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16p11.2 Locus modulates response to satiety before the onset of obesity

Autor: Ana B. Fagundo, Bertrand Isidor, Anu Reigo, Sandra Martin-Brevet, Daniela Dremmel, Anne M. Maillard, Andres Metspalu, Loyse Hippolyte, Alexandre Reymond, Borja Rodriguez-Herreros, C Le Caignec, Zaida Agüera, Jacques S. Beckmann, Aurélie Pain, Fernando Fernández-Aranda, Bogdan Draganski, Susana Jiménez-Murcia, Katrin Männik, M. van den Bree, Boris Keren, Anthony S. David, R Etienne, Susanne Kurz, Sébastien Jacquemont, Samuel J.R.A. Chawner, Anja Hilbert, Simone Munsch, Cyril Mignot

Publikováno v: International journal of obesity (2005)
Recercat. Dipósit de la Recerca de Catalunya
instname
Dipòsit Digital de la UB
Universidad de Barcelona
International Journal of Obesity

Background: \ud \ud The 600 kb BP4-BP5 copy number variants (CNVs) at the 16p11.2 locus have been associated with a range of neurodevelopmental conditions including autism spectrum disorders and schizophrenia. The number of genomic copies in this reg

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b903505f6e42e38dfca74cee5ecc8c8c
http://www.nature.com/ijo/journal/v40/n5/pdf/ijo2015247a.pdf

Split hand/foot malformation with long-bone deficiency andBHLHA9duplication: report of 13 new families

Autor: C Le Caignec, Pierre-Simon Jouk, Fabienne Escande, Nicole Porchet, Anne-Sophie Jourdain, Joris Andrieux, Philippe Loget, Sylvie Manouvrier-Hanu, Brigitte Gilbert-Dussardier, Muriel Holder-Espinasse, Laurence Faivre, Claire Beneteau, Florence Petit, Geneviève Baujat, Albert David, Clarisse Baumann, Dominique Gaillard, Laurent Pasquier

Publikováno v: Clinical Genetics. 85:464-469

Split hand/foot malformation (SHFM) with long-bone deficiency (SHFLD, MIM#119100) is a rare condition characterized by SHFM associated with long-bone malformation usually involving the tibia. Previous published data reported several unrelated patient

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::cb0aff0278bb01ecea9c6fbae582c566
https://doi.org/10.1111/cge.12219

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Congenital skin pedicles with or without amniotic band sequence: Extending the human phenotype resembling mouse disorganization

Autor: Bertrand Isidor, Annick Toutain, C Le Caignec, Olivier Pichon, Dominique Martin-Coignard, Albert David, Geneviève Baujat

Publikováno v: American Journal of Medical Genetics Part A. :1734-1739

Congenital skin pedicles are very rare and usually described in association with multiple congenital anomalies. Here, we report on six patients with congenital pedicle skin hamartomatous lesions. Two patients showed a single skin pedicle lesion, one

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0b18a9531a68ac5e666f1f7443d3d2d
https://doi.org/10.1002/ajmg.a.32796