Maladie de Whipple
IRF4 haploinsufficiency in a family with Whipple's disease. Elife, 2018;7:e32340-e32340 Tison A, Preuss P, Leleu C et al. ...
Pathologies en rapport avec une haploinsuffisance du gène SHOX
en) Craig Munns, Ian Glass, SHOX-Related Haploinsufficiency Disorders In GeneTests: Medical Genetics Information Resource ( ...
Lisa Monteggia
Behavioral analysis of SNAP-25 and Synaptobrevin-2 haploinsufficiency in mice. Neurosciences Horvath PM, Monteggia LM (2017) ...
Mouvements en miroir familiaux congénitaux
RAD51 haploinsufficiency causes congenital mirror movements in humans, Am J Hum Genet, 2012;90:301-307 Ahmed I, Mittal K, ...
PTEN
... (phosphatase and tensin homologue gene) haploinsufficiency promotes insulin hypersensitivity » Diabetologia, 2007;50:395- ...
Hypogammaglobulinémie commune d'expression variable
Haploinsufficiency of the NF-κB1 subunit p50 in common variable immunodeficiency, Am J Hum Genet, 2015;97:389-403 Chen K, ...
Jean-Laurent Casanova
Science Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia, 24 mai 2013, Science Mycobacterial ...
STXBP1
Haploinsufficiency of STXBP1 and Ohtahara syndrome, In: Noebels JL, Avoli M, Rogawski MA, Olsen RW, Delgado-Escueta AV, eds. ...
Aniridie
PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans, Nat Genet, 2001;28:214-216 Gregory- ...