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Artigo de periodico
Phenotypic and mutational spectrum of ROR2-related Robinow syndrome (2022)
Lima, Ariadne R.; Ferreira, Barbara M.; Zhang, Chaofan; Jolly, Angad; Du, Haowei ; White, Janson J.; Dawood, Moez; Lins, Tulio C.; Chiabai, Marcela A.; van Beusekom, Ellen; Cordoba, Mara S.; Rosa, Erica C. C. Caldas; Kayserili, Hulya; Kimonis, Virginia; Wu, Erica; Mellado, Cecilia; Aggarwal, Vineet; Richieri-Costa, Antonio ; Brunoni, Décio; Canó, Talyta M.; Jorge, Alexander A. L. ; Kim, Chong Ae ; Honjo, Rachel ; Bertola, Débora R. ; Dandalo-Girardi, Raissa M.; Bayram, Yavuz; Gezdirici, Alper; Yilmaz-Gulec, Elif; Gumus, Evren; Yilmaz, Gülay C.; Okamoto, Nobuhiko ; Ohashi, Hirofumi; Coban–Akdemir, Zeynep; Mitani, Tadahiro; Jhangiani, Shalini N.; Muzny, Donna M.; Regattieri, Neysa A. P. ; Pogue, Robert ; Pereira, Rinaldo W.; Otto, Paulo A ; Gibbs, Richard A.; Ali, Bassam R.; van Bokhoven, Hans; Brunner, Han G.; Sutton, V. Reid; Lupski, James R. ; Vianna-Morgante, Angela M ; Carvalho, Claudia M. B. ; Mazzeu, Juliana F.
Source: Human Mutation. Unidades: HRAC, FM, IB
Subjects: FENÓTIPOS, MORFOLOGIA (ANATOMIA), SEQUENCIAMENTO GENÉTICO
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ABNT
LIMA, Ariadne R. et al. Phenotypic and mutational spectrum of ROR2-related Robinow syndrome. Human Mutation, v. 43, n. 7, p. 900-918, 2022Tradução . . Disponível em: https://doi.org/10.1002/humu.24375. Acesso em: 19 jul. 2025.
APA
Lima, A. R., Ferreira, B. M., Zhang, C., Jolly, A., Du, H., White, J. J., et al. (2022). Phenotypic and mutational spectrum of ROR2-related Robinow syndrome. Human Mutation, 43( 7), 900-918. doi:10.1002/humu.24375
NLM
Lima AR, Ferreira BM, Zhang C, Jolly A, Du H, White JJ, Dawood M, Lins TC, Chiabai MA, van Beusekom E, Cordoba MS, Rosa ECCC, Kayserili H, Kimonis V, Wu E, Mellado C, Aggarwal V, Richieri-Costa A, Brunoni D, Canó TM, Jorge AAL, Kim CA, Honjo R, Bertola DR, Dandalo-Girardi RM, Bayram Y, Gezdirici A, Yilmaz-Gulec E, Gumus E, Yilmaz GC, Okamoto N, Ohashi H, Coban–Akdemir Z, Mitani T, Jhangiani SN, Muzny DM, Regattieri NAP, Pogue R, Pereira RW, Otto PA, Gibbs RA, Ali BR, van Bokhoven H, Brunner HG, Sutton VR, Lupski JR, Vianna-Morgante AM, Carvalho CMB, Mazzeu JF. Phenotypic and mutational spectrum of ROR2-related Robinow syndrome [Internet]. Human Mutation. 2022 ; 43( 7): 900-918.[citado 2025 jul. 19 ] Available from: https://doi.org/10.1002/humu.24375
Vancouver
Lima AR, Ferreira BM, Zhang C, Jolly A, Du H, White JJ, Dawood M, Lins TC, Chiabai MA, van Beusekom E, Cordoba MS, Rosa ECCC, Kayserili H, Kimonis V, Wu E, Mellado C, Aggarwal V, Richieri-Costa A, Brunoni D, Canó TM, Jorge AAL, Kim CA, Honjo R, Bertola DR, Dandalo-Girardi RM, Bayram Y, Gezdirici A, Yilmaz-Gulec E, Gumus E, Yilmaz GC, Okamoto N, Ohashi H, Coban–Akdemir Z, Mitani T, Jhangiani SN, Muzny DM, Regattieri NAP, Pogue R, Pereira RW, Otto PA, Gibbs RA, Ali BR, van Bokhoven H, Brunner HG, Sutton VR, Lupski JR, Vianna-Morgante AM, Carvalho CMB, Mazzeu JF. Phenotypic and mutational spectrum of ROR2-related Robinow syndrome [Internet]. Human Mutation. 2022 ; 43( 7): 900-918.[citado 2025 jul. 19 ] Available from: https://doi.org/10.1002/humu.24375
Artigo de periodico
Update on new GH-IGF axis genetic defects (2019)
Vasques, Gabriela A; Andrade, Nathalia L. M; Correa, Fernanda A; Jorge, Alexander A. L.
Source: Archives of endocrinology metabolism. Unidade: FM
Subjects: TRANSTORNOS DO CRESCIMENTO, REGULADORES DE CRESCIMENTO, HORMÔNIO DO CRESCIMENTO, FATORES DE TRANSCRIÇÃO, HIPOGONADISMO, MUTAÇÃO GENÉTICA, FENÓTIPOS, ANORMALIDADES CONGÊNITAS, METABOLISMO DE PROTEÍNA
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ABNT
VASQUES, Gabriela A et al. Update on new GH-IGF axis genetic defects. Archives of endocrinology metabolism, v. 63, n. 6, p. 608-617, 2019Tradução . . Disponível em: https://doi.org/10.20945/2359-3997000000191. Acesso em: 19 jul. 2025.
APA
Vasques, G. A., Andrade, N. L. M., Correa, F. A., & Jorge, A. A. L. (2019). Update on new GH-IGF axis genetic defects. Archives of endocrinology metabolism, 63( 6), 608-617. doi:10.20945/2359-3997000000191
NLM
Vasques GA, Andrade NLM, Correa FA, Jorge AAL. Update on new GH-IGF axis genetic defects [Internet]. Archives of endocrinology metabolism. 2019 ; 63( 6): 608-617.[citado 2025 jul. 19 ] Available from: https://doi.org/10.20945/2359-3997000000191
Vancouver
Vasques GA, Andrade NLM, Correa FA, Jorge AAL. Update on new GH-IGF axis genetic defects [Internet]. Archives of endocrinology metabolism. 2019 ; 63( 6): 608-617.[citado 2025 jul. 19 ] Available from: https://doi.org/10.20945/2359-3997000000191
Artigo de periodico
BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells (2018)
Lessel, Davor; Jorge, Alexander A. L.
Source: Brain. Unidade: FM
Subjects: DESENVOLVIMENTO INTELECTUAL, INFLAMAÇÃO, MUTAÇÃO GENÉTICA
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ABNT
LESSEL, Davor e JORGE, Alexander A. L. BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells. Brain, v. 141, p. 2299-2311, 2018Tradução . . Disponível em: https://doi.org/10.1093/brain/awy173. Acesso em: 19 jul. 2025.
APA
Lessel, D., & Jorge, A. A. L. (2018). BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells. Brain, 141, 2299-2311. doi:10.1093/brain/awy173
NLM
Lessel D, Jorge AAL. BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells [Internet]. Brain. 2018 ; 141 2299-2311.[citado 2025 jul. 19 ] Available from: https://doi.org/10.1093/brain/awy173
Vancouver
Lessel D, Jorge AAL. BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells [Internet]. Brain. 2018 ; 141 2299-2311.[citado 2025 jul. 19 ] Available from: https://doi.org/10.1093/brain/awy173
Artigo de periodico
Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause (2018)
Homma, Thais K.; Furuya, Tatiane K.; Roela, Rosimeire A.; Kim, Chong A.; Jorge, Alexander A. L.
Source: Hormone research in paediatrics. Unidade: FM
Subjects: ESTATURA, GENÉTICA, CRESCIMENTO, TRANSTORNOS DO CRESCIMENTO, INSUFICIÊNCIA DE CRESCIMENTO, DIAGNÓSTICO, IDADE GESTACIONAL
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ABNT
HOMMA, Thais K. et al. Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause. Hormone research in paediatrics, v. 89, n. 1, p. 13-21, 2018Tradução . . Disponível em: https://doi.org/10.1159/000481777. Acesso em: 19 jul. 2025.
APA
Homma, T. K., Furuya, T. K., Roela, R. A., Kim, C. A., & Jorge, A. A. L. (2018). Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause. Hormone research in paediatrics, 89( 1), 13-21. doi:10.1159/000481777
NLM
Homma TK, Furuya TK, Roela RA, Kim CA, Jorge AAL. Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause [Internet]. Hormone research in paediatrics. 2018 ; 89( 1): 13-21.[citado 2025 jul. 19 ] Available from: https://doi.org/10.1159/000481777
Vancouver
Homma TK, Furuya TK, Roela RA, Kim CA, Jorge AAL. Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause [Internet]. Hormone research in paediatrics. 2018 ; 89( 1): 13-21.[citado 2025 jul. 19 ] Available from: https://doi.org/10.1159/000481777
Artigo de periodico
Growth hormone insensitivity with immune dysfunction caused by a STAT5B mutation in the south of Brazil: evidence for a founder effect (2017)
Scalco, Renata C.; Gonçalves, Fernanda T.; Santos, Hadassa C.; Cardena, Mari M. S. G.; Tonelli, Carlos A.; Funari, Mariana F. A.; Aracava, Rosana M.; Pereira, Alexandre C.; Fridman, Cintia; Jorge, Alexander A. L.
Source: Genetics and Molecular Biology. Unidade: FM
Subjects: DNA, MUTAÇÃO GENÉTICA, TÉCNICAS CITOLÓGICAS, SISTEMA IMUNE
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ABNT
SCALCO, Renata C. et al. Growth hormone insensitivity with immune dysfunction caused by a STAT5B mutation in the south of Brazil: evidence for a founder effect. Genetics and Molecular Biology, v. 40, n. 2, p. 436-441, 2017Tradução . . Disponível em: http://www.scielo.br/pdf/gmb/v40n2/1415-4757-gmb-1678-4685-GMB-2016-0231.pdf. Acesso em: 19 jul. 2025.
APA
Scalco, R. C., Gonçalves, F. T., Santos, H. C., Cardena, M. M. S. G., Tonelli, C. A., Funari, M. F. A., et al. (2017). Growth hormone insensitivity with immune dysfunction caused by a STAT5B mutation in the south of Brazil: evidence for a founder effect. Genetics and Molecular Biology, 40( 2), 436-441. doi:10.1590/1678-4685-gmb-2016-0231
NLM
Scalco RC, Gonçalves FT, Santos HC, Cardena MMSG, Tonelli CA, Funari MFA, Aracava RM, Pereira AC, Fridman C, Jorge AAL. Growth hormone insensitivity with immune dysfunction caused by a STAT5B mutation in the south of Brazil: evidence for a founder effect [Internet]. Genetics and Molecular Biology. 2017 ; 40( 2): 436-441.[citado 2025 jul. 19 ] Available from: http://www.scielo.br/pdf/gmb/v40n2/1415-4757-gmb-1678-4685-GMB-2016-0231.pdf
Vancouver
Scalco RC, Gonçalves FT, Santos HC, Cardena MMSG, Tonelli CA, Funari MFA, Aracava RM, Pereira AC, Fridman C, Jorge AAL. Growth hormone insensitivity with immune dysfunction caused by a STAT5B mutation in the south of Brazil: evidence for a founder effect [Internet]. Genetics and Molecular Biology. 2017 ; 40( 2): 436-441.[citado 2025 jul. 19 ] Available from: http://www.scielo.br/pdf/gmb/v40n2/1415-4757-gmb-1678-4685-GMB-2016-0231.pdf
Trabalho de evento-resumo periodico
Clinical and molecular analysis of pubertal control in a cohort of silver-russel and temple syndromes patients (2017)
Canton, Ana; Jorge, Alexander A. L.
Source: Hormone research in paediatrics. Conference titles: Joint meeting of paediatric endocrinology. Unidade: FM
Subjects: PUBERDADE PRECOCE, CROMOSSOMOS, DOENÇAS GENÉTICAS
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ABNT
CANTON, Ana e JORGE, Alexander A. L. Clinical and molecular analysis of pubertal control in a cohort of silver-russel and temple syndromes patients. Hormone research in paediatrics. Basel: Faculdade de Medicina, Universidade de São Paulo. Disponível em: https://www.karger.com/Journal/Issue/276809. Acesso em: 19 jul. 2025. , 2017
APA
Canton, A., & Jorge, A. A. L. (2017). Clinical and molecular analysis of pubertal control in a cohort of silver-russel and temple syndromes patients. Hormone research in paediatrics. Basel: Faculdade de Medicina, Universidade de São Paulo. Recuperado de https://www.karger.com/Journal/Issue/276809
NLM
Canton A, Jorge AAL. Clinical and molecular analysis of pubertal control in a cohort of silver-russel and temple syndromes patients [Internet]. Hormone research in paediatrics. 2017 ; 88 8-9.[citado 2025 jul. 19 ] Available from: https://www.karger.com/Journal/Issue/276809
Vancouver
Canton A, Jorge AAL. Clinical and molecular analysis of pubertal control in a cohort of silver-russel and temple syndromes patients [Internet]. Hormone research in paediatrics. 2017 ; 88 8-9.[citado 2025 jul. 19 ] Available from: https://www.karger.com/Journal/Issue/276809
Artigo de periodico
Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations (2017)
Gkourogianni, Alexandra; Andrew, Melissa; Tyzinski, Leah; Crocker, Melissa; Douglas, Jessica; Dunbar, Nancy; Fairchild, Jan; Funari, Mariana F. A.; Heath, Karen E.; Jorge, Alexander A. L.; Kurtzman, Tracey; LaFranchi, Stephen; Lalani, Seema; Lebl, Jan; Lin, Yuezhen; Los, Evan; Newbern, Dorothee; Nowak, Catherine; Olson, Micah; Popovic, Jadranka; Průhová, Štěpánka; Elblova, Lenka; Quintos, Jose Bernardo; Segerlund, Emma; Sentchordi, Lucia; Shinawi, Marwan; Stattin, Eva-Lena; Swartz, Jonathan; del Angel, Ariadna González; Cuéllar, Sinhué Diaz; Hosono, Hidekazu; Sanchez-Lara, Pedro A.; Hwa, Vivian; Baron, Jeffrey; Nilsson, Ola; Dauber, Andrew
Source: Journal of clinical endocrinology and metabolism. Unidade: FM
Subjects: CRIANÇAS, MUTAÇAO GENÉTICA, ESTATURA
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ABNT
GKOUROGIANNI, Alexandra et al. Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations. Journal of clinical endocrinology and metabolism, v. 102, n. 2, p. 460-469, 2017Tradução . . Disponível em: https://doi.org/10.1210/jc.2016-3313. Acesso em: 19 jul. 2025.
APA
Gkourogianni, A., Andrew, M., Tyzinski, L., Crocker, M., Douglas, J., Dunbar, N., et al. (2017). Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations. Journal of clinical endocrinology and metabolism, 102( 2), 460-469. doi:10.1210/jc.2016-3313
NLM
Gkourogianni A, Andrew M, Tyzinski L, Crocker M, Douglas J, Dunbar N, Fairchild J, Funari MFA, Heath KE, Jorge AAL, Kurtzman T, LaFranchi S, Lalani S, Lebl J, Lin Y, Los E, Newbern D, Nowak C, Olson M, Popovic J, Průhová Š, Elblova L, Quintos JB, Segerlund E, Sentchordi L, Shinawi M, Stattin E-L, Swartz J, del Angel AG, Cuéllar SD, Hosono H, Sanchez-Lara PA, Hwa V, Baron J, Nilsson O, Dauber A. Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations [Internet]. Journal of clinical endocrinology and metabolism. 2017 ; 102( 2): 460-469.[citado 2025 jul. 19 ] Available from: https://doi.org/10.1210/jc.2016-3313
Vancouver
Gkourogianni A, Andrew M, Tyzinski L, Crocker M, Douglas J, Dunbar N, Fairchild J, Funari MFA, Heath KE, Jorge AAL, Kurtzman T, LaFranchi S, Lalani S, Lebl J, Lin Y, Los E, Newbern D, Nowak C, Olson M, Popovic J, Průhová Š, Elblova L, Quintos JB, Segerlund E, Sentchordi L, Shinawi M, Stattin E-L, Swartz J, del Angel AG, Cuéllar SD, Hosono H, Sanchez-Lara PA, Hwa V, Baron J, Nilsson O, Dauber A. Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations [Internet]. Journal of clinical endocrinology and metabolism. 2017 ; 102( 2): 460-469.[citado 2025 jul. 19 ] Available from: https://doi.org/10.1210/jc.2016-3313
Artigo de periodico
Management of endocrine disease: Diagnostic and therapeutic approach of tall stature (2017)
Albuquerque, Edoarda V. A.; Scalco, Renata C; Jorge, Alexander A. L.
Source: European Journal of Endocrinology. Unidade: FM
Subjects: ESTATURA, ADOLESCENTES, AVALIAÇÃO EM SAÚDE, HORMÔNIOS SEXUAIS
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ABNT
ALBUQUERQUE, Edoarda V. A. e SCALCO, Renata C e JORGE, Alexander A. L. Management of endocrine disease: Diagnostic and therapeutic approach of tall stature. European Journal of Endocrinology, v. 176, n. 6, p. R339-R353, 2017Tradução . . Disponível em: https://doi.org/10.1530/EJE-16-1054. Acesso em: 19 jul. 2025.
APA
Albuquerque, E. V. A., Scalco, R. C., & Jorge, A. A. L. (2017). Management of endocrine disease: Diagnostic and therapeutic approach of tall stature. European Journal of Endocrinology, 176( 6), R339-R353. doi:10.1530/EJE-16-1054
NLM
Albuquerque EVA, Scalco RC, Jorge AAL. Management of endocrine disease: Diagnostic and therapeutic approach of tall stature [Internet]. European Journal of Endocrinology. 2017 ; 176( 6): R339-R353.[citado 2025 jul. 19 ] Available from: https://doi.org/10.1530/EJE-16-1054
Vancouver
Albuquerque EVA, Scalco RC, Jorge AAL. Management of endocrine disease: Diagnostic and therapeutic approach of tall stature [Internet]. European Journal of Endocrinology. 2017 ; 176( 6): R339-R353.[citado 2025 jul. 19 ] Available from: https://doi.org/10.1530/EJE-16-1054
Artigo de periodico
Long-term response to growth hormone therapy in a patient with short stature caused by a novel heterozygous mutation in NPR2 (2017)
Vasques, Gabriela A.; Hisado-Oliva, Alfonso; Funari, Mariana F. A.; Lerario, Antonio M.; Quedas, Elisangela P. S.; Solberg, Paulo; Heath, Karen E.; Jorge, Alexander A. L.
Source: Journal of pediatric endocrinology & metabolism. Unidade: FM
Subjects: HORMÔNIO DO CRESCIMENTO, MUTAÇÃO GENÉTICA, ESTATUTO DA CRIANÇA E DO ADOLESCENTE, IMAGEM POR RESSONÂNCIA MAGNÉTICA
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ABNT
VASQUES, Gabriela A. et al. Long-term response to growth hormone therapy in a patient with short stature caused by a novel heterozygous mutation in NPR2. Journal of pediatric endocrinology & metabolism, v. 30, n. 1, p. 111-116, 2017Tradução . . Disponível em: https://doi.org/10.1515/jpem-2016-0280. Acesso em: 19 jul. 2025.
APA
Vasques, G. A., Hisado-Oliva, A., Funari, M. F. A., Lerario, A. M., Quedas, E. P. S., Solberg, P., et al. (2017). Long-term response to growth hormone therapy in a patient with short stature caused by a novel heterozygous mutation in NPR2. Journal of pediatric endocrinology & metabolism, 30( 1), 111-116. doi:10.1515/jpem-2016-0280
NLM
Vasques GA, Hisado-Oliva A, Funari MFA, Lerario AM, Quedas EPS, Solberg P, Heath KE, Jorge AAL. Long-term response to growth hormone therapy in a patient with short stature caused by a novel heterozygous mutation in NPR2 [Internet]. Journal of pediatric endocrinology & metabolism. 2017 ; 30( 1): 111-116.[citado 2025 jul. 19 ] Available from: https://doi.org/10.1515/jpem-2016-0280
Vancouver
Vasques GA, Hisado-Oliva A, Funari MFA, Lerario AM, Quedas EPS, Solberg P, Heath KE, Jorge AAL. Long-term response to growth hormone therapy in a patient with short stature caused by a novel heterozygous mutation in NPR2 [Internet]. Journal of pediatric endocrinology & metabolism. 2017 ; 30( 1): 111-116.[citado 2025 jul. 19 ] Available from: https://doi.org/10.1515/jpem-2016-0280
Artigo de periodico
Partial correction of the dwarf phenotype by non-viral transfer of the growth hormone gene in mice: Treatment age is critical (2016)
Higuti, Eliza; Cecchi, Cláudia R.; Oliveira, Nélio A. J.; Lima, Eliana R.; Vieira, Daniel P.; Aagaard, Lars; Jensen, Thomas G.; Jorge, Alexander A. L.; Bartolini, Paolo; Peroni, Cibele N.
Source: Growth Hormone and IGF Research. Unidade: FM
Subjects: HORMÔNIO DO CRESCIMENTO, MODELOS ANIMAIS, ENVELHECIMENTO, RATOS
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ABNT
HIGUTI, Eliza et al. Partial correction of the dwarf phenotype by non-viral transfer of the growth hormone gene in mice: Treatment age is critical. Growth Hormone and IGF Research, v. 26, n. 1, p. 1-7, 2016Tradução . . Disponível em: https://doi.org/10.1016/j.ghir.2015.12.001. Acesso em: 19 jul. 2025.
APA
Higuti, E., Cecchi, C. R., Oliveira, N. A. J., Lima, E. R., Vieira, D. P., Aagaard, L., et al. (2016). Partial correction of the dwarf phenotype by non-viral transfer of the growth hormone gene in mice: Treatment age is critical. Growth Hormone and IGF Research, 26( 1), 1-7. doi:10.1016/j.ghir.2015.12.001
NLM
Higuti E, Cecchi CR, Oliveira NAJ, Lima ER, Vieira DP, Aagaard L, Jensen TG, Jorge AAL, Bartolini P, Peroni CN. Partial correction of the dwarf phenotype by non-viral transfer of the growth hormone gene in mice: Treatment age is critical [Internet]. Growth Hormone and IGF Research. 2016 ; 26( 1): 1-7.[citado 2025 jul. 19 ] Available from: https://doi.org/10.1016/j.ghir.2015.12.001
Vancouver
Higuti E, Cecchi CR, Oliveira NAJ, Lima ER, Vieira DP, Aagaard L, Jensen TG, Jorge AAL, Bartolini P, Peroni CN. Partial correction of the dwarf phenotype by non-viral transfer of the growth hormone gene in mice: Treatment age is critical [Internet]. Growth Hormone and IGF Research. 2016 ; 26( 1): 1-7.[citado 2025 jul. 19 ] Available from: https://doi.org/10.1016/j.ghir.2015.12.001
Artigo de periodico
Influence of growth hormone receptor (GHR) exon 3 and -202A/C IGFBP-3 genetic polymorphisms on clinical and biochemical features and therapeutic outcome of patients with acromegaly (2015)
Jallad, Raquel S.; Trarbach, Ericka B.; Duarte, Felipe H.; Jorge, Alexander A. L.; Bronstein, Marcello D.
Source: Pituitary. Unidade: FM
Subjects: POLIMORFISMO, RECEPTORES DA SOMATOTROFINA, GENÓTIPOS, RESULTADO DE TRATAMENTO, AVALIAÇÃO DE PROCESSOS E RESULTADOS, ACROMEGALIA, GENÓTIPOS
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ABNT
JALLAD, Raquel S. et al. Influence of growth hormone receptor (GHR) exon 3 and -202A/C IGFBP-3 genetic polymorphisms on clinical and biochemical features and therapeutic outcome of patients with acromegaly. Pituitary, v. 18, n. 5, p. 666-673, 2015Tradução . . Disponível em: http://link.springer.com/article/10.1007%2Fs11102-014-0629-y. Acesso em: 19 jul. 2025.
APA
Jallad, R. S., Trarbach, E. B., Duarte, F. H., Jorge, A. A. L., & Bronstein, M. D. (2015). Influence of growth hormone receptor (GHR) exon 3 and -202A/C IGFBP-3 genetic polymorphisms on clinical and biochemical features and therapeutic outcome of patients with acromegaly. Pituitary, 18( 5), 666-673. doi:10.1007/s11102-014-0629-y
NLM
Jallad RS, Trarbach EB, Duarte FH, Jorge AAL, Bronstein MD. Influence of growth hormone receptor (GHR) exon 3 and -202A/C IGFBP-3 genetic polymorphisms on clinical and biochemical features and therapeutic outcome of patients with acromegaly [Internet]. Pituitary. 2015 ; 18( 5): 666-673.[citado 2025 jul. 19 ] Available from: http://link.springer.com/article/10.1007%2Fs11102-014-0629-y
Vancouver
Jallad RS, Trarbach EB, Duarte FH, Jorge AAL, Bronstein MD. Influence of growth hormone receptor (GHR) exon 3 and -202A/C IGFBP-3 genetic polymorphisms on clinical and biochemical features and therapeutic outcome of patients with acromegaly [Internet]. Pituitary. 2015 ; 18( 5): 666-673.[citado 2025 jul. 19 ] Available from: http://link.springer.com/article/10.1007%2Fs11102-014-0629-y
Artigo de periodico
Role of GLI2 in hypopituitarism phenotype (2015)
Arnhold, Ivo J. P.; França, Marcela M.; Carvalho, Luciani R.; Mendonca, Berenice B; Jorge, Alexander A. L.
Source: Journal of Molecular Endocrinology. Unidade: FM
Subjects: PROTEÍNAS, HORMÔNIOS DA ADENO-HIPÓFISE, HORMÔNIOS HIPOFISÁRIOS, ENDOCRINOPATIAS, MUTAÇÃO
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ABNT
ARNHOLD, Ivo J. P. et al. Role of GLI2 in hypopituitarism phenotype. Journal of Molecular Endocrinology, v. 54, n. 3, p. R141-R150, 2015Tradução . . Disponível em: https://doi.org/10.1530/JME-15-0009. Acesso em: 19 jul. 2025.
APA
Arnhold, I. J. P., França, M. M., Carvalho, L. R., Mendonca, B. B., & Jorge, A. A. L. (2015). Role of GLI2 in hypopituitarism phenotype. Journal of Molecular Endocrinology, 54( 3), R141-R150. doi:10.1530/JME-15-0009
NLM
Arnhold IJP, França MM, Carvalho LR, Mendonca BB, Jorge AAL. Role of GLI2 in hypopituitarism phenotype [Internet]. Journal of Molecular Endocrinology. 2015 ; 54( 3): R141-R150.[citado 2025 jul. 19 ] Available from: https://doi.org/10.1530/JME-15-0009
Vancouver
Arnhold IJP, França MM, Carvalho LR, Mendonca BB, Jorge AAL. Role of GLI2 in hypopituitarism phenotype [Internet]. Journal of Molecular Endocrinology. 2015 ; 54( 3): R141-R150.[citado 2025 jul. 19 ] Available from: https://doi.org/10.1530/JME-15-0009
Artigo de periodico
STAT5B mutations in heterozygous state have negative impact on height: another clue in human stature heritability (2015)
Scalco, Renata C.; Hwa, Vivian; Domené, Horacio M.; Jasper, Héctor G.; Belgorosky, Alicia; Marino, Roxana; Pereira, Alberto M.; Tonelli, Carlos A.; Wit, Jan M.; Rosenfeld, Ron G.; Jorge, Alexander A. L.
Source: European Journal of Endocrinology. Unidade: FM
Subjects: PREVALÊNCIA, SEQUÊNCIA DO DNA, MUTAÇÃO GENÉTICA, DOENÇAS HEREDITÁRIAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
SCALCO, Renata C. et al. STAT5B mutations in heterozygous state have negative impact on height: another clue in human stature heritability. European Journal of Endocrinology, v. 173, n. 3, p. 291-296, 2015Tradução . . Disponível em: https://doi.org/10.1530/EJE-15-0398. Acesso em: 19 jul. 2025.
APA
Scalco, R. C., Hwa, V., Domené, H. M., Jasper, H. G., Belgorosky, A., Marino, R., et al. (2015). STAT5B mutations in heterozygous state have negative impact on height: another clue in human stature heritability. European Journal of Endocrinology, 173( 3), 291-296. doi:10.1530/EJE-15-0398
NLM
Scalco RC, Hwa V, Domené HM, Jasper HG, Belgorosky A, Marino R, Pereira AM, Tonelli CA, Wit JM, Rosenfeld RG, Jorge AAL. STAT5B mutations in heterozygous state have negative impact on height: another clue in human stature heritability [Internet]. European Journal of Endocrinology. 2015 ; 173( 3): 291-296.[citado 2025 jul. 19 ] Available from: https://doi.org/10.1530/EJE-15-0398
Vancouver
Scalco RC, Hwa V, Domené HM, Jasper HG, Belgorosky A, Marino R, Pereira AM, Tonelli CA, Wit JM, Rosenfeld RG, Jorge AAL. STAT5B mutations in heterozygous state have negative impact on height: another clue in human stature heritability [Internet]. European Journal of Endocrinology. 2015 ; 173( 3): 291-296.[citado 2025 jul. 19 ] Available from: https://doi.org/10.1530/EJE-15-0398
Artigo de periodico
Frequent development of combined pituitary hormone deficiency in patients initially diagnosed as isolated growth hormone deficiency: a long term follow-up of patients from a single center (2015)
Otto, Aline P.; França, Marcela M.; Correa, Fernanda A.; Costalonga, Everlayny F.; Leite, Claudia C.; Mendonca, Berenice B.; Arnhold, Ivo J. P.; Carvalho, Luciani R. S.; Jorge, Alexander A. L.
Source: Pituitary. Unidade: FM
Subjects: HORMÔNIOS HIPOFISÁRIOS (DEFICIÊNCIA), ESTUDOS LONGITUDINAIS, CRIANÇAS, SEGUIMENTOS, ESTUDOS DE COORTES
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
OTTO, Aline P. et al. Frequent development of combined pituitary hormone deficiency in patients initially diagnosed as isolated growth hormone deficiency: a long term follow-up of patients from a single center. Pituitary, v. 18, n. 4, p. 561-567, 2015Tradução . . Disponível em: http://link.springer.com/article/10.1007%2Fs11102-014-0610-9. Acesso em: 19 jul. 2025.
APA
Otto, A. P., França, M. M., Correa, F. A., Costalonga, E. F., Leite, C. C., Mendonca, B. B., et al. (2015). Frequent development of combined pituitary hormone deficiency in patients initially diagnosed as isolated growth hormone deficiency: a long term follow-up of patients from a single center. Pituitary, 18( 4), 561-567. doi:10.1007/s11102-014-0610-9
NLM
Otto AP, França MM, Correa FA, Costalonga EF, Leite CC, Mendonca BB, Arnhold IJP, Carvalho LRS, Jorge AAL. Frequent development of combined pituitary hormone deficiency in patients initially diagnosed as isolated growth hormone deficiency: a long term follow-up of patients from a single center [Internet]. Pituitary. 2015 ; 18( 4): 561-567.[citado 2025 jul. 19 ] Available from: http://link.springer.com/article/10.1007%2Fs11102-014-0610-9
Vancouver
Otto AP, França MM, Correa FA, Costalonga EF, Leite CC, Mendonca BB, Arnhold IJP, Carvalho LRS, Jorge AAL. Frequent development of combined pituitary hormone deficiency in patients initially diagnosed as isolated growth hormone deficiency: a long term follow-up of patients from a single center [Internet]. Pituitary. 2015 ; 18( 4): 561-567.[citado 2025 jul. 19 ] Available from: http://link.springer.com/article/10.1007%2Fs11102-014-0610-9
Artigo de periodico
Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome (2015)
Yamamoto, Guilherme Lopes; Aguena, Meire; Gos, Monika; Hung, Christina; Pilch, Jacek; Fahiminiya, Somayyeh; Abramowicz, Anna; Cristian, Ingrid; Buscarilli, Michelle; Naslavsky, Michel ; Malaquias, Alexsandra C.; Zatz, Mayana ; Bodamer, Olaf; Majewski, Jacek; Jorge, Alexander A. L.; Pereira, Alexandre C.; Kim, Chong Ae; Passos-Bueno, Maria Rita ; Bertola, Débora Romeo
Source: Journal of Medical Genetics. Unidades: FM, IB
Subjects: ESTUDOS DE COORTES, ESTATÍSTICA (MÉTODOS), ANORMALIDADES CARDIOVASCULARES, ANORMALIDADES CRANIOFACIAIS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
YAMAMOTO, Guilherme Lopes et al. Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. Journal of Medical Genetics, v. 52, n. 6, p. 413-421, 2015Tradução . . Disponível em: https://doi.org/10.1136/jmedgenet-2015-103018. Acesso em: 19 jul. 2025.
APA
Yamamoto, G. L., Aguena, M., Gos, M., Hung, C., Pilch, J., Fahiminiya, S., et al. (2015). Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. Journal of Medical Genetics, 52( 6), 413-421. doi:10.1136/jmedgenet-2015-103018
NLM
Yamamoto GL, Aguena M, Gos M, Hung C, Pilch J, Fahiminiya S, Abramowicz A, Cristian I, Buscarilli M, Naslavsky M, Malaquias AC, Zatz M, Bodamer O, Majewski J, Jorge AAL, Pereira AC, Kim CA, Passos-Bueno MR, Bertola DR. Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome [Internet]. Journal of Medical Genetics. 2015 ; 52( 6): 413-421.[citado 2025 jul. 19 ] Available from: https://doi.org/10.1136/jmedgenet-2015-103018
Vancouver
Yamamoto GL, Aguena M, Gos M, Hung C, Pilch J, Fahiminiya S, Abramowicz A, Cristian I, Buscarilli M, Naslavsky M, Malaquias AC, Zatz M, Bodamer O, Majewski J, Jorge AAL, Pereira AC, Kim CA, Passos-Bueno MR, Bertola DR. Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome [Internet]. Journal of Medical Genetics. 2015 ; 52( 6): 413-421.[citado 2025 jul. 19 ] Available from: https://doi.org/10.1136/jmedgenet-2015-103018
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.
Source: American Journal of Medical Genetics Part A. Unidades: IB, FM
Subjects: MUTAÇÃO GENÉTICA, RECIDIVA, DIAGNÓSTICO POR COMPUTADOR, OSTEOCONDRODISPLASIAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
SILVEIRA, Karina C. 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. Hoboken: Instituto de Biociências, Universidade de São Paulo. Disponível em: http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.36954/epdf. Acesso em: 19 jul. 2025. , 2015
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: Instituto de Biociências, Universidade de São Paulo. 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.[citado 2025 jul. 19 ] 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.[citado 2025 jul. 19 ] Available from: http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.36954/epdf
Artigo de periodico
A Novel Homologous Model for Gene Therapy of Dwarfism by Non-Viral Transfer of the Mouse Growth Hormone Gene into Immunocompetent Dwarf Mice (2014)
Cecchi, Claudia R.; Higuti, Eliza; Oliveira, Nélio A. J.; Lima, Eliana R.; Jakobsen, Maria; Dagnaes-Hansen, Frederick; Gissel, Hanne; Aagaard, Lars; Jensen, Thomas G.; Jorge, Alexander A. L.; Bartolini, Paolo; Peroni, Cibele N.
Source: Current Gene Therapy. Unidade: FM
Subjects: RATOS, NANISMO, GENÉTICA (TERAPIA), SOMATOMEDINAS, HORMÔNIO DO CRESCIMENTO
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
CECCHI, Claudia R. et al. A Novel Homologous Model for Gene Therapy of Dwarfism by Non-Viral Transfer of the Mouse Growth Hormone Gene into Immunocompetent Dwarf Mice. Current Gene Therapy, v. 14, n. 1, p. 44-51, 2014Tradução . . Disponível em: https://doi.org/10.2174/1566523214666140224112039. Acesso em: 19 jul. 2025.
APA
Cecchi, C. R., Higuti, E., Oliveira, N. A. J., Lima, E. R., Jakobsen, M., Dagnaes-Hansen, F., et al. (2014). A Novel Homologous Model for Gene Therapy of Dwarfism by Non-Viral Transfer of the Mouse Growth Hormone Gene into Immunocompetent Dwarf Mice. Current Gene Therapy, 14( 1), 44-51. doi:10.2174/1566523214666140224112039
NLM
Cecchi CR, Higuti E, Oliveira NAJ, Lima ER, Jakobsen M, Dagnaes-Hansen F, Gissel H, Aagaard L, Jensen TG, Jorge AAL, Bartolini P, Peroni CN. A Novel Homologous Model for Gene Therapy of Dwarfism by Non-Viral Transfer of the Mouse Growth Hormone Gene into Immunocompetent Dwarf Mice [Internet]. Current Gene Therapy. 2014 ; 14( 1): 44-51.[citado 2025 jul. 19 ] Available from: https://doi.org/10.2174/1566523214666140224112039
Vancouver
Cecchi CR, Higuti E, Oliveira NAJ, Lima ER, Jakobsen M, Dagnaes-Hansen F, Gissel H, Aagaard L, Jensen TG, Jorge AAL, Bartolini P, Peroni CN. A Novel Homologous Model for Gene Therapy of Dwarfism by Non-Viral Transfer of the Mouse Growth Hormone Gene into Immunocompetent Dwarf Mice [Internet]. Current Gene Therapy. 2014 ; 14( 1): 44-51.[citado 2025 jul. 19 ] Available from: https://doi.org/10.2174/1566523214666140224112039
Artigo de periodico
Role of gonadotropin-releasing hormone receptor mutations in patients with a wide spectrum of pubertal delay (2014)
Beneduzzi, Daiane; Trarbach, Ericka B.; Min, Le; Jorge, Alexander A. L.; Garmes, Heraldo M.; Renk, Alessandra Covallero; Fichna, Marta; Fichna, Piotr; Arantes, Karina A.; Costa, Elaine M. F.; Zhang, Anna; Adeola, Oluwaseun; Wen, Junping; Carroll, Rona S.; Mendonça, Berenice B.; Kaiser, Ursula B.; Latronico, , Ana Claudia; Silveira, Letícia F. G.
Source: Fertility and Sterility. Unidade: FM
Subjects: MUTAÇÃO GENÉTICA, PUBERDADE, HIPOGONADISMO
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
BENEDUZZI, Daiane et al. Role of gonadotropin-releasing hormone receptor mutations in patients with a wide spectrum of pubertal delay. Fertility and Sterility, v. 102, n. 3, p. 838-846, 2014Tradução . . Disponível em: https://doi.org/10.1016/j.fertnstert.2014.05.044. Acesso em: 19 jul. 2025.
APA
Beneduzzi, D., Trarbach, E. B., Min, L., Jorge, A. A. L., Garmes, H. M., Renk, A. C., et al. (2014). Role of gonadotropin-releasing hormone receptor mutations in patients with a wide spectrum of pubertal delay. Fertility and Sterility, 102( 3), 838-846. doi:10.1016/j.fertnstert.2014.05.044
NLM
Beneduzzi D, Trarbach EB, Min L, Jorge AAL, Garmes HM, Renk AC, Fichna M, Fichna P, Arantes KA, Costa EMF, Zhang A, Adeola O, Wen J, Carroll RS, Mendonça BB, Kaiser UB, Latronico, Silveira LFG. Role of gonadotropin-releasing hormone receptor mutations in patients with a wide spectrum of pubertal delay [Internet]. Fertility and Sterility. 2014 ; 102( 3): 838-846.[citado 2025 jul. 19 ] Available from: https://doi.org/10.1016/j.fertnstert.2014.05.044
Vancouver
Beneduzzi D, Trarbach EB, Min L, Jorge AAL, Garmes HM, Renk AC, Fichna M, Fichna P, Arantes KA, Costa EMF, Zhang A, Adeola O, Wen J, Carroll RS, Mendonça BB, Kaiser UB, Latronico, Silveira LFG. Role of gonadotropin-releasing hormone receptor mutations in patients with a wide spectrum of pubertal delay [Internet]. Fertility and Sterility. 2014 ; 102( 3): 838-846.[citado 2025 jul. 19 ] Available from: https://doi.org/10.1016/j.fertnstert.2014.05.044
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
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
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: 19 jul. 2025.
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 2025 jul. 19 ] 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 2025 jul. 19 ] Available from: https://doi.org/10.1016/j.ghir.2014.07.001
Artigo de periodico
The E180splice mutation in the GHR gene causing Laron syndrome: Witness of a Sephardic Jewish exodus from the Iberian Peninsula to the New World? (2014)
Gonçalves, Fernanda T.; Fridman, Cintia; Pinto, Emília M.; Guevara-Aguirre, Jaime; Shevah, Orit; Rosembloom, Arlan L.; Hwa, Vivian; Cassorla, Fernando; Rosenfeld, Ron G.; Lins, Theresa S. S.; Damiani, Durval; Arnhold, Ivo J. P.; Laron, Zvi; Jorge, Alexander A. L.
Source: American journal of medical genetics part. A. Unidade: FM
Subjects: MUTAÇÃO GENÉTICA, HORMÔNIO DO CRESCIMENTO (DEFICIÊNCIA)
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
GONÇALVES, Fernanda T. et al. The E180splice mutation in the GHR gene causing Laron syndrome: Witness of a Sephardic Jewish exodus from the Iberian Peninsula to the New World?. American journal of medical genetics part. A, v. 164A, n. 5, p. 1204\20131208, 2014Tradução . . Disponível em: http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.36444/pdf. Acesso em: 19 jul. 2025.
APA
Gonçalves, F. T., Fridman, C., Pinto, E. M., Guevara-Aguirre, J., Shevah, O., Rosembloom, A. L., et al. (2014). The E180splice mutation in the GHR gene causing Laron syndrome: Witness of a Sephardic Jewish exodus from the Iberian Peninsula to the New World? American journal of medical genetics part. A, 164A( 5), 1204\20131208. doi:10.1002/ajmg.a.36444
NLM
Gonçalves FT, Fridman C, Pinto EM, Guevara-Aguirre J, Shevah O, Rosembloom AL, Hwa V, Cassorla F, Rosenfeld RG, Lins TSS, Damiani D, Arnhold IJP, Laron Z, Jorge AAL. The E180splice mutation in the GHR gene causing Laron syndrome: Witness of a Sephardic Jewish exodus from the Iberian Peninsula to the New World? [Internet]. American journal of medical genetics part. A. 2014 ; 164A( 5): 1204\20131208.[citado 2025 jul. 19 ] Available from: http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.36444/pdf
Vancouver
Gonçalves FT, Fridman C, Pinto EM, Guevara-Aguirre J, Shevah O, Rosembloom AL, Hwa V, Cassorla F, Rosenfeld RG, Lins TSS, Damiani D, Arnhold IJP, Laron Z, Jorge AAL. The E180splice mutation in the GHR gene causing Laron syndrome: Witness of a Sephardic Jewish exodus from the Iberian Peninsula to the New World? [Internet]. American journal of medical genetics part. A. 2014 ; 164A( 5): 1204\20131208.[citado 2025 jul. 19 ] Available from: http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.36444/pdf

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