Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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1 |
Material Type: Artigo
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Exome sequencing reveals the POLR3H gene as a novel cause of primary ovarian insufficiencyMonica M Franca Xingfa Han; Mariana F. A Funari; Antonio M Lerario; Mirian Y Nishi; Eveline G. P Fontenele; Sorahia Domenice; Alexander Augusto de Lima Jorge; David Garcia-galiano; Berenice Bilharinho de MendonçaJournal of clinical endocrinology & metabolism v. 104, n. 7, p. 2827-2841, 2019Washington 2019Acesso online. A biblioteca também possui exemplares impressos. |
2 |
Material Type: Artigo
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A novel homozygous 1-bp deletion in the NOBOX gene in two Brazilian sisters with primary ovarian failureMonica M. Franca Mariana F. A Funari; Antonio M Lerario; Mirian Y Nishi; Carmen C Pita; Eveline G. P Fontenele; Berenice Bilharinho de MendonçaEndocrine v. 58, n. 3, p. 442-447, 2017New York 2017Localização: FM - Fac. Medicina (OPI 24178 2017 )(Acessar) |
3 |
Material Type: Artigo
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The Sitting Height/Height Ratio for Age in Healthy and Short Individuals and Its Potential Role in Selecting Short Children for SHOX AnalysisA. C. Malaquias R. C Scalco; E. G. P Fontenele; E. F Costalonga; A. D Baldin; A. F Braz; M. F. A Funari; M. Y Nishi; G Guerra-Junior; B. B Mendonca; I. J. P Arnhold; A. A. L JorgeHormone Research in Paediatrics Basel v. 80, n. 6 p. 449-456, 2013Basel 2013Acesso online. A biblioteca também possui exemplares impressos. |
4 |
Material Type: Artigo
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Heterozygous Mutations in Natriuretic Peptide Receptor-B (NPR2) Gene as a Cause of Short Stature in Patients Initially Classified as Idiopathic Short StatureGabriela A. Vasques Naoko Amano ADocko, na J.; Mariana F. A Funari; Elisangela P. S Quedas; Mirian Y Nishi; Ivo J. P Arnhold; Tomonobu Hasegawa; Alexander A. L JorgeThe Journal of Clinical Endocrinology & Metabolism Springfield v. 98, n. 10, p. E1636-E1644, 2013Springfield 2013Localização: FM - Fac. Medicina (BCSEP 054 2013 )(Acessar) |
5 |
Material Type: Artigo de Congresso
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The sitting heigh/height ratio for age is a simple and useful tool to select children with idiopathic short stature for SHOX studiesAlexsandra C. Malaquias Eveline G. P Fontenele; Everlayny F Costalonga; Renata C Scalcao; Mariana F. A Funari; Mirian Nishi; Ivo J.P Arnhold; Alexander Augusto de Lima Jorge; Berenice Bilharinho de Mendonça; European Society for Paediatric Endocrinology (ESPE)/ Joint Meeting (9. 2013 Milan, Italy)Hormone Research in Paediatrics Basel v. 80, suppl. 1, p. 161, res. P1-d2-482, 2013Basel 2013Localização: FM - Fac. Medicina (BCSEP 418 2013 )(Acessar) |
6 |
Material Type: Artigo
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Effectveness of the combined recombinant human growth hormone and gonadotropin-releaseng hormone analog therapy in pubertal patients with short stature due to SHOX deficiencyRenata C Scalco Suzana S. J Melo; Patricia N. Pugliese Pires; Mariana F. A Funari; Mirian Y Nishi; Ivo J. P Arnhold; Berenice Bilharinho de Mendonça; Alexander A. L JorgeThe journal and clinical endocrinology and metabolism Springfield v. 95, n. 1, p. 328-332, 2010Springfield 2010Emprestado de FM - Fac. Medicina (BCSEP 004 2010 )(Acessar) |
7 |
Material Type: Artigo
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Effectveness of the combined recombinant human growth hormone and gonadotropin-releaseng hormone analog therapy in pubertal patients with short stature due to SHOX deficiencyRenata C Scalco Suzana S. J Melo; Patricia N. Pugliese Pires; Mariana F. A Funari; Mirian Y Nishi; Ivo J. P Arnhold; Berenice Bilharinho de Mendonça; Alexander A. L JorgeThe journal and clinical endocrinology and metabolism Springfield v. 95, n. 1, p. 328-332, 2010Springfield 2010Emprestado de FM - Fac. Medicina (BCSEP 004 2010 )(Acessar) |
8 |
Material Type: Artigo
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Usefulness of MLPA in the detection of SHOX deletionsMariana F. A. Funari Alexander A. L Jorge; Silvia C. A. L Souza; Ana E. C Billerbeck; Ivo J. P Arnhold; Berenice B Mendonca; Mirian Y NishiEuropean Journal of Medical Genetics v. 53, n. 5, p. 234-238, 2010Paris 2010Localização: FM - Fac. Medicina (BCSEP 282 2010 )(Acessar) |
9 |
Material Type: Artigo
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Usefulness of MLPA in the detection of SHOX deletionsMariana F. A. Funari Alexander A. L Jorge; Silvia C. A. L Souza; Ana E. C Billerbeck; Ivo J. P Arnhold; Berenice B Mendonca; Mirian Y NishiEuropean Journal of Medical Genetics v. 53, n. 5, p. 234-238, 2010Paris 2010Localização: FM - Fac. Medicina (BCSEP 282 2010 )(Acessar) |
10 |
Material Type: Artigo
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Cryptic intragenic deletion of the SHOX gene in a family with Léri-Weill dyschondrosteosis detected by Multiplex Ligation-Dependent Probe Amplification (MLPA)Mariana F. A. Funari Alexander A. L Jorge; Emilia M Pinto; Ivo J. P Arnhold; Berenice B Mendonca; Mirian Y NishiArquivos Brasileiros de Endocrinologia e Metabologia São Paulo v. 52, n. 8, p. 1382-1387, 2008São Paulo 2008Localização: FM - Fac. Medicina (BCSEP 126 2008 )(Acessar) |