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European Journal of Human Genetics : EJHG|March 16, 2006
A novel mutation in JARID1C gene associated with mental retardationCristina Santos, Laia Rodriguez-Revenga, Irene Madrigal, et al.
Menopause (New York, N.Y.)|April 18, 2009
Premature ovarian failure and fragile X female premutation carriers: no evidence for a skewed X-chromosome inactivation patternLaia Rodriguez-Revenga, Irene Madrigal, Celia Badenas, et al.
Diagnostics (Basel, Switzerland)|October 23, 2021
The Contribution of QF-PCR and Pathology Studies in the Diagnosis of Diandric Triploidy/Partial MoleLeticia Benítez, Montse Pauta, Cèlia Badenas, et al.
Cytogenetic and Genome Research|September 23, 2016
A 92,XXXY Miscarriage Consecutive to a Digynic Triploid PregnancyAnna Soler, Cèlia Badenas, Ester Margarit, et al.
Fetal Diagnosis and Therapy|January 20, 2020
Cytogenetic Investigation in 136 Consecutive Stillbirths: Does the Tissue Type Affect the Success Rate of Chromosomal Microarray Analysis and Karyotype?Borja Marquès, Leticia Benitez, Anna Peguero, et al.
American Journal of Medical Genetics. Part A|August 18, 2017
Paternal transmission of a FMR1 full mutation alleleMaria Isabel Alvarez-Mora, Miriam Guitart, Laia Rodriguez-Revenga, et al.
Genes|April 30, 2021
Novel Compound Heterozygous Mutation in TRAPPC9 Gene: The Relevance of Whole Genome SequencingMaria Isabel Alvarez-Mora, Jordi Corominas, Christian Gilissen, et al.
Medicina Clinica|May 29, 2009
[Fragile X tremor ataxia syndrome (FXTAS): a new kind of spinocerebelar ataxia associated to fragile X syndrome premutation carriers]Montserrat Milà, Irene Madrigal, Jaime Kulisevsky, et al.
Prenatal Diagnosis|June 21, 2005
46,XY,18q+/46,XY,18q- mosaicism in a fragile X prenatal diagnosisLaia Rodriguez-Revenga, Celia Badenas, Irene Madrigal, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 16, 2013
High apolipoprotein E4 allele frequency in FXTAS patientsFrancisca Silva, Laia Rodriguez-Revenga, Irene Madrigal, et al.
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