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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
In: American Journal of Medical Genetics Part A. Unidades: HRAC, IB
Subjects: Anormalidades Craniofaciais, Malformações, Doenças Genéticas, Fenótipos, Variação Genética
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
ROMANELLI TAVARES, Vanessa L.; ZECHI-CEIDE, Roseli M.; BERTOLA, Debora R.; et al. Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome. American Journal of Medical Genetics Part A, Hoboken, Wiley-Blackwell, v. 173, n. 4, p. 938-945, 2017. Disponível em: < http://dx.doi.org/10.1002/ajmg.a.38101 > DOI: 10.1002/ajmg.a.38101.
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.Available from: http://dx.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.Available from: http://dx.doi.org/10.1002/ajmg.a.38101
Artigo de periodico
The phenotypic spectrum of congenital Zika syndrome (2017)
del Campo, Miguel; Feitosa, Ian M. L.; Ribeiro, Erlane M.; Horovitz, Dafne D. G.; Pessoa, André L. S.; França, Giovanny V. A.; García-Alix, Alfredo; Doriqui, Maria J. R.; Wanderley, Hector Y. C.; Sanseverino, Maria V. T.; Neri, João I. C. F.; Pina Neto, João Monteiro de; Santos, Emerson S.; Verçosa, Islane; Cernach, Mirlene C. S. P.; Medeiros, Paula F. V.; Kerbage, Saile C.; Silva, André A.; van der Linden, Vanessa; Martelli, Celina M. T.; Cordeiro, Marli T.; Dhalia, Rafael; Vianna, Fernanda S. L.; Victora, Cesar G.; Cavalcanti, Denise P.; Schuler-Faccini, Lavinia
In: American Journal of Medical Genetics Part A. Unidade: FMRP
Subjects: Fenótipos, Zika Vírus, Microcefalia, Teratologia
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ABNT
DEL CAMPO, Miguel; FEITOSA, Ian M. L.; RIBEIRO, Erlane M.; et al. The phenotypic spectrum of congenital Zika syndrome. American Journal of Medical Genetics Part A, Hoboken, v. 173, n. 4, p. 841-857, 2017. Disponível em: < http://dx.doi.org/10.1002/ajmg.a.38170 > DOI: 10.1002/ajmg.a.38170.
APA
del Campo, M., Feitosa, I. M. L., Ribeiro, E. M., Horovitz, D. D. G., Pessoa, A. L. S., França, G. V. A., et al. (2017). The phenotypic spectrum of congenital Zika syndrome. American Journal of Medical Genetics Part A, 173( 4), 841-857. doi:10.1002/ajmg.a.38170
NLM
del Campo M, Feitosa IML, Ribeiro EM, Horovitz DDG, Pessoa ALS, França GVA, García-Alix A, Doriqui MJR, Wanderley HYC, Sanseverino MVT, Neri JICF, Pina Neto JM de, Santos ES, Verçosa I, Cernach MCSP, Medeiros PFV, Kerbage SC, Silva AA, van der Linden V, Martelli CMT, Cordeiro MT, Dhalia R, Vianna FSL, Victora CG, Cavalcanti DP, Schuler-Faccini L. The phenotypic spectrum of congenital Zika syndrome [Internet]. American Journal of Medical Genetics Part A. 2017 ; 173( 4): 841-857.Available from: http://dx.doi.org/10.1002/ajmg.a.38170
Vancouver
del Campo M, Feitosa IML, Ribeiro EM, Horovitz DDG, Pessoa ALS, França GVA, García-Alix A, Doriqui MJR, Wanderley HYC, Sanseverino MVT, Neri JICF, Pina Neto JM de, Santos ES, Verçosa I, Cernach MCSP, Medeiros PFV, Kerbage SC, Silva AA, van der Linden V, Martelli CMT, Cordeiro MT, Dhalia R, Vianna FSL, Victora CG, Cavalcanti DP, Schuler-Faccini L. The phenotypic spectrum of congenital Zika syndrome [Internet]. American Journal of Medical Genetics Part A. 2017 ; 173( 4): 841-857.Available from: http://dx.doi.org/10.1002/ajmg.a.38170
Artigo de periodico
Genotype–phenotype correlation of 16p13.3 terminal duplication and 22q13.33 deletion: natural history of a patient and review of the literature (2015)
Fontes, Marshall I. B; Santos, Ana P; Molck, Miriam C; Simioni, Milena; Nascimento, Diogo L. L; Andrade, Ana K. M; Rosenberg, Carla; Krepischi, Ana Cristina Victorino; Appenzeller, Simone; Monlleó, Isabela L; Gil-da-Silva-Lopes, Vera Lúcia
In: American Journal of Medical Genetics Part A. Unidade: IB
Subjects: Citogenética, Genótipos, Fenótipos, Malformações, Genética Médica, Deleção De Genes
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ABNT
FONTES, Marshall I. B; SANTOS, Ana P; MOLCK, Miriam C; et al. Genotype–phenotype correlation of 16p13.3 terminal duplication and 22q13.33 deletion: natural history of a patient and review of the literature. American Journal of Medical Genetics Part A, Hoboken, p. 1-7, 2015. Disponível em: < http://dx.doi.org/10.1002/ajmg.a.37494 > DOI: 10.1002/ajmg.a.37494.
APA
Fontes, M. I. B., Santos, A. P., Molck, M. C., Simioni, M., Nascimento, D. L. L., Andrade, A. K. M., et al. (2015). Genotype–phenotype correlation of 16p13.3 terminal duplication and 22q13.33 deletion: natural history of a patient and review of the literature. American Journal of Medical Genetics Part A, 1-7. doi:10.1002/ajmg.a.37494
NLM
Fontes MIB, Santos AP, Molck MC, Simioni M, Nascimento DLL, Andrade AKM, Rosenberg C, Krepischi ACV, Appenzeller S, Monlleó IL, Gil-da-Silva-Lopes VL. Genotype–phenotype correlation of 16p13.3 terminal duplication and 22q13.33 deletion: natural history of a patient and review of the literature [Internet]. American Journal of Medical Genetics Part A. 2015 ; 1-7.Available from: http://dx.doi.org/10.1002/ajmg.a.37494
Vancouver
Fontes MIB, Santos AP, Molck MC, Simioni M, Nascimento DLL, Andrade AKM, Rosenberg C, Krepischi ACV, Appenzeller S, Monlleó IL, Gil-da-Silva-Lopes VL. Genotype–phenotype correlation of 16p13.3 terminal duplication and 22q13.33 deletion: natural history of a patient and review of the literature [Internet]. American Journal of Medical Genetics Part A. 2015 ; 1-7.Available from: http://dx.doi.org/10.1002/ajmg.a.37494
Artigo de periodico
Genetic causes of intellectual disability in a birth cohort: A population-based study (2015)
Karam, Simone M.; Riegel, Mariluce; Segal, Sandra L.; Félix, Têmis M.; Barros, Aluísio J. D.; Santos, Iná S.; Matijasevich, Alicia; Giugliani, Roberto; Black, Maureen
In: American Journal of Medical Genetics Part A. Unidade: FM
Subjects: Doenças Neonatais E Anormalidades, Retardo Mental, Estudos De Coortes, Doenças Genéticas, Deficiência Mental
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ABNT
KARAM, Simone M.; RIEGEL, Mariluce; SEGAL, Sandra L.; et al. Genetic causes of intellectual disability in a birth cohort: A population-based study. American Journal of Medical Genetics Part A, Hoboken, n. 6, p. 1204-1214, 2015. Disponível em: < http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.37011/epdf > DOI: 10.1002/ajmg.a.37011.
APA
Karam, S. M., Riegel, M., Segal, S. L., Félix, T. M., Barros, A. J. D., Santos, I. S., et al. (2015). Genetic causes of intellectual disability in a birth cohort: A population-based study. American Journal of Medical Genetics Part A, ( 6), 1204-1214. doi:10.1002/ajmg.a.37011
NLM
Karam SM, Riegel M, Segal SL, Félix TM, Barros AJD, Santos IS, Matijasevich A, Giugliani R, Black M. Genetic causes of intellectual disability in a birth cohort: A population-based study [Internet]. American Journal of Medical Genetics Part A. 2015 ;( 6): 1204-1214.Available from: http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.37011/epdf
Vancouver
Karam SM, Riegel M, Segal SL, Félix TM, Barros AJD, Santos IS, Matijasevich A, Giugliani R, Black M. Genetic causes of intellectual disability in a birth cohort: A population-based study [Internet]. American Journal of Medical Genetics Part A. 2015 ;( 6): 1204-1214.Available from: http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.37011/epdf
Artigo de periodico-carta/editorial
Six additional cases of SEDC due to the same and recurrent R989C mutation in the COL2A1 gene—the clinical and radiological follow-up [Carta] (2015)
Silveira, Karina C.; Bonadia, Luciana C.; Superti-Furga, Andrea; Bertola, Débora Romeo; Jorge, Alexander A. L.; Cavalcanti, Denise P.
In: American Journal of Medical Genetics Part A. Unidades: IB, FM
Subjects: Mutação Genética, Recidiva, Diagnóstico Por Computador, Osteocondrodisplasias
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ABNT
SILVEIRA, Karina C.; BONADIA, Luciana C.; SUPERTI-FURGA, Andrea; et al. Six additional cases of SEDC due to the same and recurrent R989C mutation in the COL2A1 gene—the clinical and radiological follow-up [Carta]. American Journal of Medical Genetics Part A[S.l: s.n.], 2015.Disponível em: DOI: 10.1002/ajmg.a.36954.
APA
Silveira, K. C., Bonadia, L. C., Superti-Furga, A., Bertola, D. R., Jorge, A. A. L., & Cavalcanti, D. P. (2015). Six additional cases of SEDC due to the same and recurrent R989C mutation in the COL2A1 gene—the clinical and radiological follow-up [Carta]. American Journal of Medical Genetics Part A. Hoboken. doi:10.1002/ajmg.a.36954
NLM
Silveira KC, Bonadia LC, Superti-Furga A, Bertola DR, Jorge AAL, Cavalcanti DP. Six additional cases of SEDC due to the same and recurrent R989C mutation in the COL2A1 gene—the clinical and radiological follow-up [Carta] [Internet]. American Journal of Medical Genetics Part A. 2015 ;( 4): 894-901.Available from: http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.36954/epdf
Vancouver
Silveira KC, Bonadia LC, Superti-Furga A, Bertola DR, Jorge AAL, Cavalcanti DP. Six additional cases of SEDC due to the same and recurrent R989C mutation in the COL2A1 gene—the clinical and radiological follow-up [Carta] [Internet]. American Journal of Medical Genetics Part A. 2015 ;( 4): 894-901.Available from: http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.36954/epdf
Artigo de periodico
Craniosynostosis in 10q26 deletion patients: a consequence of brain underdevelopment or altered suture biology? (2015)
Faria, Ágatha Cristhina; Rabbi-Bortolini, Eliete; Reboucas, Maria R. G. O; Pereira, Andreia L. A. de S. Thiago; Frasson, Milena G. Tonini; Atique, Rodrigo; Lourenço, Naila Cristina Vilaça; Rosenberg, Carla; Kobayashi, Gerson Shigeru; Passos-Bueno, Maria Rita; Errera, Flávia Imbroisi Valle
In: American Journal of Medical Genetics Part A. Unidade: IB
Subjects: Craniossinostose, Anormalidades Craniofaciais, Genética Molecular, Doenças Genéticas, Cérebro (desenvolvimento), Mutação Genética
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ABNT
FARIA, Ágatha Cristhina; RABBI-BORTOLINI, Eliete; REBOUCAS, Maria R. G. O; et al. Craniosynostosis in 10q26 deletion patients: a consequence of brain underdevelopment or altered suture biology? American Journal of Medical Genetics Part A, Hoboken, v. No 2015, p. 1-7, 2015. Disponível em: < http://dx.doi.org/10.1002/ajmg.a.37448 > DOI: 10.1002/ajmg.a.37448.
APA
Faria, Á. C., Rabbi-Bortolini, E., Reboucas, M. R. G. O., Pereira, A. L. A. de S. T., Frasson, M. G. T., Atique, R., et al. (2015). Craniosynostosis in 10q26 deletion patients: a consequence of brain underdevelopment or altered suture biology? American Journal of Medical Genetics Part A, No 2015, 1-7. doi:10.1002/ajmg.a.37448
NLM
Faria ÁC, Rabbi-Bortolini E, Reboucas MRGO, Pereira ALA de ST, Frasson MGT, Atique R, Lourenço NCV, Rosenberg C, Kobayashi GS, Passos-Bueno MR, Errera FIV. Craniosynostosis in 10q26 deletion patients: a consequence of brain underdevelopment or altered suture biology? [Internet]. American Journal of Medical Genetics Part A. 2015 ; No 2015 1-7.Available from: http://dx.doi.org/10.1002/ajmg.a.37448
Vancouver
Faria ÁC, Rabbi-Bortolini E, Reboucas MRGO, Pereira ALA de ST, Frasson MGT, Atique R, Lourenço NCV, Rosenberg C, Kobayashi GS, Passos-Bueno MR, Errera FIV. Craniosynostosis in 10q26 deletion patients: a consequence of brain underdevelopment or altered suture biology? [Internet]. American Journal of Medical Genetics Part A. 2015 ; No 2015 1-7.Available from: http://dx.doi.org/10.1002/ajmg.a.37448
Artigo de periodico
Clinical evidence for a mandibular to maxillary transformation in auriculocondylar syndrome (2014)
Gordon, Christopher T.; Cunniff, Christopher M.; Green, Glenn E.; Ceide, Roseli Maria Zechi; Johnson, Jason M.; Henderson, Alex; Petit, Florence; Nakata, Nancy Mizue Kokitsu; Guion-Almeida, Maria Leine; Munnich, Arnold; Cunningham, Michael L.; Lyonnet, Stanislas; Amiel, Jeanne
In: American Journal of Medical Genetics Part A. Unidade: HRAC
Subjects: Desenvolvimento Maxilofacial, Anormalidades Craniofaciais, Fenótipos
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ABNT
GORDON, Christopher T.; CUNNIFF, Christopher M.; GREEN, Glenn E.; et al. Clinical evidence for a mandibular to maxillary transformation in auriculocondylar syndrome. American Journal of Medical Genetics Part A, Ney York, v. 164, n. 7, p. 1850-1853, 2014. DOI: 10.1002/ajmg.a.36505.
APA
Gordon, C. T., Cunniff, C. M., Green, G. E., Ceide, R. M. Z., Johnson, J. M., Henderson, A., et al. (2014). Clinical evidence for a mandibular to maxillary transformation in auriculocondylar syndrome. American Journal of Medical Genetics Part A, 164( 7), 1850-1853. doi:10.1002/ajmg.a.36505
NLM
Gordon CT, Cunniff CM, Green GE, Ceide RMZ, Johnson JM, Henderson A, Petit F, Nakata NMK, Guion-Almeida ML, Munnich A, Cunningham ML, Lyonnet S, Amiel J. Clinical evidence for a mandibular to maxillary transformation in auriculocondylar syndrome. American Journal of Medical Genetics Part A. 2014 ; 164( 7): 1850-1853.
Vancouver
Gordon CT, Cunniff CM, Green GE, Ceide RMZ, Johnson JM, Henderson A, Petit F, Nakata NMK, Guion-Almeida ML, Munnich A, Cunningham ML, Lyonnet S, Amiel J. Clinical evidence for a mandibular to maxillary transformation in auriculocondylar syndrome. American Journal of Medical Genetics Part A. 2014 ; 164( 7): 1850-1853.
Artigo de periodico
Further evidence of the importance of RIT1 in Noonan syndrome (2014)
Bertola, Débora Romeo; Yamamoto, Guilherme L; Almeida, Tatiana F; Buscarilli, Michele; Jorge, Alexander A L; Malaquias, Alexsandra C; Kim, Chong A; Takahashi, Vanessa N. V; Passos-Bueno, Maria Rita; Pereira, Alexandre C
In: American Journal of Medical Genetics Part A. Unidades: IB, FM
Subjects: Fenótipos, Hipertrofia Ventricular Esquerda, Mutação Genética, Sequenciamento Genético, Anormalidades Cardiovasculares, Insuficiência De Crescimento
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ABNT
BERTOLA, Débora Romeo; YAMAMOTO, Guilherme L; ALMEIDA, Tatiana F; et al. Further evidence of the importance of RIT1 in Noonan syndrome. American Journal of Medical Genetics Part A, Hoboken, p. 1-6, 2014. Disponível em: < http://dx.doi.org/10.1002/ajmg.a.36722 > DOI: 10.1002/ajmg.a.36722.
APA
Bertola, D. R., Yamamoto, G. L., Almeida, T. F., Buscarilli, M., Jorge, A. A. L., Malaquias, A. C., et al. (2014). Further evidence of the importance of RIT1 in Noonan syndrome. American Journal of Medical Genetics Part A, 1-6. doi:10.1002/ajmg.a.36722
NLM
Bertola DR, Yamamoto GL, Almeida TF, Buscarilli M, Jorge AAL, Malaquias AC, Kim CA, Takahashi VNV, Passos-Bueno MR, Pereira AC. Further evidence of the importance of RIT1 in Noonan syndrome [Internet]. American Journal of Medical Genetics Part A. 2014 ; 1-6.Available from: http://dx.doi.org/10.1002/ajmg.a.36722
Vancouver
Bertola DR, Yamamoto GL, Almeida TF, Buscarilli M, Jorge AAL, Malaquias AC, Kim CA, Takahashi VNV, Passos-Bueno MR, Pereira AC. Further evidence of the importance of RIT1 in Noonan syndrome [Internet]. American Journal of Medical Genetics Part A. 2014 ; 1-6.Available from: http://dx.doi.org/10.1002/ajmg.a.36722
Artigo de periodico
Auriculo-condylar syndrome: confronting a diagnostic challenge (2012)
Kokitsu-Nakata, Nancy Mizue; Zechi-Ceide, Roseli Maria; Vendramini-Pittoli, Siulan; Tavares, Vanessa Luiza Romanelli; Passos-Bueno, Maria Rita; Guion-Almeida, Maria Leine
In: American Journal of Medical Genetics Part A. Unidades: IB, HRAC
Subjects: Malformações, Genética Médica
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
KOKITSU-NAKATA, Nancy Mizue; ZECHI-CEIDE, Roseli Maria; VENDRAMINI-PITTOLI, Siulan; et al. Auriculo-condylar syndrome: confronting a diagnostic challenge. American Journal of Medical Genetics Part A, Hoboken, v. 158 A, n. Ja 2012, p. 59-65, 2012. Disponível em: < http://dx.doi.org/10.1002/ajmg.a.34337 > DOI: 10.1002/ajmg.a.34337.
APA
Kokitsu-Nakata, N. M., Zechi-Ceide, R. M., Vendramini-Pittoli, S., 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
Kokitsu-Nakata NM, Zechi-Ceide RM, Vendramini-Pittoli S, 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.Available from: http://dx.doi.org/10.1002/ajmg.a.34337
Vancouver
Kokitsu-Nakata NM, Zechi-Ceide RM, Vendramini-Pittoli S, 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.Available from: http://dx.doi.org/10.1002/ajmg.a.34337
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
In: American Journal of Medical Genetics Part A. Unidades: HRAC, IB
Subjects: Agenesia, Anormalidades Craniofaciais, Lábio Fissurado
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
GUION-ALMEIDA, Maria Leine; RICHIERI-COSTA, Antonio; JEHEE, Fernanda Sarquis; PASSOS-BUENO, Maria Rita; ZECHI-CEIDE, Roseli Maria. Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletion. American Journal of Medical Genetics Part A, Hoboken, v. 158A, n. 7, p. 1676-1679, 2012. Disponível em: < http://dx.doi.org/10.1002/ajmg.a.35351 > DOI: 10.1002/ajmg.a.35351.
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.Available from: http://dx.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.Available from: http://dx.doi.org/10.1002/ajmg.a.35351
Artigo de periodico
Laryngeal malformation in Richieri-Costa Pereira syndrome: new findings (2012)
Miguel, Haline Coracine; Carneiro, Christiano Giácomo; Tabith Júnior, Alfredo; Zechi-Ceide, Roseli Maria; Genaro, Kátia Flores
In: American Journal of Medical Genetics Part A. Unidades: HRAC, FOB
Subjects: Malformações, Laringe, Distúrbios Da Voz
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ABNT
MIGUEL, Haline Coracine; CARNEIRO, Christiano Giácomo; TABITH JÚNIOR, Alfredo; ZECHI-CEIDE, Roseli Maria; GENARO, Kátia Flores. Laryngeal malformation in Richieri-Costa Pereira syndrome: new findings. American Journal of Medical Genetics Part A, New York, v. 158A, n. 8, p. 1967-1970, 2012. Disponível em: < http://dx.doi.org/10.1002/ajmg.a.35421 > DOI: 10.1002/ajmg.a.35421.
APA
Miguel, H. C., Carneiro, C. G., Tabith Júnior, A., Zechi-Ceide, R. M., & Genaro, K. F. (2012). Laryngeal malformation in Richieri-Costa Pereira syndrome: new findings. American Journal of Medical Genetics Part A, 158A( 8), 1967-1970. doi:10.1002/ajmg.a.35421
NLM
Miguel HC, Carneiro CG, Tabith Júnior A, Zechi-Ceide RM, Genaro KF. Laryngeal malformation in Richieri-Costa Pereira syndrome: new findings [Internet]. American Journal of Medical Genetics Part A. 2012 ; 158A( 8): 1967-1970.Available from: http://dx.doi.org/10.1002/ajmg.a.35421
Vancouver
Miguel HC, Carneiro CG, Tabith Júnior A, Zechi-Ceide RM, Genaro KF. Laryngeal malformation in Richieri-Costa Pereira syndrome: new findings [Internet]. American Journal of Medical Genetics Part A. 2012 ; 158A( 8): 1967-1970.Available from: http://dx.doi.org/10.1002/ajmg.a.35421
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)
Ceide, Roseli Maria Zechi; Rodrigues, Melina Guerreiro; Jehee, Fernanda Sarquis; Nakata, Nancy Mizue Kokitsu; Passos Bueno, Maria Rita; Guion Almeida, Maria Leine
In: American Journal of Medical Genetics Part A. Unidades: HRAC, IB
Subjects: Cromossomos, Genética Médica, Genes
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
CEIDE, Roseli Maria Zechi; RODRIGUES, Melina Guerreiro; JEHEE, Fernanda Sarquis; 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, Hoboken, v. 158A, n. 7, p. 1680\20131685, 2012. Disponível em: < http://dx.doi.org/10.1002/ajmg.a.35367 > DOI: 10.1002/ajmg.a.35367.
APA
Ceide, R. M. Z., 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
Ceide RMZ, 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.Available from: http://dx.doi.org/10.1002/ajmg.a.35367
Vancouver
Ceide RMZ, 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.Available from: http://dx.doi.org/10.1002/ajmg.a.35367
Artigo de periodico
Obesity in pycnodysostosis due to UPD1: possible effect of an imprinted gene on chromosome 1 (2011)
Bertola, Débora Romeo; Aguena, Meire; Yamamoto, Guilherme; Kim, Chong Ae; Passos-Bueno, Maria Rita
In: American Journal of Medical Genetics Part A. Unidade: IB
Subjects: Mutação Genética, Doenças Genéticas, Obesidade
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
BERTOLA, Débora Romeo; AGUENA, Meire; YAMAMOTO, Guilherme; KIM, Chong Ae; PASSOS-BUENO, Maria Rita. Obesity in pycnodysostosis due to UPD1: possible effect of an imprinted gene on chromosome 1. American Journal of Medical Genetics Part A, Hoboken, v. 155A, n. 6, p. 1483-1486, 2011. Disponível em: < http://dx.doi.org/10.1002/ajmg.a.33989 > DOI: 10.1002/ajmg.a.33989.
APA
Bertola, D. R., Aguena, M., Yamamoto, G., Kim, C. A., & Passos-Bueno, M. R. (2011). Obesity in pycnodysostosis due to UPD1: possible effect of an imprinted gene on chromosome 1. American Journal of Medical Genetics Part A, 155A( 6), 1483-1486. doi:10.1002/ajmg.a.33989
NLM
Bertola DR, Aguena M, Yamamoto G, Kim CA, Passos-Bueno MR. Obesity in pycnodysostosis due to UPD1: possible effect of an imprinted gene on chromosome 1 [Internet]. American Journal of Medical Genetics Part A. 2011 ; 155A( 6): 1483-1486.Available from: http://dx.doi.org/10.1002/ajmg.a.33989
Vancouver
Bertola DR, Aguena M, Yamamoto G, Kim CA, Passos-Bueno MR. Obesity in pycnodysostosis due to UPD1: possible effect of an imprinted gene on chromosome 1 [Internet]. American Journal of Medical Genetics Part A. 2011 ; 155A( 6): 1483-1486.Available from: http://dx.doi.org/10.1002/ajmg.a.33989
Artigo de periodico
Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver–Russell syndrome (2011)
Bonaldi, Adriano; Mazzeu, Juliana Forte; Costa, Silvia Souza da; Honjo, Rachel Sayuri; Bertola, Débora Romeo; Albano, Lilian Maria José; Furquim, Isabel M; Kim, Chong A; Vianna-Morgante, Angela Maria
In: American Journal of Medical Genetics Part A. Unidade: IB
Subjects: Doenças Genéticas, Expressão Gênica, Anormalidades Cromossômicas
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
BONALDI, Adriano; MAZZEU, Juliana Forte; COSTA, Silvia Souza da; et al. Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver–Russell syndrome. American Journal of Medical Genetics Part A, Hoboken, v. 155, n. 10, p. 2479-2483, 2011. Disponível em: < http://dx.doi.org/10.1002/ajmg.a.34023 > DOI: 10.1002/ajmg.a.34023.
APA
Bonaldi, A., Mazzeu, J. F., Costa, S. S. da, Honjo, R. S., Bertola, D. R., Albano, L. M. J., et al. (2011). Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver–Russell syndrome. American Journal of Medical Genetics Part A, 155( 10), 2479-2483. doi:10.1002/ajmg.a.34023
NLM
Bonaldi A, Mazzeu JF, Costa SS da, Honjo RS, Bertola DR, Albano LMJ, Furquim IM, Kim CA, Vianna-Morgante AM. Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver–Russell syndrome [Internet]. American Journal of Medical Genetics Part A. 2011 ; 155( 10): 2479-2483.Available from: http://dx.doi.org/10.1002/ajmg.a.34023
Vancouver
Bonaldi A, Mazzeu JF, Costa SS da, Honjo RS, Bertola DR, Albano LMJ, Furquim IM, Kim CA, Vianna-Morgante AM. Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver–Russell syndrome [Internet]. American Journal of Medical Genetics Part A. 2011 ; 155( 10): 2479-2483.Available from: http://dx.doi.org/10.1002/ajmg.a.34023
Artigo de periodico
Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization (2011)
Freitas, Erika L; Gribble, Susan M.; Simioni, Milena; Vieira, Társis P.; Silva-Grecco, Roseane L; Balarin, Marly A. S; Prigmore, Elena; Krepischi-Santos, Ana Cristina; Rosenberg, Carla; Szuhai, Karoly; Haeringen Arie van; Carter, Nigel P; Gil-da-Silva-Lopes, Vera Lúcia
In: American Journal of Medical Genetics Part A. Unidade: IB
Subjects: Doenças Genéticas, Anomalia Dentária, Retardo Mental
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
FREITAS, Erika L; GRIBBLE, Susan M.; SIMIONI, Milena; et al. Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization. American Journal of Medical Genetics Part A, Hoboken, v. No 2011, n. 11, p. 2754-2761, 2011. Disponível em: < http://dx.doi.org/10.1002/ajmg.a.34168 > DOI: 10.1002/ajmg.a.34168.
APA
Freitas, E. L., Gribble, S. M., Simioni, M., Vieira, T. P., Silva-Grecco, R. L., Balarin, M. A. S., et al. (2011). Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization. American Journal of Medical Genetics Part A, No 2011( 11), 2754-2761. doi:10.1002/ajmg.a.34168
NLM
Freitas EL, Gribble SM, Simioni M, Vieira TP, Silva-Grecco RL, Balarin MAS, Prigmore E, Krepischi-Santos AC, Rosenberg C, Szuhai K, Haeringen Arie van, Carter NP, Gil-da-Silva-Lopes VL. Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization [Internet]. American Journal of Medical Genetics Part A. 2011 ; No 2011( 11): 2754-2761.Available from: http://dx.doi.org/10.1002/ajmg.a.34168
Vancouver
Freitas EL, Gribble SM, Simioni M, Vieira TP, Silva-Grecco RL, Balarin MAS, Prigmore E, Krepischi-Santos AC, Rosenberg C, Szuhai K, Haeringen Arie van, Carter NP, Gil-da-Silva-Lopes VL. Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization [Internet]. American Journal of Medical Genetics Part A. 2011 ; No 2011( 11): 2754-2761.Available from: http://dx.doi.org/10.1002/ajmg.a.34168
Artigo de periodico
Deletion 5q12: delineation of a phenotype including mental retardation and ocular defects (2011)
Jaillard, Sylvie; Andrieux, Joris; Plessis, Ghislaine; Krepischi, A C V; Lucas, Josette; David, Véronique; Brun, Marine Le; Bertola, Débora Romeo; David, Albert; Belaud-Rotureau, Marc-Antoine; Mosser, Jean; Lazaro, Leila; Treguier, Catherine; Rosenberg, Carla; Odent, Sylvie; Dubourg, Christèle
In: American Journal of Medical Genetics Part A. Unidade: IB
Subjects: Retardo Mental, Fenótipos
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
JAILLARD, Sylvie; ANDRIEUX, Joris; PLESSIS, Ghislaine; et al. Deletion 5q12: delineation of a phenotype including mental retardation and ocular defects. American Journal of Medical Genetics Part A, Hoboken, v. 155A, n. 4, p. 725-731, 2011. Disponível em: < http://dx.doi.org/10.1002/ajmg.a.33758 > DOI: 10.1002/ajmg.a.33758.
APA
Jaillard, S., Andrieux, J., Plessis, G., Krepischi, A. C. V., Lucas, J., David, V., et al. (2011). Deletion 5q12: delineation of a phenotype including mental retardation and ocular defects. American Journal of Medical Genetics Part A, 155A( 4), 725-731. doi:10.1002/ajmg.a.33758
NLM
Jaillard S, Andrieux J, Plessis G, Krepischi ACV, Lucas J, David V, Brun ML, Bertola DR, David A, Belaud-Rotureau M-A, Mosser J, Lazaro L, Treguier C, Rosenberg C, Odent S, Dubourg C. Deletion 5q12: delineation of a phenotype including mental retardation and ocular defects [Internet]. American Journal of Medical Genetics Part A. 2011 ; 155A( 4): 725-731.Available from: http://dx.doi.org/10.1002/ajmg.a.33758
Vancouver
Jaillard S, Andrieux J, Plessis G, Krepischi ACV, Lucas J, David V, Brun ML, Bertola DR, David A, Belaud-Rotureau M-A, Mosser J, Lazaro L, Treguier C, Rosenberg C, Odent S, Dubourg C. Deletion 5q12: delineation of a phenotype including mental retardation and ocular defects [Internet]. American Journal of Medical Genetics Part A. 2011 ; 155A( 4): 725-731.Available from: http://dx.doi.org/10.1002/ajmg.a.33758
Artigo de periodico
Richieri-Costa–Pereira syndrome: a unique acrofacial dysostosis type: an overview of the Brazilian cases (2011)
Favaro, Francine Pinheiro; Zechi-Ceide, Roseli Maria; Alvarez, Camila Wenceslau; Maximino, Luciana Paula; Antunes, Luis Fernando B. B.; Richieri-Costa, Antonio; Guion-Almeida, Maria Leine
In: American Journal of Medical Genetics Part A. Unidades: FOB, HRAC
Subjects: Síndrome De Pierre Robin, Fissura Lábiopalatina, Anomalia Craniofacial, Extremidades (radiografia), Mandíbula (radiografia)
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
FAVARO, Francine Pinheiro; ZECHI-CEIDE, Roseli Maria; ALVAREZ, Camila Wenceslau; et al. Richieri-Costa–Pereira syndrome: a unique acrofacial dysostosis type: an overview of the Brazilian cases. American Journal of Medical Genetics Part A, Hoboken, v. 155, n. 2, p. 322-331, 2011. Disponível em: < http://dx.doi.org/10.1002/ajmg.a.33806 > DOI: 10.1002/ajmg.a.33806.
APA
Favaro, F. P., Zechi-Ceide, R. M., Alvarez, C. W., Maximino, L. P., Antunes, L. F. B. B., Richieri-Costa, A., & Guion-Almeida, M. L. (2011). Richieri-Costa–Pereira syndrome: a unique acrofacial dysostosis type: an overview of the Brazilian cases. American Journal of Medical Genetics Part A, 155( 2), 322-331. doi:10.1002/ajmg.a.33806
NLM
Favaro FP, Zechi-Ceide RM, Alvarez CW, Maximino LP, Antunes LFBB, Richieri-Costa A, Guion-Almeida ML. Richieri-Costa–Pereira syndrome: a unique acrofacial dysostosis type: an overview of the Brazilian cases [Internet]. American Journal of Medical Genetics Part A. 2011 ; 155( 2): 322-331.Available from: http://dx.doi.org/10.1002/ajmg.a.33806
Vancouver
Favaro FP, Zechi-Ceide RM, Alvarez CW, Maximino LP, Antunes LFBB, Richieri-Costa A, Guion-Almeida ML. Richieri-Costa–Pereira syndrome: a unique acrofacial dysostosis type: an overview of the Brazilian cases [Internet]. American Journal of Medical Genetics Part A. 2011 ; 155( 2): 322-331.Available from: http://dx.doi.org/10.1002/ajmg.a.33806
Artigo de periodico-carta/editorial
Reply to Dr. Finsterer "Callosal Agenesis and Left Ventricular Hypertrabeculation/Noncompaction" (2010)
Richieri-Costa, Antonio; Abramides, Dagma Venturini Marques; Maximino, Luciana Paula; Giacheti, Célia M.; Lamônica, Dionísia Aparecida Cusin
In: American Journal of Medical Genetics Part A. Unidades: HRAC, FOB
Subjects: Retardo Mental, Distúrbios Da Fala, Transtornos Da Linguagem, Ventrículo Cardíaco (genética), Telencéfalo (anormalidades)
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
RICHIERI-COSTA, Antonio; ABRAMIDES, Dagma Venturini Marques; MAXIMINO, Luciana Paula; GIACHETI, Célia M.; LAMÔNICA, Dionísia Aparecida Cusin. Reply to Dr. Finsterer "Callosal Agenesis and Left Ventricular Hypertrabeculation/Noncompaction". American Journal of Medical Genetics Part A[S.l: s.n.], 2010.Disponível em: .
APA
Richieri-Costa, A., Abramides, D. V. M., Maximino, L. P., Giacheti, C. M., & Lamônica, D. A. C. (2010). Reply to Dr. Finsterer "Callosal Agenesis and Left Ventricular Hypertrabeculation/Noncompaction". American Journal of Medical Genetics Part A. Hoboken. Recuperado de http://dx.doi.org/10.1002/ajmg.a.33116
NLM
Richieri-Costa A, Abramides DVM, Maximino LP, Giacheti CM, Lamônica DAC. Reply to Dr. Finsterer "Callosal Agenesis and Left Ventricular Hypertrabeculation/Noncompaction" [Internet]. American Journal of Medical Genetics Part A. 2010 ; 152A( 5): 1330.Available from: http://dx.doi.org/10.1002/ajmg.a.33116
Vancouver
Richieri-Costa A, Abramides DVM, Maximino LP, Giacheti CM, Lamônica DAC. Reply to Dr. Finsterer "Callosal Agenesis and Left Ventricular Hypertrabeculation/Noncompaction" [Internet]. American Journal of Medical Genetics Part A. 2010 ; 152A( 5): 1330.Available from: http://dx.doi.org/10.1002/ajmg.a.33116
Artigo de periodico
Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation (2010)
Lugtenberg, Dorien; Zangrande-Vieira, Luiz; Kirchhoff, Maria; Whibley, Annabel C.; Oudakker, Astrid R.; Kjaergaard, Susanne; Vianna-Morgante, Angela Maria; Kleefstra, Tjitske; Ruiter, Mariken; Jehee, Fernanda S.; Ullmann, Reinhard; Schwartz, Charles E.; Stratton, Michael; Raymond, F. Lucy; Veltman, Joris A.; Vrijenhoek, Terry; Pfundt, Rolph; Schuurs-Hoeijmakers, Janneke H. M.; Hehir-Kwa, Jayne y.; Froyen, Guy; Chelly, Jamel; Ropers, Hans Hilger; Moraine, Claude; Gècz, Jozef; Knijnenburg, Jeroen; Kant, Sarina G.; Hamel, Ben C. J.; Resenberg, Carla; Bokhoven, Hans van; Brouwer, Arjan P. M. de
In: American Journal of Medical Genetics Part A. Unidade: IB
Subjects: Genética, Retardo Mental
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
LUGTENBERG, Dorien; ZANGRANDE-VIEIRA, Luiz; KIRCHHOFF, Maria; et al. Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation. American Journal of Medical Genetics Part A, Hoboken, v. 152A n. 3, p. 638-645, 2010. Disponível em: < http://dx.doi.org/10.1002/ajmg.a.33292 > DOI: 10.1002/ajmg.a.33292.
APA
Lugtenberg, D., Zangrande-Vieira, L., Kirchhoff, M., Whibley, A. C., Oudakker, A. R., Kjaergaard, S., et al. (2010). Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation. American Journal of Medical Genetics Part A, 152A n. 3, 638-645. doi:10.1002/ajmg.a.33292
NLM
Lugtenberg D, Zangrande-Vieira L, Kirchhoff M, Whibley AC, Oudakker AR, Kjaergaard S, Vianna-Morgante AM, Kleefstra T, Ruiter M, Jehee FS, Ullmann R, Schwartz CE, Stratton M, Raymond FL, Veltman JA, Vrijenhoek T, Pfundt R, Schuurs-Hoeijmakers JHM, Hehir-Kwa J y., Froyen G, Chelly J, Ropers HH, Moraine C, Gècz J, Knijnenburg J, Kant SG, Hamel BCJ, Resenberg C, Bokhoven H van, Brouwer APM de. Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation [Internet]. American Journal of Medical Genetics Part A. 2010 ; 152A n. 3 638-645.Available from: http://dx.doi.org/10.1002/ajmg.a.33292
Vancouver
Lugtenberg D, Zangrande-Vieira L, Kirchhoff M, Whibley AC, Oudakker AR, Kjaergaard S, Vianna-Morgante AM, Kleefstra T, Ruiter M, Jehee FS, Ullmann R, Schwartz CE, Stratton M, Raymond FL, Veltman JA, Vrijenhoek T, Pfundt R, Schuurs-Hoeijmakers JHM, Hehir-Kwa J y., Froyen G, Chelly J, Ropers HH, Moraine C, Gècz J, Knijnenburg J, Kant SG, Hamel BCJ, Resenberg C, Bokhoven H van, Brouwer APM de. Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation [Internet]. American Journal of Medical Genetics Part A. 2010 ; 152A n. 3 638-645.Available from: http://dx.doi.org/10.1002/ajmg.a.33292
Artigo de periodico
Craniosynostosis in pycnodysostosis: broadening the spectrum of the cranial flat bone abnormalities (2010)
Bertola, Débora Romeo; Amaral, Cassio; Kim, Chong Ae; Albano, Lilian Maria José; Aguena, Meire; Passos-Bueno, Maria Rita
In: American Journal of Medical Genetics Part A. Unidade: IB
Subjects: Craniossinostose, Doenças Genéticas
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
BERTOLA, Débora Romeo; AMARAL, Cassio; KIM, Chong Ae; et al. Craniosynostosis in pycnodysostosis: broadening the spectrum of the cranial flat bone abnormalities. American Journal of Medical Genetics Part A, Hoboken, v. 152A, n. 10, p. 2599-2603, 2010. Disponível em: < http://dx.doi.org/10.1002/ajmg.a.33609 > DOI: 10.1002/ajmg.a.33609.
APA
Bertola, D. R., Amaral, C., Kim, C. A., Albano, L. M. J., Aguena, M., & Passos-Bueno, M. R. (2010). Craniosynostosis in pycnodysostosis: broadening the spectrum of the cranial flat bone abnormalities. American Journal of Medical Genetics Part A, 152A( 10), 2599-2603. doi:10.1002/ajmg.a.33609
NLM
Bertola DR, Amaral C, Kim CA, Albano LMJ, Aguena M, Passos-Bueno MR. Craniosynostosis in pycnodysostosis: broadening the spectrum of the cranial flat bone abnormalities [Internet]. American Journal of Medical Genetics Part A. 2010 ; 152A( 10): 2599-2603.Available from: http://dx.doi.org/10.1002/ajmg.a.33609
Vancouver
Bertola DR, Amaral C, Kim CA, Albano LMJ, Aguena M, Passos-Bueno MR. Craniosynostosis in pycnodysostosis: broadening the spectrum of the cranial flat bone abnormalities [Internet]. American Journal of Medical Genetics Part A. 2010 ; 152A( 10): 2599-2603.Available from: http://dx.doi.org/10.1002/ajmg.a.33609

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