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Artigo de periodico
Contribution of Clinical and Genetic Approaches for Diagnosing 209 Index Cases With 46,XY Differences of Sex Development (2022)
Gomes, Nathalia Lisboa; Batista, Rafael Loch; Nishi, Mirian Y.; Lerario, Antonio Marcondes; Silva, Thatiana E.; Narcizo, Amanda de Moraes; Benedetti, Anna Flavia Figueredo; Funari, Mariana Ferreira de Assis; Faria Junior, Jose Antonio; Moraes, Daniela Rodrigues; Montenegro, Luciana Ribeiro; Jorge, Alexander Augusto de Lima ; Mendonca, Berenice Bilharinho de
Source: Journal of clinical endocrinology & metabolism. Unidade: FM
Subjects: CRIANÇAS, SINAIS E SINTOMAS, DOENÇAS GENÉTICAS, DIAGNÓSTICO POR IMAGEM
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ABNT
GOMES, Nathalia Lisboa et al. Contribution of Clinical and Genetic Approaches for Diagnosing 209 Index Cases With 46,XY Differences of Sex Development. Journal of clinical endocrinology & metabolism, v. 107, n. 5, p. E1797-E1806, 2022Tradução . . Disponível em: https://doi.org/10.1210/clinem/dgac064. Acesso em: 02 jul. 2024.
APA
Gomes, N. L., Batista, R. L., Nishi, M. Y., Lerario, A. M., Silva, T. E., Narcizo, A. de M., et al. (2022). Contribution of Clinical and Genetic Approaches for Diagnosing 209 Index Cases With 46,XY Differences of Sex Development. Journal of clinical endocrinology & metabolism, 107( 5), E1797-E1806. doi:10.1210/clinem/dgac064
NLM
Gomes NL, Batista RL, Nishi MY, Lerario AM, Silva TE, Narcizo A de M, Benedetti AFF, Funari MF de A, Faria Junior JA, Moraes DR, Montenegro LR, Jorge AA de L, Mendonca BB de. Contribution of Clinical and Genetic Approaches for Diagnosing 209 Index Cases With 46,XY Differences of Sex Development [Internet]. Journal of clinical endocrinology & metabolism. 2022 ; 107( 5): E1797-E1806.[citado 2024 jul. 02 ] Available from: https://doi.org/10.1210/clinem/dgac064
Vancouver
Gomes NL, Batista RL, Nishi MY, Lerario AM, Silva TE, Narcizo A de M, Benedetti AFF, Funari MF de A, Faria Junior JA, Moraes DR, Montenegro LR, Jorge AA de L, Mendonca BB de. Contribution of Clinical and Genetic Approaches for Diagnosing 209 Index Cases With 46,XY Differences of Sex Development [Internet]. Journal of clinical endocrinology & metabolism. 2022 ; 107( 5): E1797-E1806.[citado 2024 jul. 02 ] Available from: https://doi.org/10.1210/clinem/dgac064
Artigo de periodico
Autosomal recessive form of isolated growth hormone deficiency is more frequent than the autosomal dominant form in a Brazilian cohort (2014)
Lido, Andria C. V.; França, Marcela M.; Correa, Fernanda A.; Otto, Aline P.; Carvalho, Luciani R.; Quedas, Elisangela P. S.; Nishi, Mirian Y.; Mendonça, Berenice B.; Arnhold, Ivo J. P.; Jorge, Alexander A. L.
Source: Growth Hormone and IGF Research. Unidade: FM
Subjects: HORMÔNIO DO CRESCIMENTO (ANORMALIDADES), GENES RECESSIVOS, ESTUDOS DE COORTES, BRASILEIROS, MUTAÇÃO GENÉTICA, BIOMETRIA
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ABNT
LIDO, Andria C. V. et al. Autosomal recessive form of isolated growth hormone deficiency is more frequent than the autosomal dominant form in a Brazilian cohort. Growth Hormone and IGF Research, v. 24, n. 5, p. 180-186, 2014Tradução . . Disponível em: https://doi.org/10.1016/j.ghir.2014.07.001. Acesso em: 02 jul. 2024.
APA
Lido, A. C. V., França, M. M., Correa, F. A., Otto, A. P., Carvalho, L. R., Quedas, E. P. S., et al. (2014). Autosomal recessive form of isolated growth hormone deficiency is more frequent than the autosomal dominant form in a Brazilian cohort. Growth Hormone and IGF Research, 24( 5), 180-186. doi:10.1016/j.ghir.2014.07.001
NLM
Lido ACV, França MM, Correa FA, Otto AP, Carvalho LR, Quedas EPS, Nishi MY, Mendonça BB, Arnhold IJP, Jorge AAL. Autosomal recessive form of isolated growth hormone deficiency is more frequent than the autosomal dominant form in a Brazilian cohort [Internet]. Growth Hormone and IGF Research. 2014 ; 24( 5): 180-186.[citado 2024 jul. 02 ] Available from: https://doi.org/10.1016/j.ghir.2014.07.001
Vancouver
Lido ACV, França MM, Correa FA, Otto AP, Carvalho LR, Quedas EPS, Nishi MY, Mendonça BB, Arnhold IJP, Jorge AAL. Autosomal recessive form of isolated growth hormone deficiency is more frequent than the autosomal dominant form in a Brazilian cohort [Internet]. Growth Hormone and IGF Research. 2014 ; 24( 5): 180-186.[citado 2024 jul. 02 ] Available from: https://doi.org/10.1016/j.ghir.2014.07.001
Artigo de periodico
Heterozygous Mutations in Natriuretic Peptide Receptor-B (NPR2) Gene as a Cause of Short Stature in Patients Initially Classified as Idiopathic Short Stature (2013)
Vasques, Gabriela A.; Amano, Naoko; ADocko, na J.; Funari, Mariana F. A.; Quedas, Elisangela P. S.; Nishi, Mirian Y.; Arnhold, Ivo J. P.; Hasegawa, Tomonobu; Jorge, Alexander A. L.
Source: The Journal of Clinical Endocrinology & Metabolism. Unidade: FM
Subjects: MEDIDAS FÍSICAS, MUTAÇÃO GENÉTICA, DNA (ANÁLISE), TÉCNICAS CITOLÓGICAS (TENDÊNCIAS), PEPTÍDEOS
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ABNT
VASQUES, Gabriela A. et al. Heterozygous Mutations in Natriuretic Peptide Receptor-B (NPR2) Gene as a Cause of Short Stature in Patients Initially Classified as Idiopathic Short Stature. The Journal of Clinical Endocrinology & Metabolism, v. 98, n. 10, p. E1636-E1644, 2013Tradução . . Disponível em: http://jcem.endojournals.org/content/98/10/E1636.full.pdf+html. Acesso em: 02 jul. 2024.
APA
Vasques, G. A., Amano, N., ADocko, na J., Funari, M. F. A., Quedas, E. P. S., Nishi, M. Y., et al. (2013). Heterozygous Mutations in Natriuretic Peptide Receptor-B (NPR2) Gene as a Cause of Short Stature in Patients Initially Classified as Idiopathic Short Stature. The Journal of Clinical Endocrinology & Metabolism, 98( 10), E1636-E1644. doi:10.1210/jc.2013-2142
NLM
Vasques GA, Amano N, ADocko na J, Funari MFA, Quedas EPS, Nishi MY, Arnhold IJP, Hasegawa T, Jorge AAL. Heterozygous Mutations in Natriuretic Peptide Receptor-B (NPR2) Gene as a Cause of Short Stature in Patients Initially Classified as Idiopathic Short Stature [Internet]. The Journal of Clinical Endocrinology & Metabolism. 2013 ; 98( 10): E1636-E1644.[citado 2024 jul. 02 ] Available from: http://jcem.endojournals.org/content/98/10/E1636.full.pdf+html
Vancouver
Vasques GA, Amano N, ADocko na J, Funari MFA, Quedas EPS, Nishi MY, Arnhold IJP, Hasegawa T, Jorge AAL. Heterozygous Mutations in Natriuretic Peptide Receptor-B (NPR2) Gene as a Cause of Short Stature in Patients Initially Classified as Idiopathic Short Stature [Internet]. The Journal of Clinical Endocrinology & Metabolism. 2013 ; 98( 10): E1636-E1644.[citado 2024 jul. 02 ] Available from: http://jcem.endojournals.org/content/98/10/E1636.full.pdf+html
Artigo de periodico
Post-receptor IGF1 insensitivity restricted to the MAPK pathway in a Silver–Russell syndrome patient with hypomethylation at the imprinting control region on chromosome 11 (2012)
Montenegro, Luciana R.; Leal, Andrea C.; Coutinho, Debora C.; Valassi, Helena P. L.; Nishi, Mirian Y.; Arnhold, Ivo J. P.; Mendonca, Berenice B.; Jorge, Alexander A. L.
Source: European Journal of Endocrinology. Unidade: FM
Subjects: METABOLISMO (QUÍMICA), PROLIFERAÇÃO CELULAR, CULTURA DE CÉLULAS, FENÓTIPOS, REAÇÃO EM CADEIA POR POLIMERASE, ANORMALIDADES MUSCULOSQUELÉTICAS (GENÉTICA), BIOQUÍMICA CLÍNICA
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ABNT
MONTENEGRO, Luciana R. et al. Post-receptor IGF1 insensitivity restricted to the MAPK pathway in a Silver–Russell syndrome patient with hypomethylation at the imprinting control region on chromosome 11. European Journal of Endocrinology, v. 166, n. 3, p. 543-550, 2012Tradução . . Disponível em: https://doi.org/10.1530/EJE-11-0964. Acesso em: 02 jul. 2024.
APA
Montenegro, L. R., Leal, A. C., Coutinho, D. C., Valassi, H. P. L., Nishi, M. Y., Arnhold, I. J. P., et al. (2012). Post-receptor IGF1 insensitivity restricted to the MAPK pathway in a Silver–Russell syndrome patient with hypomethylation at the imprinting control region on chromosome 11. European Journal of Endocrinology, 166( 3), 543-550. doi:10.1530/EJE-11-0964
NLM
Montenegro LR, Leal AC, Coutinho DC, Valassi HPL, Nishi MY, Arnhold IJP, Mendonca BB, Jorge AAL. Post-receptor IGF1 insensitivity restricted to the MAPK pathway in a Silver–Russell syndrome patient with hypomethylation at the imprinting control region on chromosome 11 [Internet]. European Journal of Endocrinology. 2012 ; 166( 3): 543-550.[citado 2024 jul. 02 ] Available from: https://doi.org/10.1530/EJE-11-0964
Vancouver
Montenegro LR, Leal AC, Coutinho DC, Valassi HPL, Nishi MY, Arnhold IJP, Mendonca BB, Jorge AAL. Post-receptor IGF1 insensitivity restricted to the MAPK pathway in a Silver–Russell syndrome patient with hypomethylation at the imprinting control region on chromosome 11 [Internet]. European Journal of Endocrinology. 2012 ; 166( 3): 543-550.[citado 2024 jul. 02 ] Available from: https://doi.org/10.1530/EJE-11-0964
Artigo de periodico
GH-Releasing hormone receptor gene: a novel splice-disrupting mutation and study of founder effects (2012)
Marui, Suemi; Trabach, Ericka b.; Boguszewski, Margaret C. S.; França, Marcela M.; Jorge, Alexander A. L.; Inoue, Hiroshi; Nishi, Mirian Y.; Lacerda Filho, Luiz de; Aguiar-Oliveira, Manuel H.; Mendonça, Berenice B.; Arnhold, Ivo J. P.
Source: Hormone research in paediatrics. Unidade: FM
Subjects: MUTAÇÃO GENÉTICA, GENES (ANÁLISE), HORMÔNIO DO CRESCIMENTO (DEFICIÊNCIA), DNA (ANÁLISE), AMPLIFICAÇÃO DE GENES, RECEPTORES HORMONAIS
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ABNT
MARUI, Suemi et al. GH-Releasing hormone receptor gene: a novel splice-disrupting mutation and study of founder effects. Hormone research in paediatrics, v. 78, n. 3, p. 165-172, 2012Tradução . . Disponível em: https://doi.org/10.1159/000342760. Acesso em: 02 jul. 2024.
APA
Marui, S., Trabach, E. b., Boguszewski, M. C. S., França, M. M., Jorge, A. A. L., Inoue, H., et al. (2012). GH-Releasing hormone receptor gene: a novel splice-disrupting mutation and study of founder effects. Hormone research in paediatrics, 78( 3), 165-172. doi:10.1159/000342760
NLM
Marui S, Trabach E b., Boguszewski MCS, França MM, Jorge AAL, Inoue H, Nishi MY, Lacerda Filho L de, Aguiar-Oliveira MH, Mendonça BB, Arnhold IJP. GH-Releasing hormone receptor gene: a novel splice-disrupting mutation and study of founder effects [Internet]. Hormone research in paediatrics. 2012 ;78( 3): 165-172.[citado 2024 jul. 02 ] Available from: https://doi.org/10.1159/000342760
Vancouver
Marui S, Trabach E b., Boguszewski MCS, França MM, Jorge AAL, Inoue H, Nishi MY, Lacerda Filho L de, Aguiar-Oliveira MH, Mendonça BB, Arnhold IJP. GH-Releasing hormone receptor gene: a novel splice-disrupting mutation and study of founder effects [Internet]. Hormone research in paediatrics. 2012 ;78( 3): 165-172.[citado 2024 jul. 02 ] Available from: https://doi.org/10.1159/000342760
Artigo de periodico
Usefulness of MLPA in the detection of SHOX deletions (2010)
Funari, Mariana F. A.; Jorge, Alexander A. L.; Souza, Silvia C. A. L.; Billerbeck, Ana E. C.; Arnhold, Ivo J. P.; Mendonca, Berenice B.; Nishi, Mirian Y.
Source: European Journal of Medical Genetics. Unidade: FM
Subjects: PESO-ESTATURA, FENÓTIPOS, DELEÇÃO DE GENES
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ABNT
FUNARI, Mariana F. A. et al. Usefulness of MLPA in the detection of SHOX deletions. European Journal of Medical Genetics, v. 53, n. 5, p. 234-238, 2010Tradução . . Disponível em: https://doi.org/10.1016/j.ejmg.2010.06.001. Acesso em: 02 jul. 2024.
APA
Funari, M. F. A., Jorge, A. A. L., Souza, S. C. A. L., Billerbeck, A. E. C., Arnhold, I. J. P., Mendonca, B. B., & Nishi, M. Y. (2010). Usefulness of MLPA in the detection of SHOX deletions. European Journal of Medical Genetics, 53( 5), 234-238. doi:10.1016/j.ejmg.2010.06.001
NLM
Funari MFA, Jorge AAL, Souza SCAL, Billerbeck AEC, Arnhold IJP, Mendonca BB, Nishi MY. Usefulness of MLPA in the detection of SHOX deletions [Internet]. European Journal of Medical Genetics. 2010 ; 53( 5): 234-238.[citado 2024 jul. 02 ] Available from: https://doi.org/10.1016/j.ejmg.2010.06.001
Vancouver
Funari MFA, Jorge AAL, Souza SCAL, Billerbeck AEC, Arnhold IJP, Mendonca BB, Nishi MY. Usefulness of MLPA in the detection of SHOX deletions [Internet]. European Journal of Medical Genetics. 2010 ; 53( 5): 234-238.[citado 2024 jul. 02 ] Available from: https://doi.org/10.1016/j.ejmg.2010.06.001
Artigo de periodico
Steroidogenic Factor 1 Overexpression and Gene Amplification Are More Frequent in Adrenocortical Tumors from Children than from Adults (2010)
Almeida, Madson Q.; Soares, Ibere Cauduro; Ribeiro, Tamaya C.; Fragoso, Maria Candida B. V.; Marins, Lidiane V.; Wakamatsu, Alda; Ressio, Rodrigo A.; Nishi, Mirian Y.; Jorge, Alexander A. L.; Lerario, Antonio M.; Alves, Venancio A. F.; Mendonca, B. B.; Latronico, A. C.
Source: Journal of Clinical Endocrinology and Metabolism. Unidade: FM
Subjects: EXPRESSÃO GÊNICA, NEOPLASIAS DAS GLÂNDULAS SUPRARRENAIS, REAÇÃO EM CADEIA POR POLIMERASE, CRIANÇAS
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ABNT
ALMEIDA, Madson Q. et al. Steroidogenic Factor 1 Overexpression and Gene Amplification Are More Frequent in Adrenocortical Tumors from Children than from Adults. Journal of Clinical Endocrinology and Metabolism, v. 95, n. 3, p. 1458-1462, 2010Tradução . . Disponível em: https://doi.org/10.1210/jc.2009-2040. Acesso em: 02 jul. 2024.
APA
Almeida, M. Q., Soares, I. C., Ribeiro, T. C., Fragoso, M. C. B. V., Marins, L. V., Wakamatsu, A., et al. (2010). Steroidogenic Factor 1 Overexpression and Gene Amplification Are More Frequent in Adrenocortical Tumors from Children than from Adults. Journal of Clinical Endocrinology and Metabolism, 95( 3), 1458-1462. doi:10.1210/jc.2009-2040
NLM
Almeida MQ, Soares IC, Ribeiro TC, Fragoso MCBV, Marins LV, Wakamatsu A, Ressio RA, Nishi MY, Jorge AAL, Lerario AM, Alves VAF, Mendonca BB, Latronico AC. Steroidogenic Factor 1 Overexpression and Gene Amplification Are More Frequent in Adrenocortical Tumors from Children than from Adults [Internet]. Journal of Clinical Endocrinology and Metabolism. 2010 ; 95( 3): 1458-1462.[citado 2024 jul. 02 ] Available from: https://doi.org/10.1210/jc.2009-2040
Vancouver
Almeida MQ, Soares IC, Ribeiro TC, Fragoso MCBV, Marins LV, Wakamatsu A, Ressio RA, Nishi MY, Jorge AAL, Lerario AM, Alves VAF, Mendonca BB, Latronico AC. Steroidogenic Factor 1 Overexpression and Gene Amplification Are More Frequent in Adrenocortical Tumors from Children than from Adults [Internet]. Journal of Clinical Endocrinology and Metabolism. 2010 ; 95( 3): 1458-1462.[citado 2024 jul. 02 ] Available from: https://doi.org/10.1210/jc.2009-2040

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