Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Dianora Araque"'
Autor:
Francisco Cammarata-Scalisi, Michele Callea, Dianora Araque, María Angelina Lacruz-Rengel, Gloria Da Silva, Rodolfo Josué Ramírez, Fabiola López
Publikováno v:
Avances en Biomedicina, Vol 4, Iss 2, Pp 48-55 (2015)
Resumen (español) El síndrome de Wolf-Hirschhorn es una entidad genética producida por una deleción parcial que abarca la región distal del brazo corto del cromosoma 4 (4p16.3). Las manifestaciones más frecuentes son anomalías craneofaciales,
Externí odkaz:
https://doaj.org/article/19d1675538dc40008a901ddf9a3edbc6
Autor:
Francisco Cammarata-Scalisi, Dianora Araque, Frances Stock, Mercedes Molina, Raúl Rodríguez, Greicy Vázquez, Graciela Cammarata-Scalisi, María Elena Cammarata-Scalisi
Publikováno v:
Acta Gastroenterológica Latinoamericana, Vol 45, Iss 2, Pp 129-132 (2015)
La trisomía X es una anomalía cromosómica sexual que pue-de presentarse en forma de mosaico. No es infrecuente y la mayoría de los casos no son diagnosticados. La prevalencia se ha establecido en una de cada mil mujeres. Se caracteriza clínicame
Externí odkaz:
https://doaj.org/article/c88d865dcef04aa6a9cc05fc222d4f0c
Publikováno v:
Boletín Médico del Hospital Infantil de México. 76
Introduccion: La trisomia 13 es una alteracion cromosomica con una incidencia de 1 en 10,000 a 20,000 nacimientos. Puede ocurrir de forma completa, parcial o en mosaicismo. Este ultimo caso ocurre cuando, en un individuo, un porcentaje de celulas son
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7df3eb5849b13f24acc530fb082d89ff
https://doi.org/10.24875/bmhim.19000003
https://doi.org/10.24875/bmhim.19000003
Autor:
Francisco, Cammarata-Scalisi, Dianora, Araque, Rosmary, Ramírez, Luis, Guaran, Gloria Da, Silva
Publikováno v:
Boletin medico del Hospital Infantil de Mexico. 76(5)
Trisomy 13 is a chromosomal alteration with an incidence of 1 in 10,000 to 20,000 births. It can occur completely, partially or in mosaicism; the latter occurs when a percentage of cells are trisomic for chromosome 13, while the rest are euploid in a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::67ead6fe331a9802d06391a0d8be9aa6
https://pubmed.ncbi.nlm.nih.gov/31536039
https://pubmed.ncbi.nlm.nih.gov/31536039
Autor:
Gloria Da Silva, Andrea Avendaño, Dianora Araque, Liu Tze-Tze, Francisco Cammarata-Scalisi, Michele Callea, Chiu Yen-Hui
Publikováno v:
Archivos Argentinos de Pediatria. 117
Propionic acidemia is an infrequent disorder with an autosomal recessive inheritance pattern caused by the deficiency of the mitochondrial enzyme propionyl-CoA carboxylase that converts propionyl-CoA to D-methylmalonyl-CoA. We present the case of a m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b0424ba22aa3155995f1cb76b577ec5d
https://doi.org/10.5546/aap.2019.e288
https://doi.org/10.5546/aap.2019.e288
Autor:
Uta Matysiak, Angela Galeotti, Colin E. Willoughby, Dianora Araque, Tanja Velten, Michele Callea, Francisco Cammarata-Scalisi, Andrea Avendaño
Schmid-type metaphyseal chondrodysplasia (MIM 156500) is an uncommon autosomal dominant skeletal dysplasia caused by heterozygous mutations in the COL10A1 gene (MIM 120110) encoding the α1(X) chains of type X collagen. We report an 8-year-old girl w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0322735dda0b90d1b5c7d92a10ab8c8
https://europepmc.org/articles/PMC6528095/
https://europepmc.org/articles/PMC6528095/
Autor:
Francisco, Cammarata-Scalisi, Chiu, Yen-Hui, Liu, Tze-Tze, Gloria, Da Silva, Dianora, Araque, Michele, Callea, Andrea, Avendaño
Publikováno v:
Archivos argentinos de pediatria. 117(3)
Propionic acidemia is an infrequent disorder with an autosomal recessive inheritance pattern caused by the deficiency of the mitochondrial enzyme propionyl-CoA carboxylase that converts propionyl-CoA to D-methylmalonyl-CoA. We present the case of a m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9314ff9e4638a2126aa02681b1483b51
https://pubmed.ncbi.nlm.nih.gov/31063319
https://pubmed.ncbi.nlm.nih.gov/31063319
Autor:
Francisco, Cammarata-Scalisi, Raquel, Blanco Lago, Pilar, Barruz Galián, Pablo, Lapunzina Badía, Dianora, Araque, Gloria, Da Silva, María A, Lacruz-Rengel, Andrea, Avendaño, Julián, Nevado Blanco
Publikováno v:
Archivos argentinos de pediatria. 117(4)
Wolf-Hirschhorn syndrome is a polymalformative entity due to the microdeletion in the distal region of the short arm of chromosome 4 (4p16.3), which produces a series of clinical manifestations that can vary depending on the type and size of the gene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f24853c9b2a55aa2218d5bb23cca756d
https://pubmed.ncbi.nlm.nih.gov/31339285
https://pubmed.ncbi.nlm.nih.gov/31339285
Autor:
Emanuele Bellacchio, Francisco Cammarata-Scalisi, Michele Callea, Fabiana Fattori, Gloria Da Silva, Dianora Araque, Andrea Avendaño, Izzet Yavuz, Enrico Bertini, María Angelina Lacruz-Rengel
Publikováno v:
Archivos Argentinos de Pediatria. 115
Cleidocranial dysplasia is an uncommon bone dysplasia with an autosomal dominant inheritance pattern characterized by short stature, large fontanels, midface hypoplasia, absence or hypoplasia of clavicles and orodental alterations. This is Estudio cl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ed65fa456147fe3e369e0d9604a5c0d7
https://doi.org/10.5546/aap.2017.e440
https://doi.org/10.5546/aap.2017.e440
Autor:
Michele Callea, Jesús Sulbaran, Francisco Cammarata-Scalisi, Frances Stock, María J Lacruz, María Angelina Lacruz-Rengel, Dianora Araque, Andrea Avendaño, Yudith Guerrero, Gloria Da Silva, Eliomar Aguilar
Publikováno v:
Archivos Argentinos de Pediatria. 115
Trisomy 18 syndrome (T18) is a clinical and genetic disorder, which has a full extra chromosome 18 in each cell, variant that is called free trisomy. In addition, it can occur in partial and mosaic form. It is characterized by intrauterine growth res
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7f302a1188bdf6d27df1825b15ff233d
https://doi.org/10.5546/aap.2017.e183
https://doi.org/10.5546/aap.2017.e183