Zobrazeno 1 - 10
of 36
pro vyhledávání: '"Mirta, Miras"'
Autor:
Julian Martinez-Mayer, Michelle L. Brinkmeier, Sean P. O’Connell, Arnold Ukagwu, Marcelo A. Marti, Mirta Miras, Maria V. Forclaz, Maria G. Benzrihen, Leonard Y. M. Cheung, Sally A. Camper, Buffy S. Ellsworth, Lori T. Raetzman, Maria I. Pérez-Millán, Shannon W. Davis
Publikováno v:
Genome Medicine, Vol 16, Iss 1, Pp 1-24 (2024)
Abstract Background Congenital hypopituitarism (CH) and its associated syndromes, septo-optic dysplasia (SOD) and holoprosencephaly (HPE), are midline defects that cause significant morbidity for affected people. Variants in 67 genes are associated w
Externí odkaz:
https://doaj.org/article/0bbc158ef495443f94e7c8846687f0bb
Autor:
Eduardo R. Cuvertino, Liliana Gelman, Mirta Miras-Miartus, Alejandra Geres, Maria L. Cuvertino
Publikováno v:
Journal of the Mexican Federation of Radiology and Imaging, Vol 3, Iss 2 (2024)
Introduction: Ultrasound (US) elastography for thyroid microcarcinomas has variable diagnostic performance. This study aimed to (1) define the elastographic features of thyroid nodules using two-dimensional shear-wave elastography (2D-SWE) and (2) ev
Externí odkaz:
https://doaj.org/article/d4eaa4b7fc7f445884fe57e362aede6b
Autor:
Guillermo Alonso, Carolina Arias Cau, Alicia Belgorosky, G Benzrihen, Ignacio Bergada, Debora Braslavsky, Sally Camper, Marta Ciaccio, S D'Amato, Isabel D Palma, Veronica Figueroa, Veronica Forclaz, Ana Keselman, Jacob Kitzman, Susana Mallea Gil, Hospital Militar Central, Buenos Aires Argentina, Roxana Marino, Marcelo Marti, Mirta Miras, Natalia Perez Garrido, Pablo Ramirez, Sebastian Vishnopolska, Maria Andrea Camilletti, Julian Martinez Mayer, Augusto Chaves Murriello, Gonzalo Chirino Felker, Maria Perez-Millan
Publikováno v:
Journal of the Endocrine Society. 6:A462-A463
Hypopituitarism with deficiency of one or more pituitary hormones (combined pituitary hormone deficiency or CPHD) can vary in severity and age at presentation. Additionally, the hormone abnormalities may evolve with time necessitating frequent evalua
Autor:
Carlos P. Modenutti, Ana María Masini-Repiso, Victoria Peyret, Gabriela Coux, Liliana Muñoz, Juan Pablo Nicola, Mariano Martín, Mirta Miras, Mauco Lucas Gil Rosas, Nora B. Calcaterra, Nancy Carrasco, Romina Celeste Geysels, Graciela Testa, Gabriela Sobrero, Carlos Eduardo Bernal Barquero, Marcelo A. Martí, Malvina Signorino
Publikováno v:
J Clin Endocrinol Metab
Context Iodide transport defect (ITD) (Online Mendelian Inheritance in Man No. 274400) is an uncommon cause of dyshormonogenic congenital hypothyroidism due to loss-of-function variants in the SLC5A5 gene, which encodes the sodium/iodide symporter (N
Autor:
Luciani R. Carvalho, Mariana F A Funari, Fernanda A. Correa, Marilena Nakaguma, Lucas Santos de Santana, Ivo J.P. Arnhold, Antonio M. Lerario, Ricardo V Perez, Martha K.P. Huayllas, Berenice B. Mendonca, Mirta Miras, Anna Flavia Figueredo Benedetti, Alexander A. L. Jorge
Publikováno v:
Endocrine Connections, Vol 8, Iss 5, Pp 590-595 (2019)
Endocrine Connections
Endocrine Connections
Aim Congenital hypopituitarism has an incidence of 1:3500–10,000 births and is defined by the impaired production of pituitary hormones. Early diagnosis has an impact on management and genetic counselling. The clinical and genetic heterogeneity of
Autor:
Juan Pablo Nicola, Jacob O. Kitzman, Alicia Belgorosky, Ana Keselman, Maria Isabel Di Palma, María Florencia Mercogliano, Natalia Perez Garrido, Maria Ines Perez-Millan, Ignacio Bergadá, Amanda H. Mortensen, Maria Andrea Camilletti, Debora Braslavsky, Roxana Marino, Sebastián Alexis Vishnopolska, Mirta Miras, Marta Ciaccio, Pablo Ramírez, Sally A. Camper, Marcelo A. Martí
Publikováno v:
Journal of the Endocrine Society
Congenital hypopituitarism (CH), septo-optic dysplasia (SOD), and holoprosencephaly (HPE) constitute an important group of structural birth defects that cause significant morbidity and life-long consequences for quality of life and care. The genetic
Autor:
Jacob O. Kitzman, Sally A. Camper, Ignacio Bergadá, María Inés Pérez Millán, Pablo Ramirez, Juan Pablo Nicola, Mirta Miras, Marta Ciaccio, Maria Isabel Di Palma, Ana Keselman, Amanda H. Mortensen, Sebastián Alexis Vishnopolska, Marcelo A. Martí, Alicia Belgorosky, Perez Garrido Natalia, Debora Braslavsky, Roxana Marino
Publikováno v:
Journal of the Endocrine Society
Combined pituitary hormone deficiency (CPHD) is an important clinical problem caused by mutations in more than 30 different genes. Six genes in the Sonic Hedgehog (SHH) signalling pathway are reported to cause CPHD. SHH signaling is essential to indu
Síndrome de interrupción del tallo pituitario. Relaciones clínicas, bioquímicas y neurorradiológicas
Autor:
Silvia Martin, Daniela Dichko, Cecilia Aguirre, Sebastián Bulacio, Mirta Miras, Gabriela Sobrero, Liliana Silvano, Liliana Franchioni de Muñoz, Laura Castro
Publikováno v:
Revista Argentina de Endocrinología y Metabolismo. 54:151-159
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 sindr
Autor:
Viviana Balbi, Analía Morín, Oscar Brunetto, Marta Ciaccio, Alicia Belgorosky, Mirta Miras, Hamilton Cassinelli, Ana Keselman, Guillermo Alonso, Comité Nacional de Endocrinología Pediátrica, Cristina Bazán de Casella, Ignacio Bergadá
Publikováno v:
Archivos argentinos de pediatria. 117(4)
Autor:
Berenice B. Mendonca, Alexander A. L. Jorge, Luciani R. Carvalho, Ivo J.P. Arnhold, Mariana F A Funari, Martha K.P. Huayllas, Lerario M. Antonio, Anna Flavia Figueredo Benedetti, Fernanda A. Correa, Lucas Santos de Santana, Mirta Miras, Ricardo V Perez, Marilena Nakaguma
Publikováno v:
Journal of the Endocrine Society
Background: Congenital GH deficiency (GHD) can be isolated (IGHD) or combined with other pituitary hormone deficiencies (CPHD). The identification of mutations has clinical implications for the management of patients and genetic counseling. Objective