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Artigo de periodico
Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases (2022)
Vegas, Nancy ; Demir, Zeynep; Gordon, Christopher T.; Breton, Sylvain; Tavares, Vanessa Luiza Romanelli ; Moisset, Hugo; Zechi-Ceide, Roseli Maria ; Kokitsu-Nakata, Nancy M.; Kido, Yasuhiro; Marlin, Sandrine; Halem, Souad Gherbi; Meerschaut, Ilse; Callewaert, Bert; Chung, Brian ; Revencu, Nicole; Lehalle, Daphné; Petit, Florence ; Propst, Evan J.; Papsin, Blake C.; Phillips, John H.; Jakobsen, Linda; Tanno, Pauline Le; Thévenon, Julien; McGaughran, Julie; Gerkes, Erica H.; Leoni, Chiara; Kroisel, Peter; Tan, Tiong Y.; Henderson, Alex; Terhal, Paulien; Basel-Salmon, Lina; Alkindy, Adila; White, Susan M.; Passos-Bueno, Maria Rita ; Pingault, Véronique; Pontual, Loïc De; Amiel, Jeanne
Fonte: Human Mutation. Unidades: HRACF, HRAC, IB
Assuntos: DOENÇAS MUSCULOSQUELÉTICAS, ANORMALIDADES CRANIOFACIAIS, GENÉTICA
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ABNT
VEGAS, Nancy et al. Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases. Human Mutation, v. 43, n. 5, p. 582-594, 2022Tradução . . Disponível em: https://doi.org/10.1002/humu.24349. Acesso em: 16 maio 2024.
APA
Vegas, N., Demir, Z., Gordon, C. T., Breton, S., Tavares, V. L. R., Moisset, H., et al. (2022). Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases. Human Mutation, 43( 5), 582-594. doi:10.1002/humu.24349
NLM
Vegas N, Demir Z, Gordon CT, Breton S, Tavares VLR, Moisset H, Zechi-Ceide RM, Kokitsu-Nakata NM, Kido Y, Marlin S, Halem SG, Meerschaut I, Callewaert B, Chung B, Revencu N, Lehalle D, Petit F, Propst EJ, Papsin BC, Phillips JH, Jakobsen L, Tanno PL, Thévenon J, McGaughran J, Gerkes EH, Leoni C, Kroisel P, Tan TY, Henderson A, Terhal P, Basel-Salmon L, Alkindy A, White SM, Passos-Bueno MR, Pingault V, Pontual LD, Amiel J. Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases [Internet]. Human Mutation. 2022 ; 43( 5): 582-594.[citado 2024 maio 16 ] Available from: https://doi.org/10.1002/humu.24349
Vancouver
Vegas N, Demir Z, Gordon CT, Breton S, Tavares VLR, Moisset H, Zechi-Ceide RM, Kokitsu-Nakata NM, Kido Y, Marlin S, Halem SG, Meerschaut I, Callewaert B, Chung B, Revencu N, Lehalle D, Petit F, Propst EJ, Papsin BC, Phillips JH, Jakobsen L, Tanno PL, Thévenon J, McGaughran J, Gerkes EH, Leoni C, Kroisel P, Tan TY, Henderson A, Terhal P, Basel-Salmon L, Alkindy A, White SM, Passos-Bueno MR, Pingault V, Pontual LD, Amiel J. Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases [Internet]. Human Mutation. 2022 ; 43( 5): 582-594.[citado 2024 maio 16 ] Available from: https://doi.org/10.1002/humu.24349
Artigo de periodico
Complexity of the 5′ Untranslated Region of EIF4A3, a Critical Factor for Craniofacial and Neural Development (2018)
Hsia, Gabriella S. P; Musso, Camila M; Alvizi, Lucas; Brito, Luciano A; Kobayashi, Gerson S; Pavanello, Rita C M; Zatz, Mayana ; Gardham, Alice; Wakeling, Emma; Zechi-Ceide, Roseli M; Bertola, Débora; Passos-Bueno, Maria Rita
Fonte: Frontiers in Genetics. Unidades: IB, HRAC
Assuntos: DISOSTOSE CRÂNIOFACIAL, DOENÇAS GENÉTICAS, CROMOSSOMOS, METILAÇÃO DE DNA, MALFORMAÇÕES, ANORMALIDADES CRANIOFACIAIS, GENÉTICA MÉDICA
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ABNT
HSIA, Gabriella S. P et al. Complexity of the 5′ Untranslated Region of EIF4A3, a Critical Factor for Craniofacial and Neural Development. Frontiers in Genetics, v. 9, p. 1-8, 2018Tradução . . Disponível em: https://doi.org/10.3389/fgene.2018.00149. Acesso em: 16 maio 2024.
APA
Hsia, G. S. P., Musso, C. M., Alvizi, L., Brito, L. A., Kobayashi, G. S., Pavanello, R. C. M., et al. (2018). Complexity of the 5′ Untranslated Region of EIF4A3, a Critical Factor for Craniofacial and Neural Development. Frontiers in Genetics, 9, 1-8. doi:10.3389/fgene.2018.00149
NLM
Hsia GSP, Musso CM, Alvizi L, Brito LA, Kobayashi GS, Pavanello RCM, Zatz M, Gardham A, Wakeling E, Zechi-Ceide RM, Bertola D, Passos-Bueno MR. Complexity of the 5′ Untranslated Region of EIF4A3, a Critical Factor for Craniofacial and Neural Development [Internet]. Frontiers in Genetics. 2018 ; 9 1-8.[citado 2024 maio 16 ] Available from: https://doi.org/10.3389/fgene.2018.00149
Vancouver
Hsia GSP, Musso CM, Alvizi L, Brito LA, Kobayashi GS, Pavanello RCM, Zatz M, Gardham A, Wakeling E, Zechi-Ceide RM, Bertola D, Passos-Bueno MR. Complexity of the 5′ Untranslated Region of EIF4A3, a Critical Factor for Craniofacial and Neural Development [Internet]. Frontiers in Genetics. 2018 ; 9 1-8.[citado 2024 maio 16 ] Available from: https://doi.org/10.3389/fgene.2018.00149
Artigo de periodico
EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome (2017)
Miller, Emily E; Kobayashi, Gerson S; Musso, Camila M; Allen, Miranda; Ishiy, Felipe A. A; Caires Jr, Luiz Carlos de; Goulart, Ernesto ; Griesi-Oliveira, Karina; Zechi-Ceide, Roseli Maria; Richieri-Costa, Antonio; Bertola, Débora Romeo; Passos-Bueno, Maria Rita ; Silver, Debra L
Fonte: Human Molecular Genetics. Unidades: HRAC, IB
Assuntos: ANORMALIDADES CRANIOFACIAIS, MUTAÇÃO GENÉTICA, MODELOS ANIMAIS, MALFORMAÇÕES, DISOSTOSE MANDIBULOFACIAL
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ABNT
MILLER, Emily E et al. EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome. Human Molecular Genetics, v. 26, n. 12, p. 2177-2191, 2017Tradução . . Disponível em: https://doi.org/10.1093/hmg/ddx078. Acesso em: 16 maio 2024.
APA
Miller, E. E., Kobayashi, G. S., Musso, C. M., Allen, M., Ishiy, F. A. A., Caires Jr, L. C. de, et al. (2017). EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome. Human Molecular Genetics, 26( 12), 2177-2191. doi:10.1093/hmg/ddx078
NLM
Miller EE, Kobayashi GS, Musso CM, Allen M, Ishiy FAA, Caires Jr LC de, Goulart E, Griesi-Oliveira K, Zechi-Ceide RM, Richieri-Costa A, Bertola DR, Passos-Bueno MR, Silver DL. EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome [Internet]. Human Molecular Genetics. 2017 ; 26( 12): 2177-2191.[citado 2024 maio 16 ] Available from: https://doi.org/10.1093/hmg/ddx078
Vancouver
Miller EE, Kobayashi GS, Musso CM, Allen M, Ishiy FAA, Caires Jr LC de, Goulart E, Griesi-Oliveira K, Zechi-Ceide RM, Richieri-Costa A, Bertola DR, Passos-Bueno MR, Silver DL. EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome [Internet]. Human Molecular Genetics. 2017 ; 26( 12): 2177-2191.[citado 2024 maio 16 ] Available from: https://doi.org/10.1093/hmg/ddx078
Artigo de periodico
Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome (2017)
Romanelli Tavares, Vanessa L.; Zechi-Ceide, Roseli M.; Bertola, Debora R.; Gordon, Christopher T.; Ferreira, Simone G.; Hsia, Gabriella S. P.; Yamamoto, Guilherme L.; Ezquina, Suzana A. M.; Kokitsu-Nakata, Nancy M.; Vendramini-Pittoli, Siulan; Freitas, Renato S.; Souza, Josiane; Raposo-Amaral, Cesar A.; Zatz, Mayana ; Amiel, Jeanne; Guion-Almeida, Maria L.; Passos-Bueno, Maria Rita
Fonte: American Journal of Medical Genetics Part A. Unidades: HRAC, IB
Assuntos: ANORMALIDADES CRANIOFACIAIS, MALFORMAÇÕES, DOENÇAS GENÉTICAS, FENÓTIPOS, VARIAÇÃO GENÉTICA
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ABNT
ROMANELLI TAVARES, Vanessa L. et al. Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome. American Journal of Medical Genetics Part A, v. 173, n. 4, p. 938-945, 2017Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.38101. Acesso em: 16 maio 2024.
APA
Romanelli Tavares, V. L., Zechi-Ceide, R. M., Bertola, D. R., Gordon, C. T., Ferreira, S. G., Hsia, G. S. P., et al. (2017). Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome. American Journal of Medical Genetics Part A, 173( 4), 938-945. doi:10.1002/ajmg.a.38101
NLM
Romanelli Tavares VL, Zechi-Ceide RM, Bertola DR, Gordon CT, Ferreira SG, Hsia GSP, Yamamoto GL, Ezquina SAM, Kokitsu-Nakata NM, Vendramini-Pittoli S, Freitas RS, Souza J, Raposo-Amaral CA, Zatz M, Amiel J, Guion-Almeida ML, Passos-Bueno MR. Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome [Internet]. American Journal of Medical Genetics Part A. 2017 ;173( 4): 938-945.[citado 2024 maio 16 ] Available from: https://doi.org/10.1002/ajmg.a.38101
Vancouver
Romanelli Tavares VL, Zechi-Ceide RM, Bertola DR, Gordon CT, Ferreira SG, Hsia GSP, Yamamoto GL, Ezquina SAM, Kokitsu-Nakata NM, Vendramini-Pittoli S, Freitas RS, Souza J, Raposo-Amaral CA, Zatz M, Amiel J, Guion-Almeida ML, Passos-Bueno MR. Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome [Internet]. American Journal of Medical Genetics Part A. 2017 ;173( 4): 938-945.[citado 2024 maio 16 ] Available from: https://doi.org/10.1002/ajmg.a.38101
Artigo de periodico
A review of craniofacial disorders caused by spliceosomal defects (2015)
Lehallea, D.; Wieczorek, D.; Zechi-Ceide, Roseli Maria; Passos-Bueno, Maria Rita ; Lyonnet, S.; Amie, J.; Gordon, C.T.
Fonte: Clinical Genetics. Unidades: HRAC, IB
Assuntos: ANOMALIA CRANIOFACIAL, MALFORMAÇÕES
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ABNT
LEHALLEA, D. et al. A review of craniofacial disorders caused by spliceosomal defects. Clinical Genetics, p. on-line, 2015Tradução . . Disponível em: https://doi.org/10.1111/cge.12596. Acesso em: 16 maio 2024.
APA
Lehallea, D., Wieczorek, D., Zechi-Ceide, R. M., Passos-Bueno, M. R., Lyonnet, S., Amie, J., & Gordon, C. T. (2015). A review of craniofacial disorders caused by spliceosomal defects. Clinical Genetics, on-line. doi:10.1111/cge.12596
NLM
Lehallea D, Wieczorek D, Zechi-Ceide RM, Passos-Bueno MR, Lyonnet S, Amie J, Gordon CT. A review of craniofacial disorders caused by spliceosomal defects [Internet]. Clinical Genetics. 2015 ; on-line.[citado 2024 maio 16 ] Available from: https://doi.org/10.1111/cge.12596
Vancouver
Lehallea D, Wieczorek D, Zechi-Ceide RM, Passos-Bueno MR, Lyonnet S, Amie J, Gordon CT. A review of craniofacial disorders caused by spliceosomal defects [Internet]. Clinical Genetics. 2015 ; on-line.[citado 2024 maio 16 ] Available from: https://doi.org/10.1111/cge.12596
Artigo de periodico
A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects (2014)
Favaro, Francine Pinheiro; Alvizi, Lucas ; Zechi-Ceide, Roseli Maria; Bertola, Débora Romeo; Félix, Têmis Maria ; Souza, Josiane de; Raskin, Salmo; Twigg, Stephen R. F; Weiner, Andrea M. J; Armas, Pablo; Margarit, Ezequiel; Calcaterra, Nora B; Andersen, Gregers R; McGowan, Simon J; Wilkie, Andrew O. M; Richieri-Costa, Antonio; Almeida, Maria Leine Guion de; Passos-Bueno, Maria Rita
Fonte: American Journal of Human Genetics. Unidades: HRAC, IB, HRACF
Assuntos: ANORMALIDADES CRANIOFACIAIS, MUTAÇÃO GENÉTICA, MALFORMAÇÕES, FISSURA PALATINA, MODELOS ANIMAIS, GENOMAS
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ABNT
FAVARO, Francine Pinheiro et al. A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects. American Journal of Human Genetics, v. 94, n. Ja 2014, p. 120-128, 2014Tradução . . Acesso em: 16 maio 2024.
APA
Favaro, F. P., Alvizi, L., Zechi-Ceide, R. M., Bertola, D. R., Félix, T. M., Souza, J. de, et al. (2014). A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects. American Journal of Human Genetics, 94( Ja 2014), 120-128.
NLM
Favaro FP, Alvizi L, Zechi-Ceide RM, Bertola DR, Félix TM, Souza J de, Raskin S, Twigg SRF, Weiner AMJ, Armas P, Margarit E, Calcaterra NB, Andersen GR, McGowan SJ, Wilkie AOM, Richieri-Costa A, Almeida MLG de, Passos-Bueno MR. A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects. American Journal of Human Genetics. 2014 ; 94( Ja 2014): 120-128.[citado 2024 maio 16 ]
Vancouver
Favaro FP, Alvizi L, Zechi-Ceide RM, Bertola DR, Félix TM, Souza J de, Raskin S, Twigg SRF, Weiner AMJ, Armas P, Margarit E, Calcaterra NB, Andersen GR, McGowan SJ, Wilkie AOM, Richieri-Costa A, Almeida MLG de, Passos-Bueno MR. A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects. American Journal of Human Genetics. 2014 ; 94( Ja 2014): 120-128.[citado 2024 maio 16 ]
Artigo de periodico
Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes (2013)
Twigg, Stephen R. F.; Babbs, Christian; Elzen, Marijke E. P. van den; Goriely, Anne; Taylor, Stephen; McGowan, Simon J.; Giannoulatou, Eleni; Lonie, Lorne; Ragoussis, Jiannis; Akha, Elham Sadighi; Knight, Samantha J. L.; Zechi-Ceide, Roseli Maria ; Hoogeboom, Jeannette A. M.; Pober, Barbara R.; Toriello, Helga V.; Wall, Steven A.; Passos-Bueno, Maria Rita ; Brunner, Han G.; Mathijssen, Irene M. J.; Wilkie, Andrew O. M.
Fonte: Human Molecular Genetics. Unidades: HRAC, IB
Assuntos: GENÉTICA, ANORMALIDADES MÚLTIPLAS, MUTAÇÃO
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ABNT
TWIGG, Stephen R. F. et al. Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes. Human Molecular Genetics, v. 22, n. 8, p. 1654-1662, 2013Tradução . . Disponível em: https://doi.org/10.1093/hmg/ddt015. Acesso em: 16 maio 2024.
APA
Twigg, S. R. F., Babbs, C., Elzen, M. E. P. van den, Goriely, A., Taylor, S., McGowan, S. J., et al. (2013). Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes. Human Molecular Genetics, 22( 8), 1654-1662. doi:10.1093/hmg/ddt015
NLM
Twigg SRF, Babbs C, Elzen MEP van den, Goriely A, Taylor S, McGowan SJ, Giannoulatou E, Lonie L, Ragoussis J, Akha ES, Knight SJL, Zechi-Ceide RM, Hoogeboom JAM, Pober BR, Toriello HV, Wall SA, Passos-Bueno MR, Brunner HG, Mathijssen IMJ, Wilkie AOM. Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes [Internet]. Human Molecular Genetics. 2013 ; 22( 8): 1654-1662.[citado 2024 maio 16 ] Available from: https://doi.org/10.1093/hmg/ddt015
Vancouver
Twigg SRF, Babbs C, Elzen MEP van den, Goriely A, Taylor S, McGowan SJ, Giannoulatou E, Lonie L, Ragoussis J, Akha ES, Knight SJL, Zechi-Ceide RM, Hoogeboom JAM, Pober BR, Toriello HV, Wall SA, Passos-Bueno MR, Brunner HG, Mathijssen IMJ, Wilkie AOM. Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes [Internet]. Human Molecular Genetics. 2013 ; 22( 8): 1654-1662.[citado 2024 maio 16 ] Available from: https://doi.org/10.1093/hmg/ddt015
Artigo de periodico
Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletion (2012)
Guion-Almeida, Maria Leine; Richieri-Costa, Antonio ; Jehee, Fernanda Sarquis; Passos-Bueno, Maria Rita ; Zechi-Ceide, Roseli Maria
Fonte: American Journal of Medical Genetics Part A. Unidades: HRAC, IB
Assuntos: AGENESIA, ANORMALIDADES CRANIOFACIAIS, LÁBIO FISSURADO
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ABNT
GUION-ALMEIDA, Maria Leine et al. Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletion. American Journal of Medical Genetics Part A, v. 158A, n. 7, p. 1676-1679, 2012Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.35351. Acesso em: 16 maio 2024.
APA
Guion-Almeida, M. L., Richieri-Costa, A., Jehee, F. S., Passos-Bueno, M. R., & Zechi-Ceide, R. M. (2012). Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletion. American Journal of Medical Genetics Part A, 158A( 7), 1676-1679. doi:10.1002/ajmg.a.35351
NLM
Guion-Almeida ML, Richieri-Costa A, Jehee FS, Passos-Bueno MR, Zechi-Ceide RM. Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletion [Internet]. American Journal of Medical Genetics Part A. 2012 ; 158A( 7): 1676-1679.[citado 2024 maio 16 ] Available from: https://doi.org/10.1002/ajmg.a.35351
Vancouver
Guion-Almeida ML, Richieri-Costa A, Jehee FS, Passos-Bueno MR, Zechi-Ceide RM. Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletion [Internet]. American Journal of Medical Genetics Part A. 2012 ; 158A( 7): 1676-1679.[citado 2024 maio 16 ] Available from: https://doi.org/10.1002/ajmg.a.35351
Artigo de periodico
Auriculo-condylar syndrome: confronting a diagnostic challenge (2012)
Nakata, Nancy Mizue Kokitsu ; Zechi-Ceide, Roseli Maria ; Pittoli, Siulan Vendramini Paulovich ; Tavares, Vanessa Luiza Romanelli ; Passos-Bueno, Maria Rita ; Guion-Almeida, Maria Leine
Fonte: American Journal of Medical Genetics Part A. Unidades: IB, HRAC
Assuntos: MALFORMAÇÕES, GENÉTICA MÉDICA
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ABNT
NAKATA, Nancy Mizue Kokitsu et al. Auriculo-condylar syndrome: confronting a diagnostic challenge. American Journal of Medical Genetics Part A, v. 158 A, n. Ja 2012, p. 59-65, 2012Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.34337. Acesso em: 16 maio 2024.
APA
Nakata, N. M. K., Zechi-Ceide, R. M., Pittoli, S. V. P., Tavares, V. L. R., Passos-Bueno, M. R., & Guion-Almeida, M. L. (2012). Auriculo-condylar syndrome: confronting a diagnostic challenge. American Journal of Medical Genetics Part A, 158 A( Ja 2012), 59-65. doi:10.1002/ajmg.a.34337
NLM
Nakata NMK, Zechi-Ceide RM, Pittoli SVP, Tavares VLR, Passos-Bueno MR, Guion-Almeida ML. Auriculo-condylar syndrome: confronting a diagnostic challenge [Internet]. American Journal of Medical Genetics Part A. 2012 ; 158 A( Ja 2012): 59-65.[citado 2024 maio 16 ] Available from: https://doi.org/10.1002/ajmg.a.34337
Vancouver
Nakata NMK, Zechi-Ceide RM, Pittoli SVP, Tavares VLR, Passos-Bueno MR, Guion-Almeida ML. Auriculo-condylar syndrome: confronting a diagnostic challenge [Internet]. American Journal of Medical Genetics Part A. 2012 ; 158 A( Ja 2012): 59-65.[citado 2024 maio 16 ] Available from: https://doi.org/10.1002/ajmg.a.34337
Artigo de periodico
Saethre–Chotzen phenotype with learning disability and hyper IgE phenotype in a patient due to complex chromosomal rearrangement involving chromosomes 3 and 7 (2012)
Zechi-Ceide, Roseli Maria ; Rodrigues, Melina Guerreiro; Jehee, Fernanda Sarquis; Nakata, Nancy Mizue Kokitsu ; Passos-Bueno, Maria Rita ; Guion Almeida, Maria Leine
Fonte: American Journal of Medical Genetics Part A. Unidades: HRAC, IB
Assuntos: CROMOSSOMOS, GENÉTICA MÉDICA, GENES
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ABNT
ZECHI-CEIDE, Roseli Maria et al. Saethre–Chotzen phenotype with learning disability and hyper IgE phenotype in a patient due to complex chromosomal rearrangement involving chromosomes 3 and 7. American Journal of Medical Genetics Part A, v. 158A, n. 7, p. 1680\20131685, 2012Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.35367. Acesso em: 16 maio 2024.
APA
Zechi-Ceide, R. M., Rodrigues, M. G., Jehee, F. S., Nakata, N. M. K., Passos-Bueno, M. R., & Guion Almeida, M. L. (2012). Saethre–Chotzen phenotype with learning disability and hyper IgE phenotype in a patient due to complex chromosomal rearrangement involving chromosomes 3 and 7. American Journal of Medical Genetics Part A, 158A( 7), 1680\20131685. doi:10.1002/ajmg.a.35367
NLM
Zechi-Ceide RM, Rodrigues MG, Jehee FS, Nakata NMK, Passos-Bueno MR, Guion Almeida ML. Saethre–Chotzen phenotype with learning disability and hyper IgE phenotype in a patient due to complex chromosomal rearrangement involving chromosomes 3 and 7 [Internet]. American Journal of Medical Genetics Part A. 2012 ; 158A( 7): 1680\20131685.[citado 2024 maio 16 ] Available from: https://doi.org/10.1002/ajmg.a.35367
Vancouver
Zechi-Ceide RM, Rodrigues MG, Jehee FS, Nakata NMK, Passos-Bueno MR, Guion Almeida ML. Saethre–Chotzen phenotype with learning disability and hyper IgE phenotype in a patient due to complex chromosomal rearrangement involving chromosomes 3 and 7 [Internet]. American Journal of Medical Genetics Part A. 2012 ; 158A( 7): 1680\20131685.[citado 2024 maio 16 ] Available from: https://doi.org/10.1002/ajmg.a.35367
Artigo de periodico
Mandibulofacial dysostosis, severe lower eyelid coloboma, cleft palate, and alopecia: a new distinct form of mandibulofacial dysostosis or a severe form of Johnson-McMillin syndrome? (2010)
Ceide, Roseli Maria Zechi; Guion-Almeida, Maria Leine; Jehee, Fernanda Sarquis; Rocha, Kátia Maria da; Passos-Bueno, Maria Rita
Fonte: American Journal of Medical Genetics, Part A. Unidades: HRAC, IB
Assuntos: DISOSTOSE MANDIBULOFACIAL, PÁLPEBRAS (ANORMALIDADES), FISSURA PALATINA, ALOPECIA
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ABNT
CEIDE, Roseli Maria Zechi et al. Mandibulofacial dysostosis, severe lower eyelid coloboma, cleft palate, and alopecia: a new distinct form of mandibulofacial dysostosis or a severe form of Johnson-McMillin syndrome?. American Journal of Medical Genetics, Part A, v. 152A, n. 7, p. 1838-1840, 2010Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.33477. Acesso em: 16 maio 2024.
APA
Ceide, R. M. Z., Guion-Almeida, M. L., Jehee, F. S., Rocha, K. M. da, & Passos-Bueno, M. R. (2010). Mandibulofacial dysostosis, severe lower eyelid coloboma, cleft palate, and alopecia: a new distinct form of mandibulofacial dysostosis or a severe form of Johnson-McMillin syndrome? American Journal of Medical Genetics, Part A, 152A( 7), 1838-1840. doi:10.1002/ajmg.a.33477
NLM
Ceide RMZ, Guion-Almeida ML, Jehee FS, Rocha KM da, Passos-Bueno MR. Mandibulofacial dysostosis, severe lower eyelid coloboma, cleft palate, and alopecia: a new distinct form of mandibulofacial dysostosis or a severe form of Johnson-McMillin syndrome? [Internet]. American Journal of Medical Genetics, Part A. 2010 ; 152A( 7): 1838-1840.[citado 2024 maio 16 ] Available from: https://doi.org/10.1002/ajmg.a.33477
Vancouver
Ceide RMZ, Guion-Almeida ML, Jehee FS, Rocha KM da, Passos-Bueno MR. Mandibulofacial dysostosis, severe lower eyelid coloboma, cleft palate, and alopecia: a new distinct form of mandibulofacial dysostosis or a severe form of Johnson-McMillin syndrome? [Internet]. American Journal of Medical Genetics, Part A. 2010 ; 152A( 7): 1838-1840.[citado 2024 maio 16 ] Available from: https://doi.org/10.1002/ajmg.a.33477
Artigo de periodico
Novel mutations in IRF6 in nonsyndromic cleft lip with or without cleft palate: when should IRF6 mutational screening be done? (2009)
Jehee, Fernanda Sarquis; Burin, Beatriz A.; Rocha, Kátia Maria da; Zechi-Ceide, Roseli Maria; Bueno, Daniela F.; Brito, Luciano; Souza, Josiane; Leal, Gabriela Ferraz; Richieri-Costa, Antonio; Alonso, Nivaldo; Otto, Paulo A ; Passos-Bueno, Maria Rita
Fonte: American Journal of Medical Genetics. Part A. Unidades: HRAC, IB
Assuntos: MALFORMAÇÕES, LÁBIO FISSURADO, PALATO
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
JEHEE, Fernanda Sarquis et al. Novel mutations in IRF6 in nonsyndromic cleft lip with or without cleft palate: when should IRF6 mutational screening be done?. American Journal of Medical Genetics. Part A, v. 149A, n. 6, p. 1319-1322, 2009Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.32849. Acesso em: 16 maio 2024.
APA
Jehee, F. S., Burin, B. A., Rocha, K. M. da, Zechi-Ceide, R. M., Bueno, D. F., Brito, L., et al. (2009). Novel mutations in IRF6 in nonsyndromic cleft lip with or without cleft palate: when should IRF6 mutational screening be done? American Journal of Medical Genetics. Part A, 149A( 6), 1319-1322. doi:10.1002/ajmg.a.32849
NLM
Jehee FS, Burin BA, Rocha KM da, Zechi-Ceide RM, Bueno DF, Brito L, Souza J, Leal GF, Richieri-Costa A, Alonso N, Otto PA, Passos-Bueno MR. Novel mutations in IRF6 in nonsyndromic cleft lip with or without cleft palate: when should IRF6 mutational screening be done? [Internet]. American Journal of Medical Genetics. Part A. 2009 ; 149A( 6): 1319-1322.[citado 2024 maio 16 ] Available from: https://doi.org/10.1002/ajmg.a.32849
Vancouver
Jehee FS, Burin BA, Rocha KM da, Zechi-Ceide RM, Bueno DF, Brito L, Souza J, Leal GF, Richieri-Costa A, Alonso N, Otto PA, Passos-Bueno MR. Novel mutations in IRF6 in nonsyndromic cleft lip with or without cleft palate: when should IRF6 mutational screening be done? [Internet]. American Journal of Medical Genetics. Part A. 2009 ; 149A( 6): 1319-1322.[citado 2024 maio 16 ] Available from: https://doi.org/10.1002/ajmg.a.32849
Artigo de periodico
Mandibulofacial syndrome with growth amd mental retardation, microcephaly, ear anomalies with skin tags, and cleft palate in a mother and her son: autosomal dominant or X-linked syndrome? (2009)
Guion-Almeida, Maria Leine; Vendramini-Pittoli, Siulan; Passos-Bueno, Maria Rita ; Zechi-Ceide, Roseli Maria
Fonte: American Journal of Medical Genetics. Part A. Unidades: HRAC, IB
Assunto: ANOMALIA CRANIOFACIAL
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
GUION-ALMEIDA, Maria Leine et al. Mandibulofacial syndrome with growth amd mental retardation, microcephaly, ear anomalies with skin tags, and cleft palate in a mother and her son: autosomal dominant or X-linked syndrome?. American Journal of Medical Genetics. Part A, v. 149A, p. 2762-2764, 2009Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.32816. Acesso em: 16 maio 2024.
APA
Guion-Almeida, M. L., Vendramini-Pittoli, S., Passos-Bueno, M. R., & Zechi-Ceide, R. M. (2009). Mandibulofacial syndrome with growth amd mental retardation, microcephaly, ear anomalies with skin tags, and cleft palate in a mother and her son: autosomal dominant or X-linked syndrome? American Journal of Medical Genetics. Part A, 149A, 2762-2764. doi:10.1002/ajmg.a.32816
NLM
Guion-Almeida ML, Vendramini-Pittoli S, Passos-Bueno MR, Zechi-Ceide RM. Mandibulofacial syndrome with growth amd mental retardation, microcephaly, ear anomalies with skin tags, and cleft palate in a mother and her son: autosomal dominant or X-linked syndrome? [Internet]. American Journal of Medical Genetics. Part A. 2009 ; 149A 2762-2764.[citado 2024 maio 16 ] Available from: https://doi.org/10.1002/ajmg.a.32816
Vancouver
Guion-Almeida ML, Vendramini-Pittoli S, Passos-Bueno MR, Zechi-Ceide RM. Mandibulofacial syndrome with growth amd mental retardation, microcephaly, ear anomalies with skin tags, and cleft palate in a mother and her son: autosomal dominant or X-linked syndrome? [Internet]. American Journal of Medical Genetics. Part A. 2009 ; 149A 2762-2764.[citado 2024 maio 16 ] Available from: https://doi.org/10.1002/ajmg.a.32816
Artigo de periodico
Unusual phenotype in a female patient with a Gly25Ala substitution in the signal peptide region of the COL2A1 gene (2008)
Ceide, Roseli Maria Zechi; Oliveira, Nélio Alessandro de Jesus; Guion-Almeida, Maria Leine; Antunes, Luis Fernando Benedito Bergami; Richieri-Costa, Antonio; Passos-Bueno, Maria Rita
Fonte: Clinical Dysmorphology. Unidades: HRAC, IB
Assuntos: ANORMALIDADES MÚLTIPLAS, FENÓTIPOS, GENES
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
CEIDE, Roseli Maria Zechi et al. Unusual phenotype in a female patient with a Gly25Ala substitution in the signal peptide region of the COL2A1 gene. Clinical Dysmorphology, v. 17, n. 3, p. 225-226, 2008Tradução . . Disponível em: https://doi.org/10.1097/mcd.0b013e3282fe1b8e. Acesso em: 16 maio 2024.
APA
Ceide, R. M. Z., Oliveira, N. A. de J., Guion-Almeida, M. L., Antunes, L. F. B. B., Richieri-Costa, A., & Passos-Bueno, M. R. (2008). Unusual phenotype in a female patient with a Gly25Ala substitution in the signal peptide region of the COL2A1 gene. Clinical Dysmorphology, 17( 3), 225-226. doi:10.1097/mcd.0b013e3282fe1b8e
NLM
Ceide RMZ, Oliveira NA de J, Guion-Almeida ML, Antunes LFBB, Richieri-Costa A, Passos-Bueno MR. Unusual phenotype in a female patient with a Gly25Ala substitution in the signal peptide region of the COL2A1 gene [Internet]. Clinical Dysmorphology. 2008 ; 17( 3): 225-226.[citado 2024 maio 16 ] Available from: https://doi.org/10.1097/mcd.0b013e3282fe1b8e
Vancouver
Ceide RMZ, Oliveira NA de J, Guion-Almeida ML, Antunes LFBB, Richieri-Costa A, Passos-Bueno MR. Unusual phenotype in a female patient with a Gly25Ala substitution in the signal peptide region of the COL2A1 gene [Internet]. Clinical Dysmorphology. 2008 ; 17( 3): 225-226.[citado 2024 maio 16 ] Available from: https://doi.org/10.1097/mcd.0b013e3282fe1b8e
Artigo de periodico
Hydrocephalus and moderate mental retardation in a boy with Van der Woude phenotype and IRF6 gene mutation (2007)
Ceide, Roseli Maria Zechi; Guion-Almeida, Maria Leine; Rodini, Elaine Sbroggio de Oliveira; Oliveira, Nélio Alessandro de Jesus; Passos-Bueno, Maria Rita
Fonte: Clinical Dysmorphology. Unidades: HRAC, IB
Assuntos: MUTAÇÃO GENÉTICA, RETARDO MENTAL, ANORMALIDADES CRANIOFACIAIS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
CEIDE, Roseli Maria Zechi et al. Hydrocephalus and moderate mental retardation in a boy with Van der Woude phenotype and IRF6 gene mutation. Clinical Dysmorphology, v. 16, n. 3, p. 163-166, 2007Tradução . . Disponível em: https://doi.org/10.1097/MCD.0b013e3280739753. Acesso em: 16 maio 2024.
APA
Ceide, R. M. Z., Guion-Almeida, M. L., Rodini, E. S. de O., Oliveira, N. A. de J., & Passos-Bueno, M. R. (2007). Hydrocephalus and moderate mental retardation in a boy with Van der Woude phenotype and IRF6 gene mutation. Clinical Dysmorphology, 16( 3), 163-166. doi:10.1097/MCD.0b013e3280739753
NLM
Ceide RMZ, Guion-Almeida ML, Rodini ES de O, Oliveira NA de J, Passos-Bueno MR. Hydrocephalus and moderate mental retardation in a boy with Van der Woude phenotype and IRF6 gene mutation [Internet]. Clinical Dysmorphology. 2007 ; 16( 3): 163-166.[citado 2024 maio 16 ] Available from: https://doi.org/10.1097/MCD.0b013e3280739753
Vancouver
Ceide RMZ, Guion-Almeida ML, Rodini ES de O, Oliveira NA de J, Passos-Bueno MR. Hydrocephalus and moderate mental retardation in a boy with Van der Woude phenotype and IRF6 gene mutation [Internet]. Clinical Dysmorphology. 2007 ; 16( 3): 163-166.[citado 2024 maio 16 ] Available from: https://doi.org/10.1097/MCD.0b013e3280739753
Trabalho de evento-resumo
Auriculo-condylar syndrome: confirmation of wide intrafamilial clinical variability and mapping of the disease gene (2005)
Passos-Bueno, Maria Rita ; Poerner, F.; Masotti, C; Oliveira, K.; Zechi-Ceide, Roseli Maria; Guion-Almeida, Maria Leine; Splendore, Alessandra; Freitas, R. S.
Fonte: Poster. Nome do evento: Annual Meeting of the American Society of Human Genetics. Unidades: IB, HRAC
Assuntos: CROMOSSOMOS (ALTERAÇÃO), MALFORMAÇÕES, SÍNDROMES OROFACIODIGITAIS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
PASSOS-BUENO, Maria Rita et al. Auriculo-condylar syndrome: confirmation of wide intrafamilial clinical variability and mapping of the disease gene. 2005, Anais.. Salt Lake City: Instituto de Biociências, Universidade de São Paulo, 2005. . Acesso em: 16 maio 2024.
APA
Passos-Bueno, M. R., Poerner, F., Masotti, C., Oliveira, K., Zechi-Ceide, R. M., Guion-Almeida, M. L., et al. (2005). Auriculo-condylar syndrome: confirmation of wide intrafamilial clinical variability and mapping of the disease gene. In Poster. Salt Lake City: Instituto de Biociências, Universidade de São Paulo.
NLM
Passos-Bueno MR, Poerner F, Masotti C, Oliveira K, Zechi-Ceide RM, Guion-Almeida ML, Splendore A, Freitas RS. Auriculo-condylar syndrome: confirmation of wide intrafamilial clinical variability and mapping of the disease gene. Poster. 2005 ;[citado 2024 maio 16 ]
Vancouver
Passos-Bueno MR, Poerner F, Masotti C, Oliveira K, Zechi-Ceide RM, Guion-Almeida ML, Splendore A, Freitas RS. Auriculo-condylar syndrome: confirmation of wide intrafamilial clinical variability and mapping of the disease gene. Poster. 2005 ;[citado 2024 maio 16 ]
Artigo de periodico
Transforming growth factor-alpha and nonsyndromic cleft lip with or without palate in brazilian patients: results of a large case-control study (2004)
Passos-Bueno, Maria Rita ; Gaspar, Dinamar A.; Kamiya, Tânia Yoshico; Tescarollo, Graziela; Rabanéa, Daniel Saraiva; Richieri-Costa, Antonio; Alonso, Nivaldo; Araújo, Belmino
Fonte: The Cleft Palate-Craniofacial Journal. Unidades: IB, HRAC
Assuntos: GENES, FISSURA LÁBIOPALATINA, GENÓTIPOS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
PASSOS-BUENO, Maria Rita et al. Transforming growth factor-alpha and nonsyndromic cleft lip with or without palate in brazilian patients: results of a large case-control study. The Cleft Palate-Craniofacial Journal, v. 41, n. 4, p. 387-391, 2004Tradução . . Acesso em: 16 maio 2024.
APA
Passos-Bueno, M. R., Gaspar, D. A., Kamiya, T. Y., Tescarollo, G., Rabanéa, D. S., Richieri-Costa, A., et al. (2004). Transforming growth factor-alpha and nonsyndromic cleft lip with or without palate in brazilian patients: results of a large case-control study. The Cleft Palate-Craniofacial Journal, 41( 4), 387-391.
NLM
Passos-Bueno MR, Gaspar DA, Kamiya TY, Tescarollo G, Rabanéa DS, Richieri-Costa A, Alonso N, Araújo B. Transforming growth factor-alpha and nonsyndromic cleft lip with or without palate in brazilian patients: results of a large case-control study. The Cleft Palate-Craniofacial Journal. 2004 ; 41( 4): 387-391.[citado 2024 maio 16 ]
Vancouver
Passos-Bueno MR, Gaspar DA, Kamiya TY, Tescarollo G, Rabanéa DS, Richieri-Costa A, Alonso N, Araújo B. Transforming growth factor-alpha and nonsyndromic cleft lip with or without palate in brazilian patients: results of a large case-control study. The Cleft Palate-Craniofacial Journal. 2004 ; 41( 4): 387-391.[citado 2024 maio 16 ]
Trabalho de evento-resumo
Mutations in the IRF6 gene in two patients with popliteal pterygium syndrome (2004)
Zechi-Ceide, R. M.; Guion-Almeida, Maria Leine; Kokitsu-Nakata, N. M.; Passos-Bueno, Maria Rita
Fonte: Resumo. Nome do evento: Annual Meeting of the American Society of Human Genetics. Unidades: HRAC, IB
Assuntos: SÍNDROMES OROFACIODIGITAIS, MUTAÇÃO GENÉTICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
ZECHI-CEIDE, R. M. et al. Mutations in the IRF6 gene in two patients with popliteal pterygium syndrome. 2004, Anais.. Toronto: Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, 2004. . Acesso em: 16 maio 2024.
APA
Zechi-Ceide, R. M., Guion-Almeida, M. L., Kokitsu-Nakata, N. M., & Passos-Bueno, M. R. (2004). Mutations in the IRF6 gene in two patients with popliteal pterygium syndrome. In Resumo. Toronto: Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo.
NLM
Zechi-Ceide RM, Guion-Almeida ML, Kokitsu-Nakata NM, Passos-Bueno MR. Mutations in the IRF6 gene in two patients with popliteal pterygium syndrome. Resumo. 2004 ;[citado 2024 maio 16 ]
Vancouver
Zechi-Ceide RM, Guion-Almeida ML, Kokitsu-Nakata NM, Passos-Bueno MR. Mutations in the IRF6 gene in two patients with popliteal pterygium syndrome. Resumo. 2004 ;[citado 2024 maio 16 ]
Trabalho de evento-resumo periodico
A new form of autosomal dominant late onset spinal muscular atrophy (2001)
Bernardino, Andréa L. F.; Richieri-Costa, Antonio; Passos-Bueno, Maria Rita ; Cerqueira, A M P
Fonte: American Journal of Human Genetics. Nome do evento: Annual Meeting of the American Society of Human Genetics. Unidades: IB, HRAC
Assunto: ATROFIA MUSCULAR
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
BERNARDINO, Andréa L. F. et al. A new form of autosomal dominant late onset spinal muscular atrophy. American Journal of Human Genetics. Chicago: Instituto de Biociências, Universidade de São Paulo. . Acesso em: 16 maio 2024. , 2001
APA
Bernardino, A. L. F., Richieri-Costa, A., Passos-Bueno, M. R., & Cerqueira, A. M. P. (2001). A new form of autosomal dominant late onset spinal muscular atrophy. American Journal of Human Genetics. Chicago: Instituto de Biociências, Universidade de São Paulo.
NLM
Bernardino ALF, Richieri-Costa A, Passos-Bueno MR, Cerqueira AMP. A new form of autosomal dominant late onset spinal muscular atrophy. American Journal of Human Genetics. 2001 ; 69( 4): 524.[citado 2024 maio 16 ]
Vancouver
Bernardino ALF, Richieri-Costa A, Passos-Bueno MR, Cerqueira AMP. A new form of autosomal dominant late onset spinal muscular atrophy. American Journal of Human Genetics. 2001 ; 69( 4): 524.[citado 2024 maio 16 ]
Trabalho de evento-resumo periodico
Global analysis of gene expression in inherited human craniosinostosis (2001)
Zorick, T. S.; Fernandes, A. Y.; Turma, P.; Matsushita, Hamilton; Zanini, Silvio Antonio; Palhares, A.; Passos-Bueno, Maria Rita
Fonte: American Journal of Human Genetics. Nome do evento: Annual Meeting of the American Society of Human Genetics. Unidades: IB, HRAC
Assunto: DOENÇAS HEREDITÁRIAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
ZORICK, T. S. et al. Global analysis of gene expression in inherited human craniosinostosis. American Journal of Human Genetics. Chicago: Instituto de Biociências, Universidade de São Paulo. . Acesso em: 16 maio 2024. , 2001
APA
Zorick, T. S., Fernandes, A. Y., Turma, P., Matsushita, H., Zanini, S. A., Palhares, A., & Passos-Bueno, M. R. (2001). Global analysis of gene expression in inherited human craniosinostosis. American Journal of Human Genetics. Chicago: Instituto de Biociências, Universidade de São Paulo.
NLM
Zorick TS, Fernandes AY, Turma P, Matsushita H, Zanini SA, Palhares A, Passos-Bueno MR. Global analysis of gene expression in inherited human craniosinostosis. American Journal of Human Genetics. 2001 ; 69( 4): 454.[citado 2024 maio 16 ]
Vancouver
Zorick TS, Fernandes AY, Turma P, Matsushita H, Zanini SA, Palhares A, Passos-Bueno MR. Global analysis of gene expression in inherited human craniosinostosis. American Journal of Human Genetics. 2001 ; 69( 4): 454.[citado 2024 maio 16 ]

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