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Artigo de periodico
Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF-β, hedgehog, and FGF signaling (2018)
Roessler, Erich; Hu, Ping; Marino, Juliana; Hong, Sungkook; Hart, Rachel; Berger, Seth; Martinez , Ariel; Abe, Yu; Kruszka, Paul; Thomas, James W; Mullikin, James C; NISC Comparative Sequencing Program; Wang, Yupeng; Wong, Wendy S. W; Niederhuber, John E; Solomon, Benjamin D; Richieri-Costa, Antonio; Bicudo, Lucilene Arilho Ribeiro; Muenke, Maximilian
Source: Human Mutation. Unidade: HRAC
Subjects: HOLOPROSENCEFALIA, MALFORMAÇÕES, MUTAÇÃO GENÉTICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
ROESSLER, Erich et al. Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF-β, hedgehog, and FGF signaling. Human Mutation, v. 39, n. 10, p. 1416-1427, 2018Tradução . . Disponível em: https://doi.org/10.1002/humu.23590. Acesso em: 07 nov. 2024.
APA
Roessler, E., Hu, P., Marino, J., Hong, S., Hart, R., Berger, S., et al. (2018). Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF-β, hedgehog, and FGF signaling. Human Mutation, 39( 10), 1416-1427. doi:10.1002/humu.23590
NLM
Roessler E, Hu P, Marino J, Hong S, Hart R, Berger S, Martinez A, Abe Y, Kruszka P, Thomas JW, Mullikin JC, NISC Comparative Sequencing Program, Wang Y, Wong WSW, Niederhuber JE, Solomon BD, Richieri-Costa A, Bicudo LAR, Muenke M. Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF-β, hedgehog, and FGF signaling [Internet]. Human Mutation. 2018 ; 39( 10): 1416-1427.[citado 2024 nov. 07 ] Available from: https://doi.org/10.1002/humu.23590
Vancouver
Roessler E, Hu P, Marino J, Hong S, Hart R, Berger S, Martinez A, Abe Y, Kruszka P, Thomas JW, Mullikin JC, NISC Comparative Sequencing Program, Wang Y, Wong WSW, Niederhuber JE, Solomon BD, Richieri-Costa A, Bicudo LAR, Muenke M. Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF-β, hedgehog, and FGF signaling [Internet]. Human Mutation. 2018 ; 39( 10): 1416-1427.[citado 2024 nov. 07 ] Available from: https://doi.org/10.1002/humu.23590
Artigo de periodico
Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome (2016)
Hong, Sungkook; Hu, Ping; Marino, Juliana; Hufnagel, Sophia B.; Hopkin, Robert J.; Toromanovic, Alma; Richieri-Costa, Antonio; Bicudo, Lucilene A. Ribeiro; Kruszka, Paul; Roessler, Erich; Muenke, Maximilian
Source: Human Molecular Genetics. Unidade: HRAC
Subjects: MUTAÇÃO GENÉTICA, HOLOPROSENCEFALIA, FENÓTIPOS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
HONG, Sungkook et al. Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome. Human Molecular Genetics, v. 25, n. 10, 2016Tradução . . Disponível em: https://doi.org/10.1093/hmg/ddw064. Acesso em: 07 nov. 2024.
APA
Hong, S., Hu, P., Marino, J., Hufnagel, S. B., Hopkin, R. J., Toromanovic, A., et al. (2016). Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome. Human Molecular Genetics, 25( 10). doi:10.1093/hmg/ddw064
NLM
Hong S, Hu P, Marino J, Hufnagel SB, Hopkin RJ, Toromanovic A, Richieri-Costa A, Bicudo LAR, Kruszka P, Roessler E, Muenke M. Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome [Internet]. Human Molecular Genetics. 2016 ; 25( 10):[citado 2024 nov. 07 ] Available from: https://doi.org/10.1093/hmg/ddw064
Vancouver
Hong S, Hu P, Marino J, Hufnagel SB, Hopkin RJ, Toromanovic A, Richieri-Costa A, Bicudo LAR, Kruszka P, Roessler E, Muenke M. Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome [Internet]. Human Molecular Genetics. 2016 ; 25( 10):[citado 2024 nov. 07 ] Available from: https://doi.org/10.1093/hmg/ddw064
Artigo de periodico
Unique alterations of an ultraconserved non-coding Element in the 3′UTR of ZIC2 in holoprosencephaly (2012)
Roessler, E; Hu, Ping; Hong, Sung-Kook; Srivastava, Kshitij; Carrington, Blake; Sood, Raman; Petrykowska, Hanna; Elnitski, Laura; Ribeiro, Lucilene Arilho; Richieri-Costa, Antonio ; Feldman, Benjamin; Odenwald, Ward F.; Muenke, Maximilian
Source: PLOS ONE. Unidade: HRAC
Subjects: HOLOPROSENCEFALIA, GENÉTICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
ROESSLER, E et al. Unique alterations of an ultraconserved non-coding Element in the 3′UTR of ZIC2 in holoprosencephaly. PLOS ONE, v. 7, n. 7, p. e39026, 2012Tradução . . Disponível em: https://doi.org/10.1371/journal.pone.0039026. Acesso em: 07 nov. 2024.
APA
Roessler, E., Hu, P., Hong, S. -K., Srivastava, K., Carrington, B., Sood, R., et al. (2012). Unique alterations of an ultraconserved non-coding Element in the 3′UTR of ZIC2 in holoprosencephaly. PLOS ONE, 7( 7), e39026. doi:10.1371/journal.pone.0039026
NLM
Roessler E, Hu P, Hong S-K, Srivastava K, Carrington B, Sood R, Petrykowska H, Elnitski L, Ribeiro LA, Richieri-Costa A, Feldman B, Odenwald WF, Muenke M. Unique alterations of an ultraconserved non-coding Element in the 3′UTR of ZIC2 in holoprosencephaly [Internet]. PLOS ONE. 2012 ; 7( 7): e39026.[citado 2024 nov. 07 ] Available from: https://doi.org/10.1371/journal.pone.0039026
Vancouver
Roessler E, Hu P, Hong S-K, Srivastava K, Carrington B, Sood R, Petrykowska H, Elnitski L, Ribeiro LA, Richieri-Costa A, Feldman B, Odenwald WF, Muenke M. Unique alterations of an ultraconserved non-coding Element in the 3′UTR of ZIC2 in holoprosencephaly [Internet]. PLOS ONE. 2012 ; 7( 7): e39026.[citado 2024 nov. 07 ] Available from: https://doi.org/10.1371/journal.pone.0039026
Artigo de periodico
Comparison of mutation findings in ZIC2 between microform and classical holoprosencephaly in a Brazilian cohort (2012)
Ribeiro, Lucilene Arilho; Roessler, Erich; Hu, Ping; Pineda-Alvarez, Daniel E.; Zhou, Nan; Jones, MaryPat; Chandrasekharappa, Settara; Richieri-Costa, Antonio ; Muenke, Maximilian
Source: Birth Defects Research. Part A, Clinical and Molecular Teratology.. Unidade: HRAC
Subjects: HOLOPROSENCEFALIA, POLIMORFISMO, MUTAÇÃO GENÉTICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
RIBEIRO, Lucilene Arilho et al. Comparison of mutation findings in ZIC2 between microform and classical holoprosencephaly in a Brazilian cohort. Birth Defects Research. Part A, Clinical and Molecular Teratology., v. No 2012, n. 11, p. 912-917, 2012Tradução . . Disponível em: https://doi.org/10.1002/bdra.23047. Acesso em: 07 nov. 2024.
APA
Ribeiro, L. A., Roessler, E., Hu, P., Pineda-Alvarez, D. E., Zhou, N., Jones, M. P., et al. (2012). Comparison of mutation findings in ZIC2 between microform and classical holoprosencephaly in a Brazilian cohort. Birth Defects Research. Part A, Clinical and Molecular Teratology., No 2012( 11), 912-917. doi:10.1002/bdra.23047
NLM
Ribeiro LA, Roessler E, Hu P, Pineda-Alvarez DE, Zhou N, Jones MP, Chandrasekharappa S, Richieri-Costa A, Muenke M. Comparison of mutation findings in ZIC2 between microform and classical holoprosencephaly in a Brazilian cohort [Internet]. Birth Defects Research. Part A, Clinical and Molecular Teratology. 2012 ; No 2012( 11): 912-917.[citado 2024 nov. 07 ] Available from: https://doi.org/10.1002/bdra.23047
Vancouver
Ribeiro LA, Roessler E, Hu P, Pineda-Alvarez DE, Zhou N, Jones MP, Chandrasekharappa S, Richieri-Costa A, Muenke M. Comparison of mutation findings in ZIC2 between microform and classical holoprosencephaly in a Brazilian cohort [Internet]. Birth Defects Research. Part A, Clinical and Molecular Teratology. 2012 ; No 2012( 11): 912-917.[citado 2024 nov. 07 ] Available from: https://doi.org/10.1002/bdra.23047

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