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Authors whose works are in public domain in at least one jurisdiction

List of works by Aurora Sanchez Diaz

A 92,XXXY Miscarriage Consecutive to a Digynic Triploid Pregnancy.

scientific article published on 22 September 2016

A female compound heterozygote (pre- and full mutation) for the CGG FMR1 expansion.

scientific article published in October 1996

Analysis of CGG variation through 642 meioses in Fragile X families.

scientific article published on 20 August 2004

CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms.

scientific article published in June 2010

Characterization of a 5.8-Mb interstitial deletion of chromosome 3p in a girl with 46,XX,inv(7)dn karyotype and phenotypic abnormalities

scientific article published on 27 October 2009

Chromosomal anomaly spectrum in early pregnancy loss in relation to presence or absence of an embryonic pole

scientific article published on 31 May 2010

Cytogenetic study of spontaneous abortions using semi-direct analysis of chorionic villi samples detects the broadest spectrum of chromosome abnormalities

article

Deletion of the OPHN1 gene detected by aCGH.

scientific article published in March 2008

Description 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)

scientific article published on 01 September 2010

Diagnóstico citogenético posnatal en España: análisis, evolución y evaluación de resultados en una década

article

Duplication/deletion mosaicism of the 7q(21.1 → 31.3) region

scientific article published on 01 January 2007

Familial 4.8 MB deletion on 18q23 associated with growth hormone insufficiency and phenotypic variability

scientific article published on 02 February 2012

Fast protocol for the diagnosis of lysosomal diseases in nonimmune hydrops fetalis

scientific article published on 18 September 2012

First-trimester screening for trisomy 21 combining biochemistry and ultrasound at individually optimal gestational ages. An interventional study

scientific article

Fragile X syndrome prenatal diagnosis: parental attitudes and reproductive responses.

scientific article published on 16 June 2010

IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign.

scientific article

Increased nuchal translucency and normal karyotype: perinatal and pediatric outcomes at 2 years of age.

scientific article published in January 2012

MLPA as first screening method for the detection of microduplications and microdeletions in patients with X-linked mental retardation.

scientific article published in February 2007

MLPA: A prenatal diagnostic tool for the study of congenital heart defects?

article

Marfan syndrome: ocular findings and novel mutations-in pursuit of genotype-phenotype associations.

scientific article

Methylation screening of reciprocal genome-wide UPDs identifies novel human-specific imprinted genes

scientific article published on 18 May 2011

Molecular analysis of the (CGG)n expansion in the FMR-1 gene in 59 Spanish fragile X syndrome families

article

Nuchal translucency thickness in the prediction of unbalanced translocations

scientific article published on 11 June 2014

Polymorphisms at 13 expressed human sequences containing CAG/CTG repeats and analysis in autosomal dominant cerebellar ataxia (ADCA) patients

scientific article published on 01 November 1997

Prenatal cytogenetic diagnosis in Spain: analysis and evaluation of the results obtained from amniotic fluid samples during the last decade

scientific article published on 13 April 2011

Prenatal diagnosis of chromosomal abnormalities in fetuses with abnormal cardiac ultrasound findings: evaluation of chromosomal microarray‐based analysis ⬇️

scientific article published on March 4, 2013

Prenatal diagnosis of fragile X syndrome: (CGG)n expansion and methylation of chorionic villus samples.

scientific article

Prenatal diagnosis of two different unbalanced forms of an inherited (Y;12) translocation

scientific article published on 01 December 2009

Prevalence and perinatal outcome of dichorionic and monochorionic twins with nuchal translucency above the 99thpercentile and normal karyotype

scientific article published on 01 January 2010

Prevalence of Y chromosome microdeletions in oligospermic and azoospermic candidates for intracytoplasmic sperm injection.

scientific article published in September 1998

Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene.

scientific article

Rare variants in the promoter of the fragile X syndrome gene (FMR1)

article

Recombination in a male carrier of two reciprocal translocations involving chromosomes 14, 14′, 15, and 21 leading to balanced and unbalanced rearrangements in offspring

scientific article published on 01 April 2005

Study of a fetal brain affected by a severe form of tyrosine hydroxylase deficiency, a rare cause of early parkinsonism

scientific article published on 21 December 2015

Subtelomeric MLPA: is it really useful in prenatal diagnosis?

scientific article published on 01 December 2010

Trisomy of 19.4 Mb region of chromosome 22 and subtelomeric 17p identified in a male without clinical affectation

scientific article published on 01 October 2007

Use of fetal nuchal translucency in the first trimester to predict single-gene disorders

article

Vacuum container aspiration as a new technique for genetic amniocentesis

scientific article published on 01 October 2008

X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation.

scientific article

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