Search Results - "Avendaño, Andrea"

Main genetic entities associated with supernumerary teeth by Cammarata-Scalisi, Francisco, Avendaño, Andrea, Callea, Michele

“…Supernumerary teeth represent a common human dental anomaly, defined as presence of extra teeth-more than the normal number foreseen in primary or permanent…”
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Evaluating the perceived brightness of chromatic stimuli with backgrounds of varying luminance by Avendano Martinez, Andrea, Zuena, Jake, Pytlarz, Jaclyn

“…Abstract Reproducing near‐gamut colors on an emissive display often causes them to appear brighter than an achromatic color of the same luminance. This…”
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Novel clinical features associated with Clouston syndrome by Cammarata-Scalisi, Francisco, Rinelli, Martina, Pisaneschi, Elisa, Diociaiuti, Andrea, Willoughby, Colin E., Avendaño, Andrea, Digilio, Maria C., Novelli, Antonio, Callea, Michele

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Beckwith-Wiedemann syndrome: clinical and etiopathogenic aspects of a model genomic imprinting entity by Cammarata-Scalisi, Francisco, Avendaño, Andrea, Stock, Frances, Callea, Michele, Sparago, Angela, Riccio, Andrea

“…The Beckwith-Wiedemann syndrome is the most common genetic entity in overgrowth, with an approximate incidence of 1 in 10 00013 700births. Its broad clinical…”
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A Venezuelan Case of Schmid-Type Metaphyseal Chondrodysplasia with a Novel Mutation in COL10A1 by Cammarata-Scalisi, Francisco, Matysiak, Uta, Velten, Tanja, Callea, Michele, Araque, Dianora, Willoughby, Colin E., Galeotti, Angela, Avendaño, Andrea

“…Schmid-type metaphyseal chondrodysplasia (MIM 156500) is an uncommon autosomal dominant skeletal dysplasia caused by heterozygous mutations in the COL10A1 gene…”
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Residencia: El Museo de la Nada by Avendaño, Andrea

“…Galería…”
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5α‐Reductase type 2 deficiency in families from an isolated Andean population in Venezuela by Avendaño, Andrea, González‐Coira, Mercedes, Paradisi, Irene, Rojas, Ascanio, Da Silva, Gloria, Gómez‐Pérez, Roald, Ceballos, Jesús Osuna

“…5α‐Reductase type 2 deficiency causes a 46,XY disorder of sex development (DSD) characterized by ambiguous external genitalia, rudimentary prostate, and normal…”
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Clinical, biochemical and molecular findings of propionic acidemia by Cammarata-Scalisi, Francisco, Yen-Hui, Chiu, Tze-Tze, Liu, Da Silva, Gloria, Araque, Dianora, Callea, Michele, Avendaño, Andrea

“…Propionic acidemia is an infrequent disorder with an autosomal recessive inheritance pattern caused by the deficiency of the mitochondrial enzyme propionyl-CoA…”
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5-α-Reductase type 2 deficiency: is there a genotype-phenotype correlation? A review by Avendaño, Andrea, Paradisi, Irene, Cammarata-Scalisi, Francisco, Callea, Michele

“…5-α-Reductase type 2 enzyme catalyzes the conversion of testosterone into dihydrotestosterone, a potent androgen responsible for male sexual development during…”
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Next generation sequencing panel target genes: possible diagnostic tool for ectodermal dysplasia related diseases by Callea, Michele, Bellacchio, Emanuele, Cammarata Scalisi, Francisco, El Feghaly, Jinia, El-Ghandour, Rabab K, Avendaño, Andrea, Yavuz, Yasemine, Diociaiuti, Andrea, Digilio, Maria C, DI Stazio, Mariateresa, Novelli, Antonio, Oranges, Teresa, Filippeschi, Cesare, Pisaneschi, Elisa, Jilani, Houweyda, Gigola, Francesca, Willoughby, Colin E, Morabito, Antonino

“…Ectodermal dysplasias (EDs) are a large and complex group of disorders affecting the ectoderm-derived organs; the clinical and genetic heterogeneity of these…”
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Clinical and genetic findings of two cases with Apert syndrome by Cammarata-Scalisi, Francisco, Yilmaz, Elanur, Callea, Michele, Avendaño, Andrea, Mıhçı, Ercan, Alper, Ozgul M

“…Craniosynostosis is described as the premature fusion of cranial sutures that belongs to a group of alterations which produce an abnormal phenotype. Two…”
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Wolf-Hirschhorn syndrome. Description of five cases characterized by means of single nucleotide polymorphism microarrays by Cammarata-Scalisi, Francisco, Blanco Lago, Raquel, Barruz Galián, Pilar, Lapunzina Badía, Pablo, Araque, Dianora, Da Silva, Gloria, Lacruz-Rengel, María A, Avendaño, Andrea, Nevado Blanco, Julián

“…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…”
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Desenlaces materno-fetales de los embarazos gemelares atendidos en el Hospital Universitario de Santander, Bucaramanga (Colombia), 2007-2011. Estudio de cohorte by Hernán Becerra-Mojica, Carlos, Alfonso Díaz-Martínez, Luis, Adolfo Contreras-García, Gustavo, Andrea Beltrán-Avendaño, Mónica, Augusto Salazar-Martínez, Hernando, Ángela Gutiérrez-Sánchez, Luz, Carlos Otero-Pinto, Juan, Constanza Montezuma-Niño, Laura

“…Objetivo: los embarazos gemelares implican mayor riesgo de complicaciones materno-fetales que los embarazos únicos, particularmente en los monocoriales. El…”
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Clinical and molecular study in a family with cleidocranial dysplasia by Callea, Michele, Fattori, Fabiana, Bertini, Enrico S, Yavuz, Izzet, Bellacchio, Emanuele, Avendaño, Andrea, Araque, Dianora, Lacruz-Rengel, María A, Da Silva, Gloria, Cammarata-Scalisi, Francisco

“…Cleidocranial dysplasia is an uncommon bone dysplasia with an autosomal dominant inheritance pattern characterized by short stature, large fontanels, midface…”
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Isotretinoin embryopathy: An entity that can be avoided by Cammarata-Scalisi, Francisco, Nieves, Dairelis, Avendaño, Andrea, Lacruz-Rengel, María A, Alviárez, Karelys, Dávila, Francys, Yavuz, Izzet, Callea, Michele

“…Isotretinoin is the most effective drug in the treatment of severe recalcitrant nodulocystic acne. However, treatment with this drug is associated with adverse…”
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Mosaic trisomy 18. Series of cases by Cammarata-Scalisi, Francisco, Lacruz-Rengel, María A, Araque, Dianora, Da Silva, Gloria, Avendaño, Andrea, Callea, Michele, Stock, Frances, Guerrero, Yudith, Aguilar, Eliomar, Lacruz, María J, Sulbaran, Jesús

“…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…”
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Isoinmunización Rh en bajas respondedoras: Reporte de caso by Martinez-Carvajal, Lady Gabriela, Castañeda-Saavedra, Stefanía de los Ángeles, Beltrán-Avendaño, Mónica Andrea

“…Introducción. La isoinmunización Rh consiste en la producción de anticuerpos maternos en una gestante Rh negativa contra los antígenos de los eritrocitos Rh…”
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Corea Gravídica: reporte de caso y revisión de la literatura by Rengifo-Quintero, Laura Juliana, Beltrán-Avendaño, Mónica Andrea

“…  Objetivos: presentar un caso de corea gravídica y hacer una revisión sistemática de la literatura publicada sobre el tratamiento y pronóstico materno-fetal…”
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Residencia: El Museo de la Nada by Andrea Avendaño

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El Mapuzungun es naturaleza»: Estrategias didácticas para lenguas originarias desde las ciencias y el arte by Avendaño Caneo, Andrea

“…La escuela primaria puede ser el lugar donde muchos niños descubren el mundo, lamentablemente en ella se sugiere, por parte de los currículos escolares, que…”
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