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Artigo de periodico
Imagawa-Matsumoto syndrome: SUZ12-related overgrowth disorder (2023)
Imagawa, Eri ; Seyama, Rie ; Aoi, Hiromi; Uchiyama, Yuri ; Marcarini, Bruno Guimaraes; Furquim, Isabel; Honjo, Rachel Sayuri ; Bertola, Débora Romeo ; Kim, Chong Ae ; Matsumoto, Naomichi
Source: Clinical genetics. Unidade: FM
Subjects: DESENVOLVIMENTO SUSTENTÁVEL, DESENVOLVIMENTO INFANTIL, PSICOMOTRICIDADE
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
IMAGAWA, Eri et al. Imagawa-Matsumoto syndrome: SUZ12-related overgrowth disorder. Clinical genetics, v. 103, n. 4, p. 383-391, 2023Tradução . . Disponível em: https://observatorio.fm.usp.br/handle/OPI/53027. Acesso em: 15 nov. 2024.
APA
Imagawa, E., Seyama, R., Aoi, H., Uchiyama, Y., Marcarini, B. G., Furquim, I., et al. (2023). Imagawa-Matsumoto syndrome: SUZ12-related overgrowth disorder. Clinical genetics, 103( 4), 383-391. doi:10.1111/cge.14296
NLM
Imagawa E, Seyama R, Aoi H, Uchiyama Y, Marcarini BG, Furquim I, Honjo RS, Bertola DR, Kim CA, Matsumoto N. Imagawa-Matsumoto syndrome: SUZ12-related overgrowth disorder [Internet]. Clinical genetics. 2023 ; 103( 4): 383-391.[citado 2024 nov. 15 ] Available from: https://observatorio.fm.usp.br/handle/OPI/53027
Vancouver
Imagawa E, Seyama R, Aoi H, Uchiyama Y, Marcarini BG, Furquim I, Honjo RS, Bertola DR, Kim CA, Matsumoto N. Imagawa-Matsumoto syndrome: SUZ12-related overgrowth disorder [Internet]. Clinical genetics. 2023 ; 103( 4): 383-391.[citado 2024 nov. 15 ] Available from: https://observatorio.fm.usp.br/handle/OPI/53027
Artigo de periodico-carta/editorial
Vertebral segmentation defects in a Brazilian cohort. [Carta]: clinical and molecular analysis focused on spondylocostal dysostosis (2022)
Linnenkamp, Bianca; Girardi, Raissa; Rocha, Leticia; Yamamoto, Guilherme; Ceroni, Jose Ricardo; Mendes, Antonia Elisabeth Cristhina; Honjo, Rachel; Oliveira, Luiz Antonio; Amemiya, Raphael Bruno; Kim, Chong Ae
Source: Clinical genetics. Unidade: FM
Subjects: ESTUDOS DE COORTES, BRASIL
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
LINNENKAMP, Bianca et al. Vertebral segmentation defects in a Brazilian cohort. [Carta]: clinical and molecular analysis focused on spondylocostal dysostosis. Clinical genetics. Hoboken: Faculdade de Medicina, Universidade de São Paulo. Disponível em: https://doi.org/10.1111/cge.14118. Acesso em: 15 nov. 2024. , 2022
APA
Linnenkamp, B., Girardi, R., Rocha, L., Yamamoto, G., Ceroni, J. R., Mendes, A. E. C., et al. (2022). Vertebral segmentation defects in a Brazilian cohort. [Carta]: clinical and molecular analysis focused on spondylocostal dysostosis. Clinical genetics. Hoboken: Faculdade de Medicina, Universidade de São Paulo. doi:10.1111/cge.14118
NLM
Linnenkamp B, Girardi R, Rocha L, Yamamoto G, Ceroni JR, Mendes AEC, Honjo R, Oliveira LA, Amemiya RB, Kim CA. Vertebral segmentation defects in a Brazilian cohort. [Carta]: clinical and molecular analysis focused on spondylocostal dysostosis [Internet]. Clinical genetics. 2022 ; 101( 4): 476-478.[citado 2024 nov. 15 ] Available from: https://doi.org/10.1111/cge.14118
Vancouver
Linnenkamp B, Girardi R, Rocha L, Yamamoto G, Ceroni JR, Mendes AEC, Honjo R, Oliveira LA, Amemiya RB, Kim CA. Vertebral segmentation defects in a Brazilian cohort. [Carta]: clinical and molecular analysis focused on spondylocostal dysostosis [Internet]. Clinical genetics. 2022 ; 101( 4): 476-478.[citado 2024 nov. 15 ] Available from: https://doi.org/10.1111/cge.14118
Artigo de periodico
Evaluation of SHOX defects in the era of next-generation sequencing (2019)
Funari, Mariana F. A; Barros, Juliana S. de; Santana, Lucas S; Lerario, Antonio M; Freire, Bruna L; Homma, Thais K; Vasques, Gabriela A; Mendonça, Berenice Bilharinho de ; Nishi, Mirian Y; Jorge, Alexander Augusto de Lima
Source: Clinical genetics. Unidade: FM
Subjects: GENES HOMEOBOX, MUTAÇÃO, INSUFICIÊNCIA DE CRESCIMENTO, GENÔMICA, SEQUENCIAMENTO GENÉTICO
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ABNT
FUNARI, Mariana F. A et al. Evaluation of SHOX defects in the era of next-generation sequencing. Clinical genetics, v. 96, n. 3, p. 261-265, 2019Tradução . . Disponível em: https://doi.org/10.1111/cge.13587. Acesso em: 15 nov. 2024.
APA
Funari, M. F. A., Barros, J. S. de, Santana, L. S., Lerario, A. M., Freire, B. L., Homma, T. K., et al. (2019). Evaluation of SHOX defects in the era of next-generation sequencing. Clinical genetics, 96( 3), 261-265. doi:10.1111/cge.13587
NLM
Funari MFA, Barros JS de, Santana LS, Lerario AM, Freire BL, Homma TK, Vasques GA, Mendonça BB de, Nishi MY, Jorge AA de L. Evaluation of SHOX defects in the era of next-generation sequencing [Internet]. Clinical genetics. 2019 ; 96( 3): 261-265.[citado 2024 nov. 15 ] Available from: https://doi.org/10.1111/cge.13587
Vancouver
Funari MFA, Barros JS de, Santana LS, Lerario AM, Freire BL, Homma TK, Vasques GA, Mendonça BB de, Nishi MY, Jorge AA de L. Evaluation of SHOX defects in the era of next-generation sequencing [Internet]. Clinical genetics. 2019 ; 96( 3): 261-265.[citado 2024 nov. 15 ] Available from: https://doi.org/10.1111/cge.13587
Artigo de periodico
Clinicogenetic lessons from 370 patients with autosomal recessive limb-girdle muscular dystrophy (2019)
Winckler, Pablo B; Silva, Andre M. S. da; Coimbra-Neto, Antonio R; Carvalho, Elmano; Cavalcanti, Eduardo B. U; Sobreira, Claudia F. R; Marrone, Carlo D; Machado-costa, Marcela C; Reed, Umbertina Conti ; Zanoteli, Edmar
Source: Clinical genetics. Unidade: FM
Subjects: DISTROFIA MUSCULAR, DIAGNÓSTICO DIFERENCIAL, GENÓTIPOS, FENÓTIPOS, PROGNÓSTICO
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
WINCKLER, Pablo B et al. Clinicogenetic lessons from 370 patients with autosomal recessive limb-girdle muscular dystrophy. Clinical genetics, v. 96, n. 4, p. 341-353, 2019Tradução . . Disponível em: https://doi.org/10.1111/cge.13597. Acesso em: 15 nov. 2024.
APA
Winckler, P. B., Silva, A. M. S. da, Coimbra-Neto, A. R., Carvalho, E., Cavalcanti, E. B. U., Sobreira, C. F. R., et al. (2019). Clinicogenetic lessons from 370 patients with autosomal recessive limb-girdle muscular dystrophy. Clinical genetics, 96( 4), 341-353. doi:10.1111/cge.13597
NLM
Winckler PB, Silva AMS da, Coimbra-Neto AR, Carvalho E, Cavalcanti EBU, Sobreira CFR, Marrone CD, Machado-costa MC, Reed UC, Zanoteli E. Clinicogenetic lessons from 370 patients with autosomal recessive limb-girdle muscular dystrophy [Internet]. Clinical genetics. 2019 ; 96( 4): 341-353.[citado 2024 nov. 15 ] Available from: https://doi.org/10.1111/cge.13597
Vancouver
Winckler PB, Silva AMS da, Coimbra-Neto AR, Carvalho E, Cavalcanti EBU, Sobreira CFR, Marrone CD, Machado-costa MC, Reed UC, Zanoteli E. Clinicogenetic lessons from 370 patients with autosomal recessive limb-girdle muscular dystrophy [Internet]. Clinical genetics. 2019 ; 96( 4): 341-353.[citado 2024 nov. 15 ] Available from: https://doi.org/10.1111/cge.13597
Artigo de periodico
A 46,XX testicular disorder of sex development caused by a Wilms' tumour Factor-1 (WT1) pathogenic variant (2019)
Gomes, Nathalia L.; Mendonça, Berenice Bilharinho de
Source: Clinical genetics. Unidade: FM
Subjects: ANORMALIDADES UROGENITAIS, GENES SUPRESSORES DE TUMOR, NEOPLASIAS RENAIS, MUTAÇÃO GENÉTICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
GOMES, Nathalia L. e MENDONÇA, Berenice Bilharinho de. A 46,XX testicular disorder of sex development caused by a Wilms' tumour Factor-1 (WT1) pathogenic variant. Clinical genetics, v. 95, n. 1, p. 172-176, 2019Tradução . . Disponível em: https://doi.org/10.1111/cge.13459. Acesso em: 15 nov. 2024.
APA
Gomes, N. L., & Mendonça, B. B. de. (2019). A 46,XX testicular disorder of sex development caused by a Wilms' tumour Factor-1 (WT1) pathogenic variant. Clinical genetics, 95( 1), 172-176. doi:10.1111/cge.13459
NLM
Gomes NL, Mendonça BB de. A 46,XX testicular disorder of sex development caused by a Wilms' tumour Factor-1 (WT1) pathogenic variant [Internet]. Clinical genetics. 2019 ; 95( 1): 172-176.[citado 2024 nov. 15 ] Available from: https://doi.org/10.1111/cge.13459
Vancouver
Gomes NL, Mendonça BB de. A 46,XX testicular disorder of sex development caused by a Wilms' tumour Factor-1 (WT1) pathogenic variant [Internet]. Clinical genetics. 2019 ; 95( 1): 172-176.[citado 2024 nov. 15 ] Available from: https://doi.org/10.1111/cge.13459
Artigo de periodico
Identification of the first homozygous 1-bp deletion in GDF9 gene leading to primary ovarian insufficiency by using targeted massively parallel sequencing (2018)
Franca, M. M.; Funari, M. F. A.; Nishi, M. Y.; Narcizo, A. M.; Domenice, S.; Costa, E. M. F.; Lerario, A. M; Mendonça, Berenice Bilharinho de
Source: Clinical genetics. Unidade: FM
Subjects: SEQUENCIAMENTO GENÉTICO, DOENÇAS GENÉTICAS, BRASILEIROS, MUTAÇÃO GENÉTICA, INFERTILIDADE FEMININA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
FRANCA, M. M. et al. Identification of the first homozygous 1-bp deletion in GDF9 gene leading to primary ovarian insufficiency by using targeted massively parallel sequencing. Clinical genetics, v. 93, n. 2, p. 408-411, 2018Tradução . . Disponível em: https://doi.org/10.1111/cge.13156. Acesso em: 15 nov. 2024.
APA
Franca, M. M., Funari, M. F. A., Nishi, M. Y., Narcizo, A. M., Domenice, S., Costa, E. M. F., et al. (2018). Identification of the first homozygous 1-bp deletion in GDF9 gene leading to primary ovarian insufficiency by using targeted massively parallel sequencing. Clinical genetics, 93( 2), 408-411. doi:10.1111/cge.13156
NLM
Franca MM, Funari MFA, Nishi MY, Narcizo AM, Domenice S, Costa EMF, Lerario AM, Mendonça BB de. Identification of the first homozygous 1-bp deletion in GDF9 gene leading to primary ovarian insufficiency by using targeted massively parallel sequencing [Internet]. Clinical genetics. 2018 ; 93( 2): 408-411.[citado 2024 nov. 15 ] Available from: https://doi.org/10.1111/cge.13156
Vancouver
Franca MM, Funari MFA, Nishi MY, Narcizo AM, Domenice S, Costa EMF, Lerario AM, Mendonça BB de. Identification of the first homozygous 1-bp deletion in GDF9 gene leading to primary ovarian insufficiency by using targeted massively parallel sequencing [Internet]. Clinical genetics. 2018 ; 93( 2): 408-411.[citado 2024 nov. 15 ] Available from: https://doi.org/10.1111/cge.13156
Artigo de periodico
PDX1-MODY and dorsal pancreatic agenesis: New phenotype of a rare disease (2018)
Caetano, L. A.; Rocha, Manoel de Souza; Jorge, Alexander Augusto de Lima
Source: Clinical genetics. Unidade: FM
Subjects: DIABETES MELLITUS, TOMOGRAFIA COMPUTADORIZADA DE EMISSÃO, AGENESIA, PÂNCREAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
CAETANO, L. A. e ROCHA, Manoel de Souza e JORGE, Alexander Augusto de Lima. PDX1-MODY and dorsal pancreatic agenesis: New phenotype of a rare disease. Clinical genetics, v. 93, n. 2, p. 382-386, 2018Tradução . . Disponível em: https://doi.org/10.1111/cge.13044. Acesso em: 15 nov. 2024.
APA
Caetano, L. A., Rocha, M. de S., & Jorge, A. A. de L. (2018). PDX1-MODY and dorsal pancreatic agenesis: New phenotype of a rare disease. Clinical genetics, 93( 2), 382-386. doi:10.1111/cge.13044
NLM
Caetano LA, Rocha M de S, Jorge AA de L. PDX1-MODY and dorsal pancreatic agenesis: New phenotype of a rare disease [Internet]. Clinical genetics. 2018 ; 93( 2): 382-386.[citado 2024 nov. 15 ] Available from: https://doi.org/10.1111/cge.13044
Vancouver
Caetano LA, Rocha M de S, Jorge AA de L. PDX1-MODY and dorsal pancreatic agenesis: New phenotype of a rare disease [Internet]. Clinical genetics. 2018 ; 93( 2): 382-386.[citado 2024 nov. 15 ] Available from: https://doi.org/10.1111/cge.13044
Artigo de periodico-carta/editorial
Androgen receptor mRNA analysis from whole blood [Carta]: a low-cost strategy for detection of androgen receptor gene splicing defects (2018)
Silva, Juliana M; Mendonça, Berenice Bilharinho de; Batista, Rafael Loch; Rodrigues, Andresa de Santi; Nishi, Mirian Y; Costa, Elaine M. F; Domenice, Sorahia; Carvalho, Luciani R. S
Source: Clinical genetics. Unidade: FM
Subjects: RECEPTORES ANDROGÊNICOS, MICRORNAS, CUSTOS DOS CUIDADOS DE SAÚDE, SANGUE
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
SILVA, Juliana M et al. Androgen receptor mRNA analysis from whole blood [Carta]: a low-cost strategy for detection of androgen receptor gene splicing defects. Clinical genetics. Hoboken: Faculdade de Medicina, Universidade de São Paulo. Disponível em: https://doi.org/10.1111/cge.13437. Acesso em: 15 nov. 2024. , 2018
APA
Silva, J. M., Mendonça, B. B. de, Batista, R. L., Rodrigues, A. de S., Nishi, M. Y., Costa, E. M. F., et al. (2018). Androgen receptor mRNA analysis from whole blood [Carta]: a low-cost strategy for detection of androgen receptor gene splicing defects. Clinical genetics. Hoboken: Faculdade de Medicina, Universidade de São Paulo. doi:10.1111/cge.13437
NLM
Silva JM, Mendonça BB de, Batista RL, Rodrigues A de S, Nishi MY, Costa EMF, Domenice S, Carvalho LRS. Androgen receptor mRNA analysis from whole blood [Carta]: a low-cost strategy for detection of androgen receptor gene splicing defects [Internet]. Clinical genetics. 2018 ; 94( 5): 489-490.[citado 2024 nov. 15 ] Available from: https://doi.org/10.1111/cge.13437
Vancouver
Silva JM, Mendonça BB de, Batista RL, Rodrigues A de S, Nishi MY, Costa EMF, Domenice S, Carvalho LRS. Androgen receptor mRNA analysis from whole blood [Carta]: a low-cost strategy for detection of androgen receptor gene splicing defects [Internet]. Clinical genetics. 2018 ; 94( 5): 489-490.[citado 2024 nov. 15 ] Available from: https://doi.org/10.1111/cge.13437
Artigo de periodico
Recurrent 22q11.2 deletion in a sibship suggestive of parental germline mosaicism in velocardiofacial syndrome (2002)
Sandrin Garcia, P; Macedo, C; Martelli, Lúcia Regina; Ramos, Ester Silveira; Guion Almeida, Maria Leine; Richieri Costa, Antônio; Passos, Geraldo Aleixo Silva
Source: Clinical genetics. Unidades: FMRP, HRAC, FORP
Subjects: GENÉTICA, DNA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
SANDRIN GARCIA, P et al. Recurrent 22q11.2 deletion in a sibship suggestive of parental germline mosaicism in velocardiofacial syndrome. Clinical genetics, v. 61, n. 5, p. 380-383, 2002Tradução . . Disponível em: https://doi.org/10.1034/j.1399-0004.2002.610511.x. Acesso em: 15 nov. 2024.
APA
Sandrin Garcia, P., Macedo, C., Martelli, L. R., Ramos, E. S., Guion Almeida, M. L., Richieri Costa, A., & Passos, G. A. S. (2002). Recurrent 22q11.2 deletion in a sibship suggestive of parental germline mosaicism in velocardiofacial syndrome. Clinical genetics, 61( 5), 380-383. doi:10.1034/j.1399-0004.2002.610511.x
NLM
Sandrin Garcia P, Macedo C, Martelli LR, Ramos ES, Guion Almeida ML, Richieri Costa A, Passos GAS. Recurrent 22q11.2 deletion in a sibship suggestive of parental germline mosaicism in velocardiofacial syndrome [Internet]. Clinical genetics. 2002 ; 61( 5): 380-383.[citado 2024 nov. 15 ] Available from: https://doi.org/10.1034/j.1399-0004.2002.610511.x
Vancouver
Sandrin Garcia P, Macedo C, Martelli LR, Ramos ES, Guion Almeida ML, Richieri Costa A, Passos GAS. Recurrent 22q11.2 deletion in a sibship suggestive of parental germline mosaicism in velocardiofacial syndrome [Internet]. Clinical genetics. 2002 ; 61( 5): 380-383.[citado 2024 nov. 15 ] Available from: https://doi.org/10.1034/j.1399-0004.2002.610511.x

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