Zobrazeno 1 - 10
of 129
pro vyhledávání: '"N, Mulliez"'
Publikováno v:
Journal of Lipid Research, Vol 37, Iss 6, Pp 1325-1333 (1996)
The impaired conversion of 7-dehydrocholesterol to cholesterol, as a result of a permanent inhibition of the activity of 7-dehydrocholesterol-delta 7-reductase, has been reported in the Smith-Lemli-Opitz (SLO) syndrome (1, 2). For the purpose of expe
Externí odkaz:
https://doaj.org/article/ec2a44cdd840416395062296a100f4bf
Autor:
M.-Ch. Dauge-Geffroy, M.-Cl. Imbert, J.Cl. Larroche, N. Mulliez, D. Gaillard, A.-L. Delezoide
Publikováno v:
Revue Française des Laboratoires. 1998:33-39
Resume Les auteurs presentent ici les resultats d'une etude de cohorte, etude collaborative effectuee chez 313 grossesses gemellaires ou multiples, dans douze centres francais, entre 1988 et 1990. Ce travail a permis de decrire une grande partie de l
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::470bb6a5b1f14f3a7279315988a6e4a0
https://doi.org/10.1016/s0338-9898(98)80006-1
https://doi.org/10.1016/s0338-9898(98)80006-1
Publikováno v:
Revue Française des Laboratoires. 1998:41-45
Resume Pour se developper normalement, le fœtus a besoin de bouger. Un espace intra-uterin correct et l'integrite des elements neuro-musculaires controlant sa motricite volontaire sont indispensables. La sequence malformative d'immobilite fœtale es
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::714d6e3ef5fef5dd5d064dafb44a023b
https://doi.org/10.1016/s0338-9898(98)80007-3
https://doi.org/10.1016/s0338-9898(98)80007-3
Publikováno v:
Teratology. 56:188-200
To confirm that blocking 7-dehydrocholesterol delta 7 reductase (7DHC reductase), as observed in Smith-Lemli-Opitz syndrome (SLOS), induces craniofacial defects, we tested BM15.766, which blocks 7DHC reductase but is chemically unrelated to the holop
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b46cd10c218d8b775bb2a483e15278c9
https://doi.org/10.1002/(sici)1096-9926(199709)56:3<188::aid-tera2>3.0.co
https://doi.org/10.1002/(sici)1096-9926(199709)56:3<188::aid-tera2>3.0.co
Autor:
Jeanne Claudie Larroche, N. Mulliez, Helen C. Kondo, Ferechté Razavi, Joelle Roume, Marie Gonzales
Publikováno v:
American Journal of Medical Genetics. 62:16-22
We report on a distinct pattern of primary central nervous system (CNS) degeneration affecting neuronal survival in the brain and spinal cord in 5 fetuses with fetal akinesia sequence (FAS). This neuropathological pattern is characteristic of a letha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::006dd1d0085c9788ec2b8813f4935827
https://doi.org/10.1002/(sici)1096-8628(19960301)62:1<16::aid-ajmg4>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19960301)62:1<16::aid-ajmg4>3.0.co
Autor:
D. Citadelle, Françoise Chevy, J Pham, N. Mulliez, Martine Kolf-Clauw, Claude Wolf, Charles Roux
Publikováno v:
Journal of Lipid Research, Vol 37, Iss 6, Pp 1325-1333 (1996)
The impaired conversion of 7-dehydrocholesterol to cholesterol, as a result of a permanent inhibition of the activity of 7-dehydrocholesterol-delta 7-reductase, has been reported in the Smith-Lemli-Opitz (SLO) syndrome (1, 2). For the purpose of expe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8974e541ec0879fd590764c8f705f17b
https://doi.org/10.1016/s0022-2275(20)39162-8
https://doi.org/10.1016/s0022-2275(20)39162-8
Publikováno v:
Toxicology in vitro : an international journal published in association with BIBRA. 9(5)
The development and evolution of PKU can be prevented by prescribing an appropriate diet at an early age. A systematic neonatal screening has been set up in most countries. However, young women suffering from PKU give birth to very severely malformed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7b7c8c98bf04559e03029c95ee28f00
https://pubmed.ncbi.nlm.nih.gov/20650141
https://pubmed.ncbi.nlm.nih.gov/20650141
Autor:
Trinh Hermanns-Lê, Laloux F, Lucien Koulischer, Gérald Pierard, Marie Gonzales, N. Mulliez, Alain Verloes
Publikováno v:
American Journal of Medical Genetics. 43:539-547
Restrictive dermopathy is a rare, lethal autosomal recessive syndrome. We report on 3 unrelated affected stillborn infants of consanguineous parents. Clinical findings include a tight, thin, translucent, taut skin, which tears spontaneously in flexio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fca1c3596a2651c9a8a8a4291f688a47
https://doi.org/10.1002/ajmg.1320430308
https://doi.org/10.1002/ajmg.1320430308
Autor:
N. Mulliez, Jean-François Bach, Roger Henrion, Claude Griscelli, Martine Papiernik, Yves Brossard, Christian Bréchot, Alain Goudeau, Francis Barin, Rosemay Vazeux, Joelle Roume
Publikováno v:
Pediatrics. 89:297-301
Pathological abnormalities of the thymus were found in 3 of 37 fetuses aborted from human immunodeficiency virus (HIV)-infected mothers. These lesions were located predominantly in the thymic cortex, which contains mostly immature lymphocytes. Areas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c27945fa7b558629b46c3e226d746694
https://doi.org/10.1542/peds.89.2.297
https://doi.org/10.1542/peds.89.2.297
Autor:
Anne-Lise Delezoide, Férechté Encha-Razavi, Marie Gonzales, G. Migne, Joelle Roume, N. Mulliez, Larroche Jc
Publikováno v:
American Journal of Medical Genetics. 42:44-50
We report on congenital hypothalamic hamartomas, discovered at autopsy in 3 unrelated fetuses. In the first 2 patients, the tumor was associated with skeletal dysplasia only. In the third patient, it was part of a non-random congenital malformation a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9118f4f384e571743106720b1c21dbdd
https://doi.org/10.1002/ajmg.1320420111
https://doi.org/10.1002/ajmg.1320420111