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Publications by José Pires Soares

Mutation Screening of the Thyroid Peroxidase Gene in a Cohort of 55 Portuguese Patients With Congenital Hypothyroidism

European Journal of Endocrinology
MedicineEndocrinologyMetabolismDiabetes
2005English

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A Homozygous Nonsense Thyroid Peroxidase Mutation (R540X) Consistently Causes Congenital Hypothyroidism in Two Siblings Born to a Consanguineous Family

JCRPE Journal of Clinical Research in Pediatric Endocrinology
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Anti-Thyroid Peroxidase and Anti-Thyroglobulin Antibodies in Patients With Hypothyroidism

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2016English

Congenital Central Hypothyroidism Due to a Homozygous Mutation in theTSHβSubunit Gene

Case Reports in Pediatrics
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Congenital Primary Hypothyroidism With the Homozygous Nonsense Mutation P.K1374* in the Thyroglobulin Gene and a Normal-Sized Thyroid Gland on Levothyroxine Replacement

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Two Siblings With Congenital Central Hypothyroidism Caused by a Novel Mutation in the IGSF1 Gene

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Normative Data for Thyroid Stimulating Hormone for Screening of Congenital Hypothyroidism: Correspondence

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Screening for Congenital Hypothyroidism

Pediatric Research
Child HealthPediatricsPerinatology
1975English

Screening for Congenital Hypothyroidism.

Archives of Disease in Childhood
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1980English

Screening for Congenital Hypothyroidism.

BMJ
1980English

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