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Mirta Miras
National University of Cordoba
38Publications
8H-index
151Citations
Publications 38
Newest
Published on Dec 1, 2017in Molecular and Cellular Endocrinology3.69
Sofía Siffo2
Estimated H-index: 2
(UBA: University of Buenos Aires),
Ezequiela Adrover7
Estimated H-index: 7
(UBA: University of Buenos Aires)
+ 11 AuthorsPatricia Papendieck3
Estimated H-index: 3
(CONICET: National Scientific and Technical Research Council)
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...
Laura Castro1
Estimated H-index: 1
,
Silvia Martin3
Estimated H-index: 3
+ 6 AuthorsMirta Miras8
Estimated H-index: 8
Pituitary stalk interruption syndrome (PSIS) is characterised by the combination of an interrupted or thin pituitary stalk, absent or ectopic posterior pituitary, and anterior pituitary hypoplasia. It is manifested as isolated (IGHD) or combined pituitary hormone deficiencies (CPHD) of variable degrees and timing of onset, with a wide spectrum of clinical phenotypes. PSIS may be an isolated morphological abnormality or be part of a syndrome. A retrospective evaluation is presented of clinical si...
Published on Jan 1, 2016in Molecular and Cellular Endocrinology3.69
Fiorella S. Belforte1
Estimated H-index: 1
(CONICET: National Scientific and Technical Research Council),
Cintia E. Citterio3
Estimated H-index: 3
(CONICET: National Scientific and Technical Research Council)
+ 5 AuthorsCarina M. Rivolta2
Estimated H-index: 2
(CONICET: National Scientific and Technical Research Council)
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...
Published on Jun 1, 2015in Pediatric endocrinology reviews0.82
Loreto Muñoz2
Estimated H-index: 2
,
Mariana Ochetti2
Estimated H-index: 2
+ 5 AuthorsMirta Miras8
Estimated H-index: 8
Published on Feb 1, 2015in The Journal of Clinical Endocrinology and Metabolism5.61
Roxana Marino10
Estimated H-index: 10
(M&Co.),
Natalia Perez Garrido3
Estimated H-index: 3
(M&Co.)
+ 12 AuthorsGladys Pena1
Estimated H-index: 1
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...
Francisco Álvarez-Nava8
Estimated H-index: 8
(University of Zulia),
Roberto Lanes24
Estimated H-index: 24
+ 19 AuthorsTatiana Pardo2
Estimated H-index: 2
(University of Zulia)
Background It is possible that genes on the X chromosome are expressed differently depending of its parental origin. The objective of this study was to determine the influence of the parental origin of the X-chromosome on phenotypic variability, response to rhGH and on the biochemical profile of TS patients.
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