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Refinado por: assunto: Goiter - Genetics remover
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1
Metastatic thyroid carcinoma arising from congenital goiter due to mutation in the thyroperoxidase gene
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Metastatic thyroid carcinoma arising from congenital goiter due to mutation in the thyroperoxidase gene

MEDEIROS-NETO, G ; GIL-DA-COSTA, M. J ; SANTOS, C. L. S ; MEDINA, A. M ; COSTA E SILVA, J ; TSOU, R. M ; SOBRINHO-SIMOES, M

The journal of clinical endocrinology and metabolism, 1998-11, Vol.83 (11), p.4162-4166 [Periódico revisado por pares]

Bethesda, MD: Endocrine Society

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2
Phenocopies for deafness and goiter development in a large inbred Brazilian kindred with Pendred's syndrome associated with a novel mutation in the PDS gene
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Phenocopies for deafness and goiter development in a large inbred Brazilian kindred with Pendred's syndrome associated with a novel mutation in the PDS gene

KOPP, P ; ARSEVEN, O. K ; SABACAN, L ; KOTLAR, T ; DUPUIS, J ; CAVALIERE, H ; SANTOS, C. L. S ; JAMESON, J. L ; MEDEIROS-NETO, G

The journal of clinical endocrinology and metabolism, 1999, Vol.84 (1), p.336-341 [Periódico revisado por pares]

Bethesda, MD: Endocrine Society

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3
Clinical and molecular analysis of three Mexican families with Pendred's syndrome
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Clinical and molecular analysis of three Mexican families with Pendred's syndrome

GONZALEZ TREVINO, O ; KARAMANOGLU ARSEVEN, O ; CEBALLOS, C. J ; VIVES, V. I ; RAMIREZ, R. C ; GOMEZ, V. V ; MEDEIROS-NETO, G ; KOPP, P

European journal of endocrinology, 2001-06, Vol.144 (6), p.585-593 [Periódico revisado por pares]

Colchester: Portland Press

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4
Naturally Occurring Mutations in the Thyroglobulin Gene
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Naturally Occurring Mutations in the Thyroglobulin Gene

Vono-Toniolo, Jussara ; Rivolta, Carina M. ; Targovnik, Héctor M. ; Medeiros-Neto, Geraldo ; Kopp, Peter

Thyroid (New York, N.Y.), 2005-09, Vol.15 (9), p.121-1033 [Periódico revisado por pares]

United States: Mary Ann Liebert, Inc

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5
Two Distinct Compound Heterozygous Constellations (R277X/IVS34–1G>C and R277X/R1511X) in the Thyroglobulin (TG) Gene in Affected Individuals of a Brazilian Kindred with Congenital Goiter and Defective TG Synthesis
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Two Distinct Compound Heterozygous Constellations (R277X/IVS34–1G>C and R277X/R1511X) in the Thyroglobulin (TG) Gene in Affected Individuals of a Brazilian Kindred with Congenital Goiter and Defective TG Synthesis

Gutnisky, Viviana J ; Moya, Christian M ; Rivolta, Carina M ; Domené, Sabina ; Varela, Viviana ; Toniolo, Jussara V ; Medeiros-Neto, Geraldo ; Targovnik, Héctor M

The journal of clinical endocrinology and metabolism, 2004-02, Vol.89 (2), p.646-657 [Periódico revisado por pares]

Bethesda, MD: Endocrine Society

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6
Thyroperoxidase Gene Mutations in Congenital Goitrous Hypothyroidism with Total and Partial Iodide Organification Defect
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Thyroperoxidase Gene Mutations in Congenital Goitrous Hypothyroidism with Total and Partial Iodide Organification Defect

Nascimento, Antonio C. ; Guedes, Dulce R. ; Santos, Cecilia S. ; Knobel, Meyer ; Rubio, Ileana G.S. ; Medeiros-Neto, Geraldo

Thyroid (New York, N.Y.), 2003-12, Vol.13 (12), p.1145-1151 [Periódico revisado por pares]

United States: Mary Ann Liebert, Inc

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7
Congenital Goiter with Hypothyroidism Caused by a 5′ Splice Site Mutation in the Thyroglobulin Gene
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Congenital Goiter with Hypothyroidism Caused by a 5′ Splice Site Mutation in the Thyroglobulin Gene

Targovnik, Héctor M. ; Rivolta, Carina M. ; Mendive, Fernando M. ; Moya, Christian M. ; Vono, Jussara ; Medeiros-Neto, Geraldo

Thyroid (New York, N.Y.), 2001-07, Vol.11 (7), p.685-690 [Periódico revisado por pares]

United States: Mary Ann Liebert, Inc

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8
Aggressive Metastatic Follicular Thyroid Carcinoma with Anaplastic Transformation Arising from a Long-Standing Goiter in a Patient with Pendred's Syndrome
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Aggressive Metastatic Follicular Thyroid Carcinoma with Anaplastic Transformation Arising from a Long-Standing Goiter in a Patient with Pendred's Syndrome

Camargo, Rosalinda ; Limbert, Eduardo ; Gillam, Mary ; Henriques, Maria Manuela ; Fernandes, Carlos ; Catarino, Ana Luisa ; Soares, Jorge ; Alves, Venancio A.F. ; Kopp, Peter ; Medeiros-Neto, Geraldo

Thyroid (New York, N.Y.), 2001-10, Vol.11 (10), p.981-988 [Periódico revisado por pares]

United States: Mary Ann Liebert, Inc

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9
Defective Organification of Iodide Causing Hereditary Goitrous Hypothyroidism
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Defective Organification of Iodide Causing Hereditary Goitrous Hypothyroidism

Medeiros-Neto, G A ; Billerbeck, A E ; Wajchenberg, B L ; Targovnik, H M

Thyroid (New York, N.Y.), 1993, Vol.3 (2), p.143-159 [Periódico revisado por pares]

United States

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10
Clinical and Molecular Genetics Studies in Pendred's Syndrome
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Clinical and Molecular Genetics Studies in Pendred's Syndrome

Billerbeck, A E ; Cavaliere, H ; Goldberg, A C ; Kalil, J ; Medeiros-Neto, G

Thyroid (New York, N.Y.), 1994, Vol.4 (3), p.279-284 [Periódico revisado por pares]

United States

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