I. Kunii

发表

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

D. Mazzotti, M. Dias-da-Silva, M. M. L. Kizys, 2016, Molecular Genetics and Genomics.

Genotype and phenotype landscape of MEN2 in 554 medullary thyroid cancer patients: the BrasMEN study

Tânia B Ferraz, N. Bufalo, L. Ward, 2019, Endocrine connections.

Comprehensive analysis of RET gene should be performed in patients with multiple endocrine neoplasia type 2 (MEN 2) syndrome and no apparent genotype-phenotype correlation: An appraisal of p.Y791 F and p.C634Y RET mutations in five unrelated Brazilian families

J. Cerutti, R. M. Maciel, A. U. Bastos, 2013, Journal of Endocrinological Investigation.

Extended RET Gene Analysis in Patients with Apparently Sporadic Medullary Thyroid Cancer: Clinical Benefits and Cost

M. Dias-da-Silva, J. Cerutti, R. Delcelo, 2012, Hormones and Cancer.

Intelligence Quotient Variability in Klinefelter Syndrome Is Associated With GTPBP6 Expression Under Regulation of X-Chromosome Inactivation Pattern

M. I. Melaragno, C. B. de Mello, A. C. Vidi, 2021, Frontiers in Genetics.

Low iodine diet does not improve the efficacy of radioiodine for the treatment of Graves' disease.

J. Vieira, M. Castiglioni, M. Dias-da-Silva, 2015, Archives of endocrinology and metabolism.

Cognitive and Psychiatric Evaluation in SYNE1 Ataxia

G. Rouleau, A. Gadelha, J. Pedroso, 2019, The Cerebellum.

Thyroid stimulating hormone levels in cord blood are not influenced by non-thyroidal mothers' diseases.

L. Ward, I. Kunii, R. M. de Barros Maciel, 2000, Sao Paulo medical journal = Revista paulista de medicina.

Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutation.

A. Chacra, R. Maciel, I. Kunii, 2012, Arquivos brasileiros de endocrinologia e metabologia.

Severe hypercalcemia in a 9-year-old Brazilian girl due to a novel inactivating mutation of the calcium-sensing receptor.

D. Damiani, N. Setian, I. Kunii, 2004, The Journal of clinical endocrinology and metabolism.

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

J. Vieira, T. Kasamatsu, S. Lindsey, 2016, The Journal of clinical endocrinology and metabolism.

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

M. Dias-da-Silva, M. M. L. Kizys, R. Delcelo, 2016, Molecular medicine reports.

Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutation Seguimento clínico de dois pacientes brasileiros com MODY- glicoquinase (MODY2) e descrição de uma nova mutação

Escola Paulista de Medicina, I. Kunii, G. Furuzawa, 2012 .

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

S. Silveiro, M. Dias-da-Silva, C. Bulcão, 2014, Diabetes research and clinical practice.

A novel glucokinase deletion (p.Lys32del) and five previously described mutations co-segregate with the phenotype of mild familial hyperglycaemia (MODY2) in Brazilian families.

M. Dias-da-Silva, F. Giuffrida, Pedro Saddi-Rosa, 2013, Diabetes research and clinical practice.

Copy number variation in pituitary stalk interruption syndrome: A large case series of sporadic non‐syndromic patients and literature review

J. Abucham, M. Mitne-Neto, M. Dias-da-Silva, 2022, Journal of neuroendocrinology.

Thyroid suppression test with a single oral dose of levothyroxine in the diagnosis of functional thyroid autonomy.

R. Maciel, R. Furlanetto, I. Kunii, 1999, Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists.

Optimizing nucleic acid extraction from thyroid fine-needle aspiration cells in stained slides, formalin-fixed/paraffin-embedded tissues, and long-term stored blood samples.

F. Soares, M. Dias-da-Silva, M. M. L. Kizys, 2012, Arquivos brasileiros de endocrinologia e metabologia.

[Comparison of two strategies for the early detection of congenital hypothyroidism].

J. Vieira, L. Ward, R. Magalhães, 1998, Revista da Associacao Medica Brasileira.

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

F. Crispim, M. Dias-da-Silva, S. Lindsey, 2014, Journal of molecular endocrinology.

Outcome of thyroid function in newborns from mothers treated with amiodarone.

L. Matsumura, R. Maciel, I. Kunii, 1992, Thyroid : official journal of the American Thyroid Association.

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

R. Maciel, R. M. Paninka, I. Kunii, 2014, Biology Open.

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

M. Dias-da-Silva, I. Kunii, N. Rassi, 2020, BMC Endocrine Disorders.

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

Aline Fujikawa, F. Soares, M. Chiamolera, 2010, Arquivos brasileiros de endocrinologia e metabologia.

Early diagnosis of multiple endocrine neoplasia type 2B: a challenge for physicians.

J. Cerutti, A. Hoff, S. Lindsey, 2008, Arquivos brasileiros de endocrinologia e metabologia.

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

M. Dias-da-Silva, M. M. L. Kizys, A. C. Vidi, 2017, Journal of the Endocrine Society.

CLINICAL CASE SEMINAR Severe Hypercalcemia in a 9-Year-Old Brazilian Girl Due to a Novel Inactivating Mutation of the Calcium-Sensing Receptor

D. Damiani, N. Setian, I. Kunii, 2004 .

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

L. L. Cunha, M. Dias-da-Silva, T. Kasamatsu, 2016, Endocrine-related cancer.

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

M. Dias-da-Silva, M. M. L. Kizys, M. Chiamolera, 2018, Endocrine.

Cognitive and Psychiatric Evaluation in SYNE1 Ataxia

G. Rouleau, A. Gadelha, O. Barsottini, 2019, The Cerebellum.

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

M. Dias-da-Silva, S. Lindsey, R. M. Paninka, 2017, Neuroscience.

A pioneering RET genetic screening study in the State of Ceará, Brazil, evaluating patients with medullary thyroid cancer and at-risk relatives: experience with 247 individuals

L. L. Cunha, M. Dias-da-Silva, C. Camacho, 2018, Archives of endocrinology and metabolism.

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

L. L. Cunha, M. Alevizaki, M. Dias-da-Silva, 2017, European journal of endocrinology.