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M. Rodríguez de Alba

Complutense University of Madrid

16

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358

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56. A NEW AGE IN PGT-M: A DECADE´S EXPERIENCE AND NEW CHALLENGES TO DEAL WITH

2019 Reproductive Biomedicine Online
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Los defectos en las extremidades, una facies peculiar y el fallo de medro no siempre constituyen un síndrome de Cornelia de Lange

2016 Acta pediátrica española
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Improvement in strategies for the non-invasive prenatal diagnosis of Huntington disease.

2008 Journal of Assisted Reproduction and Genetics
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Early Huntington disease prenatal diagnosis by maternal semiquantitative fluorescent-PCR

2003 Neurology
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Prenatal detection of a cystic fibrosis mutation in fetal DNA from maternal plasma.

2002 Prenatal Diagnosis
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Prenatal diagnosis on fetal cells from maternal blood: practical comparative evaluation of the first and second trimesters.

2001 Prenatal Diagnosis
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Sonographic, Cytogenetic and DNA Analysis in Four 69,XXX Fetuses Diagnosed in the Second Trimester

2000 Fetal Diagnosis and Therapy
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Cryptic 6q subtelomeric deletion associated with a paracentric inversion in a mildly retarded child

2000 American Journal of Medical Genetics
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Rapid identification of a small dicentric supernumerary marker derived from chromosome 16 with a modified FISH technique on amniotic fluid

2000 Prenatal Diagnosis
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Ser186Pro mutation of RHO gene in a Spanish autosomal dominant retinitis pigmentosa (ADRP) family

2000 Ophthalmic Genetics
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