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Revista De Neurologia|March 14, 2001
[Clinical, biomedical , neurological and molecular study of 11 patients with new mutations in PAH gene]J Mallolas, M A Vilaseca, J Campistol, et al.
Prenatal Diagnosis|July 13, 2002
Pilot study for the neonatal screening of fragile X syndromeM Rifé, J Mallolas, C Badenas, et al.
Cytogenetic and Genome Research|October 30, 2009
Characterization of a 5.8-Mb interstitial deletion of chromosome 3p in a girl with 46,XX,inv(7)dn karyotype and phenotypic abnormalitiesC Morales, I Mademont-Soler, L Armengol, et al.
Oncogene|September 26, 2001
A melanoma-associated germline mutation in exon 1beta inactivates p14ARFH Rizos, S Puig, C Badenas, et al.
Human Genetics|October 13, 2000
Detection of the fragile X syndrome protein for the evaluation of FMR1 intermediate allelesS Castellví-Bel, M Fernández-Burriel, M Rifé, et al.
Prenatal Diagnosis|September 1, 1995
Prenatal diagnosis of fragile X syndrome: (CGG)n expansion and methylation of chorionic villus samplesS Castellví-Bel, M Milà, A Soler, et al.
Genetic Testing|March 6, 2004
Incidence of fragile X in 5,000 consecutive newborn malesM Rifé, C Badenas, J Mallolas, et al.
Clinical Genetics|March 23, 2004
Cryptic chromosomal rearrangement screening in 30 patients with mental retardation and dysmorphic featuresL Rodriguez-Revenga, C Badenas, A Sánchez, et al.
Human Genetics|October 28, 1997
Screening for FMR1 and FMR2 mutations in 222 individuals from Spanish special schools: identification of a case of FRAXE-associated mental retardationM Milà, A Sànchez, C Badenas, et al.
American Journal of Medical Genetics. Part A|April 14, 2007
Contiguous deletion of the NDP, MAOA, MAOB, and EFHC2 genes in a patient with Norrie disease, severe psychomotor retardation and myoclonic epilepsyL Rodriguez-Revenga, I Madrigal, L S Alkhalidi, et al.
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