearson PL, Krepischi ACV, Rosenberg C. Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses [Internet]. American Journal of Medical Genetics. Part A. 2021 ; 185( 8): 2335-2344.[citado 2024 nov. 14 ] Available from: https://doi.org/10.1002/ajmg.a.62237
Vancouver
Villela D, Mazzonetto PC, Migliavacca MP, Perrone E, Guida G, Milanezi MFG, Jorge AAL, Ribeiro-Bicudo LA, Kok F, Campagnari F, Rosso-Giuliani L de, Costa SS da, Vianna-Morgante AM, Pearson PL, Krepischi ACV, Rosenberg C. Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses [Internet]. American Journal of Medical Genetics. Part A. 2021 ; 185( 8): 2335-2344.[citado 2024 nov. 14 ] Available from: https://doi.org/10.1002/ajmg.a.62237
Artigo de periodico
Collybistin binds and inhibits mTORC1 signaling: a potential novel mechanism contributing to intellectual disability and autism (2016)
Machado, Camila Oliveira Freitas; Griesi-Oliveira, Karina; Rosenberg, Carla ; Kok, Fernando; Martins, Stephanie; Passos-Bueno, Maria Rita ; Sertie, Andrea Laurato
Source: European Journal of Human Genetics. Unidades: FM, IB
Subjects: SÍNDROME X METABÓLICA, FIBROBLASTOS, TÉCNICAS CITOLÓGICAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
MACHADO, Camila Oliveira Freitas et al. Collybistin binds and inhibits mTORC1 signaling: a potential novel mechanism contributing to intellectual disability and autism. European Journal of Human Genetics, v. 24, n. 1, p. 59-65, 2016Tradução . . Disponível em: https://doi.org/10.1038/ejhg.2015.69. Acesso em: 14 nov. 2024.
APA
Machado, C. O. F., Griesi-Oliveira, K., Rosenberg, C., Kok, F., Martins, S., Passos-Bueno, M. R., & Sertie, A. L. (2016). Collybistin binds and inhibits mTORC1 signaling: a potential novel mechanism contributing to intellectual disability and autism. European Journal of Human Genetics, 24( 1), 59-65. doi:10.1038/ejhg.2015.69
NLM
Machado COF, Griesi-Oliveira K, Rosenberg C, Kok F, Martins S, Passos-Bueno MR, Sertie AL. Collybistin binds and inhibits mTORC1 signaling: a potential novel mechanism contributing to intellectual disability and autism [Internet]. European Journal of Human Genetics. 2016 ; 24( 1): 59-65.[citado 2024 nov. 14 ] Available from: https://doi.org/10.1038/ejhg.2015.69
Vancouver
Machado COF, Griesi-Oliveira K, Rosenberg C, Kok F, Martins S, Passos-Bueno MR, Sertie AL. Collybistin binds and inhibits mTORC1 signaling: a potential novel mechanism contributing to intellectual disability and autism [Internet]. European Journal of Human Genetics. 2016 ; 24( 1): 59-65.[citado 2024 nov. 14 ] Available from: https://doi.org/10.1038/ejhg.2015.69
Artigo de periodico
A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features (2012)
Molin, A. M; Andrieux, J; Koolen, D. A; Malan, V; Carella, M; Colleaux, L; Cormier-Daire, V; David, A; Leeuw, N de; Delobel, B; Duban-Bedu, B; Fischetto, R; Flinter, F; Kjaergaard, S; Kok, Fernando; Krepischi, Ana Cristina Victorino ; Le Caignec, C; Mackie Ogilvie, C; Maia, S; Mathieu-Dramard, M; Minnich, A; Palumbo, O; Papadia, F; Pfundt, R; Reardon, W; Receveur, A; Rio, M; Ronsbro Darling,L; Rosenberg, Carla ; Sá, J; Vallee, L; Vincent-Delorme, C; Zelante, L; Bondeson, M-L; Annerén, G
Source: Journal of Medical Genetics. Unidade: IB
Subjects: RETARDO MENTAL, GENÓTIPOS, FENÓTIPOS, ANOMALIA FACIAL, GENÉTICA MÉDICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
MOLIN, A. M et al. A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features. Journal of Medical Genetics, v. 49, n. 2, p. 104-109, 2012Tradução . . Disponível em: https://doi.org/10.1136/jmedgenet-2011-100534. Acesso em: 14 nov. 2024.
APA
Molin, A. M., Andrieux, J., Koolen, D. A., Malan, V., Carella, M., Colleaux, L., et al. (2012). A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features. Journal of Medical Genetics, 49( 2), 104-109. doi:10.1136/jmedgenet-2011-100534
NLM
Molin AM, Andrieux J, Koolen DA, Malan V, Carella M, Colleaux L, Cormier-Daire V, David A, Leeuw N de, Delobel B, Duban-Bedu B, Fischetto R, Flinter F, Kjaergaard S, Kok F, Krepischi ACV, Le Caignec C, Mackie Ogilvie C, Maia S, Mathieu-Dramard M, Minnich A, Palumbo O, Papadia F, Pfundt R, Reardon W, Receveur A, Rio M, Ronsbro Darling L, Rosenberg C, Sá J, Vallee L, Vincent-Delorme C, Zelante L, Bondeson M-L, Annerén G. A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features [Internet]. Journal of Medical Genetics. 2012 ; 49( 2): 104-109.[citado 2024 nov. 14 ] Available from: https://doi.org/10.1136/jmedgenet-2011-100534
Vancouver
Molin AM, Andrieux J, Koolen DA, Malan V, Carella M, Colleaux L, Cormier-Daire V, David A, Leeuw N de, Delobel B, Duban-Bedu B, Fischetto R, Flinter F, Kjaergaard S, Kok F, Krepischi ACV, Le Caignec C, Mackie Ogilvie C, Maia S, Mathieu-Dramard M, Minnich A, Palumbo O, Papadia F, Pfundt R, Reardon W, Receveur A, Rio M, Ronsbro Darling L, Rosenberg C, Sá J, Vallee L, Vincent-Delorme C, Zelante L, Bondeson M-L, Annerén G. A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features [Internet]. Journal of Medical Genetics. 2012 ; 49( 2): 104-109.[citado 2024 nov. 14 ] Available from: https://doi.org/10.1136/jmedgenet-2011-100534
Artigo de periodico
Two distinct regions in 2q24.2-q24.3 associated with idiopathic epilepsy (2010)
Krepischi, Ana Cristina Victorino ; Knijnenburg, Jeroen; Bertola, Debora Romeu; Kim, Chong Ae; Pearson, Peter Lees; Bijlsma, Emilia; Szuhai, Karoly; Kok, Fernando; Vianna-Morgante, Angela M ; Rosenberg, Carla
Source: Epilepsia. Unidade: IB
Subjects: EPILEPSIA, GENÉTICA, NEUROLOGIA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
KREPISCHI, Ana Cristina Victorino et al. Two distinct regions in 2q24.2-q24.3 associated with idiopathic epilepsy. Epilepsia, v. 51 n. 12, p. 2457-2460, 2010Tradução . . Disponível em: https://doi.org/10.1111/j.1528-1167.2010.02742.x. Acesso em: 14 nov. 2024.
APA
Krepischi, A. C. V., Knijnenburg, J., Bertola, D. R., Kim, C. A., Pearson, P. L., Bijlsma, E., et al. (2010). Two distinct regions in 2q24.2-q24.3 associated with idiopathic epilepsy. Epilepsia, 51 n. 12, 2457-2460. doi:10.1111/j.1528-1167.2010.02742.x
NLM
Krepischi ACV, Knijnenburg J, Bertola DR, Kim CA, Pearson PL, Bijlsma E, Szuhai K, Kok F, Vianna-Morgante AM, Rosenberg C. Two distinct regions in 2q24.2-q24.3 associated with idiopathic epilepsy [Internet]. Epilepsia. 2010 ; 51 n. 12 2457-2460.[citado 2024 nov. 14 ] Available from: https://doi.org/10.1111/j.1528-1167.2010.02742.x
Vancouver
Krepischi ACV, Knijnenburg J, Bertola DR, Kim CA, Pearson PL, Bijlsma E, Szuhai K, Kok F, Vianna-Morgante AM, Rosenberg C. Two distinct regions in 2q24.2-q24.3 associated with idiopathic epilepsy [Internet]. Epilepsia. 2010 ; 51 n. 12 2457-2460.[citado 2024 nov. 14 ] Available from: https://doi.org/10.1111/j.1528-1167.2010.02742.x
Artigo de periodico
Chromosome imbalances in syndromic hearing loss (2009)
Catelani, A.L.P.M.; Krepischi, Ana Cristina Victorino ; Kim, C. A.; Kok, Fernando; Otto, Paulo A ; Auricchio, Maria Teresa Ballester de Melo; Mazzeu, Juliana Forte; Uehara, D. T.; Costa, S. S.; Knijnenburg, Jeroen; Tabith Junior, Alfredo; Vianna-Morgante, Angela M ; Mingroni Netto, Regina Celia ; Rosenberg, Carla
Source: Clinical Genetics. Unidade: IB
Subjects: CROMOSSOMOS, MUTAÇÃO GENÉTICA, SURDEZ
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
CATELANI, A.L.P.M. et al. Chromosome imbalances in syndromic hearing loss. Clinical Genetics, v. 76, n. 5, p. 458-464, 2009Tradução . . Disponível em: https://doi.org/10.1111/j.1399-0004.2009.01276.x. Acesso em: 14 nov. 2024.
APA
Catelani, A. L. P. M., Krepischi, A. C. V., Kim, C. A., Kok, F., Otto, P. A., Auricchio, M. T. B. de M., et al. (2009). Chromosome imbalances in syndromic hearing loss. Clinical Genetics, 76( 5), 458-464. doi:10.1111/j.1399-0004.2009.01276.x
NLM
Catelani ALPM, Krepischi ACV, Kim CA, Kok F, Otto PA, Auricchio MTB de M, Mazzeu JF, Uehara DT, Costa SS, Knijnenburg J, Tabith Junior A, Vianna-Morgante AM, Mingroni Netto RC, Rosenberg C. Chromosome imbalances in syndromic hearing loss [Internet]. Clinical Genetics. 2009 ; 76( 5): 458-464.[citado 2024 nov. 14 ] Available from: https://doi.org/10.1111/j.1399-0004.2009.01276.x
Vancouver
Catelani ALPM, Krepischi ACV, Kim CA, Kok F, Otto PA, Auricchio MTB de M, Mazzeu JF, Uehara DT, Costa SS, Knijnenburg J, Tabith Junior A, Vianna-Morgante AM, Mingroni Netto RC, Rosenberg C. Chromosome imbalances in syndromic hearing loss [Internet]. Clinical Genetics. 2009 ; 76( 5): 458-464.[citado 2024 nov. 14 ] Available from: https://doi.org/10.1111/j.1399-0004.2009.01276.x
Trabalho de evento-resumo
2q24.2 microdeletions encompassing the SLC4A10 gene are associated with idiopathic epilepsy and mental impairment (2009)
Krepischi, Ana Cristina Victorino ; Knijnenburg, Jeroen; Bertola, Débora Romeo; Kim, Chong Ae; Kok, Fernando; Vianna-Morgante, Angela M ; Rosenberg, Carla
Source: Abstracts. Conference titles: International Workshop on Fragile X and X-Linked Mental Retardation. Unidade: IB
Assunto: RETARDO MENTAL
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
KREPISCHI, Ana Cristina Victorino et al. 2q24.2 microdeletions encompassing the SLC4A10 gene are associated with idiopathic epilepsy and mental impairment. 2009, Anais.. Salvador: Instituto de Biociências, Universidade de São Paulo, 2009. . Acesso em: 14 nov. 2024.
APA
Krepischi, A. C. V., Knijnenburg, J., Bertola, D. R., Kim, C. A., Kok, F., Vianna-Morgante, A. M., & Rosenberg, C. (2009). 2q24.2 microdeletions encompassing the SLC4A10 gene are associated with idiopathic epilepsy and mental impairment. In Abstracts. Salvador: Instituto de Biociências, Universidade de São Paulo.
NLM
Krepischi ACV, Knijnenburg J, Bertola DR, Kim CA, Kok F, Vianna-Morgante AM, Rosenberg C. 2q24.2 microdeletions encompassing the SLC4A10 gene are associated with idiopathic epilepsy and mental impairment. Abstracts. 2009 ;[citado 2024 nov. 14 ]
Vancouver
Krepischi ACV, Knijnenburg J, Bertola DR, Kim CA, Kok F, Vianna-Morgante AM, Rosenberg C. 2q24.2 microdeletions encompassing the SLC4A10 gene are associated with idiopathic epilepsy and mental impairment. Abstracts. 2009 ;[citado 2024 nov. 14 ]
Artigo de periodico
An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome (2005)
Jehee, Fernanda Sarquis; Rosenberg, Carla ; Krepischi, Ana Cristina Victorino ; Kok, Fernando; Knijnenburg, Jeroen; Froyen, Guy; Vianna-Morgante, Angela M ; Opitz, John M.; Passos-Bueno, Maria Rita
Source: American Journal of Medical Genetics. Unidade: IB
Subjects: CROMOSSOMO X (ANOMALIAS), MALFORMAÇÕES, DOENÇAS GENÉTICAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
JEHEE, Fernanda Sarquis et al. An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome. American Journal of Medical Genetics, v. 139A, n. 3, p. 221-225, 2005Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.30991. Acesso em: 14 nov. 2024.
APA
Jehee, F. S., Rosenberg, C., Krepischi, A. C. V., Kok, F., Knijnenburg, J., Froyen, G., et al. (2005). An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome. American Journal of Medical Genetics, 139A( 3), 221-225. doi:10.1002/ajmg.a.30991
NLM
Jehee FS, Rosenberg C, Krepischi ACV, Kok F, Knijnenburg J, Froyen G, Vianna-Morgante AM, Opitz JM, Passos-Bueno MR. An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome [Internet]. American Journal of Medical Genetics. 2005 ; 139A( 3): 221-225.[citado 2024 nov. 14 ] Available from: https://doi.org/10.1002/ajmg.a.30991
Vancouver
Jehee FS, Rosenberg C, Krepischi ACV, Kok F, Knijnenburg J, Froyen G, Vianna-Morgante AM, Opitz JM, Passos-Bueno MR. An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome [Internet]. American Journal of Medical Genetics. 2005 ; 139A( 3): 221-225.[citado 2024 nov. 14 ] Available from: https://doi.org/10.1002/ajmg.a.30991

USP Schools

ReP

Filtros

Authors

USP affiliated authors

Date published

Subjects

Source title

Indexado em

Non normalized affiliation