Nicole Bigi
Montpellier, France
Last Updated: 09/26/2026
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Found 9 publications
Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations.
Journal: Journal of medical genetics
Published: February 24, 2020
Mosaic complete tetrasomy 21 in a fetus with complete atrioventricular septal defect and minor morphological variations.
Journal: Molecular genetics & genomic medicine
Published: January 21, 2019
The Pubic Diastasis Measurement, a Key Element for the Diagnosis, Management, and Prognosis of the Bladder Exstrophy.
Journal: Fetal diagnosis and therapy
Published: February 12, 2018
Mosaic parental germline mutations causing recurrent forms of malformations of cortical development.
Mosaic parental germline mutations causing recurrent forms of malformations of cortical development.
Journal: European journal of human genetics : EJHG
Published: May 12, 2015
Absent or hypoplastic thymus: A marker for 22q11.2 microdeletion syndrome in case of polyhydramnios
Journal: Journal de gynecologie, obstetrique et biologie de la reproduction
Published: January 06, 2015
Severe X-linked chondrodysplasia punctata in nine new female fetuses.
Journal: Prenatal diagnosis
Published: September 30, 2014
A balance between activating and repressive histone modifications regulates cystic fibrosis transmembrane conductance regulator (CFTR) expression in vivo.
Journal: Epigenetics
Published: May 01, 2014
Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations.
Journal: Journal of medical genetics
Published: October 02, 2012
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.
Journal: Brain : a journal of neurology
Published: February 11, 2012
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Last Updated: 09/26/2026