Documentos de Arianne Llamos Paneque | REDI

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Mostrando 7 resultados de: 7

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Origen: "scopus"

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Publisher

American Journal of Medical Genetics, Part A(1)

Frontiers in Psychiatry(1)

Human Genome Variation(1)

International Journal of Pediatric Otorhinolaryngology(1)

Molecular Genetics and Genomic Medicine(1)

Área temáticas

Enfermedades(5)

Anatomía humana, citología, histología(2)

Problemas sociales y servicios a grupos(2)

Factores que afectan al comportamiento social(1)

Área de conocimiento

Año de Publicación

Origen

Palabras Claves

Branchial arch anomalies(1)

Branchiootorenal syndrome(1)

Cytogenetics(1)

A toddler with phylloid-type pigmentary mosaicism and ambiguous genitalia resulting from trisomy 14 induced by a der(Y)t(Y;14)

Abstract: A 1-year-old baby with phylloid-type pigmentary mosaicism, hypotonia, ambiguous genitalia, and a pos

Palabras claves:

Arianne Llamos Paneque, Hosomichi K., Juan Carlos Pozo-Palacios, Liehr T., Samantha Sáenz Hinojosa, Tajima A., Vanessa Romero

Cytogenetic variants in patients with Turner syndrome diagnosed in a third level care hospital in Ecuador

Abstract: Introduction: Turner Syndrome (TS) is a sexual chromosomal alteration caused by the partial or compl

Palabras claves:

Genotype, Kariotype, Phenotype, Turner syndrome

Arianne Llamos Paneque, Garzón-Castro M., Lamar-Segura E., Ñacato K.L., Recalde-Báez M.A., Román-Naranjo M.E., Vásquez G.

Experiences of the Molecular Diagnosis of Fragile X Syndrome in Ecuador

Abstract: Fragile X syndrome (FXS) is the most common cause of hebkp_reditary intellectual disability and the

Palabras claves:

dynamic mutation diseases, FMR1, fragile X syndrome, Intellectual disabilities, repetitions

Arianne Llamos Paneque, Juan Carlos Pozo-Palacios, López-Cáceres A., Onofre E., Rivas C., Villareal J.

Ethical premises in the prenatal diagnosis of congenital defects in Cuba

Abstract: The objective of this paper was to submit a proposal of ethical premises for prenatal diagnosis of c

Palabras claves:

Ethical aspects, Genetic counselling, Inborn defects, Prenatal diagnosis

Arianne Llamos Paneque, Marcheco-Teruel B., Rojas Betancourt I.A.

Multi-institutional experience of genetic diagnosis in Ecuador: National registry of chromosome alterations and polymorphisms

Abstract: Background: Detection of chromosomal abnormalities is crucial in various medical areas; to diagnose

Palabras claves:

chromosome alterations, chromosome polymorphisms, Cytogenetics, Genetic testing

Ana Karina Zambrano, Andrés López-Cortés, Andy Pérez-Villa, Arianne Llamos Paneque, Burgos R.I., Cesar Paz-y-Miño, Cruz F., Echeverría-Garcés G., Garzón-Castro M., Guapi N V.H., Isaac Armendáriz-Castillo, Jenny Álvarez Vidal, Jennyfer M. García-Cárdenas, Jiménez Torres I., Juan Carlos Ruiz-Cabezas, Lamar-Segura E., Licuy P., Martha Montalván, Meneses Álvarez S., Moreta G., Naranjo M.E., Ocampo L., Ochoa Pérez C., P. Guevara-Ramírez, Paola E. Leone, Paredes R., Porras-Borja F., Ramón Miguel Vargas-Vera, Recalde-Báez M.A., Ruiz M., Santiago Xavier Guerrero, Sinche M., Tambaco Jijón N., Verónica Yumiceba

Novel EYA1 variants causing Branchio-oto-renal syndrome

Abstract: Introduction Branchio-oto-renal (BOR) syndrome is an autosomal dominant genetic disorder characteriz

Palabras claves:

Branchial arch anomalies, Branchiootorenal syndrome, EYA1, hearing loss, Whole exome sequencing

Arianne Llamos Paneque, Arslan S., Bademci G., Behnam M., Carrera-Gonzalez A., Cengiz F.B., Demir Ulusal S., Duman D., Elcioglu N., Escarfuller S., Foster J., Greenland C.M., Guo S., Gurkan H., Klingbeil K.D., Maroofian R., Menendez I., Montufar-Armendariz S., Paredes R., Tekin M.

Rubinstein–Taybi syndrome in diverse populations

Abstract: Rubinstein–Taybi syndrome (RSTS) is an autosomal dominant disorder, caused by loss-of-function varia

Palabras claves:

ÁFRICA, Asia, facial analysis technology, Latin America, Middle East, Rubinstein–Taybi syndrome

Abdul-Rahman O.A., Addissie Y.A., Arianne Llamos Paneque, Ashaat E.A., Badilla-Porras R., Badoe E., Batista L.C., Brunetti-Pierri N., Cappuccio G., Diaz-Kuan A., Dissanayake V.H.W., Dowsett L., Ekure E.N., El Ruby M.O., Fleischer N., Fung J.L.F., Gupta N., Hon-Yin Chung B., Huckstadt V., Hussen D.F., Ifeorah I.K., Jones K.L., Kitchin C.S., Kruszka P., Lee S., Lo I.F.M., Lotz-Esquivel S., Luk H.M., Malonga B., Moresco A., Moretti-Ferreira D., Muenke M., Mutesa L., Obregon M.G., Owosela B., Penon-Portmann M., Prijoles E.J., Saborio-Rocafort M., Sirisena N.D., Stevenson R.E., Tekendo-Ngongang C., Thong M.K., Uwineza A.