Results 11 to 20 of about 10,461 (205)

Diagnosis of Menke-Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs. [PDF]

Mol Genet Genomic Med, 2023
CREBBP missense mutations located at the 3′ end of exon 30 and the 5′ portion of exon 31 induce Menke‐Hennekam syndrome. To date, 35 patients are reported, and all diagnoses were made postnatally. We report the first prenatal diagnosis by whole exome sequencing of Menke‐Hennekam syndrome and further review the prenatal signs by a review of the ...
Cogan G, Bourgon N, Borghese R, Julien E, Jaquette A, Stos B, Achaiaa A, Chuon S, Nitschke P, Fourrage C, Stirnemann J, Boutaud L, Attie-Bitach T.   +12 more
europepmc   +2 more sources

COG6-related prenatal phenotype (CDG2L): Clinico-pathological report and review of the literature. [PDF]

Mol Genet Genomic Med
Abstract Background CDG2L (MIM#614576) is an autosomal recessive multisystemic disorder due to variants in COG6 gene. Postnatal phenotypes are now well described, while prenatal presentations remain poorly investigated. Only 8 of the 28 published patients have had prenatal ultrasound anomalies reported and no one post‐mortem investigation.
Guterman S, Feresin A, Boutaud L, Jacquin C, Lyonnet S, Bernard JP, Colmant C, Roth P, Bourgon N, Mace P, Thoreau A, Ville Y, Bengoa J, Ait Arkoub Z, Fourrage C, Encha-Razavi F, Bessières B, Attié-Bitach T.   +17 more
europepmc   +2 more sources

Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies. [PDF]

Epilepsia Open
Abstract Objective Genetic testing is now included in the diagnostic assessment of childhood onset epilepsies. We evaluated the yield of a targeted next generation sequencing (TNGS) panel dedicated to pediatric epilepsies. Methods We tested by TNGS panel 1000 consecutive patients presenting with childhood onset epilepsies and including mainly patients ...
Barcia G, Chemaly N, Gobin-Limballe S, Losito E, Aubart M, Sarda E, Assouline Z, Plante-Bordeneuve P, Hully M, Barrois R, Barnerias C, Sareidaki D, Zeitoun DC, Eisermann M, Fourrage C, Hanein S, Rio M, Boddaert N, Desguerre I, Kaminska A, Steffann J, Nabbout R.   +21 more
europepmc   +2 more sources

Five small antelope species diets indicate different levels of anthrodependence in the Overberg Renosterveld, South Africa

African Journal of Ecology, Volume 60, Issue 4, Page 917-925, December 2022., 2022
Abstract The Overberg area, Western Cape, South Africa is highly suitable for agricultural practices and has subsequently been severely transformed over the last four centuries. This has created a novel habitat for many wildlife species. The objective of this study was to determine the forage use of five antelope species and thereby assess their level ...
Amauréé Jansen van Vuuren, Hervé Fritz, Jan A. Venter   +2 more
wiley   +1 more source

Effect of high population density of eastern black rhinoceros, a mega‐browser, on the quality of its diet

African Journal of Ecology, Volume 59, Issue 4, Page 826-841, December 2021., 2021
Abstract High density of herbivore populations can lead to intense foraging competition and depletion of food consequently lowering diet quality and population performance. We tested for the effects of the density of eastern black rhinoceros (Diceros bicornis michaeli) in nine in situ populations of 0.01–0.7 individuals per km2 density range on the ...
Benson Okita‐Ouma, Richard Pettifor, Marcus Clauss, Herbert H. T. Prins   +3 more
wiley   +1 more source

Relationships of reproductive performance indicators in black rhinoceros (Diceros bicornis michaeli) with plant available moisture, plant available nutrients and woody cover

African Journal of Ecology, Volume 59, Issue 1, Page 2-16, March 2021., 2021
Abstract Plant available moisture and plant available nutrients in soils influence forage quality and availability and subsequently affect reproductive performance in herbivores. However, the relationship of soil moisture, soil nutrients and woody forage with reproductive performance indicators is not well understood in mega‐browsers yet these three ...
Benson Okita‐Ouma, Frank van Langevelde, Ignas M. A. Heitkönig, Peter Maina, Sip E. van Wieren, Herbert H. T. Prins   +5 more
wiley   +1 more source

Coconception, installation et évaluation de banques fourragères arbustives pour l’alimentation des vaches laitières dans l’ouest du Burkina Faso

Revue d’Elevage et de Médecine Vétérinaire des Pays Tropicaux, 2020
Dans les élevages laitiers de l’ouest du Burkina Faso, la production de lait est limitée par un déficit fourrager en saison sèche. Cette étude visait à évaluer la faisabilité et la potentialité des banques fourragères arbustives (BFA) pour complémenter ...
Ollo Sib, Eliel González-García, Valérie M.C. Bougouma-Yameogo, Mélanie Blanchard, Eric Vall   +4 more
doaj   +1 more source

Variabilité agro-hydrologique des cultures de décrue. Une étude de cas dans la moyenne vallée du fleuve Sénégal

Cahiers Agricultures, 2020
Après l’édification des barrages sur le fleuve Sénégal, l’agriculture irriguée devait progressivement remplacer l’agriculture de décrue dans la moyenne vallée.
Poussin Jean-Christophe, Martin Didier, Bader Jean-Claude, Dia Djiby, Seck Sidy Mohamed, Ogilvie Andrew   +5 more
doaj   +1 more source

Données complémentaires sur les durées de mastication chez des vaches laitières recevant des rations riches en fourrage : influence de la nature du fourrage et du niveau d’apport d’aliment concentré

INRAE Productions Animales, 1993
La durée de mastication des rations est une donnée importante à prendre en compte lorsqu’on rationne des vaches laitières. C’est pourquoi les résultats obtenus pour 26 rations ont été récapitulés et ajoutés à 14 autre déjà publiés.
J.P. DULPHY, J. ROUEL, M. JAILLER, D. SAUVANT   +3 more
doaj   +1 more source

Arrière-effet du Stylosanthes guianensis sur la production et la composition chimique de Brachiaria ruziziensis en Adamaoua, Cameroun

Revue d’Elevage et de Médecine Vétérinaire des Pays Tropicaux, 1994
Des études menées à la station de recherches zootechniques de Wakwa ont montré que la fertilisation minérale améliorait de manière significative la production fourragère des parcours. Cependant, compte tenu du coût, de la faible disponibilité des engrais,
E.T. Pamo, Samuel Yonkeu
doaj   +1 more source