Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Irene Paradisi"'
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 22, Iss 1, Pp 1-14 (2021)
Abstract Background Among ten hearing-impaired (HI) families mostly of German descent dwelling the Venezuelan isolate Colonia Tovar, which were initially studied several decades ago to assess the etiology of their profound/prelingual nonsyndromic dea
Externí odkaz:
https://doaj.org/article/a44509845791451c9c5447640926837a
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 21, Iss 1, Pp 1-8 (2020)
Abstract Background Spinal muscular atrophy (SMA) is mostly caused by homozygous deletions in the survival motor neuron 1 (SMN1) gene. SMN2, its paralogous gene, is a genetic modifier of the disease phenotype, and its copy number is correlated with S
Externí odkaz:
https://doaj.org/article/4155afa22ad5416a9d7a97e3586ced9d
Autor:
Álvaro Rodríguez, Sara Flores-Gutiérrez, Liana Fernández Gil, Irene Paradisi, Giulianna Antonelli, Dinorah Castro de Guerra
Publikováno v:
Revista Argentina de Antropología Biológica, Vol 23, Iss 2 (2021)
Los marcadores informativos de ancestralidad (AIM) autosómicos y los del ADN mitocondrial (ADNmt) son muy útiles para identificar el origen y los patrones de migración de las poblaciones. En este trabajo se estimó el mestizaje a partir de siete A
Externí odkaz:
https://doaj.org/article/b6d4860b16d74ce99010c2737931485f
Autor:
Greta Rodríguez-Arroyo, Irene Paradisi, Merlyn Vívenes-Lugo, Dinorah Castro-Guerra, Álvaro Rodríguez-Larralde
Publikováno v:
Biomédica: revista del Instituto Nacional de Salud, Vol 36, Iss 1, Pp 78-90 (2016)
Introducción. La prevalencia del sobrepeso, la obesidad y algunas enfermedades crónicas no transmisibles ha aumentado; sus causas pueden ser genéticas, epigenéticas o ambientales, por lo cual es importante evaluar la variabilidad en estas interac
Externí odkaz:
https://doaj.org/article/4a4a987bef584b6f9d6b4fde0acacd21
Publikováno v:
Investigación Clínica. 60:269-274
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f2f4c10e769a949218204832782f6d8e
https://doi.org/10.22209/ic.v60n4a01
https://doi.org/10.22209/ic.v60n4a01
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 22, Iss 1, Pp 1-14 (2021)
Background Among ten hearing-impaired (HI) families mostly of German descent dwelling the Venezuelan isolate Colonia Tovar, which were initially studied several decades ago to assess the etiology of their profound/prelingual nonsyndromic deafness phe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aed5f123fd1d6cda00c9e1e9b7e33c77
https://doi.org/10.1186/s43042-021-00159-8
https://doi.org/10.1186/s43042-021-00159-8
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 21, Iss 1, Pp 1-8 (2020)
Background Spinal muscular atrophy (SMA) is mostly caused by homozygous deletions in the survival motor neuron 1 (SMN1) gene. SMN2, its paralogous gene, is a genetic modifier of the disease phenotype, and its copy number is correlated with SMA severi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc26472b0d7d7475b764c6759b4adb87
https://doi.org/10.1186/s43042-020-00070-8
https://doi.org/10.1186/s43042-020-00070-8
Publikováno v:
Hormones. 17:197-204
5-α-Reductase type 2 enzyme catalyzes the conversion of testosterone into dihydrotestosterone, a potent androgen responsible for male sexual development during the fetal period and later during puberty. Its deficiency causes an autosomal recessive d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21e88eb1bfd903137ef7c68225652c0f
https://doi.org/10.1007/s42000-018-0013-9
https://doi.org/10.1007/s42000-018-0013-9
Autor:
Irene Paradisi, Liana Fernández Gil, Giulianna Antonelli, Dinorah Castro de Guerra, Alvaro Rodriguez, Sara Flores-Gutiérrez
Publikováno v:
Revista Argentina de Antropología Biológica, Vol 23, Iss 2 (2021)
SEDICI (UNLP)
Universidad Nacional de La Plata
instacron:UNLP
SEDICI (UNLP)
Universidad Nacional de La Plata
instacron:UNLP
Los marcadores informativos de ancestralidad (AIM) autosómicos y los del ADN mitocondrial (ADNmt) son muy útiles para identificar el origen y los patrones de migración de las poblaciones. En este trabajo se estimó el mestizaje a partir de siete A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62eeeca2cf9b4a3c9dbe0ffae14b966e
https://doi.org/10.24215/18536387e035
https://doi.org/10.24215/18536387e035
Publikováno v:
Journal of Human Genetics. 62:235-241
Martin–Bell syndrome is mainly caused by the expansion of CGG trinucleotide repeats (>200 CGG) in the first exon of the FMR1 gene, leading to hypermethylation of the promoter region and silencing of the FMR1 protein expression. These changes are re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61c75441c4498380583af237873689f5
https://doi.org/10.1038/jhg.2016.114
https://doi.org/10.1038/jhg.2016.114