Documentos de Arianne Llamos Paneque | REDI

Regresar

Mostrando 5 resultados de: 5

Filtros aplicados

Área temáticas: "Enfermedades"

Subtipo de publicación

Publisher

American Journal of Medical Genetics, Part A(1)

Frontiers in Psychiatry(1)

Human Genome Variation(1)

International Journal of Pediatric Otorhinolaryngology(1)

Revista Chilena de Obstetricia y Ginecologia(1)

Área temáticas

Anatomía humana, citología, histología(1)

Factores que afectan al comportamiento social(1)

Fisiología humana(1)

Ginecología, obstetricia, pediatría, geriatría(1)

Área de conocimiento

Año de Publicación

Origen

Palabras Claves

Branchial arch anomalies(1)

Branchiootorenal syndrome(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.

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.