Zobrazeno 1 - 10
of 107
pro vyhledávání: '"B de Martinville"'
Autor:
S Depret-Mosser, B Occelli, A Dognin, M Bertrand, Monnier Jc, B de Martinville, Codaccioni X, E Lambaudie, T. Papageorgiou
Publikováno v:
Gynécologie Obstétrique & Fertilité. 30:567-575
Resume Objectifs – Etablir une conduite a tenir concernant la prise en charge obstetrico-cardiologique des patientes enceintes porteuses d’une maladie de Marfan. Patientes et methodes – Il s’agit d’une etude retrospective qui nous a permis
Autor:
Samir S. Deeb, Johan Auwerx, Jamila Najib, Laurent Gelman, S Geffroy, P Roevens, B de Martinville, Jean-Charles Fruchart, G Martin, Masami Nemoto
Publikováno v:
Genomics. 66:296-304
Uptake of fatty acids into cells is a controlled process in part regulated by fatty acid transport proteins (FATPs), which facilitate the transport of fatty acids across the cell membrane. In this study the structure of the human FATP-1 (HGMW-approve
Autor:
M Cartigny, N. Kacet, Sylvie Manouvrier-Hanu, Lequien P, R. Besson, Louise Devisme, C Jeanpierre, L. Storme, L Cousin, B. De Martinville
Publikováno v:
Journal of Medical Genetics. 37:315-318
Editor—True agonadism, characterised by the absence of gonads in both XY and XX patients, is a rare, mostly sporadic, and isolated condition. Its association with diaphragmatic hernia seems to be extremely rare and has always been described associa
Autor:
B. de Martinville, Anne Janin, H Bergoend, Emmanuel Delaporte, M.C. Copin, V. Blondel, Frédéric Piette
Publikováno v:
Dermatology. 192:70-72
This report describes a 3-year-old boy who presented with skin lesions characterized by multiple streaks of hyperpigmentation following Blaschko's lines since 6 weeks of age. The clinical features are consistent with the diagnosis of linear and whorl
Autor:
E, Lambaudie, S, Depret-Mosser, B, Occelli, T, Papageorgiou, A, Dognin, M, Bertrand, B, de Martinville, X, Codaccioni, J C, Monnier
Publikováno v:
Gynecologie, obstetriquefertilite. 30(7-8)
To create a follow-up protocol for pregnant patients with Marfan syndrome.We retrospectively reviewed the charts of patients who delivered in the Jeanne de Flandre University Hospital between June 1996 and June 1999. Four pregnant patients with Marfa
Autor:
L, Brun, P, Dufour, J B, Savary, A S, Valat, O, Boute, D, Subtil, P, Vaast, P, Bourgeot, S, Manouvrier, B, de Martinville, F, Puech
Publikováno v:
Presse medicale (Paris, France : 1983). 29(38)
We describe the different ultrasound findings suggestive of trisomy 18.We conducted a retrospective study in 40 cases of trisomy 18 diagnosed in the department of obstetrics at the Lille University Hospital between 1988 and 1998.Eighty percent of the
Autor:
S, Vanderstichele, J B, Savary, P, Dufour, J, Berard, N, Tordjeman, D, Vinatier, J C, Monnier, B, de Martinville
Publikováno v:
Journal de gynecologie, obstetrique et biologie de la reproduction. 26(6)
The prenatal diagnosis of trisomy for the distal half of the short arm of n(o) 9 chromosome (partial trisomy 9p) has been realized from a morphologic ultrasound. A genetic investigation has permitted to establish that this trisomy was due to a bad se
Autor:
A. Sillaire, Arnaud Lacour, Patrick Vermersch, B. De Martinville, T. Stojkovic, Hélène Zéphir
Publikováno v:
Revue Neurologique. 163:105
Introduction La maladie de Tangier ou hypoalphalipoproteinemie familiale est une affection rare, autosomique recessive, secondaire a une mutation du gene ABC1 entrainant un deficit en lipoproteine de haute densite (HDL) plasmatique. Observation N° 0
Publikováno v:
Genomics. 28:603-604
Keywords: Chromosomes ; Human ; Pair 7 Reference NCEM-ARTICLE-1995-006doi:10.1006/geno.1995.1201View record in PubMed Record created on 2009-04-02, modified on 2017-05-12
Autor:
B de Martinville, J. M. Lalouel, J. Trowsdale, David C. Page, J. E. Brissenden, Uta Francke, David Botstein
Publikováno v:
Genetic Epidemiology. 3:231-239
Hybridization of probe pDP151 (locus D15S2) to genomic human DNAs digested with EcoRI revealed allelic restriction fragments 9 and 11 kilobase-pairs (kb) in length. Hybridization of pDP151 to EcoRI-digested DNAs from 21 Chinese hamster X human hybrid