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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.
Reproductive Biology and Endocrinology : RB&E|December 3, 2017
THBD sequence variants potentially related to recurrent pregnancy lossPaula Quintero-Ronderos, Eric Mercier, Jean-Christophe Gris, 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.
Pharmacogenomics and Personalized Medicine|November 10, 2018
Creating and validating a warfarin pharmacogenetic dosing algorithm for Colombian patientsJubby Marcela Galvez, Carlos Martin Restrepo, Nora Constanza Contreras, et al.
Fertility and Sterility|May 21, 2015
Next generation sequencing in women affected by nonsyndromic premature ovarian failure displays new potential causative genes and mutationsDora Janeth Fonseca, Liliana Catherine Patiño, Yohjana Carolina Suárez, et al.
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