Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Noemí, Buzzalino"'
Autor:
Adriana Oneto, Liliana Alba, Mirta Stivel, Melisa Taboas, Susana Belli, Liliana Dain, Noemí Buzzalino, Lucía D. Espeche, Carlos David Bruque, Belén Benavides-Mori, Marisol Delea, Cecilia Fernández, Titania Pasqualini, Jorge E. Kolomenski
Publikováno v:
Clinical Endocrinology. 93:19-27
Context 21-hydroxylase deficiency is the most common cause of Congenital Adrenal Hyperplasia. It presents as severe or classical forms-salt wasting and simple virilizing-and a mild or nonclassical (NC). Several studies have reported the frequency of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f16df2aa83ea20702a3a093dcb0ee5ad
https://doi.org/10.1111/cen.14190
https://doi.org/10.1111/cen.14190
Autor:
Melisa Taboas, Luciana Gómez Acuña, María Florencia Scaia, Carlos D Bruque, Noemí Buzzalino, Mirta Stivel, Nora R Ceballos, Liliana Dain
Publikováno v:
PLoS ONE, Vol 9, Iss 3, p e92181 (2014)
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is the most frequent inborn error of metabolism and accounts for 90-95% of CAH cases. In the present work, we analyzed the functional consequence of four novel previously reported
Externí odkaz:
https://doaj.org/article/fa8262b8a374471c84d07d8b1e0e1efd
Autor:
Carolina Minutolo, Alejandro D Nadra, Cecilia Fernández, Melisa Taboas, Noemí Buzzalino, Bárbara Casali, Susana Belli, Eduardo H Charreau, Liliana Alba, Liliana Dain
Publikováno v:
PLoS ONE, Vol 6, Iss 1, p e15899 (2011)
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is the most frequent inborn error of metabolism, and accounts for 90-95% of CAH cases. The affected enzyme, P450C21, is encoded by the CYP21A2 gene, located together with a 98% nuc
Externí odkaz:
https://doaj.org/article/0b3ff7a736854c4088db0fd43b6b4937
Autor:
Cecilia Fernández, Marisol Delea, Liliana Dain, Carlos David Bruque, Leandro Simonetti, Lucía D. Espeche, Alejandro D. Nadra, Jorge E. Kolomenski, Belén Benavides-Mori, Noemí Buzzalino
Publikováno v:
Human Mutation. 39:5-22
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders of adrenal steroidogenesis. Disorders in steroid 21-hydroxylation account for over 95% of patients with CAH. Clinically, the 21-hydroxylase deficiency has been classifie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1791169726c28ab0d36ddc3cd9f6b9d5
https://doi.org/10.1002/humu.23351
https://doi.org/10.1002/humu.23351
Publikováno v:
Archivos Argentinos de Pediatria. 117
The fragile X syndrome occurs due to an expansion of CGG trinucleotides, called full mutation, which is found at the Xq27.3 locus of the FMR1 gene. It is the most common cause of inherited intellectual disability. Associated with autistic spectrum di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::baed7c9a6a12ab176de64908b4e98c54
https://doi.org/10.5546/aap.2019.e257
https://doi.org/10.5546/aap.2019.e257
Autor:
Jaen Oliveri, Sandra Rozental, Viviana Cosentino, Claudina Picon, Norma Tolaba, Lilian Furforo, Celeste Martinoli, Boris Groisman, Lucía D. Espeche, Lucía S. Massara, Pablo Barbero, Viviana Gutnisky, Marisol Delea, Carlos David Bruque, Paloma Brun, Myriam Perez, Monica Rittler, María Eugenia Ponce Zaldua, Rosa Liascovich, Noemí Buzzalino, María Paz Bidondo, Silvia Ávila, Liliana Dain
Publikováno v:
Genes
Genes, Vol 9, Iss 9, p 454 (2018)
Volume 9
Issue 9
Genes, Vol 9, Iss 9, p 454 (2018)
Volume 9
Issue 9
Congenital conotruncal heart defects (CCHD) are a subset of serious congenital heart defects (CHD) of the cardiac outflow tracts or great arteries. Its frequency is estimated in 1/1000 live births, accounting for approximately 10&ndash
30% of al
30% of al
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f79b0ab755137902f740942c5c0e4f8b
http://europepmc.org/articles/PMC6162499
http://europepmc.org/articles/PMC6162499
[Fragile X syndrome and other entities associated with the FMR1 gene: Study of 28 affected families]
Autor:
Mariel, Ormazábal, Andrea, Solari, Lucía, Espeche, Tania, Castro, Noemí, Buzzalino, Liliana, Dain
Publikováno v:
Archivos argentinos de pediatria. 117(3)
The fragile X syndrome occurs due to an expansion of CGG trinucleotides, called full mutation, which is found at the Xq27.3 locus of the FMR1 gene. It is the most common cause of inherited intellectual disability. Associated with autistic spectrum di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::347f7fe6b53b18ea0f0f7750cf377c38
https://pubmed.ncbi.nlm.nih.gov/31063313
https://pubmed.ncbi.nlm.nih.gov/31063313
Autor:
Violeta A. Chiauzzi, Andrea Solari, Liliana Dain, Lucía D. Espeche, Noemí Buzzalino, Mehrnoosh Arrar, Susana Belli, Carlos David Bruque, Marisol Delea, Eduardo H. Charreau, Cecilia Fernández, Ianina C. Ferder
Publikováno v:
Genes; Volume 8; Issue 8; Pages: 194
Genes
Genes, Vol 8, Iss 8, p 194 (2017)
Genes
Genes, Vol 8, Iss 8, p 194 (2017)
The premutation state of FMR1 (Fragile X Mental Retardation 1) has been associated with primary ovarian insufficiency (POI), and is the most common known genetic cause for 46,XX patients. Nevertheless, very few studies have analyzed its frequency in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1f325b13fc4fbe6b86c3a2990971dfc
Autor:
Cecilia Fernández, Carlos David Bruque, Melisa Taboas, Juan Victoriano Orza, Alejandro D. Nadra, Marisol Delea, Liliana Alba, Liliana Dain, Andrea Solari, Veronica Luccerini, Lucía D. Espeche, Noemí Buzzalino
Publikováno v:
Scientific Reports
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency accounts for 90-95% of CAH cases. In this work we performed an extensive survey of mutations and SNPs modifying the coding sequence of the CYP21A2 gene. Using bioinformatic tools and two
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa88da5138f051dfbbe1339337674028
Publikováno v:
Archivos Argentinos de Pediatria. 111:e35-e38
La hiperplasia suprarrenal congenita no clasica puede ser asin - tomatica o presentar signos de hiperandrogenismo y requerir tratamiento. Se describen las caracteristicas clinicas en el diag - nostico, tratamiento y seguimiento hasta alcanzar la tall
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::13ccddfd208a549b835d20605b6b2a24
https://doi.org/10.5546/aap.2013.e35
https://doi.org/10.5546/aap.2013.e35