Nicole Joye
Paris, France
Last Updated: 09/26/2026
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Found 10 publications
Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non-homologous Robertsonian translocation. Should we still perform prenatal diagnosis?
Journal: Prenatal diagnosis
Published: March 11, 2019
In utero ultrasound diagnosis of corpus callosum agenesis leading to the identification of orofaciodigital type 1 syndrome in female fetuses.
Journal: Birth defects research
Published: July 21, 2017
Potential selection of genetically balanced spermatozoa based on the hypo-osmotic swelling test in chromosomal rearrangement carriers.
Journal: Reproductive biomedicine online
Published: December 20, 2016
Mosaic-activating FGFR2 mutation in two fetuses with papillomatous pedunculated sebaceous naevus.
Journal: The British journal of dermatology
Published: April 12, 2016
De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy.
Journal: European journal of medical genetics
Published: July 17, 2015
Severe X-linked chondrodysplasia punctata in nine new female fetuses.
Journal: Prenatal diagnosis
Published: September 30, 2014
First Birth after Sperm Selection through Discontinuous Gradient Centrifugation and Artificial Insemination from a Chromosomal Translocation Carrier.
Journal: Case reports in genetics
Published: October 03, 2013
Discontinuous gradient centrifugation (DGC) decreases the proportion of chromosomally unbalanced spermatozoa in chromosomal rearrangement carriers.
Journal: Human reproduction (Oxford, England)
Published: May 02, 2013
Simultaneous cell by cell study of both DNA fragmentation and chromosomal segregation in spermatozoa from chromosomal rearrangement carriers.
Journal: Journal of assisted reproduction and genetics
Published: October 01, 2012
Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome.
Journal: European journal of medical genetics
Published: November 06, 2011
Showing 1-10 of 10
Last Updated: 09/26/2026