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Artigo de periodico
Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome (2018)
Kievit, Anneke; Tessadori, Federico; Douben, Hannie; Jordens, Ingrid; Maurice, Madelon; Hoogeboom, Jeannette; Hennekam, Raoul; Nampoothiri, Sheela; Kayserili, Hülya; Castori, Marco; Whiteford, Margo; Motter, Connie; Melver, Catherine; Cunningham, Michael; Hing, Anne; Nakata, Nancy Mizue Kokitsu; Pittoli, Siulan Vendramini Paulovich; Richieri-Costa, Antonio; Baas, Annette F.; Breugem, Corstiaan C. ; Duran, Karen; Massink, Maarten; Derksen, Patrick W. B.; IJcken, Wilfred F. J. van; Unen, Leontine van; Simarro, Fernando Santos; Lapunzina, Pablo; Lopes, Vera Lúcia Gil da Silva; Mendes, Elaine Lustosa; Krall, Max; Slavotinek, Anne; Victor Martinez-Glez; Bakkers, Jeroen; Gassen, Koen L. I. van; Klein, Annelies de; Boogaard, Marie-José H. van den; Haaften, Gijs van
Source: European Journal of Human Genetics. Unidade: HRAC
Subjects: MUTAÇÃO GENÉTICA, ANOMALIA DENTÁRIA, FISSURA LÁBIOPALATINA, ANORMALIDADES CRANIOFACIAIS
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ABNT
KIEVIT, Anneke et al. Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome. European Journal of Human Genetics, v. 26, n. 2, p. 210-219, 2018Tradução . . Disponível em: https://doi.org/10.1038/s41431-017-0010-5. Acesso em: 02 nov. 2024.
APA
Kievit, A., Tessadori, F., Douben, H., Jordens, I., Maurice, M., Hoogeboom, J., et al. (2018). Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome. European Journal of Human Genetics, 26( 2), 210-219. doi:10.1038/s41431-017-0010-5
NLM
Kievit A, Tessadori F, Douben H, Jordens I, Maurice M, Hoogeboom J, Hennekam R, Nampoothiri S, Kayserili H, Castori M, Whiteford M, Motter C, Melver C, Cunningham M, Hing A, Nakata NMK, Pittoli SVP, Richieri-Costa A, Baas AF, Breugem CC, Duran K, Massink M, Derksen PWB, IJcken WFJ van, Unen L van, Simarro FS, Lapunzina P, Lopes VLG da S, Mendes EL, Krall M, Slavotinek A, Victor Martinez-Glez, Bakkers J, Gassen KLI van, Klein A de, Boogaard M-JH van den, Haaften G van. Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome [Internet]. European Journal of Human Genetics. 2018 ; 26( 2): 210-219.[citado 2024 nov. 02 ] Available from: https://doi.org/10.1038/s41431-017-0010-5
Vancouver
Kievit A, Tessadori F, Douben H, Jordens I, Maurice M, Hoogeboom J, Hennekam R, Nampoothiri S, Kayserili H, Castori M, Whiteford M, Motter C, Melver C, Cunningham M, Hing A, Nakata NMK, Pittoli SVP, Richieri-Costa A, Baas AF, Breugem CC, Duran K, Massink M, Derksen PWB, IJcken WFJ van, Unen L van, Simarro FS, Lapunzina P, Lopes VLG da S, Mendes EL, Krall M, Slavotinek A, Victor Martinez-Glez, Bakkers J, Gassen KLI van, Klein A de, Boogaard M-JH van den, Haaften G van. Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome [Internet]. European Journal of Human Genetics. 2018 ; 26( 2): 210-219.[citado 2024 nov. 02 ] Available from: https://doi.org/10.1038/s41431-017-0010-5
Artigo de periodico
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases (2015)
Verloes, Alain; Di Donato, Nataliya; Masliah-Planchon, Julien; Jongmans, Marjolijn; Abdul-Raman, Omar A.; Albrecht, Beate; Allanson, Judith; Brunnner, Han; Bertola, Débora; Chassaing, Nicolas; David, Albert; Devriendt, Koen; Eftekhari, Pirayeh; Drouin-Garraud, Valérie; Faravelli, Francesca; Faivre, Laurence; Giuliano, Fabienne; Guion-Almeida, Maria Leine; Juncos, Jorge; Kempers, Marlies; Eker, Hatice Koçak; Lacombe, Didier; Lin, Angela; Mancini, Grazia; Melis, Daniela; Lourenço, Charles Marques; Siu, Victoria Mok; Morin, Gilles; Nezarati, Marjan; Nowaczyk, Malgorzata J. M.; Ramer, Jeanette C.; Osimani, Sara; Philip, Nicole; Pierpont, Mary Ella; Procraccio, Vincent; Zechi-Ceide, Roseli Maria; Rossi, Massimiliano; Rusu, Cristina; Sznajer, Yves; Templin, Ludivine; Uliana, Vera; Klaus, Mirjam; Van Bon, Bregje; Van Ravenswaaij, Conny; Wainer, Bruce; Fry, Andrew E.; Rump, Andreas; Hoischen, Alexander; Drunat, Séverine; Rivière, Jean-Baptiste; Dobyns, William B.; Pilz, Daniela T.
Source: European Journal of Human Genetics. Unidade: HRAC
Subjects: GENÉTICA MÉDICA, ANORMALIDADES CRANIOFACIAIS, MUTAÇÃO GENÉTICA
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ABNT
VERLOES, Alain et al. Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. European Journal of Human Genetics, v. 23, n. 3, p. 292-301, 2015Tradução . . Disponível em: https://doi.org/10.1038/ejhg.2014.95. Acesso em: 02 nov. 2024.
APA
Verloes, A., Di Donato, N., Masliah-Planchon, J., Jongmans, M., Abdul-Raman, O. A., Albrecht, B., et al. (2015). Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. European Journal of Human Genetics, 23( 3), 292-301. doi:10.1038/ejhg.2014.95
NLM
Verloes A, Di Donato N, Masliah-Planchon J, Jongmans M, Abdul-Raman OA, Albrecht B, Allanson J, Brunnner H, Bertola D, Chassaing N, David A, Devriendt K, Eftekhari P, Drouin-Garraud V, Faravelli F, Faivre L, Giuliano F, Guion-Almeida ML, Juncos J, Kempers M, Eker HK, Lacombe D, Lin A, Mancini G, Melis D, Lourenço CM, Siu VM, Morin G, Nezarati M, Nowaczyk MJM, Ramer JC, Osimani S, Philip N, Pierpont ME, Procraccio V, Zechi-Ceide RM, Rossi M, Rusu C, Sznajer Y, Templin L, Uliana V, Klaus M, Van Bon B, Van Ravenswaaij C, Wainer B, Fry AE, Rump A, Hoischen A, Drunat S, Rivière J-B, Dobyns WB, Pilz DT. Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases [Internet]. European Journal of Human Genetics. 2015 ; 23( 3): 292-301.[citado 2024 nov. 02 ] Available from: https://doi.org/10.1038/ejhg.2014.95
Vancouver
Verloes A, Di Donato N, Masliah-Planchon J, Jongmans M, Abdul-Raman OA, Albrecht B, Allanson J, Brunnner H, Bertola D, Chassaing N, David A, Devriendt K, Eftekhari P, Drouin-Garraud V, Faravelli F, Faivre L, Giuliano F, Guion-Almeida ML, Juncos J, Kempers M, Eker HK, Lacombe D, Lin A, Mancini G, Melis D, Lourenço CM, Siu VM, Morin G, Nezarati M, Nowaczyk MJM, Ramer JC, Osimani S, Philip N, Pierpont ME, Procraccio V, Zechi-Ceide RM, Rossi M, Rusu C, Sznajer Y, Templin L, Uliana V, Klaus M, Van Bon B, Van Ravenswaaij C, Wainer B, Fry AE, Rump A, Hoischen A, Drunat S, Rivière J-B, Dobyns WB, Pilz DT. Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases [Internet]. European Journal of Human Genetics. 2015 ; 23( 3): 292-301.[citado 2024 nov. 02 ] Available from: https://doi.org/10.1038/ejhg.2014.95
Artigo de periodico
Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome (2015)
Yamamoto, Guilherme Lopes; Aguena, Meire; Gos, Monika; Hung, Christina; Pilch, Jacek; Fahiminiya, Somayyeh; Abramowicz, Anna; Cristian, Ingrid; Buscarilli, Michelle; Naslavsky, Michel ; Malaquias, Alexsandra C.; Zatz, Mayana ; Bodamer, Olaf; Majewski, Jacek; Jorge, Alexander A. L.; Pereira, Alexandre C.; Kim, Chong Ae; Passos-Bueno, Maria Rita ; Bertola, Débora Romeo
Source: Journal of Medical Genetics. Unidades: FM, IB
Subjects: ESTUDOS DE COORTES, ESTATÍSTICA (MÉTODOS), ANORMALIDADES CARDIOVASCULARES, ANORMALIDADES CRANIOFACIAIS
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ABNT
YAMAMOTO, Guilherme Lopes et al. Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. Journal of Medical Genetics, v. 52, n. 6, p. 413-421, 2015Tradução . . Disponível em: https://doi.org/10.1136/jmedgenet-2015-103018. Acesso em: 02 nov. 2024.
APA
Yamamoto, G. L., Aguena, M., Gos, M., Hung, C., Pilch, J., Fahiminiya, S., et al. (2015). Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. Journal of Medical Genetics, 52( 6), 413-421. doi:10.1136/jmedgenet-2015-103018
NLM
Yamamoto GL, Aguena M, Gos M, Hung C, Pilch J, Fahiminiya S, Abramowicz A, Cristian I, Buscarilli M, Naslavsky M, Malaquias AC, Zatz M, Bodamer O, Majewski J, Jorge AAL, Pereira AC, Kim CA, Passos-Bueno MR, Bertola DR. Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome [Internet]. Journal of Medical Genetics. 2015 ; 52( 6): 413-421.[citado 2024 nov. 02 ] Available from: https://doi.org/10.1136/jmedgenet-2015-103018
Vancouver
Yamamoto GL, Aguena M, Gos M, Hung C, Pilch J, Fahiminiya S, Abramowicz A, Cristian I, Buscarilli M, Naslavsky M, Malaquias AC, Zatz M, Bodamer O, Majewski J, Jorge AAL, Pereira AC, Kim CA, Passos-Bueno MR, Bertola DR. Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome [Internet]. Journal of Medical Genetics. 2015 ; 52( 6): 413-421.[citado 2024 nov. 02 ] Available from: https://doi.org/10.1136/jmedgenet-2015-103018
Artigo de periodico
Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect (2015)
Tavares, Vanessa Luiza Romanelli ; Gordon, Christopher T; Zechi-Ceide, Roseli Maria ; Nakata, Nancy Mizue Kokitsu ; Voisin, Norine; Tan, Tiong Y; Heggie, Andrew A; Pittoli, Siulan Vendramini Paulovich ; Propst, Evan J; Papsin, Blake C; Torres, Tatiana Teixeira ; Buermans, Henk; Capelo, Luciane Portas; Den Dunnen, Johan T; Guion-Almeida, Maria Leine; Lyonnet, Stanislas; Amiel, Jeanne; Passos-Bueno, Maria Rita
Source: European Journal of Human Genetics. Unidades: HRAC, IB
Subjects: ANORMALIDADES CRANIOFACIAIS, DOENÇAS GENÉTICAS, GENES
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ABNT
TAVARES, Vanessa Luiza Romanelli et al. Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect. European Journal of Human Genetics, v. 23, n. 4, p. 481-485, 2015Tradução . . Disponível em: https://doi.org/10.1038/ejhg.2014.132. Acesso em: 02 nov. 2024.
APA
Tavares, V. L. R., Gordon, C. T., Zechi-Ceide, R. M., Nakata, N. M. K., Voisin, N., Tan, T. Y., et al. (2015). Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect. European Journal of Human Genetics, 23( 4), 481-485. doi:10.1038/ejhg.2014.132
NLM
Tavares VLR, Gordon CT, Zechi-Ceide RM, Nakata NMK, Voisin N, Tan TY, Heggie AA, Pittoli SVP, Propst EJ, Papsin BC, Torres TT, Buermans H, Capelo LP, Den Dunnen JT, Guion-Almeida ML, Lyonnet S, Amiel J, Passos-Bueno MR. Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect [Internet]. European Journal of Human Genetics. 2015 ; 23( 4): 481-485.[citado 2024 nov. 02 ] Available from: https://doi.org/10.1038/ejhg.2014.132
Vancouver
Tavares VLR, Gordon CT, Zechi-Ceide RM, Nakata NMK, Voisin N, Tan TY, Heggie AA, Pittoli SVP, Propst EJ, Papsin BC, Torres TT, Buermans H, Capelo LP, Den Dunnen JT, Guion-Almeida ML, Lyonnet S, Amiel J, Passos-Bueno MR. Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect [Internet]. European Journal of Human Genetics. 2015 ; 23( 4): 481-485.[citado 2024 nov. 02 ] Available from: https://doi.org/10.1038/ejhg.2014.132
Artigo de periodico
High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation (2008)
Jehee, Fernanda Sarquis; Krepischi, Ana Cristina Victorino ; Rocha, K. M.; Cavalcanti, D. P.; Kim, C. A.; Bertola, Débora Romeo; Alonso, Luís Garcia; D'Angelo, C. S.; Mazzeu, Juliana Forte; Froyen, Guy; Lugtenberg, D.; Vianna-Morgante, Angela M ; Rosenberg, Carla ; Passos-Bueno, Maria Rita
Source: Journal of Medical Genetics. Unidade: IB
Subjects: CRANIOSSINOSTOSE, ANORMALIDADES CRANIOFACIAIS
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ABNT
JEHEE, Fernanda Sarquis et al. High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation. Journal of Medical Genetics, v. 45, n. 7, p. 447-450, 2008Tradução . . Disponível em: https://doi.org/10.1136/jmg.2007.057042. Acesso em: 02 nov. 2024.
APA
Jehee, F. S., Krepischi, A. C. V., Rocha, K. M., Cavalcanti, D. P., Kim, C. A., Bertola, D. R., et al. (2008). High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation. Journal of Medical Genetics, 45( 7), 447-450. doi:10.1136/jmg.2007.057042
NLM
Jehee FS, Krepischi ACV, Rocha KM, Cavalcanti DP, Kim CA, Bertola DR, Alonso LG, D'Angelo CS, Mazzeu JF, Froyen G, Lugtenberg D, Vianna-Morgante AM, Rosenberg C, Passos-Bueno MR. High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation [Internet]. Journal of Medical Genetics. 2008 ; 45( 7): 447-450.[citado 2024 nov. 02 ] Available from: https://doi.org/10.1136/jmg.2007.057042
Vancouver
Jehee FS, Krepischi ACV, Rocha KM, Cavalcanti DP, Kim CA, Bertola DR, Alonso LG, D'Angelo CS, Mazzeu JF, Froyen G, Lugtenberg D, Vianna-Morgante AM, Rosenberg C, Passos-Bueno MR. High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation [Internet]. Journal of Medical Genetics. 2008 ; 45( 7): 447-450.[citado 2024 nov. 02 ] Available from: https://doi.org/10.1136/jmg.2007.057042
Artigo de periodico
A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate (2006)
Guion-Almeida, Maria Leine; Ceide, Roseli Maria Zechi; Vendramini, Siulan; Tabith Junior, Alfredo
Source: Clinical Dysmorphology. Unidade: HRAC
Subjects: ANORMALIDADES CRANIOFACIAIS, FISSURA PALATINA
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ABNT
GUION-ALMEIDA, Maria Leine et al. A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate. Clinical Dysmorphology, v. 15, n. 3, p. 171-174, 2006Tradução . . Disponível em: https://doi.org/10.1097/01.mcd.0000220603.09661.7e. Acesso em: 02 nov. 2024.
APA
Guion-Almeida, M. L., Ceide, R. M. Z., Vendramini, S., & Tabith Junior, A. (2006). A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate. Clinical Dysmorphology, 15( 3), 171-174. doi:10.1097/01.mcd.0000220603.09661.7e
NLM
Guion-Almeida ML, Ceide RMZ, Vendramini S, Tabith Junior A. A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate [Internet]. Clinical Dysmorphology. 2006 ; 15( 3): 171-174.[citado 2024 nov. 02 ] Available from: https://doi.org/10.1097/01.mcd.0000220603.09661.7e
Vancouver
Guion-Almeida ML, Ceide RMZ, Vendramini S, Tabith Junior A. A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate [Internet]. Clinical Dysmorphology. 2006 ; 15( 3): 171-174.[citado 2024 nov. 02 ] Available from: https://doi.org/10.1097/01.mcd.0000220603.09661.7e
Artigo de periodico
Frontonasal dysplasia, Poland anomaly and unilateral hypoplasia of lower limb: report on a male patient (2003)
Guion-Almeida, Maria Leine; Lopes, Vera Lúcia Gil da Silva
Source: Clinical Dysmorphology. Unidade: HRAC
Subjects: HIPERTELORISMO, ANORMALIDADES CRANIOFACIAIS
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ABNT
GUION-ALMEIDA, Maria Leine e LOPES, Vera Lúcia Gil da Silva. Frontonasal dysplasia, Poland anomaly and unilateral hypoplasia of lower limb: report on a male patient. Clinical Dysmorphology, v. 12, n. 4, p. 233-236, 2003Tradução . . Disponível em: https://doi.org/10.1097/00019605-200310000-00004. Acesso em: 02 nov. 2024.
APA
Guion-Almeida, M. L., & Lopes, V. L. G. da S. (2003). Frontonasal dysplasia, Poland anomaly and unilateral hypoplasia of lower limb: report on a male patient. Clinical Dysmorphology, 12( 4), 233-236. doi:10.1097/00019605-200310000-00004
NLM
Guion-Almeida ML, Lopes VLG da S. Frontonasal dysplasia, Poland anomaly and unilateral hypoplasia of lower limb: report on a male patient [Internet]. Clinical Dysmorphology. 2003 ; 12( 4): 233-236.[citado 2024 nov. 02 ] Available from: https://doi.org/10.1097/00019605-200310000-00004
Vancouver
Guion-Almeida ML, Lopes VLG da S. Frontonasal dysplasia, Poland anomaly and unilateral hypoplasia of lower limb: report on a male patient [Internet]. Clinical Dysmorphology. 2003 ; 12( 4): 233-236.[citado 2024 nov. 02 ] Available from: https://doi.org/10.1097/00019605-200310000-00004

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