about
First-trimester screening for trisomy 21 combining biochemistry and ultrasound at individually optimal gestational ages. An interventional studyX-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation.IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign.Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene.Marfan syndrome: ocular findings and novel mutations-in pursuit of genotype-phenotype associations.Study of a fetal brain affected by a severe form of tyrosine hydroxylase deficiency, a rare cause of early parkinsonism.Prevalence of Y chromosome microdeletions in oligospermic and azoospermic candidates for intracytoplasmic sperm injection.Fragile X syndrome prenatal diagnosis: parental attitudes and reproductive responses.Increased nuchal translucency and normal karyotype: perinatal and pediatric outcomes at 2 years of age.Deletion of the OPHN1 gene detected by aCGH.MLPA as first screening method for the detection of microduplications and microdeletions in patients with X-linked mental retardation.Analysis of CGG variation through 642 meioses in Fragile X families.A female compound heterozygote (pre- and full mutation) for the CGG FMR1 expansion.Prenatal diagnosis of fragile X syndrome: (CGG)n expansion and methylation of chorionic villus samples.A 92,XXXY Miscarriage Consecutive to a Digynic Triploid Pregnancy.CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms.Familial 4.8 MB deletion on 18q23 associated with growth hormone insufficiency and phenotypic variabilityRare variants in the promoter of the fragile X syndrome gene (FMR1)Polymorphisms at 13 expressed human sequences containing CAG/CTG repeats and analysis in autosomal dominant cerebellar ataxia (ADCA) patientsMolecular analysis of the (CGG)n expansion in the FMR-1 gene in 59 Spanish fragile X syndrome familiesUse of fetal nuchal translucency in the first trimester to predict single-gene disordersPrevalence and perinatal outcome of dichorionic and monochorionic twins with nuchal translucency above the 99thpercentile and normal karyotypeMLPA: A prenatal diagnostic tool for the study of congenital heart defects?Subtelomeric MLPA: is it really useful in prenatal diagnosis?Prenatal diagnosis of two different unbalanced forms of an inherited (Y;12) translocationCytogenetic study of spontaneous abortions using semi-direct analysis of chorionic villi samples detects the broadest spectrum of chromosome abnormalitiesDuplication/deletion mosaicism of the 7q(21.1 → 31.3) regionDiagnóstico citogenético posnatal en España: análisis, evolución y evaluación de resultados en una décadaTrisomy of 19.4 Mb region of chromosome 22 and subtelomeric 17p identified in a male without clinical affectationRecombination in a male carrier of two reciprocal translocations involving chromosomes 14, 14′, 15, and 21 leading to balanced and unbalanced rearrangements in offspringVacuum container aspiration as a new technique for genetic amniocentesisPrenatal cytogenetic diagnosis in Spain: analysis and evaluation of the results obtained from amniotic fluid samples during the last decadeMethylation screening of reciprocal genome-wide UPDs identifies novel human-specific imprinted genesChromosomal anomaly spectrum in early pregnancy loss in relation to presence or absence of an embryonic poleDescription of the smallest critical region for Dandy-Walker malformation in chromosome 13 in a girl with a cryptic deletion related to t(6;13)(q23;q32)Characterization of a 5.8-Mb interstitial deletion of chromosome 3p in a girl with 46,XX,inv(7)dn karyotype and phenotypic abnormalitiesFast protocol for the diagnosis of lysosomal diseases in nonimmune hydrops fetalisNuchal translucency thickness in the prediction of unbalanced translocations
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description
researcher ORCID ID=0000-0003-1167-1451
@en
name
A Sánchez
@en
A Sánchez
@nl
type
label
A Sánchez
@en
A Sánchez
@nl
prefLabel
A Sánchez
@en
A Sánchez
@nl
P106
P31
P496
0000-0003-1167-1451