Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Kalotina Machinis"'
Autor:
A. Keller, Elena P. Shavrikova, Werner F. Blum, Roland Pfaeffle, Heike Stobbe, Kalotina Machinis, Serge Amselem
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 91:4171-4174
Context: A variant of the human GH receptor (GHR) lacks a 22-amino-acid sequence derived from exon 3 (d3-GHR). It was reported that pediatric patients, born small for gestational age or with idiopathic short stature who were homozygous or heterozygou
Autor:
Katia Mage, Annie Elbez, Kira Apse, Martine Sinico, Serge Amselem, Claude Danan, Jason Neal, Jean-Claude Janaud, Volney L. Sheen, Kalotina Machinis, Marion Gérard-Blanluet, Lanto Ratsimbazafy, Christopher A. Walsh, Pierre Brugières, Férechté Encha-Razavi
Publikováno v:
American Journal of Medical Genetics Part A. :1041-1046
We report on the case of dizygotic twin boys, born prematurely to an asymptomatic mother. Bilateral periventricular heterotopias with enlarged ventricles were discovered at birth in both twins. One of the twins died prematurely of bronchopulmonary co
Autor:
Marie-Laure Sobrier, Olivier Camand, Juliane Léger, Paul Czernichow, Florence Dastot-Le Moal, Irene Netchine, Serge Amselem, Philippe Duquesnoy, Jacques Pantel, Marc Abitbol, Kalotina Machinis
Publikováno v:
The American Journal of Human Genetics. 69(5):961-968
Studies of genetically engineered flies and mice have revealed the role that orthologs of the human LIM homeobox LHX4 have in the control of motor-neuron–identity assignment and in pituitary development. Remarkably, these mouse strains, which bear
Publikováno v:
Journal of Microbiological Methods. 44:139-148
The goal of this study was to develop a method allowing rapid identification of the lactic acid bacteria strains in use in the laboratory (Lactobacillus plantarum NCIMB8826; L. fermentum KLD; L. reuteri 100-23; L. salivarius UCC43321; L. paracasei Lb
Autor:
Serge Amselem, Philippe Duquesnoy, Kalotina Machinis, Michel Goossens, Jacques Pantel, Marie-Laure Sobrier
Publikováno v:
The Journal of biological chemistry. 275(25)
In humans, growth hormone receptor (GHR) transcripts exist in two isoforms differing by the retention (GHRfl) or exclusion (GHRd3) of exon 3, whereas in mice GHRfl is solely expressed. This species-specific expression pattern is believed to result fr