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 …
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 …
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 …
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 …
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 …
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 …
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 …
(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
The genetic mechanisms that regulate CFTR, the gene responsible for cystic fibrosis, have
been widely investigated in cultured cells. However, mechanisms responsible for tissue …
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 …
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 …
on antenatal ultrasound in normal fetuses and to compare it to fetuses with bladder …