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List of works by Magnus R Dias-da-Silva

A novel GNRHR gene mutation causing Congenital Hypogonadotropic Hypogonadism (CHH) in a Brazilian Kindred

article

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

scientific article published in December 2015

Author Correction: Levonorgestrel correlates with less weight gain than other progestins during hormonal replacement therapy in Turner Syndrome patients

scientific article published on 28 July 2020

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

scientific article published on February 1, 2012

DUOX2 Mutations Are Associated With Congenital Hypothyroidism With Ectopic Thyroid Gland

scientific article published on 28 June 2017

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

scientific article

Evidence for the founder effect of RET533 as the common Greek and Brazilian ancestor spreading multiple endocrine neoplasia 2A.

scientific article

First report of a de novo mutation at SLC20A2 in a patient with brain calcification

scientific article published on 27 June 2014

Hypomagnesemia with Hypercalciuria Leading to Nephrocalcinosis, Amelogenesis Imperfecta, and Short Stature in a Child Carrying a Homozygous Deletion in the CLDN16 Gene

scientific article published on 24 July 2020

Insights into the posttranslational structural heterogeneity of thyroglobulin and its role in the development, diagnosis, and management of benign and malignant thyroid diseases

scientific article

Intergenerational thyroid hormone homeostasis imbalance in cerebellum of rats perinatally exposed to glyphosate‐based herbicide

scientific article published in 2021

Lack of decussation of pyramids in Kallmann syndrome presenting with mirror movements

scientific article published on 23 November 2016

Levonorgestrel correlates with less weight gain than other progestins during hormonal replacement therapy in Turner Syndrome patients

scientific article published on 19 May 2020

Measurement of Calcitonin and Calcitonin Gene–Related Peptide mRNA Refines the Management of Patients with Medullary Thyroid Cancer and May Replace Calcitonin-Stimulation Tests ⬇️

scientific article published on March 1, 2013

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

scientific article published on 25 July 2014

Novel homozygous ALX4 mutation causing frontonasal dysplasia-2 in a patient with meningoencephalocele

scientific article published on 11 May 2015

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

scientific article

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

scientific article published on 06 February 2020

The Natural History of a Man With Ovotesticular 46,XX DSD Caused by a Novel 3-Mb 15q26.2 Deletion Containing NR2F2 Gene

scientific article published on 28 August 2019

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

scientific article published on 12 August 2014

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