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 …

[PDF][PDF] Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita

G Ravenscroft, F Nolent, S Rajagopalan… - The American Journal of …, 2015 - cell.com
Arthrogryposis multiplex congenita is defined by the presence of contractures across two or
more major joints and results from reduced or absent fetal movement. Here, we present …

Characteristics and outcome of fetal cystic hygroma diagnosed in the first trimester

O Graesslin, E Derniaux, E Alanio… - Acta obstetricia et …, 2007 - Taylor & Francis
Objective. The aim of this study was to determine the course of pregnancy and the neonatal
outcome of fetuses with cystic hygroma diagnosed at 10–14 weeks' gestation. Methods …

Fetal phenotype associated with the 22q11 deletion

AC Noël, F Pelluard, AL Delezoide… - American Journal of …, 2014 - Wiley Online Library
The 22q11 deletion syndrome is one of the most common human microdeletion syndromes,
with a wide spectrum of abnormalities. The fetal phenotype associated with the 22q11 …

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 …

Bardet‐Biedl syndrome: Antenatal presentation of forty‐five fetuses with biallelic pathogenic variants in known Bardet‐Biedl syndrome genes

L Mary, K Chennen, C Stoetzel, M Antin… - Clinical …, 2019 - Wiley Online Library
Bardet‐Biedl syndrome (BBS) is an emblematic ciliopathy associated with retinal dystrophy,
obesity, postaxial polydactyly, learning disabilities, hypogonadism and renal dysfunction …

49 Hyperclarté nucale et hygroma cervical au 1er trimestre de la grossesse: diagnostic prénatal et devenir néonatal

D Guillaume, G Olivier, C Pierre-Francois… - Journal de Gynécologie …, 2005 - Elsevier
Objectif Analyser de façon prospective le devenir des fœtus porteurs d'une hyperclarté
nucale (HN)> 95 e percentile pour le terme (estimé sur la longueur cranio-caudale du fœtus) …