Éditeur(s) : Paris : Librairie Larousse
Siècle(s) traité(s) : 19
Droits : Domaine public
Provenance : Communauté d'agglomération de La Rochelle. Médiathèque Michel-Crépeau
Permalien : http://www.manioc.org/patrimon/MMC16023-1
MMC16023-1

Éditeur(s) : Apud Frid. Beck apud Frid. Fleischer in comm
Extrait de : Flora brasiliensis : enumeratio plantarum in Brasilia hactenus detectarum quas suis aliorumque botanicorum studiis descriptas et methodo naturali digestas partim icone illustratas
Siècle(s) traité(s) : 19
Droits : Domaine public
Provenance : Université Toulouse III - Paul Sabatier. Service Commun de la Documentation
Permalien : http://www.manioc.org/patrimon/TLS17080
TLS17080

Éditeur(s) : Paris : Desenne, Petit, Le Normand

Provenance : Archives départementales de Guadeloupe
Permalien : http://www.manioc.org/patrimon/ADG18181
ADG18181

Éditeur(s) : HAL CCSD Nature Publishing Group
Résumé : International audience
Treacher Collins/Franceschetti syndrome (TCS; OMIM 154500) is a disorder of craniofacial development belonging to the heterogeneous group of mandibulofacial dysostoses. TCS is classically characterized by bilateral mandibular and malar hypoplasia, downward-slanting palpebral fissures, and microtia. To date, three genes have been identified in TCS:,TCOF1, POLR1D, and POLR1C. We report a clinical and extensive molecular study, including TCOF1, POLR1D, POLR1C, and EFTUD2 genes, in a series of 146 patients with TCS. Phenotype-genotype correlations were investigated for 19 clinical features, between TCOF1 and POLR1D, and the type of mutation or its localization in the TCOF1 gene. We identified 92/146 patients (63%) with a molecular anomaly within TCOF1, 9/146 (6%) within POLR1D, and none within POLR1C. Among the atypical negative patients (with intellectual disability and/or microcephaly), we identified four patients carrying a mutation in EFTUD2 and two patients with 5q32 deletion encompassing TCOF1 and CAMK2A in particular. Congenital cardiac defects occurred more frequently among patients with TCOF1 mutation (7/92, 8%) than reported in the literature. Even though TCOF1 and POLR1D were associated with extreme clinical variability, we found no phenotype-genotype correlation. In cases with a typical phenotype of TCS, 6/146 (4%) remained with an unidentified molecular defect.
ISSN: 1098-3600

hal-01134364
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01134364
DOI : 10.1038/gim.2015.29
PUBMED : 25790162

Éditeur(s) : HAL CCSD Nature Publishing Group
Résumé : International audience
The etiology of congenital heart defect (CHD) combines environmental and genetic factors. So far, there were studies reporting on the screening of a single gene on unselected CHD or on familial cases selected for specific CHD types. Our goal was to systematically screen a proband of familial cases of CHD on a set of genetic tests to evaluate the prevalence of disease-causing variant identification. A systematic screening of GATA4, NKX2-5, ZIC3 and Multiplex ligation-dependent probe amplification (MLPA) P311 Kit was setup on the proband of 154 families with at least two cases of non-syndromic CHD. Additionally, ELN screening was performed on families with supravalvular arterial stenosis. Twenty-two variants were found, but segregation analysis confirmed unambiguously the causality of 16 variants: GATA4 (1 x), NKX2-5 (6 x), ZIC3 (3 x), MLPA (2 x) and ELN (4 x). Therefore, this approach was able to identify the causal variant in 10.4% of familial CHD cases. This study demonstrated the existence of a de novo variant even in familial CHD cases and the impact of CHD variants on adult cardiac condition even in the absence of CHD. This study showed that the systematic screening of genetic factors is useful in familial CHD cases with up to 10.4% elucidated cases. When successful, it drastically improved genetic counseling by discovering unaffected variant carriers who are at risk of transmitting their variant and are also exposed to develop cardiac complications during adulthood thus prompting long-term cardiac follow-up. This study provides an important baseline at dawning of the next-generation sequencing era.
ISSN: 1018-4813

hal-01404211
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01404211
DOI : 10.1038/ejhg.2015.105
PUBMED : 26014430

Éditeur(s) : Paris : Desenne, Petit, Le Normand

Provenance : Archives départementales de Guadeloupe
Permalien : http://www.manioc.org/patrimon/ADG18128
ADG18128

Éditeur(s) : Basse-terre : Imp. Du Roi
Siècle(s) traité(s) : 19
Provenance : Archives départementales de Guadeloupe
Permalien : http://www.manioc.org/patrimon/ADG18146
ADG18146

Éditeur(s) : Cayenne : Imprimerie du gouvernement
Résumé : Année 1872
Siècle(s) traité(s) : 19
Droits : Domaine public
Provenance : Collectivité territoriale de Guyane. Bibliothèque Alexandre-Franconie
Permalien : http://www.manioc.org/patrimon/FRA11268
FRA11268

Éditeur(s) : Paris : Bureaux de la sucrerie indigène et coloniale
Siècle(s) traité(s) : 20
Provenance : Archives départementales de Guadeloupe
Permalien : http://www.manioc.org/patrimon/ADG18110
ADG18110

Éditeur(s) : John Libbey Eurotext ltd
Résumé : The new sustainable development data repository requires new analysis grids, in particular for factors accounted for in productive system typologies. This paper, based on the aquaculture example, analyses the diversity in aquaculture systems with respect to sustainable development. Various typologies are obtained by evaluating structural and functional approaches integrating variables related to production and regulation systems and to the territorial insertion of fish farms. Categories have been defined on a scale based on a set of five sites, which are representative of a wider range of aquaculture systems. Use of these categories goes beyond the local typologies and prepares a generic meta-typology classification for the systems. This generic classification is then compared to the views of sustainable development held by the fish farmers working on the various types of farms.
Cahiers Agricultures (1166-7699) (John Libbey Eurotext ltd), 2009-04 , Vol. 18 , N. 2 , P. 199-210

Droits : 2009 John Libbey Eurotext ltd
http://archimer.ifremer.fr/doc/2009/publication-6560.pdf
DOI:10.1684/agr.2009.0297
http://archimer.ifremer.fr/doc/00000/6560/

Siècle(s) traité(s) : 17
Provenance : Archives départementales de Guadeloupe
Permalien : http://www.manioc.org/patrimon/ADG18237
ADG18237

Éditeur(s) : La Habana : impr. de Spencer y cía
Résumé : Littérature

Droits : Domaine public
Provenance : Institut des Hautes Études de l'Amérique latine, Bibliothèque Pierre-Monbeig
Permalien : http://www.manioc.org/patrimon/IHE14003
IHE14003

Éditeur(s) : Paris : M. Lévy frères
Siècle(s) traité(s) : 19
Droits : Domaine public
Provenance : Université Toulouse 1 Capitole. Service Commun de la Documentation
Permalien : http://www.manioc.org/patrimon/TLS17003
TLS17003

Éditeur(s) : Périgueux : Imprimerie commerciale et administrative
Siècle(s) traité(s) : 18
Droits : Domaine public
Provenance : Ville de Pointe-à-Pitre. Réseau des bibliothèques
Permalien : http://www.manioc.org/patrimon/PAP11057
PAP11057

Éditeur(s) : Basse-Terre : Imprimerie du Gouvernement
Extrait de : Bulletin officiel de la Guadeloupe

Droits : Domaine public
Provenance : Ville de Bordeaux. Bibliothèque municipale
Permalien : http://www.manioc.org/patrimon/BBX19091
BBX19091

Éditeur(s) : Bordeaux : Charles Lawalle
Siècle(s) traité(s) : 19
Droits : Domaine public
Provenance : Archives départementales de Guadeloupe
Permalien : http://www.manioc.org/patrimon/ADG18145
ADG18145

Éditeur(s) : Annecy : Imprimerie L. Dépollier

Droits : Domaine public
Provenance : Université de Nantes. Service commun de la documentation
Permalien : http://www.manioc.org/patrimon/NAN13049
NAN13049

Éditeur(s) : [S.l.] : Imprimerie du Gouvernement
Description : Organisation administrative de différents secteurs publics de la Martinique en 1893 précédée d'une description géographique et historique de l'île.
Siècle(s) traité(s) : 19
Droits : Domaine public
Provenance : Ville de Pointe-à-Pitre. Réseau des bibliothèques
Permalien : http://www.manioc.org/patrimon/HASH2d1c310a7e79daee9f5de1
HASH2d1c310a7e79daee9f5de1