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MeDIP real‐time qPCR of maternal peripheral blood reliably identifies trisomy 21
To reevaluate the efficiency of the 12 differentially methylated regions (DMRs) used in the methylated DNA immunoprecipitation (MeDIP) real‐time quantitative polymerase chain reaction (real‐timeExpand
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The strength of combined cytogenetic and mate-pair sequencing techniques illustrated by a germline chromothripsis rearrangement involving FOXP2
Next-generation mate-pair sequencing (MPS) has revealed that many constitutional complex chromosomal rearrangements (CCRs) are associated with local shattering of chromosomal regionsExpand
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Implementation of High Resolution Whole Genome Array CGH in the Prenatal Clinical Setting: Advantages, Challenges, and Review of the Literature
Array Comparative Genomic Hybridization analysis is replacing postnatal chromosomal analysis in cases of intellectual disabilities, and it has been postulated that it might also become the first-tierExpand
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A prenatally ascertained, maternally inherited 14.8 Mb duplication of chromosomal bands Xq13.2-q21.31 associated with multiple congenital abnormalities in a male fetus.
Duplications of the X chromosome are rare cytogenetic findings, and have been associated with an abnormal phenotype in the male offspring of apparently normal or near normal female carriers. WeExpand
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Human amniotic fluid stimulates the proliferation of human fetal and adult skin fibroblasts: The roles of bFGF and PDGF and of the ERK and Akt signaling pathways
Fetuses and adults follow different repair strategies for the healing of skin wounds. Experimental evidence indicates that this most probably reflects the intrinsic characteristics of fetal tissue,Expand
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Rare mutations predisposing to familial adenomatous polyposis in Greek FAP patients
BackgroundFamilial Adenomatous Polyposis (FAP) is caused by germline mutations in the APC (Adenomatous Polyposis Coli) gene. The vast majority of APC mutations are point mutations or small insertionsExpand
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Outcome of pregnancies with trisomy 2 cells in chorionic villi
To describe the outcome of pregnancies with trisomy 2 in cultures of first‐trimester chorionic villous samples (CVS) and determine whether amniocentesis is necessary in the management of such cases.
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The secretory proteins of the larval salivary gland of Drosophila melanogaster
The gene for a major salivary gland secretion protein (Sgs-1) in Drosophila melanogaster has been mapped to chromosome 2 between dp (13.0) and cl (16.5). In the late third instar larva, a puff formsExpand
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A simple and effective approach for detecting maternal cell contamination in molecular prenatal diagnosis
The presence of maternal cells in fetal samples constitutes a serious potential source for prenatal misdiagnosis. Here we present our approach for detecting maternal cell contamination (MCC) atExpand
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Genetic skeletal disorders of the fetus and infant: pathologic and molecular findings in a series of 41 cases.
BACKGROUND Genetic skeletal disorders of the fetus and infant are a large group of genetic disorders, comprising the groups formerly assigned as skeletal dysplasias (osteochondrodysplasias),Expand
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