Zobrazeno 1 - 10
of 314
pro vyhledávání: '"D Fontan"'
Autor:
Georges Deschênes, G Ponsot, D Fontan, D Graber, Corinne Antignac, A Coulin, Y Hermouet, Jean-Michel Pedespan
Publikováno v:
Archives de Pédiatrie. 8:186-190
Resume Les hypoplasies vermiennes associant diversement retinopathie, nephropathie et hepatopathie sont des syndromes rares de nosologie incertaine dont nous rapportons trois nouvelles observations. Observations. – Cas 1. Un garcon de trois mois a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::92ee124a9e7a1f2813488d16229259b1
https://doi.org/10.1016/s0929-693x(00)00183-4
https://doi.org/10.1016/s0929-693x(00)00183-4
Autor:
Jean-Michel Pedespan, Jean-François Chateil, Delphine Denis, M. Brun, Véronique Flurin, Olivier Brissaud, Didier Lacombe, D. Fontan
Publikováno v:
Brain and Development. 22:475-483
Schizencephaly is an uncommon structural disorder of cerebral cortical development, characterized by congenital clefts spanning the cerebral hemispheres from the pial surface to the lateral ventricles and lined by cortical gray matter. Either an ante
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc9415d95cf8d67d98cc1fde96cabbd2
https://doi.org/10.1016/s0387-7604(00)00173-x
https://doi.org/10.1016/s0387-7604(00)00173-x
Publikováno v:
Geological Society, London, Special Publications. 170:431-453
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::996c286ea49e48366d568335dfc81a67
https://doi.org/10.1144/gsl.sp.2000.170.01.23
https://doi.org/10.1144/gsl.sp.2000.170.01.23
Autor:
P. Henry, Alain Lagueny, C Ribière-Bachelier, Klaus G. Petry, D Latinville, J M Orgogozo, M Barat, Jean Julien, Claude Vital, P Desbordes, A Bredin, G Gbikpi-Benissan, Xavier Ferrer, Anne Vital, D Fontan, Christiane Brechenmacher
Publikováno v:
Ultrastructural Pathology. 24:363-369
The authors recently reexamined the peripheral nerve biopsies from 42 patients with chronic inflammatory demyelinating polyneuropathy (CIDP). There were 27 males and 15 females, aged from 9 to 84 years, and 13 had relapses. No patient had vasculitis,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0976c995631bb4ca02c8c11be8d00b4
https://doi.org/10.1080/019131200750060023
https://doi.org/10.1080/019131200750060023
Publikováno v:
Archives de Pédiatrie. 5:880-883
Resume La myopathie facio-scapulohumerale est une affection autosomique dominante dont le locus a ete identifie dans la region telomerique du chromosome 4 en 4q3S. Elle parait avoir un taux de mutation elevee. Observation Une enfant presente des l'en
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6ff3b6ca6a8aa5dfcdb3a3313fb42ce4
https://doi.org/10.1016/s0929-693x(98)80131-0
https://doi.org/10.1016/s0929-693x(98)80131-0
Autor:
L Pedespan-Joly, Jean-François Chateil, D. Fontan, Jean-Michel Pedespan, J.L. Demarquez, J.M. Guillard
Publikováno v:
Archives de Pédiatrie. 3:561-565
Resume La thrombose des veines et sinus intracraˆniens, secondaire ou apparemment primitive, reste encore volontiers meconnue, en particulier avant l'aˆge de 1 an. Observations. - De 1988a1994, 11 enfants ont presentedans la premiere annee de vie u
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7fb7fad7019880d8f4ad1fb052dd2826
https://doi.org/10.1016/0929-693x(96)83227-1
https://doi.org/10.1016/0929-693x(96)83227-1
Publikováno v:
Epilepsia. 36:37-40
Summary: A case of early epileptic encephalopathy (EIEE) with suppression-bursts or Ohtahara's syndrome, associated with focal cortical dysplasia is reported. Infantile spasms and brief tonic unilateral seizures began on the fifth day of life. Interi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04286bad0eb4a4ea66b4957873850fd8
https://doi.org/10.1111/j.1528-1157.1995.tb01662.x
https://doi.org/10.1111/j.1528-1157.1995.tb01662.x
Autor:
D. Fontan, Françoise Fouque, I. Redonnet-Vernhet, Runu Dey, Monique Malgat, Cécile Marsac, C Benelli
Publikováno v:
Journal of Inherited Metabolic Disease. 25:325-327
We identified a new Y243S mutation in the X-linked E1 α-PDH gene in a patient with pyruvate dehydrogenase complex (PDHc) deficiency. The activity in cultured fibroblasts was very low even in the presence of high thiamine pyrophosphate (TPP) concentr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1f20767bdffeb20da9fec523333ac872
https://doi.org/10.1023/a:1016570828778
https://doi.org/10.1023/a:1016570828778
Publikováno v:
Archives de Pédiatrie. 9:503-505
UNLABELLED Neonatal lupus erythematosus is a rare disorder characterized by cutaneous lesions of the face and/or congenital heart block. The transplacental transfer of maternal anti-Ro/SSA, anti-La/SSB, or anti-U1RNP antibodies is responsible for the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0499261f754dad095fafb6cc6d2fd810
https://doi.org/10.1016/s0929-693x(01)00833-8
https://doi.org/10.1016/s0929-693x(01)00833-8
Publikováno v:
Neuropediatrics. 24:83-87
The authors report three children who suffered temporary oromotor or speech disturbances as focal epileptic manifestations within the frame of benign partial epilepsy of childhood with rolandic spikes and review similar cases described in the literat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6126ca0c916f855ac3346ee54d5d416a
https://doi.org/10.1055/s-2008-1071519
https://doi.org/10.1055/s-2008-1071519