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Mirta Miras
Boston Children's Hospital
EndocrinologyMutationDiabetes mellitusMedicineBiology
35Publications
8H-index
156Citations
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Publications 37
Newest
#1Sebastian Vishnopolska (Facultad de Ciencias Exactas y Naturales)H-Index: 2
#2Debora BraslavskyH-Index: 9
Last. Alicia BelgoroskyH-Index: 23
view all 17 authors...
Source
#1Mirta MirasH-Index: 8
#2L. SilvanoH-Index: 5
Last. Liliana FranchioniH-Index: 1
view all 9 authors...
#2Alicia BelgoroskyH-Index: 23
Last. Mirta MirasH-Index: 8
view all 8 authors...
#1Mirta MirasH-Index: 8
#2L. SilvanoH-Index: 5
Last. Liliana FranchioniH-Index: 1
view all 9 authors...
Source
#1Sofía Siffo (UBA: University of Buenos Aires)H-Index: 2
#2Ezequiela Adrover (UBA: University of Buenos Aires)H-Index: 8
Last. Héctor M. Targovnik (UBA: University of Buenos Aires)H-Index: 25
view all 14 authors...
Abstract Thyroid dyshormonogenesis due to thyroglobulin (TG) gene mutations have an estimated incidence of approximately 1 in 100,000 newborns. The clinical spectrum ranges from euthyroid to mild or severe hypothyroidism. Up to now, one hundred seventeen deleterious mutations in the TG gene have been identified and characterized. The purpose of the present study was to identify and characterize new mutations in the TG gene. We report eight patients from seven unrelated families with goiter, hypo...
2 CitationsSource
Resumen El sindrome de interrupcion del tallo pituitario (PSIS) se caracteriza por la demostracion neurorradiologica de un tallo pituitario ausente, interrumpido o hipoplasico, adenohipofisis aplasica/hipoplasica o neurohipofisis ectopica. Este sindrome se ha relacionado con formas severas de hipopituitarismo congenito (HPC), asociado a multiples deficiencias de hormonas pituitarias (MPHD). Evaluamos a pacientes con HPC y PSIS, analizando los signos y los sintomas neonatales al diagnostico, rela...
Source
#1Juan Pablo NicolaH-Index: 14
#2Mariano MartínH-Index: 2
Last. Mirta MirasH-Index: 8
view all 8 authors...
#1Fiorella Sabrina Belforte (CONICET: National Scientific and Technical Research Council)H-Index: 5
#2Cintia E. Citterio (CONICET: National Scientific and Technical Research Council)H-Index: 6
Last. Carina M. Rivolta (CONICET: National Scientific and Technical Research Council)H-Index: 17
view all 8 authors...
Abstract Iodide Organification defects (IOD) represent 10% of cases of congenital hypothyroidism (CH) being the main genes affected that of TPO (thyroid peroxidase) and DUOX2 (dual oxidasa 2). From a patient with clinical and biochemical criteria suggestive with CH associated with IOD, TPO and DUOX2 genes were analyzed by means of PCR-Single Strand Conformation Polymorphism analysis and sequencing. A novel heterozygous compound to the mutations c.2335-1G>C (paternal mutation, intron 17) and c.32...
1 CitationsSource
#1Loreto MuñozH-Index: 2
#2Mariana OchettiH-Index: 2
Last. Mirta MirasH-Index: 8
view all 8 authors...
2 Citations
#1Roxana Marino (M&Co.)H-Index: 10
#2Natalia Perez Garrido (M&Co.)H-Index: 3
Last. Nora Saraco (M&Co.)H-Index: 12
view all 15 authors...
Context: Aromatase is the key enzyme for estrogen biosynthesis and is encoded by the CYP19A1 gene. Since 1991, several molecular CYP19A1 gene alterations associated with aromatase deficiency have been described in both sexes. Objective: The objective of the study was to detect CYP19A1 mutations in five aromatase-deficient 46,XX patients, to describe the clinical follow-up from birth to puberty and to perform haplotype analysis associated with the high-frequency c.628G>A splice mutation in Argent...
16 CitationsSource
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