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Pharmacogenomics and Personalized Medicine|March 19, 2020
A Pharmacogenomic Dissection of a Rosuvastatin-Induced Rhabdomyolysis Case Evokes the Polygenic Nature of Adverse Drug ReactionsCarlos Alberto Calderon-Ospina, Mario Hernández-Sómerson, Ana María García, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 19, 2018
ATG7 and ATG9A loss-of-function variants trigger autophagy impairment and ovarian failureClémence Delcour, Larbi Amazit, Liliana C Patino, et al.
BMC Research Notes|October 28, 2017
A first description of the Colombian national registry for rare diseasesHeidi Eliana Mateus, Ana María Pérez, Martha Lucía Mesa, et al.
Clinical Endocrinology|October 24, 2006
Partial defects in transcriptional activity of two novel DAX-1 mutations in childhood-onset adrenal hypoplasia congenitaPaul Laissue, Silvia Copelli, Ignacio Bergada, et al.
Fertility and Sterility|May 18, 2011
Sequence analysis of the CDKN1B gene in patients with premature ovarian failure reveals a novel mutation potentially related to the phenotypeDiego Ojeda, Besma Lakhal, Dora Janneth Fonseca, et al.
The International Journal of Developmental Biology|June 3, 2009
Identification of Quantitative Trait Loci responsible for embryonic lethality in mice assessed by ultrasonographyPaul Laissue, Gaétan Burgio, David l'Hôte, et al.
Iscience|March 5, 2024
Linking genotype to trophoblast phenotype in preeclampsia and HELLP syndrome associated with STOX1 genetic variantsLorenzo Costa, Luis Bermudez-Guzman, Ikram Benouda, et al.
Human Mutation|May 20, 2008
Differential functional effects of novel mutations of the transcription factor FOXL2 in BPES patientsJeyabalan Nallathambi, Paul Laissue, Frank Batista, et al.
The Journal of Clinical Endocrinology and Metabolism|March 31, 2017
BMP15 Mutations Associated With Primary Ovarian Insufficiency Reduce Expression, Activity, or Synergy With GDF9Liliana C Patiño, Kelly L Walton, Thomas D Mueller, et al.
Human Reproduction (Oxford, England)|May 16, 2017
New mutations in non-syndromic primary ovarian insufficiency patients identified via whole-exome sequencingLiliana Catherine Patiño, Isabelle Beau, Carolina Carlosama, et al.
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