Metabuscador

The molecular complexity of primary ovarian insufficiency aetiology and the use of massively parallel sequencing

por Laissue P.
Publicado 2018

Genetic Variants Contributing to Early Recurrent Pregnancy Loss Etiology Identified by Sequencing Approaches

por Quintero-Ronderos P., Laissue P.
Publicado 2019

The multisystemic functions of FOXD1 in development and disease

por Quintero-Ronderos P., Laissue P.
Publicado 2018

Transcriptomic analysis of FUCA1 knock-down in keratinocytes reveals new insights into the pathogenesis of fucosidosis skin lesions

por Valero-Rubio D., Jiménez K.M., Fonseca D.J., Payán-Gómez C., Laissue P.
Publicado 2018

Functional evidence implicating NOTCH2 missense mutations in primary ovarian insufficiency etiology

por Patiño L.C., Beau I., Morel A., Delemer B., Young J., Binart N., Laissue P.
Publicado 2019

Biallelic HERC1 mutations in a syndromic form of overgrowth and intellectual disability

por "Ortega?Recalde, O., Beltrán, O.I., Gálvez, J.M., Palma?Montero, A., Restrepo, C.M., Mateus, H.E., Laissue, P."
Publicado 2015

004 - A Novel Familial Case of Diffuse Leukodystrophy Related to NDUFV1 Compound Heterozygous Mutations

por Rivera-Nieto, C., Mateus, H., Ortega-Recalde, O., Fonseca,D., Patiño, L., Restrepo, C., Van der Knaap, M., Laissue, P.
Publicado 2013

ATG7 and ATG9A loss-of-function variants trigger autophagy impairment and ovarian failure

por Delcour C., Amazit L., Patino L.C., Magnin F., Fagart J., Delemer B., Young J., Laissue P., Binart N., Beau I.
Publicado 2019

Novel LVNC genetic aetiology discovered by an original whole-exome sequencing data combinatory filtering method

por Gallo Bernal, S, Carlosama, C., Medina, H., Contreras, J., Cabrera, R., Forero, J.F., Huertas Quiñones, Víctor Manuel, Torres, A., Laissue, P.
Publicado 2019

Sequence analysis of the CDKN1B gene in patients with premature ovarian failure reveals a novel mutation potentially related to the phenotype

por Ojeda D., Lakhal B., Fonseca D.J., Braham R., Landolsi H., Mateus H.E., Restrepo C.M., Elghezal H., Saâd A., Laissue P.
Publicado 2011

Genomic Medicine in Developing Countries and Resource-Limited Environments

por Katsila T., Mitropoulos K., Mohamed Z., Forero D.A., Laissue P., Wonkam A., Lopez-Correa C., Chantratita W., Llerena A., Ali B.R., Patrinos G.P.
Publicado 2017

"A novel TGM1 mutation, leading to multiple splicing rearrangements, is associated with autosomal recessive congenital ichthyosis"

por "Ortega?Recalde, O., Moreno, M. B., Vergara, J. I., Fonseca, D. J., Rojas, R. F., Mosquera, H., Medina, C. L., Restrepo, C. M., Laissue, P."
Publicado 2015

Possible Genetic Determinants of Response to Phenytoin in a Group of Colombian Patients With Epilepsy

por Calderon-Ospina, C. A., Galvez, J. M., López-Cabra, C., Morales. N., Restrepo, C. M., Rodríguez, J., Aristizábal-Gutiérrez, F. A., Velez-van-Meerbeke, A., Laissue, P., Fonseca-Mendoza, D. J.
Publicado 2020

Mutant GNLY is linked to Stevens–Johnson syndrome and toxic epidermal necrolysis

por Fonseca D.J., Caro L.A., Sierra-Díaz D.C., Serrano-Reyes C., Londoño O., Suárez Y.C., Mateus H.E., Bolívar-Salazar D., Ramírez A.F., de-la-Torre A., Laissue P.
Publicado 2019