C. Bellané-Chantelot

Glucocorticoid-Induced Hyperinsulinism in a Preterm Neonate with Inherited ABCC8 Variant

B. Portha, C. Saint-Martin, Emmanuelle Motte-Signoret, 2022, Metabolites.

Severe congenital neutropenia with a novel ELANE mutation in 2 Mexican patients.

A. Olaya-Vargas, M. Pérez-García, M. Yamazaki-Nakashimada, 2014, Journal of investigational allergology & clinical immunology.

Myoclonic absence epilepsy with photosensitivity and a gain of function mutation in glutamate dehydrogenase

N. Boddaert, O. Dulac, F. Escande, 2008, Seizure.

Predisposing gene for early-onset prostate cancer, localized on chromosome 1q42.2-43.

W. Vogel, O. Cussenot, A. Valéri, 1998, American journal of human genetics.

The spectrum of systemic involvement in adults presenting with renal lesion and mitochondrial tRNA(Leu) gene mutation.

P. Rustin, A. Rötig, G. Choukroun, 2003, Journal of the American Society of Nephrology : JASN.

Heterogeneity of persistent hyperinsulinaemic hypoglycaemia. A series of 175 cases

C. Junien, C. Sempoux, F. Brunelle, 2001, European Journal of Pediatrics.

Hyperinsulinemic hypoglycemia in children.

C. Junien, C. Sempoux, F. Brunelle, 2004, Annales d'endocrinologie.

A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR gene.

E. Haan, J. Weissenbach, D. Paslier, 1994, Human molecular genetics.