Concepedia

M. Tarilonte

MT

3

Publications

94

Citations

3

H-Index

2018

Active since

Affiliations

Instituto de Salud Carlos III(Current)

Hospital Universitario Fundación Jiménez Díaz

Centre for Biomedical Network Research on Rare Diseases

Universidad Autónoma de Madrid

Université Fédérale de Toulouse Midi-Pyrénées

M. Tarilonte is an author at Instituto de Salud Carlos III specializing in molecular genetics, medicine, and genetics.

Top concepts

Publications per year

2018–2021

3

Publications

3

Implication of non-coding PAX6 mutations in aniridia

Julie Plaisancié, M. Tarilonte, Patrícia Locosque Ramos et al. · Human Genetics · 2018 · 54 citations

, , +6

Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia

M. Tarilonte, Matías Morin, Patrícia Locosque Ramos et al. · Frontiers in Genetics · 2018 · 28 citations · Full text

Activation of cryptic donor splice sites by non-coding and coding <i>PAX6</i> variants contributes to congenital aniridia

M. Tarilonte, Patrícia Locosque Ramos, Jennifer Moya et al. · Journal of Medical Genetics · 2021 · 12 citations

, , +14

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