Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies

L Devisme, C Bouchet, M Gonzalès, E Alanio, A Bazin… - Brain, 2012 - academic.oup.com
Cobblestone lissencephaly represents a peculiar brain malformation with characteristic
radiological anomalies, defined as cortical dysplasia combined with dysmyelination …

Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations

M Lefebvre, AL Bruel, E Tisserant, N Bourgon… - Journal of medical …, 2021 - jmg.bmj.com
Purpose Molecular diagnosis based on singleton exome sequencing (sES) is particularly
challenging in fetuses with multiple congenital abnormalities (MCA). Indeed, some studies …

Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations

M Legendre, M Gonzales, G Goudefroye… - Journal of medical …, 2012 - jmg.bmj.com
Background CHARGE syndrome is a rare, usually sporadic disorder of multiple congenital
anomalies ascribed to a CHD7 gene mutation in 60% of cases. Although the syndrome is …

[HTML][HTML] Mosaic parental germline mutations causing recurrent forms of malformations of cortical development

JL Zillhardt, K Poirier, L Broix, N Lebrun… - European Journal of …, 2016 - nature.com
To unravel missing genetic causes underlying monogenic disorders with recurrence in
sibling, we explored the hypothesis of parental germline mosaic mutations in familial forms …

Prader‐Willi syndrome: is there a recognizable fetal phenotype?

N Bigi, JM Faure, C Coubes… - … in Affiliation With the …, 2008 - Wiley Online Library
Objectives To determine fetal features, which could lead to the diagnosis of Prader‐Willi
syndrome (PWS) during pregnancy. Methods We analyze the ultrasound features, genetic …

Prevalence and timing of pregnancy termination for brain malformations

C Rouleau, A Gasner, N Bigi, A Couture… - Archives of Disease in …, 2011 - fn.bmj.com
Objective To determine the prevalence and the timing of pregnancy termination relative to
the type of central nervous system (CNS) malformations. Design Retrospective cohort study …

Severe X‐linked chondrodysplasia punctata in nine new female fetuses

M Lefebvre, F Dufernez, AL Bruel… - Prenatal …, 2015 - Wiley Online Library
Objectives Conradi–Hünermann–Happle [X‐linked dominant chondrodysplasia punctata 2
(CDPX2)] syndrome is a rare X‐linked dominant skeletal dysplasia usually lethal in men …

A balance between activating and repressive histone modifications regulates cystic fibrosis transmembrane conductance regulator (CFTR) expression in vivo

A Bergougnoux, I Rivals, A Liquori, C Raynal, J Varilh… - Epigenetics, 2014 - Taylor & Francis
The genetic mechanisms that regulate CFTR, the gene responsible for cystic fibrosis, have
been widely investigated in cultured cells. However, mechanisms responsible for tissue …

Posterior fossa solitary fibrous tumour: report of a fetal case and review of the literature

A Maran-Gonzalez, A Laquerrière, N Bigi… - Journal of Neuro …, 2011 - Springer
We report a case of solitary fibrous tumour (SFT) involving the posterior fossa in a fetus of 25
weeks' gestation. SFT is a rare mesenchymal neoplasm, arising in various locations …

The pubic diastasis measurement, a key element for the diagnosis, management, and prognosis of the bladder exstrophy

J Antomarchi, D Moeglin, H Laurichesse… - Fetal Diagnosis and …, 2019 - karger.com
Objective: To demonstrate the feasibility of measuring the fetal pubic diastasis (PD) distance
on antenatal ultrasound in normal fetuses and to compare it to fetuses with bladder …