التفاصيل البيبلوغرافية
العنوان:
Increasing knowledge in
المؤلفون:
Eloïse, Giabicani , Marjolaine, Willems , Virginie, Steunou , Sandra, Chantot-Bastaraud , Nathalie, Thibaud , Walid, Abi Habib , Salah, Azzi , Bich, Lam , Laurence, Bérard , Hélène, Bony-Trifunovic , Cécile, Brachet , Elise, Brischoux-Boucher , Emmanuelle, Caldagues , Regis, Coutant , Marie-Laure, Cuvelier , Georges, Gelwane , Isabelle, Guemas , Muriel, Houang , Bertrand, Isidor , Claire, Jeandel , James, Lespinasse , Catherine, Naud-Saudreau , Monique, Jesuran-Perelroizen , Laurence, Perrin , Juliette, Piard , Claire, Sechter , Pierre-François, Souchon , Caroline, Storey , Domitille, Thomas , Yves, Le Bouc , Sylvie, Rossignol , Irène, Netchine , Frédéric, Brioude
المصدر:
Journal of medical genetics . 57(3)
سنة النشر:
2019
مصطلحات موضوعية:
Male , Heterozygote , Fetal Growth Retardation , Adolescent , Homozygote , Mutation, Missense , Dwarfism , Receptors, Somatomedin , Polymorphism, Single Nucleotide , Pedigree , Receptor, IGF Type 1 , Fetal Development , Insulin-Like Growth Factor II , Infant, Small for Gestational Age , Microcephaly , Humans , Abnormalities, Multiple , Female , Insulin-Like Growth Factor I , Child , Growth Disorders
الوصف:
The type 1 insulin-like growth factor receptor (IGF1R) is a keystone of fetal growth regulation by mediating the effects of IGF-I and IGF-II. Recently, a cohort of patients carrying anDNA was tested for either deletions or single nucleotide variant (SNV) and the phosphorylation of downstream pathways studied after stimulation with IGF-I by western blot analysis of fibroblast of nine patients.We detected 21We report eight new pathogenic variants of
تدمد:
1468-6244
الوصول الحر:
https://explore.openaire.eu/search/publication?articleId=pmid________::884176ec4ad9bcfb4577ed8a72968606Test https://pubmed.ncbi.nlm.nih.gov/31586944Test
رقم الانضمام:
edsair.pmid..........884176ec4ad9bcfb4577ed8a72968606
قاعدة البيانات:
OpenAIRE
