• Publications
  • Influence
Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases
Rhombencephalosynapsis is an uncommon cerebellar malformation defined by vermian agenesis with fusion of the hemispheres and of the dentate nuclei. Embryologic and genetic mechanisms are stillExpand
  • 64
  • 10
Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly.
Cobblestone lissencephaly is a peculiar brain malformation with characteristic radiological anomalies. It is defined as cortical dysplasia that results when neuroglial overmigration into theExpand
  • 109
  • 9
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.
Cobblestone lissencephaly represents a peculiar brain malformation with characteristic radiological anomalies, defined as cortical dysplasia combined with dysmyelination, dysplastic cerebellum withExpand
  • 102
  • 5
Fryns syndrome: report on 8 new cases
The name Fryns syndrome was given to a new variable multiple congenital anomaly syndrome, almost always lethal, described in 1978, and now known to be autosomal recessive. Since that date, 20Expand
  • 65
  • 4
Human airway smooth muscle responsiveness in neonatal lung specimens.
The mechanical activity of proximal airways isolated from human lung specimens obtained at autopsy from 11 neonates was studied in response to the following compounds: carbachol, histamine, potassiumExpand
  • 30
  • 3
[Perinatal prognosis of pregnancies complicated by placental chronic intervillitis].
UNLABELLED SUBJECT. Massive Chronic Intervillositis is an infrequent inflammation lesion of the placenta, characterized by lymphohistiocytic intervillous infiltration, associated with fibrinoidExpand
  • 24
  • 3
Donnai‐Barrow syndrome: Four additional patients
In 1993, Donnai and Barrow reported a new syndrome in two sets of sibs and in an unrelated child, including diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, andExpand
  • 26
  • 3
Cyclopia-otocephaly association: a new case of the most severe variant of agnathia-holoprosencephaly complex.
This report describes a new case of true cyclopia with otocephaly and additional brain malformations (alobar holoprosencephaly). This is a very rare occurrence involving lack of cleavage of theExpand
  • 14
  • 2
Immunohistochemical study of the phenotypic change of the mesenchymal cells during portal tract maturation in normal and fibrous (ductal plate malformation) fetal liver
BackgroundIn adult liver, the mesenchymal cells, portal fibroblasts and vascular smooth muscle cells can transdifferentiate into myofibroblasts, and are involved in portal fibrosis. DifferentialExpand
  • 18
  • 2
  • PDF
Les chondromes et chondrosarcome du larynx : à propos de 4 observations
Tumeur de malignite variable, les chondromes et chondrosarcomes du larynx sont rares mais preoccupant en raison de leur siege et des sanctions chirurgicales qu'ils imposent. Leur delimitationExpand
  • 7
  • 2