Zobrazeno 1 - 10
of 70
pro vyhledávání: '"Ariadna González-del Angel"'
Autor:
Miguel Angel Alcántara-Ortigoza, Ana Luisa Rodríguez-Lozano, Bernardette Estandía-Ortega, Ariadna González-del Angel, Luisa Díaz-García, Francisco Eduardo Rivas-Larrauri, Ruth Guadalupe Nájera-Velázquez
Publikováno v:
Children, Vol 11, Iss 6, p 712 (2024)
A ~3-kb deletion-type DNA copy number variation (CNV, esv3587290) located at intron 7 of the VANGL1 gene (1p13.1, MIM*610132) has been proposed as a genetic factor in lupus nephritis (LN) development in adult systemic lupus erythematosus (SLE) patien
Externí odkaz:
https://doaj.org/article/e8acc32dd79e45bb885902435629d9ac
Autor:
Marcela Vela-Amieva, Miguel Angel Alcántara-Ortigoza, Ariadna González-del Angel, Isabel Ibarra-González, Liliana Fernández-Hernández, Sara Guillén-López, Lizbeth López-Mejía, Cynthia Fernández-Lainez
Publikováno v:
Children, Vol 10, Iss 12, p 1865 (2023)
Hyperphenylalaninemia (HPA), which includes phenylketonuria (PKU), is a genetic autosomal recessive disorder arising from a deficiency in the enzyme named phenylalanine hydroxylase (PAH). Affected patients can experience severe and irreversible neuro
Externí odkaz:
https://doaj.org/article/c14e580e5b574c1696197076f2938c9c
Autor:
Ariadna González-del Angel, Adriana Ruiz-Herrera, Nancy Leticia Hernández-Martínez, Carlos G. Todd-Quiñones, Carola Durán-McKinster, Patricia Herrera-Mora, Miguel Angel Alcántara-Ortigoza
Publikováno v:
Children, Vol 10, Iss 10, p 1614 (2023)
Tuberous sclerosis complex (TSC) is a genetic disorder, frequently characterized by early dermatological manifestations. The recognition and adequate description of these dermatological manifestations are of utmost importance for early diagnosis, all
Externí odkaz:
https://doaj.org/article/cd654e00c0c948998095f2598b35b03a
Autor:
Ariadna González-del Angel, Miguel Angel Alcántara-Ortigoza, Sandra Ramos, Carolina Algara-Ramírez, Marco Antonio Hernández-Hernández, Lorenza Saenger-Rivas
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 19, p 14643 (2023)
Trisomy X is the most frequent sex chromosome anomaly in women, but it is often underdiagnosed postnatally because most patients do not show any clinical manifestation. It is estimated that only 10% of patients with trisomy X are diagnosed by clinica
Externí odkaz:
https://doaj.org/article/344f05b15d214601bfb570ce0fe30f56
Autor:
Marcela Vela-Amieva, Miguel Angel Alcántara-Ortigoza, Ariadna González-del Angel, Leticia Belmont-Martínez, Carlos López-Candiani, Isabel Ibarra-González
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-11 (2021)
Abstract Background Glucose-6-phosphate dehydrogenase deficiency (G6PDd) newborn screening is still a matter of debate due to its highly heterogeneous birth prevalence and clinical expression, as well as, the lack of enough knowledge on its natural h
Externí odkaz:
https://doaj.org/article/0b26e41371a5413bb4a6792991e4ec1f
Autor:
Miriam E. Reyna-Fabián, Miguel A. Alcántara-Ortigoza, Nancy L. Hernández-Martínez, Jaime Berumen, Raquel Jiménez-García, Gilberto Gómez-Garza, Ariadna González-del Angel
Publikováno v:
Nefrología (English Edition), Vol 40, Iss 1, Pp 91-98 (2020)
About 80% of patients with tuberous sclerosis complex (TSC) present renal involvement, usually as angiomyolipomas followed by cystic disease. An early diagnosis of polycystic kidney disease (PKD) in such patients is frequently related to the TSC2/PKD
Externí odkaz:
https://doaj.org/article/ce6d17371f4643ac9edb8920424cea9e
Autor:
Bernardette Estandia-Ortega, Miriam Erandi Reyna-Fabián, José Antonio Velázquez-Aragón, Ariadna González-del Angel, Liliana Fernández-Hernández, Miguel Angel Alcántara-Ortigoza
Publikováno v:
Life, Vol 12, Iss 11, p 1723 (2022)
The clinical diagnosis of oculo-auriculo-vertebral spectrum (OAVS) is established when microtia is present in association with hemifacial hypoplasia (HH) and/or ocular, vertebral, and/or renal malformations. Genetic and non-genetic factors have been
Externí odkaz:
https://doaj.org/article/5f615def45d74038b43e1d0c4d0d245b
Autor:
Liliana Fernández-Hernández, María José Navarro-Cobos, Miguel Angel Alcántara-Ortigoza, Sandra Elena Ramos-Ángeles, Bertha Molina-Álvarez, Sinhué Díaz-Cuéllar, Bárbara Asch-Daich, Ariadna González-del Angel
Publikováno v:
Molecular Cytogenetics, Vol 12, Iss 1, Pp 1-8 (2019)
Abstract Background The 17p11.2p12 locus is an unstable region that is predisposed to several known genomic disorders and non-recurrent rearrangements that yield varied and wide-ranging phenotypes. Nearly 1% of male newborns have deletions in the Y c
Externí odkaz:
https://doaj.org/article/cd5e458f31fd459084d216370636ff00
Autor:
Liliana Fernández-Hernández, Miriam Erandi Reyna-Fabián, Miguel Angel Alcántara-Ortigoza, Carmen Aláez-Verson, Luis L. Flores-Lagunes, Karol Carrillo-Sánchez, Ariadna González-del Angel
Publikováno v:
Diagnostics, Vol 12, Iss 5, p 1268 (2022)
We present an unusual Mexican patient affected with mucopolysaccharidosis type IIIB (MPS IIIB; also called Sanfilippo B syndrome, MIM #252920) bearing clinical features that have not previously been described for MPS IIIB (growth arrest, hypogonadotr
Externí odkaz:
https://doaj.org/article/011ebabe127c49e6a17c1ce9cfbc0fe9
Autor:
Isabel Ibarra‐González, Cynthia Fernández‐Lainez, Miguel Angel Alcántara‐Ortigoza, Ariadna González‐Del Angel, Liliana Fernández‐Henández, Sara Guillén‐López, Leticia Belmont‐Martínez, Lizbeth López‐Mejía, Gustavo Varela‐Fascinetto, Marcela Vela‐Amieva
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 12, Pp n/a-n/a (2019)
Abstract Background Tyrosinemia type 1 (HT1, MIM#276700) is caused by a deficiency in fumarylacetoacetate hydrolase (FAH) and it is associated with severe liver and renal disfunction. At present, the mutational FAH (15q25.1, MIM*613871) spectrum unde
Externí odkaz:
https://doaj.org/article/1037b1006f50463889fc0583d990d0ca