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Artigo de periodico
Identification of a de novo PUF60 variant associated with craniofacial microsomia (2024)
Ogawa, Takuya ; Xue, Jingyi; Guo, Long ; Inoue-Arai, Maristela Sayuri ; Vendramini-Pittoli, Siulan ; Zechi-Ceide, Roseli Maria ; Candido-Souza, Rosana Maria ; Tonello, Cristiano ; Brandão, Michele Madeira ; Ozawa, Terumi Okada ; Peixoto, Adriano Porto ; Ruiz, Daniela Maria Cury Ferreira; Nakashima, Tomoki; Ikegawa, Shiro; Moriyama, Keiji ; Kokitsu-Nakata, Nancy Mizue
Source: American Journal of Medical Genetics. Part A. Unidade: HRAC
Subjects: ASSIMETRIA FACIAL, FENÓTIPOS, MANDÍBULA, MALFORMAÇÕES
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
OGAWA, Takuya et al. Identification of a de novo PUF60 variant associated with craniofacial microsomia. American Journal of Medical Genetics. Part A, v. 194, n. 9, p. Se 2024, 2024Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.63631. Acesso em: 04 nov. 2024.
APA
Ogawa, T., Xue, J., Guo, L., Inoue-Arai, M. S., Vendramini-Pittoli, S., Zechi-Ceide, R. M., et al. (2024). Identification of a de novo PUF60 variant associated with craniofacial microsomia. American Journal of Medical Genetics. Part A, 194( 9), Se 2024. doi:10.1002/ajmg.a.63631
NLM
Ogawa T, Xue J, Guo L, Inoue-Arai MS, Vendramini-Pittoli S, Zechi-Ceide RM, Candido-Souza RM, Tonello C, Brandão MM, Ozawa TO, Peixoto AP, Ruiz DMCF, Nakashima T, Ikegawa S, Moriyama K, Kokitsu-Nakata NM. Identification of a de novo PUF60 variant associated with craniofacial microsomia [Internet]. American Journal of Medical Genetics. Part A. 2024 ; 194( 9): Se 2024.[citado 2024 nov. 04 ] Available from: https://doi.org/10.1002/ajmg.a.63631
Vancouver
Ogawa T, Xue J, Guo L, Inoue-Arai MS, Vendramini-Pittoli S, Zechi-Ceide RM, Candido-Souza RM, Tonello C, Brandão MM, Ozawa TO, Peixoto AP, Ruiz DMCF, Nakashima T, Ikegawa S, Moriyama K, Kokitsu-Nakata NM. Identification of a de novo PUF60 variant associated with craniofacial microsomia [Internet]. American Journal of Medical Genetics. Part A. 2024 ; 194( 9): Se 2024.[citado 2024 nov. 04 ] Available from: https://doi.org/10.1002/ajmg.a.63631
Artigo de periodico
Oculoauriculofrontonasal syndrome review: refining the phenotype through a new case series and literature (2023)
Serigatto, Henrique Regonaschi ; Kokitsu-Nakata, Nancy Mizue ; Vendramini-Pittoli, Siulan ; Tonello, Cristiano ; Moura, Priscila Padilha; Peixoto, Adriano Porto ; Gomes, Luiz Paulo; Zechi-Ceide, Roseli Maria
Source: American Journal of Medical Genetics. Part A. Unidades: HRAC, FOB, HRACF
Subjects: FISSURA PALATINA, ASSIMETRIA FACIAL, FENÓTIPOS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
SERIGATTO, Henrique Regonaschi et al. Oculoauriculofrontonasal syndrome review: refining the phenotype through a new case series and literature. American Journal of Medical Genetics. Part A, v. No 2023, n. 11, p. 2493-2507, 2023Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.63319. Acesso em: 04 nov. 2024.
APA
Serigatto, H. R., Kokitsu-Nakata, N. M., Vendramini-Pittoli, S., Tonello, C., Moura, P. P., Peixoto, A. P., et al. (2023). Oculoauriculofrontonasal syndrome review: refining the phenotype through a new case series and literature. American Journal of Medical Genetics. Part A, No 2023( 11), 2493-2507. doi:10.1002/ajmg.a.63319
NLM
Serigatto HR, Kokitsu-Nakata NM, Vendramini-Pittoli S, Tonello C, Moura PP, Peixoto AP, Gomes LP, Zechi-Ceide RM. Oculoauriculofrontonasal syndrome review: refining the phenotype through a new case series and literature [Internet]. American Journal of Medical Genetics. Part A. 2023 ; No 2023( 11): 2493-2507.[citado 2024 nov. 04 ] Available from: https://doi.org/10.1002/ajmg.a.63319
Vancouver
Serigatto HR, Kokitsu-Nakata NM, Vendramini-Pittoli S, Tonello C, Moura PP, Peixoto AP, Gomes LP, Zechi-Ceide RM. Oculoauriculofrontonasal syndrome review: refining the phenotype through a new case series and literature [Internet]. American Journal of Medical Genetics. Part A. 2023 ; No 2023( 11): 2493-2507.[citado 2024 nov. 04 ] Available from: https://doi.org/10.1002/ajmg.a.63319
Artigo de periodico
Craniocervical instability in oculoauriculovertebral spectrum (2023)
Gomes, Luiz Paulo; Ferraz, Beatriz Gonçalves ; Brandão, Michele Madeira ; Alonso, Nivaldo ; Pittoli, Siulan Vendramini ; Tonello, Cristiano
Source: The Journal of Craniofacial Surgery. Unidades: HRAC, FOB, HRACF
Subjects: INSTABILIDADE ARTICULAR, COLUNA VERTEBRAL, SÍNDROME DE GOLDENHAR, ASSIMETRIA FACIAL
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ABNT
GOMES, Luiz Paulo et al. Craniocervical instability in oculoauriculovertebral spectrum. The Journal of Craniofacial Surgery, v. 34, n. 4, p. 1283-1286, 2023Tradução . . Disponível em: https://doi.org/10.1097/SCS.0000000000009192. Acesso em: 04 nov. 2024.
APA
Gomes, L. P., Ferraz, B. G., Brandão, M. M., Alonso, N., Pittoli, S. V., & Tonello, C. (2023). Craniocervical instability in oculoauriculovertebral spectrum. The Journal of Craniofacial Surgery, 34( 4), 1283-1286. doi:10.1097/SCS.0000000000009192
NLM
Gomes LP, Ferraz BG, Brandão MM, Alonso N, Pittoli SV, Tonello C. Craniocervical instability in oculoauriculovertebral spectrum [Internet]. The Journal of Craniofacial Surgery. 2023 ; 34( 4): 1283-1286.[citado 2024 nov. 04 ] Available from: https://doi.org/10.1097/SCS.0000000000009192
Vancouver
Gomes LP, Ferraz BG, Brandão MM, Alonso N, Pittoli SV, Tonello C. Craniocervical instability in oculoauriculovertebral spectrum [Internet]. The Journal of Craniofacial Surgery. 2023 ; 34( 4): 1283-1286.[citado 2024 nov. 04 ] Available from: https://doi.org/10.1097/SCS.0000000000009192
Artigo de periodico
Craniofacial microsomia: new updates in spinal anomalies (2023)
Ferraz, Beatriz Gonçalves ; Vendramini-Pittoli, Siulan ; Gomes, Luiz Paulo; Brandão, Michele Madeira ; Alonso, Nivaldo ; Tonello, Cristiano
Source: The Journal of Craniofacial Surgery. Unidades: HRAC, FOB, HRACF
Subjects: ASSIMETRIA FACIAL, SÍNDROME DE GOLDENHAR, COLUNA VERTEBRAL
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
FERRAZ, Beatriz Gonçalves et al. Craniofacial microsomia: new updates in spinal anomalies. The Journal of Craniofacial Surgery, v. 34, n. 4, p. e398-e401, 2023Tradução . . Disponível em: https://doi.org/10.1097/scs.0000000000009326. Acesso em: 04 nov. 2024.
APA
Ferraz, B. G., Vendramini-Pittoli, S., Gomes, L. P., Brandão, M. M., Alonso, N., & Tonello, C. (2023). Craniofacial microsomia: new updates in spinal anomalies. The Journal of Craniofacial Surgery, 34( 4), e398-e401. doi:10.1097/scs.0000000000009326
NLM
Ferraz BG, Vendramini-Pittoli S, Gomes LP, Brandão MM, Alonso N, Tonello C. Craniofacial microsomia: new updates in spinal anomalies [Internet]. The Journal of Craniofacial Surgery. 2023 ; 34( 4): e398-e401.[citado 2024 nov. 04 ] Available from: https://doi.org/10.1097/scs.0000000000009326
Vancouver
Ferraz BG, Vendramini-Pittoli S, Gomes LP, Brandão MM, Alonso N, Tonello C. Craniofacial microsomia: new updates in spinal anomalies [Internet]. The Journal of Craniofacial Surgery. 2023 ; 34( 4): e398-e401.[citado 2024 nov. 04 ] Available from: https://doi.org/10.1097/scs.0000000000009326
Trabalho de evento-resumo
Fissuras raras da face e apêndices finger-like: desorganização em seres humanos (2022)
Serigatto, Henrique Regonaschi ; Virmond, Luiza do Amaral; Kokitsu-Nakata, Nancy Mizue ; Vendramini-Pittoli, Siulan ; Rosenberg, Carla ; Zechi-Ceide, Roseli Maria
Source: Anais. Conference titles: Congresso Médico Acadêmico de Bauru da Universidade de São Paulo - COMAB. Unidades: HRAC, IB, HRACF
Subjects: ANOMALIA FACIAL, TERATOLOGIA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
SERIGATTO, Henrique Regonaschi et al. Fissuras raras da face e apêndices finger-like: desorganização em seres humanos. 2022, Anais.. Bauru: Faculdade de Odontologia de Bauru. Universidade de São Paulo, 2022. Disponível em: https://repositorio.usp.br/directbitstream/934b4ccb-9ab6-47a1-b2b4-0066de69de1c/3139253.pdf. Acesso em: 04 nov. 2024.
APA
Serigatto, H. R., Virmond, L. do A., Kokitsu-Nakata, N. M., Vendramini-Pittoli, S., Rosenberg, C., & Zechi-Ceide, R. M. (2022). Fissuras raras da face e apêndices finger-like: desorganização em seres humanos. In Anais. Bauru: Faculdade de Odontologia de Bauru. Universidade de São Paulo. Recuperado de https://repositorio.usp.br/directbitstream/934b4ccb-9ab6-47a1-b2b4-0066de69de1c/3139253.pdf
NLM
Serigatto HR, Virmond L do A, Kokitsu-Nakata NM, Vendramini-Pittoli S, Rosenberg C, Zechi-Ceide RM. Fissuras raras da face e apêndices finger-like: desorganização em seres humanos [Internet]. Anais. 2022 ;[citado 2024 nov. 04 ] Available from: https://repositorio.usp.br/directbitstream/934b4ccb-9ab6-47a1-b2b4-0066de69de1c/3139253.pdf
Vancouver
Serigatto HR, Virmond L do A, Kokitsu-Nakata NM, Vendramini-Pittoli S, Rosenberg C, Zechi-Ceide RM. Fissuras raras da face e apêndices finger-like: desorganização em seres humanos [Internet]. Anais. 2022 ;[citado 2024 nov. 04 ] Available from: https://repositorio.usp.br/directbitstream/934b4ccb-9ab6-47a1-b2b4-0066de69de1c/3139253.pdf
Trabalho de evento-resumo periodico
MID1 gene variations in a Brazilian cohort with cleft lip with or without palate and ocular hypertelorism: implication for diagnosis (2022)
Zechi-Ceide, Roseli Maria ; Kokitsu-Nakata, Nancy Mizue; Alvarez, Camila Wenceslau ; Migliore, Chiara; Rafacho, Marina Bigeli ; Siemann, Maria Eugênia; Candido-Souza, Rosana Maria; Vendramini-Pittoli, Siulan; Tonello, Cristiano ; Maximino, Luciana Paula ; Meroni, Germana; Guion-Almeida, Maria Leine; Opitz, John M.; Richieri-Costa, Antonio
Source: European Journal of Human Genetics. Conference titles: European Society of Human Genetics. Unidades: HRAC, FOB, HRACF
Subjects: FISSURA LÁBIOPALATINA, HIPERTELORISMO, TRIAGEM, GENÉTICA
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ABNT
ZECHI-CEIDE, Roseli Maria et al. MID1 gene variations in a Brazilian cohort with cleft lip with or without palate and ocular hypertelorism: implication for diagnosis. European Journal of Human Genetics. London: Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo. Disponível em: https://repositorio.usp.br/directbitstream/c7d85a5d-6ff4-412a-a203-f85d7c5b68b7/3089184.pdf. Acesso em: 04 nov. 2024. , 2022
APA
Zechi-Ceide, R. M., Kokitsu-Nakata, N. M., Alvarez, C. W., Migliore, C., Rafacho, M. B., Siemann, M. E., et al. (2022). MID1 gene variations in a Brazilian cohort with cleft lip with or without palate and ocular hypertelorism: implication for diagnosis. European Journal of Human Genetics. London: Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo. Recuperado de https://repositorio.usp.br/directbitstream/c7d85a5d-6ff4-412a-a203-f85d7c5b68b7/3089184.pdf
NLM
Zechi-Ceide RM, Kokitsu-Nakata NM, Alvarez CW, Migliore C, Rafacho MB, Siemann ME, Candido-Souza RM, Vendramini-Pittoli S, Tonello C, Maximino LP, Meroni G, Guion-Almeida ML, Opitz JM, Richieri-Costa A. MID1 gene variations in a Brazilian cohort with cleft lip with or without palate and ocular hypertelorism: implication for diagnosis [Internet]. European Journal of Human Genetics. 2022 ; 30 349-350.[citado 2024 nov. 04 ] Available from: https://repositorio.usp.br/directbitstream/c7d85a5d-6ff4-412a-a203-f85d7c5b68b7/3089184.pdf
Vancouver
Zechi-Ceide RM, Kokitsu-Nakata NM, Alvarez CW, Migliore C, Rafacho MB, Siemann ME, Candido-Souza RM, Vendramini-Pittoli S, Tonello C, Maximino LP, Meroni G, Guion-Almeida ML, Opitz JM, Richieri-Costa A. MID1 gene variations in a Brazilian cohort with cleft lip with or without palate and ocular hypertelorism: implication for diagnosis [Internet]. European Journal of Human Genetics. 2022 ; 30 349-350.[citado 2024 nov. 04 ] Available from: https://repositorio.usp.br/directbitstream/c7d85a5d-6ff4-412a-a203-f85d7c5b68b7/3089184.pdf
Artigo de periodico
Craniofacial and airway morphology of individuals with oculoauriculovertebral spectrum (2021)
Parizotto, Julianna Oliveira Lima ; Peixoto, Adriano Porto ; Borsato, Karina Tostes; Bianchi, Jonas ; Pittoli, Siulan Vendramini Paulovich ; Tonello, Cristiano ; Gonçalves, João Roberto
Source: Orthodontics and Craniofacial Research. Unidade: HRAC
Subjects: SÍNDROME DE GOLDENHAR, DESENVOLVIMENTO CRANIOFACIAL, TOMOGRAFIA COMPUTADORIZADA DE EMISSÃO
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ABNT
PARIZOTTO, Julianna Oliveira Lima et al. Craniofacial and airway morphology of individuals with oculoauriculovertebral spectrum. Orthodontics and Craniofacial Research, v. No 2021, n. 4, p. 575-584, 2021Tradução . . Disponível em: https://doi.org/10.1111/ocr.12483. Acesso em: 04 nov. 2024.
APA
Parizotto, J. O. L., Peixoto, A. P., Borsato, K. T., Bianchi, J., Pittoli, S. V. P., Tonello, C., & Gonçalves, J. R. (2021). Craniofacial and airway morphology of individuals with oculoauriculovertebral spectrum. Orthodontics and Craniofacial Research, No 2021( 4), 575-584. doi:10.1111/ocr.12483
NLM
Parizotto JOL, Peixoto AP, Borsato KT, Bianchi J, Pittoli SVP, Tonello C, Gonçalves JR. Craniofacial and airway morphology of individuals with oculoauriculovertebral spectrum [Internet]. Orthodontics and Craniofacial Research. 2021 ; No 2021( 4): 575-584.[citado 2024 nov. 04 ] Available from: https://doi.org/10.1111/ocr.12483
Vancouver
Parizotto JOL, Peixoto AP, Borsato KT, Bianchi J, Pittoli SVP, Tonello C, Gonçalves JR. Craniofacial and airway morphology of individuals with oculoauriculovertebral spectrum [Internet]. Orthodontics and Craniofacial Research. 2021 ; No 2021( 4): 575-584.[citado 2024 nov. 04 ] Available from: https://doi.org/10.1111/ocr.12483
Trabalho de evento-resumo
Morfologia da coluna vertebral de indivíduos com espectro oculoauriculo vertebral (2021)
Ferraz, B. G.; Alonso, Nivaldo ; Brandão, Michele Madeira; Gomes, L. P.; Vendramini-Pittoli, Siulan
Source: Anais. Conference titles: JORMED - Jornada da Medicina USP Bauru. Unidades: FM, HRAC, FOB
Subjects: SÍNDROME DE GOLDENHAR, COLUNA VERTEBRAL, FENÓTIPOS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
FERRAZ, B. G. et al. Morfologia da coluna vertebral de indivíduos com espectro oculoauriculo vertebral. 2021, Anais.. Macaé: CONGRESSE.ME, 2021. Disponível em: https://repositorio.usp.br/directbitstream/b47fde5b-623a-4fd7-a491-af9c0c30e972/3125092.pdf. Acesso em: 04 nov. 2024.
APA
Ferraz, B. G., Alonso, N., Brandão, M. M., Gomes, L. P., & Vendramini-Pittoli, S. (2021). Morfologia da coluna vertebral de indivíduos com espectro oculoauriculo vertebral. In Anais. Macaé: CONGRESSE.ME. Recuperado de https://repositorio.usp.br/directbitstream/b47fde5b-623a-4fd7-a491-af9c0c30e972/3125092.pdf
NLM
Ferraz BG, Alonso N, Brandão MM, Gomes LP, Vendramini-Pittoli S. Morfologia da coluna vertebral de indivíduos com espectro oculoauriculo vertebral [Internet]. Anais. 2021 ;[citado 2024 nov. 04 ] Available from: https://repositorio.usp.br/directbitstream/b47fde5b-623a-4fd7-a491-af9c0c30e972/3125092.pdf
Vancouver
Ferraz BG, Alonso N, Brandão MM, Gomes LP, Vendramini-Pittoli S. Morfologia da coluna vertebral de indivíduos com espectro oculoauriculo vertebral [Internet]. Anais. 2021 ;[citado 2024 nov. 04 ] Available from: https://repositorio.usp.br/directbitstream/b47fde5b-623a-4fd7-a491-af9c0c30e972/3125092.pdf
Artigo de periodico
A novel intronic variant in PIGB in acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects (2021)
Palagano, Eleonora; Gordon, Christopher T; Uva, Paolo ; Strina, Dario ; Dimartino, Clémantine; Villa, Anna; Amiel, Jeanne; Guion-Almeida, Maria Leine; Pittoli, Siulan Vendramini Paulovich ; Nakata, Nancy Mizue Kokitsu ; Zechi-Ceide, Roseli Maria ; Sobacchi, Cristina
Source: Bone. Unidade: HRAC
Subjects: DISOSTOSE MANDIBULOFACIAL, MUTAÇÃO GENÉTICA, FENÓTIPOS, CONVULSÕES
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ABNT
PALAGANO, Eleonora et al. A novel intronic variant in PIGB in acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects. Bone, v. 153, p. 7 , 2021Tradução . . Disponível em: https://doi.org/10.1016/j.bone.2021.116152. Acesso em: 04 nov. 2024.
APA
Palagano, E., Gordon, C. T., Uva, P., Strina, D., Dimartino, C., Villa, A., et al. (2021). A novel intronic variant in PIGB in acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects. Bone, 153, 7 . doi:10.1016/j.bone.2021.116152
NLM
Palagano E, Gordon CT, Uva P, Strina D, Dimartino C, Villa A, Amiel J, Guion-Almeida ML, Pittoli SVP, Nakata NMK, Zechi-Ceide RM, Sobacchi C. A novel intronic variant in PIGB in acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects [Internet]. Bone. 2021 ; 153 7 .[citado 2024 nov. 04 ] Available from: https://doi.org/10.1016/j.bone.2021.116152
Vancouver
Palagano E, Gordon CT, Uva P, Strina D, Dimartino C, Villa A, Amiel J, Guion-Almeida ML, Pittoli SVP, Nakata NMK, Zechi-Ceide RM, Sobacchi C. A novel intronic variant in PIGB in acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects [Internet]. Bone. 2021 ; 153 7 .[citado 2024 nov. 04 ] Available from: https://doi.org/10.1016/j.bone.2021.116152
Trabalho de evento-resumo
Fissura craniofacial complexa na síndrome oculoauriculofrontonasal (2021)
Serigatto, Henrique Regonaschi; Tonello, Cristiano ; Moura, Priscila Padilha; Peixoto, Adriano Porto ; Vendramini-Pittoli, Siulan; Kokitsu-Nakata, Nancy Mizue; Zechi-Ceide, Roseli Maria
Source: Anais. Conference titles: JORMED - Jornada da Medicina USP Bauru. Unidades: HRAC, HRACF
Subjects: CRÂNIO, FACE, TOMOGRAFIA COMPUTADORIZADA POR RAIOS X
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
SERIGATTO, Henrique Regonaschi et al. Fissura craniofacial complexa na síndrome oculoauriculofrontonasal. 2021, Anais.. Macaé: CONGRESSE.ME, 2021. Disponível em: https://repositorio.usp.br/directbitstream/a4e3b218-8714-4bf7-b67b-db14832b88b5/3125711.pdf. Acesso em: 04 nov. 2024.
APA
Serigatto, H. R., Tonello, C., Moura, P. P., Peixoto, A. P., Vendramini-Pittoli, S., Kokitsu-Nakata, N. M., & Zechi-Ceide, R. M. (2021). Fissura craniofacial complexa na síndrome oculoauriculofrontonasal. In Anais. Macaé: CONGRESSE.ME. Recuperado de https://repositorio.usp.br/directbitstream/a4e3b218-8714-4bf7-b67b-db14832b88b5/3125711.pdf
NLM
Serigatto HR, Tonello C, Moura PP, Peixoto AP, Vendramini-Pittoli S, Kokitsu-Nakata NM, Zechi-Ceide RM. Fissura craniofacial complexa na síndrome oculoauriculofrontonasal [Internet]. Anais. 2021 ;[citado 2024 nov. 04 ] Available from: https://repositorio.usp.br/directbitstream/a4e3b218-8714-4bf7-b67b-db14832b88b5/3125711.pdf
Vancouver
Serigatto HR, Tonello C, Moura PP, Peixoto AP, Vendramini-Pittoli S, Kokitsu-Nakata NM, Zechi-Ceide RM. Fissura craniofacial complexa na síndrome oculoauriculofrontonasal [Internet]. Anais. 2021 ;[citado 2024 nov. 04 ] Available from: https://repositorio.usp.br/directbitstream/a4e3b218-8714-4bf7-b67b-db14832b88b5/3125711.pdf
Artigo de periodico
Microphthalmia, linear skin defects, callosal agenesis, and cleft palate in a patient with deletion at Xp22.3p22.2 (2020)
Pittoli, Siulan Vendramini Paulovich ; Souza, Rosana Maria Candido ; Quiezi, Rodrigo Gonçalves; Zechi-Ceide, Roseli Maria ; Nakata, Nancy Mizue Kokitsu ; Jehee, Fernanda Sarquis; Ribeiro-Bicudo, Lucilene Arilho ; FitzPatrick, David R. ; Guion-Almeida, Maria Leine; Richieri-Costa, Antonio
Source: Journal of Pediatric Genetics. Unidades: HRAC, HRACF
Subjects: AGENESIA, FISSURA PALATINA, DELEÇÃO DE GENES
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
PITTOLI, Siulan Vendramini Paulovich et al. Microphthalmia, linear skin defects, callosal agenesis, and cleft palate in a patient with deletion at Xp22.3p22.2. Journal of Pediatric Genetics, v. 9, n. 4, p. 258-262, 2020Tradução . . Disponível em: https://doi.org/10.1055/s-0039-3402047. Acesso em: 04 nov. 2024.
APA
Pittoli, S. V. P., Souza, R. M. C., Quiezi, R. G., Zechi-Ceide, R. M., Nakata, N. M. K., Jehee, F. S., et al. (2020). Microphthalmia, linear skin defects, callosal agenesis, and cleft palate in a patient with deletion at Xp22.3p22.2. Journal of Pediatric Genetics, 9( 4), 258-262. doi:10.1055/s-0039-3402047
NLM
Pittoli SVP, Souza RMC, Quiezi RG, Zechi-Ceide RM, Nakata NMK, Jehee FS, Ribeiro-Bicudo LA, FitzPatrick DR, Guion-Almeida ML, Richieri-Costa A. Microphthalmia, linear skin defects, callosal agenesis, and cleft palate in a patient with deletion at Xp22.3p22.2 [Internet]. Journal of Pediatric Genetics. 2020 ; 9( 4): 258-262.[citado 2024 nov. 04 ] Available from: https://doi.org/10.1055/s-0039-3402047
Vancouver
Pittoli SVP, Souza RMC, Quiezi RG, Zechi-Ceide RM, Nakata NMK, Jehee FS, Ribeiro-Bicudo LA, FitzPatrick DR, Guion-Almeida ML, Richieri-Costa A. Microphthalmia, linear skin defects, callosal agenesis, and cleft palate in a patient with deletion at Xp22.3p22.2 [Internet]. Journal of Pediatric Genetics. 2020 ; 9( 4): 258-262.[citado 2024 nov. 04 ] Available from: https://doi.org/10.1055/s-0039-3402047
Artigo de periodico
Insight into the ontogeny of GnRH neurons from patients born without a nose (2020)
Delaney, Angela; Volochayev, Rita; Meader, Brooke; Lee, Janice; Almpani, Konstantinia; Noukelak, Germaine Y.; Henkind, Jennifer; Chalmers, Laura; Law, Jennifer R.; Williamson, Kathleen A.; Jacobsen, Christina M.; Buitrago, Tatiana Pineda; Perez, Orlando; Cho, Chie-Hee; Kaindl, Angela; Rauch, Anita; Steindl, Katharina; Garcia, Jose Elias; Russell, Bianca E.; Prasad, Rameshwar; Mondal, Uttam K.; Reigstad, Hallvard M.; Clements, Scott; Kim, Susan; Inoue, Kaoru; Arora, Gazal; Salnikov, Kathryn B.; DiOrio, Nicole P.; Prada, Rolando; Capri, Yline; Morioka, Kosuke; Mizota, Michiyo; Zechi-Ceide, Roseli Maria ; Nakata, Nancy Mizue Kokitsu ; Tonello, Cristiano ; Pittoli, Siulan Vendramini Paulovich ; Dalben, Gisele da Silva ; Balasubramanian, Ravikumar; Dwyer, Andrew A.; Seminara, Stephanie B.; Crowley Júnior, William F.; Plummer, Lacey; Hall, Janet E.; Graham Júnior, John M.; Lin, Angela E.; Shaw, Natalie D.
Source: Journal of Clinical Endocrinology and Metabolism. Unidade: HRAC
Subjects: HORMÔNIO LIBERADOR DE GONADOTROFINAS, AGENESIA, NARIZ (ANATOMIA), MALFORMAÇÕES, FENÓTIPOS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
DELANEY, Angela et al. Insight into the ontogeny of GnRH neurons from patients born without a nose. Journal of Clinical Endocrinology and Metabolism, v. 105, n. 5, p. 1538-1551, 2020Tradução . . Disponível em: https://doi.org/10.1210/clinem/dgaa065. Acesso em: 04 nov. 2024.
APA
Delaney, A., Volochayev, R., Meader, B., Lee, J., Almpani, K., Noukelak, G. Y., et al. (2020). Insight into the ontogeny of GnRH neurons from patients born without a nose. Journal of Clinical Endocrinology and Metabolism, 105( 5), 1538-1551. doi:10.1210/clinem/dgaa065
NLM
Delaney A, Volochayev R, Meader B, Lee J, Almpani K, Noukelak GY, Henkind J, Chalmers L, Law JR, Williamson KA, Jacobsen CM, Buitrago TP, Perez O, Cho C-H, Kaindl A, Rauch A, Steindl K, Garcia JE, Russell BE, Prasad R, Mondal UK, Reigstad HM, Clements S, Kim S, Inoue K, Arora G, Salnikov KB, DiOrio NP, Prada R, Capri Y, Morioka K, Mizota M, Zechi-Ceide RM, Nakata NMK, Tonello C, Pittoli SVP, Dalben G da S, Balasubramanian R, Dwyer AA, Seminara SB, Crowley Júnior WF, Plummer L, Hall JE, Graham Júnior JM, Lin AE, Shaw ND. Insight into the ontogeny of GnRH neurons from patients born without a nose [Internet]. Journal of Clinical Endocrinology and Metabolism. 2020 ; 105( 5): 1538-1551.[citado 2024 nov. 04 ] Available from: https://doi.org/10.1210/clinem/dgaa065
Vancouver
Delaney A, Volochayev R, Meader B, Lee J, Almpani K, Noukelak GY, Henkind J, Chalmers L, Law JR, Williamson KA, Jacobsen CM, Buitrago TP, Perez O, Cho C-H, Kaindl A, Rauch A, Steindl K, Garcia JE, Russell BE, Prasad R, Mondal UK, Reigstad HM, Clements S, Kim S, Inoue K, Arora G, Salnikov KB, DiOrio NP, Prada R, Capri Y, Morioka K, Mizota M, Zechi-Ceide RM, Nakata NMK, Tonello C, Pittoli SVP, Dalben G da S, Balasubramanian R, Dwyer AA, Seminara SB, Crowley Júnior WF, Plummer L, Hall JE, Graham Júnior JM, Lin AE, Shaw ND. Insight into the ontogeny of GnRH neurons from patients born without a nose [Internet]. Journal of Clinical Endocrinology and Metabolism. 2020 ; 105( 5): 1538-1551.[citado 2024 nov. 04 ] Available from: https://doi.org/10.1210/clinem/dgaa065
Artigo de periodico
Holoprosencephaly, orofacial cleft, and frontonaso-orbital encephaloceles: genetic evaluation of a possible new syndrome (2019)
Richieri-Costa, Antonio ; Zechi-Ceide, Roseli Maria ; Souza, Rosana Maria Candido ; Monteiro, Rejane Alves de Carvalho; Tonello, Cristiano; Freitas, Mariana L. de; Nakata, Nancy Mizue Kokitsu ; Pittoli, Siulan Vendramini Paulovich ; Mazzeu, Juliana F; Overes, Madelief; Ali-Amin, Roza; van Slegtenhorst, Marjon; Hoefsloot, Lies H; Jehee, Fernanda S
Source: American Journal of Medical Genetics. Unidades: HRAC, HRACF
Subjects: GENÉTICA, HOLOPROSENCEFALIA, FISSURA LÁBIOPALATINA, ANORMALIDADES CRANIOFACIAIS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
RICHIERI-COSTA, Antonio et al. Holoprosencephaly, orofacial cleft, and frontonaso-orbital encephaloceles: genetic evaluation of a possible new syndrome. American Journal of Medical Genetics, v. No 2019, n. 11, p. 2170-2177, 2019Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.61305. Acesso em: 04 nov. 2024.
APA
Richieri-Costa, A., Zechi-Ceide, R. M., Souza, R. M. C., Monteiro, R. A. de C., Tonello, C., Freitas, M. L. de, et al. (2019). Holoprosencephaly, orofacial cleft, and frontonaso-orbital encephaloceles: genetic evaluation of a possible new syndrome. American Journal of Medical Genetics, No 2019( 11), 2170-2177. doi:10.1002/ajmg.a.61305
NLM
Richieri-Costa A, Zechi-Ceide RM, Souza RMC, Monteiro RA de C, Tonello C, Freitas ML de, Nakata NMK, Pittoli SVP, Mazzeu JF, Overes M, Ali-Amin R, van Slegtenhorst M, Hoefsloot LH, Jehee FS. Holoprosencephaly, orofacial cleft, and frontonaso-orbital encephaloceles: genetic evaluation of a possible new syndrome [Internet]. American Journal of Medical Genetics. 2019 ; No 2019( 11): 2170-2177.[citado 2024 nov. 04 ] Available from: https://doi.org/10.1002/ajmg.a.61305
Vancouver
Richieri-Costa A, Zechi-Ceide RM, Souza RMC, Monteiro RA de C, Tonello C, Freitas ML de, Nakata NMK, Pittoli SVP, Mazzeu JF, Overes M, Ali-Amin R, van Slegtenhorst M, Hoefsloot LH, Jehee FS. Holoprosencephaly, orofacial cleft, and frontonaso-orbital encephaloceles: genetic evaluation of a possible new syndrome [Internet]. American Journal of Medical Genetics. 2019 ; No 2019( 11): 2170-2177.[citado 2024 nov. 04 ] Available from: https://doi.org/10.1002/ajmg.a.61305
Trabalho de evento-resumo
Unique phenotype in a Brazilian girl with syndromic Robin sequence and a 5.6 mb deletion in xp11.4p11.3 (2019)
Nakata, Nancy Mizue Kokitsu ; Jehee, F; Sandri, R; Pittoli, Siulan Vendramini Paulovich ; Alvarez, Camila Wenceslau ; Monteiro, R; Mazzeu, J; Zechi-Ceide, Roseli Maria ; Richieri-Costa, Antonio
Source: Utrecht: European Cleft Palate Craniofacial Association, 2019. Conference titles: European Cleft Palate Craniofacial Association Congress. Unidade: HRAC
Subjects: FENÓTIPOS, SÍNDROME DE PIERRE ROBIN, DELEÇÃO DE GENES
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
NAKATA, Nancy Mizue Kokitsu et al. Unique phenotype in a Brazilian girl with syndromic Robin sequence and a 5.6 mb deletion in xp11.4p11.3. 2019, Anais.. Utrecht: Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, 2019. Disponível em: https://repositorio.usp.br/directbitstream/2f17e911-522c-4ebf-b07d-80b7f922a17c/2963227.pdf. Acesso em: 04 nov. 2024.
APA
Nakata, N. M. K., Jehee, F., Sandri, R., Pittoli, S. V. P., Alvarez, C. W., Monteiro, R., et al. (2019). Unique phenotype in a Brazilian girl with syndromic Robin sequence and a 5.6 mb deletion in xp11.4p11.3. In Utrecht: European Cleft Palate Craniofacial Association, 2019. Utrecht: Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo. Recuperado de https://repositorio.usp.br/directbitstream/2f17e911-522c-4ebf-b07d-80b7f922a17c/2963227.pdf
NLM
Nakata NMK, Jehee F, Sandri R, Pittoli SVP, Alvarez CW, Monteiro R, Mazzeu J, Zechi-Ceide RM, Richieri-Costa A. Unique phenotype in a Brazilian girl with syndromic Robin sequence and a 5.6 mb deletion in xp11.4p11.3 [Internet]. Utrecht: European Cleft Palate Craniofacial Association, 2019. 2019 ;[citado 2024 nov. 04 ] Available from: https://repositorio.usp.br/directbitstream/2f17e911-522c-4ebf-b07d-80b7f922a17c/2963227.pdf
Vancouver
Nakata NMK, Jehee F, Sandri R, Pittoli SVP, Alvarez CW, Monteiro R, Mazzeu J, Zechi-Ceide RM, Richieri-Costa A. Unique phenotype in a Brazilian girl with syndromic Robin sequence and a 5.6 mb deletion in xp11.4p11.3 [Internet]. Utrecht: European Cleft Palate Craniofacial Association, 2019. 2019 ;[citado 2024 nov. 04 ] Available from: https://repositorio.usp.br/directbitstream/2f17e911-522c-4ebf-b07d-80b7f922a17c/2963227.pdf
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
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
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: 04 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. 04 ] 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. 04 ] Available from: https://doi.org/10.1038/s41431-017-0010-5
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
Source: 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. 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: 04 nov. 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 nov. 04 ] 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 nov. 04 ] Available from: https://doi.org/10.1002/ajmg.a.38101
Artigo de periodico
Multisystem involvement in a patient with a PTCH1 mutation: clinical and imaging findings (2017)
Richieri-Costa, Antonio; Pittoli, Siulan Vendramini Paulovich; Nakata, Nancy Mizue Kokitsu; Ceide, Roseli Maria Zechi; Alvarez, Camila Wenceslau; Bicudo, Lucilene Arilho Ribeiro
Source: Journal of Pediatric Genetics. Unidade: HRAC
Subjects: HOLOPROSENCEFALIA, MUTAÇÃO GENÉTICA, FENÓTIPOS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
RICHIERI-COSTA, Antonio et al. Multisystem involvement in a patient with a PTCH1 mutation: clinical and imaging findings. Journal of Pediatric Genetics, v. 6, n. 2, p. 103-106, 2017Tradução . . Disponível em: https://doi.org/10.1055/s-0036-1588028. Acesso em: 04 nov. 2024.
APA
Richieri-Costa, A., Pittoli, S. V. P., Nakata, N. M. K., Ceide, R. M. Z., Alvarez, C. W., & Bicudo, L. A. R. (2017). Multisystem involvement in a patient with a PTCH1 mutation: clinical and imaging findings. Journal of Pediatric Genetics, 6( 2), 103-106. doi:10.1055/s-0036-1588028
NLM
Richieri-Costa A, Pittoli SVP, Nakata NMK, Ceide RMZ, Alvarez CW, Bicudo LAR. Multisystem involvement in a patient with a PTCH1 mutation: clinical and imaging findings [Internet]. Journal of Pediatric Genetics. 2017 ; 6( 2): 103-106.[citado 2024 nov. 04 ] Available from: https://doi.org/10.1055/s-0036-1588028
Vancouver
Richieri-Costa A, Pittoli SVP, Nakata NMK, Ceide RMZ, Alvarez CW, Bicudo LAR. Multisystem involvement in a patient with a PTCH1 mutation: clinical and imaging findings [Internet]. Journal of Pediatric Genetics. 2017 ; 6( 2): 103-106.[citado 2024 nov. 04 ] Available from: https://doi.org/10.1055/s-0036-1588028
Trabalho de evento
Atypical phenotype of Opitz GBBB syndrome caused by a novel mid1 variation (2017)
Alvarez, Camila Wenceslau; Ceide, Roseli Maria Zechi; Nakata, Nancy Mizue Kokitsu; Pittoli, Siulan Vendramini Paulovich; Siemann, Maria Eugênia; Migliore, Chiara; Meroni, Germana; Richieri-Costa, Antonio
Source: Anais. Conference titles: Simpósio Internacional de Fissuras Orofaciais e Anomalias Relacionadas. Unidade: HRAC
Subjects: ANORMALIDADES CRANIOFACIAIS, EVOLUÇÃO FENOTÍPICA, FISSURA LÁBIOPALATINA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
ALVAREZ, Camila Wenceslau et al. Atypical phenotype of Opitz GBBB syndrome caused by a novel mid1 variation. 2017, Anais.. Bauru: Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, 2017. Disponível em: https://repositorio.usp.br/directbitstream/2844e2cb-fa32-4006-bf31-4841d02ceecb/2938516.pdf. Acesso em: 04 nov. 2024.
APA
Alvarez, C. W., Ceide, R. M. Z., Nakata, N. M. K., Pittoli, S. V. P., Siemann, M. E., Migliore, C., et al. (2017). Atypical phenotype of Opitz GBBB syndrome caused by a novel mid1 variation. In Anais. Bauru: Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo. Recuperado de https://repositorio.usp.br/directbitstream/2844e2cb-fa32-4006-bf31-4841d02ceecb/2938516.pdf
NLM
Alvarez CW, Ceide RMZ, Nakata NMK, Pittoli SVP, Siemann ME, Migliore C, Meroni G, Richieri-Costa A. Atypical phenotype of Opitz GBBB syndrome caused by a novel mid1 variation [Internet]. Anais. 2017 ;[citado 2024 nov. 04 ] Available from: https://repositorio.usp.br/directbitstream/2844e2cb-fa32-4006-bf31-4841d02ceecb/2938516.pdf
Vancouver
Alvarez CW, Ceide RMZ, Nakata NMK, Pittoli SVP, Siemann ME, Migliore C, Meroni G, Richieri-Costa A. Atypical phenotype of Opitz GBBB syndrome caused by a novel mid1 variation [Internet]. Anais. 2017 ;[citado 2024 nov. 04 ] Available from: https://repositorio.usp.br/directbitstream/2844e2cb-fa32-4006-bf31-4841d02ceecb/2938516.pdf
Trabalho de evento
Auricular malformation and hearing loss in oculoauriculo vertebral spectrum (2017)
Alves, Bruna Tozzetti; Antoneli, Melissa Zattoni; Tonello, Cristiano; Lourençone, Luiz Fernando Manzoni ; Sassi, Tyuana Sandim da Silveira; Pittoli, Siulan Vendramini Paulovich; Feniman, Mariza Ribeiro
Source: Anais. Conference titles: Simpósio Internacional de Fissuras Orofaciais e Anomalias Relacionadas. Unidades: HRAC, FOB
Subjects: ANORMALIDADES CRANIOFACIAIS, MALFORMAÇÕES, ORELHA EXTERNA, PERDA AUDITIVA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
ALVES, Bruna Tozzetti et al. Auricular malformation and hearing loss in oculoauriculo vertebral spectrum. 2017, Anais.. Bauru: Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, 2017. Disponível em: https://repositorio.usp.br/directbitstream/aa39c75f-31a6-4b3e-9684-286c7fd75082/2938905.pdf. Acesso em: 04 nov. 2024.
APA
Alves, B. T., Antoneli, M. Z., Tonello, C., Lourençone, L. F. M., Sassi, T. S. da S., Pittoli, S. V. P., & Feniman, M. R. (2017). Auricular malformation and hearing loss in oculoauriculo vertebral spectrum. In Anais. Bauru: Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo. Recuperado de https://repositorio.usp.br/directbitstream/aa39c75f-31a6-4b3e-9684-286c7fd75082/2938905.pdf
NLM
Alves BT, Antoneli MZ, Tonello C, Lourençone LFM, Sassi TS da S, Pittoli SVP, Feniman MR. Auricular malformation and hearing loss in oculoauriculo vertebral spectrum [Internet]. Anais. 2017 ;[citado 2024 nov. 04 ] Available from: https://repositorio.usp.br/directbitstream/aa39c75f-31a6-4b3e-9684-286c7fd75082/2938905.pdf
Vancouver
Alves BT, Antoneli MZ, Tonello C, Lourençone LFM, Sassi TS da S, Pittoli SVP, Feniman MR. Auricular malformation and hearing loss in oculoauriculo vertebral spectrum [Internet]. Anais. 2017 ;[citado 2024 nov. 04 ] Available from: https://repositorio.usp.br/directbitstream/aa39c75f-31a6-4b3e-9684-286c7fd75082/2938905.pdf
Artigo de periodico
Mandibulofacial dysostosis Bauru type: refining the phenotype (2017)
Moura, Priscila P.; Kokitsu-Nakata, Nancy M.; Yatabe, Marília S.; Vendramini-Pittoli, Siulan; Hori, Pedro H.; Guion-Almeida, Maria L.; Garib, Daniela Gamba; Richieri-Costa, Antonio; Zechi-Ceide, Roseli M.
Source: American Journal of Medical Genetics - Part A. Unidades: HRAC, FOB
Subjects: TOMOGRAFIA COMPUTADORIZADA POR RAIOS X, ANOMALIA CRANIOFACIAL, DISOSTOSE MANDIBULOFACIAL, LÁBIO FISSURADO
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
MOURA, Priscila P. et al. Mandibulofacial dysostosis Bauru type: refining the phenotype. American Journal of Medical Genetics - Part A, v. 173, n. 7, p. 1747–1753, 2017Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.38257. Acesso em: 04 nov. 2024.
APA
Moura, P. P., Kokitsu-Nakata, N. M., Yatabe, M. S., Vendramini-Pittoli, S., Hori, P. H., Guion-Almeida, M. L., et al. (2017). Mandibulofacial dysostosis Bauru type: refining the phenotype. American Journal of Medical Genetics - Part A, 173( 7), 1747–1753. doi:10.1002/ajmg.a.38257
NLM
Moura PP, Kokitsu-Nakata NM, Yatabe MS, Vendramini-Pittoli S, Hori PH, Guion-Almeida ML, Garib DG, Richieri-Costa A, Zechi-Ceide RM. Mandibulofacial dysostosis Bauru type: refining the phenotype [Internet]. American Journal of Medical Genetics - Part A. 2017 ; 173( 7): 1747–1753.[citado 2024 nov. 04 ] Available from: https://doi.org/10.1002/ajmg.a.38257
Vancouver
Moura PP, Kokitsu-Nakata NM, Yatabe MS, Vendramini-Pittoli S, Hori PH, Guion-Almeida ML, Garib DG, Richieri-Costa A, Zechi-Ceide RM. Mandibulofacial dysostosis Bauru type: refining the phenotype [Internet]. American Journal of Medical Genetics - Part A. 2017 ; 173( 7): 1747–1753.[citado 2024 nov. 04 ] Available from: https://doi.org/10.1002/ajmg.a.38257

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