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- Publications
- Influence
Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases
- L. Pasquier, P. Marcorelles, +9 authors A. Laquérriere
- Biology, Medicine
- Acta Neuropathologica
- 1 February 2009
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 still… Expand
Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly.
- S. Vuillaumier-Barrot, C. Bouchet-Séraphin, +23 authors N. Seta
- Biology, Medicine
- American journal of human genetics
- 7 December 2012
Cobblestone lissencephaly is a peculiar brain malformation with characteristic radiological anomalies. It is defined as cortical dysplasia that results when neuroglial overmigration into the… Expand
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.
- L. Devisme, C. Bouchet, +34 authors F. Encha-Razavi
- Biology, Medicine
- Brain : a journal of neurology
- 1 February 2012
Cobblestone lissencephaly represents a peculiar brain malformation with characteristic radiological anomalies, defined as cortical dysplasia combined with dysmyelination, dysplastic cerebellum with… Expand
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, 20… Expand
Human airway smooth muscle responsiveness in neonatal lung specimens.
- M. Fayon, A. Benjebria, +4 authors R. Marthan
- Medicine
- The American journal of physiology
- 1 August 1994
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, potassium… Expand
[Perinatal prognosis of pregnancies complicated by placental chronic intervillitis].
- C. Rota, D. Carles, V. Schaeffer, F. Guyon, R. Saura, J. Horovitz
- Medicine
- Journal de gynecologie, obstetrique et biologie…
- 2006
UNLABELLED
SUBJECT. Massive Chronic Intervillositis is an infrequent inflammation lesion of the placenta, characterized by lymphohistiocytic intervillous infiltration, associated with fibrinoid… Expand
Donnai‐Barrow syndrome: Four additional patients
- N. Chassaing, D. Lacombe, D. Carles, P. Calvas, R. Saura, E. Bieth
- Medicine, Biology
- American journal of medical genetics. Part A
- 1 September 2003
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, and… Expand
Cyclopia-otocephaly association: a new case of the most severe variant of agnathia-holoprosencephaly complex.
- D. Carles, F. Serville, M. Mainguené, J. Dubecq
- Biology, Medicine
- Journal of craniofacial genetics and…
- 1987
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 the… Expand
Immunohistochemical study of the phenotypic change of the mesenchymal cells during portal tract maturation in normal and fibrous (ductal plate malformation) fetal liver
- J. Villeneuve, F. Pelluard-Nehmé, +6 authors S. Lepreux
- Medicine
- Comparative hepatology
- 14 July 2009
BackgroundIn adult liver, the mesenchymal cells, portal fibroblasts and vascular smooth muscle cells can transdifferentiate into myofibroblasts, and are involved in portal fibrosis. Differential… Expand
Les chondromes et chondrosarcome du larynx : à propos de 4 observations
- J. Verhulst, M. Gál, +4 authors L. Traissac
- Medicine
- 1996
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 delimitation… Expand
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