Publications by authors named "Magnus R Dias da Silva"

60Publications

Spontaneous fertility and variable spectrum of reproductive phenotype in a family with adult-onset X-linked adrenal insufficiency harboring a novel DAX-1/NR0B1 mutation.

BMC Endocr Disord 2020 Feb 6;20(1):21. Epub 2020 Feb 6.

Department of Medicine, Division of Endocrinology, Escola Paulista de Medicina, Laboratory of Molecular and Translational Endocrinology, Universidade Federal de São Paulo, Rua Pedro de Toledo 669, Sao Paulo, SP, 04039-032, Brazil.

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February 2020

Retroposed copies of RET gene: a somatically acquired event in medullary thyroid carcinoma.

BMC Med Genomics 2019 07 9;12(1):104. Epub 2019 Jul 9.

Laboratório As Bases Genéticas dos Tumores da Tiroide, Universidade Federal de São Paulo, São Paulo, SP, Brazil.

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July 2019

Maternal bisphenol A exposure disrupts spermatogenesis in adult rat offspring.

J Toxicol Environ Health A 2019 12;82(3):163-175. Epub 2019 Feb 12.

a Laboratory of Reproductive Toxicology, Department of Pharmacy , State University of Centro-Oeste , Parana , Brazil.

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January 2020

A novel GNRHR gene mutation causing congenital hypogonadotrophic hypogonadism in a Brazilian kindred.

J Neuroendocrinol 2018 12 19;30(12):e12658. Epub 2018 Dec 19.

Laboratory of Molecular and Translational Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil.

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December 2018

Assessing the clinical and molecular diagnosis of inherited forms of impaired sensitivity to thyroid hormone from a single tertiary center.

Endocrine 2018 12 19;62(3):628-638. Epub 2018 Jul 19.

Laboratory of Molecular and Translational Endocrinology, Division of Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil.

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December 2018

Novel lincRNA Susceptibility Gene and Its Role in Etiopathogenesis of Thyrotoxic Periodic Paralysis.

J Endocr Soc 2017 Jul 28;1(7):809-815. Epub 2017 Feb 28.

Laboratory of Molecular and Translational Endocrinology, Department of Medicine, Universidade Federal de São Paulo, São Paulo, 04039-032, Brazil.

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July 2017

Novel immunoassay for TSH measurement in rats.

Arch Endocrinol Metab 2017 Sept-Oct;61(5):460-463. Epub 2017 Sep 18.

Laboratório de Endocrinologia Molecular e Translacional, Divisão de Endocrinologia, Departamento de Medicina, Universidade Federal de São Paulo (Unifesp), São Paulo, SP, Brasil.

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February 2018

DUOX2 Mutations Are Associated With Congenital Hypothyroidism With Ectopic Thyroid Gland.

J Clin Endocrinol Metab 2017 11;102(11):4060-4071

Laboratory of Molecular and Translational Endocrinology, Department of Medicine, Universidade Federal de São Paulo, São Paulo 04039-032, Brazil.

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November 2017

Down-regulation of Kir2.6 channel by c-termini mutation D252N and its association with the susceptibility to Thyrotoxic Periodic Paralysis.

Neuroscience 2017 03 25;346:197-202. Epub 2017 Jan 25.

Laboratório de Neurobiologia Estrutural e Funcional, Departamento de Biofísica, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brazil. Electronic address:

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March 2017

M918V RET mutation causes familial medullary thyroid carcinoma: study of 8 affected kindreds.

Endocr Relat Cancer 2016 12;23(12):909-920

Department of MedicineThyroid Diseases Center and Laboratory of Molecular and Translational Endocrinology, Division of Endocrinology, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brazil

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December 2016

Whole genome and exome sequencing realignment supports the assignment of KCNJ12, KCNJ17, and KCNJ18 paralogous genes in thyrotoxic periodic paralysis locus: functional characterization of two polymorphic Kir2.6 isoforms.

Mol Genet Genomics 2016 Aug 23;291(4):1535-44. Epub 2016 Mar 23.

Laboratory of Molecular and Translational Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, Rua Pedro de Toledo, 669, 11° andar, São Paulo, SP, 04039-032, Brazil.

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August 2016

An approach to the diagnosis and management of a case presenting with recurrent hypomagnesemia secondary to the chronic use of a proton pump inhibitor.

Magnes Res 2015 Dec;28(4):136-45

Laboratory of Molecular and Translational Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, Brazil.

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December 2015

Analysis of somatic mutations in BRAF, CDKN2A/p16 and PI3KCA in patients with medullary thyroid carcinoma.

Mol Med Rep 2016 Feb 29;13(2):1653-60. Epub 2015 Dec 29.

Laboratory of Molecular and Translational Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, Sao Paulo 04039‑032, Brazil.

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February 2016

Macrocalcitonin Is a Novel Pitfall in the Routine of Serum Calcitonin Immunoassay.

J Clin Endocrinol Metab 2016 Feb 8;101(2):653-8. Epub 2015 Dec 8.

Thyroid Disease Center and Laboratory of Molecular and Translational Endocrinology (T.G.A., T.S.K., J.H.Y., I.S.K., S.C.L., C.P.C., M.R.D.d.S., R.M.B.M., J.G.H.V., J.R.M.M.), Division of Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, 04039-032 São Paulo, SP, Brazil; and Molecular Biology Division (T.G.A., M.C.Z.M., A.M., J.R.M.M.), Department of Biochemistry, Escola Paulista de Medicina, Universidade Federal de São Paulo, 04044-020 São Paulo, SP, Brazil.

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February 2016

Pitfalls in the diagnosis of frameshift mutations in the glucokinase (GCK) gene and the contribution of an additional cloning sequencing tool.

Diabetes Res Clin Pract 2015 Apr 24;108(1):e3-4. Epub 2015 Jan 24.

Laboratory of Molecular and Translacional Endocrinology, Universidade Federal de São Paulo (UNIFESP), Brazil; Diabetes Center, Universidade Federal de São Paulo (UNIFESP), Brazil. Electronic address:

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April 2015

Integration of a postoperative calcitonin measurement into an anatomical staging system improves initial risk stratification in medullary thyroid cancer.

Clin Endocrinol (Oxf) 2015 Dec 19;83(6):938-42. Epub 2014 Dec 19.

Laboratory of Molecular and Translational Endocrinology, Division of Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brazil.

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December 2015

Three unreported glucokinase (GCK) missense mutations detected in the screening of thirty-two Brazilian kindreds for GCK and HNF1A-MODY.

Diabetes Res Clin Pract 2014 Nov 12;106(2):e44-8. Epub 2014 Aug 12.

Laboratory of Molecular and Translacional Endocrinology, Universidade Federal de São Paulo (UNIFESP), Brazil; Diabetes Center, Universidade Federal de São Paulo (UNIFESP), Brazil. Electronic address:

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November 2014

The insulin-sensitivity sulphonylurea receptor variant is associated with thyrotoxic paralysis.

J Mol Endocrinol 2014 Oct 20;53(2):295-301. Epub 2014 Aug 20.

Laboratory of Molecular and Translational EndocrinologyDepartment of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo (UNIFESP), Rua Pedro de Toledo, 669, 11° andar, 04039-032 São Paulo, SP, Brazil

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October 2014

Development and application of a novel sensitive immunometric assay for calcitonin in a large cohort of patients with medullary and differentiated thyroid cancer, thyroid nodules, and autoimmune thyroid diseases.

Eur Thyroid J 2014 Jun 18;3(2):117-24. Epub 2014 Jun 18.

Laboratory of Molecular and Translational Endocrinology, Division of Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, Brazil ; Fleury Medicine and Health, São Paulo, Brazil.

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June 2014

Molecular cloning of ion channels in Felis catus that are related to periodic paralyses in man: a contribution to the understanding of the genetic susceptibility to feline neck ventroflexion and paralysis.

Biol Open 2014 Jul 25;3(9):785-93. Epub 2014 Jul 25.

Laboratory of Molecular and Translational Endocrinology, Division of Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo 04039032, SP, Brazil

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July 2014

Extended RET gene analysis in patients with apparently sporadic medullary thyroid cancer: clinical benefits and cost.

Horm Cancer 2012 Aug 31;3(4):181-6. Epub 2012 May 31.

Laboratory of Molecular and Translational Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, São Paulo 04039-032, Brazil.

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August 2012

Autoimmune polyendocrine syndrome type 1: case report and review of literature.

Arq Bras Endocrinol Metabol 2012 Feb;56(1):54-66

Bone and Mineral Unit, Division of Endocrinology, Escola Paulista de Medicina, Universidade Federal de São Paulo, Brazil.

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February 2012

Novel etiopathophysiological aspects of thyrotoxic periodic paralysis.

Nat Rev Endocrinol 2011 May 10;7(11):657-67. Epub 2011 May 10.

Department of Medicine, Universidade Federal de São Paulo, Rua Pedro de Toledo, São Paulo, Brazil.

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May 2011

Ion channelopathies in endocrinology: recent genetic findings and pathophysiological insights.

Arq Bras Endocrinol Metabol 2010 Nov;54(8):673-81

Laboratório de Endocrinologia Molecular e Translacional, Departamento de Medicina, Universidade Federal de São Paulo, Escola Paulista de Medicina, SP, Brazil.

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November 2010

Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis.

Cell 2010 Jan;140(1):88-98

Neuroscience Graduate Program, University of California, San Francisco, San Francisco, CA, 94158, USA; Department of Neurology, University of California, San Francisco, San Francisco, CA, 94158, USA.

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January 2010

Getting your report seen in and beyond ABE&M.

Arq Bras Endocrinol Metabol 2008 Nov;52(8):1203-4

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November 2008

Murine retroviruses re-engineered for lineage tracing and expression of toxic genes in the developing chick embryo.

Dev Dyn 2008 Nov;237(11):3260-9

Department of Neurosurgery, University of California, San Francisco, California 94143, USA.

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November 2008

The natural history of the R120C PROP1 mutation reveals a wide phenotypic variability in two untreated adult brothers with combined pituitary hormone deficiency.

Endocrine 2006 Dec;30(3):365-9

Division of Endocrinology, Department of Medicine, Universidade Federal de São Paulo-UNIFESP, São Paulo, Brazil.

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December 2006

FGF-mediated induction of ciliary body tissue in the chick eye.

Dev Biol 2007 Apr 21;304(1):272-85. Epub 2006 Dec 21.

Department of Neurosurgery, Box 0520, University of California, San Francisco, CA 94143, USA.

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April 2007

[Thyrotoxic hypokalemic periodic paralysis, an endocrine emergency: clinical and genetic features in 25 patients].

Arq Bras Endocrinol Metabol 2004 Feb 1;48(1):196-215. Epub 2004 Jun 1.

Laboratório de Endocrinologia Molecular, Centro de Pesquisas do Genoma J.F. Perez, Departamento de Morfologia, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP.

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February 2004

A novel germ-line point mutation in RET exon 8 (Gly(533)Cys) in a large kindred with familial medullary thyroid carcinoma.

J Clin Endocrinol Metab 2003 Nov;88(11):5438-43

Laboratory of Molecular Endocrinology, Division of Endocrinology, Department of Medicine, Escola Paulist de Medicina, Federal University of São Paulo, Brazil.

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November 2003

A mutation in the KCNE3 potassium channel gene is associated with susceptibility to thyrotoxic hypokalemic periodic paralysis.

J Clin Endocrinol Metab 2002 Nov;87(11):4881-4

Laboratory of Molecular Endocrinology, Division of Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, Rua Pedro de Toledo 781, 04039-032 São Paulo, SP, Brazil.

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November 2002

Mutations linked to familial hypokalaemic periodic paralysis in the calcium channel alpha1 subunit gene (Cav1.1) are not associated with thyrotoxic hypokalaemic periodic paralysis.

Clin Endocrinol (Oxf) 2002 Mar;56(3):367-75

Department of Medicine, Laboratory of Molecular Endocrinology, Division of Endocrinology, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brazil.

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March 2002