S. Beaufils

发表

Clinical Spectrum Associated with Hepatocyte Nuclear Factor-1 Mutations

Christine Bellann-Chantelot, D. Chauveau, J. Gautier, 2004, Annals of Internal Medicine.

Mapping the whole human genome by fingerprinting yeast artificial chromosomes

D. Paslier, D. Ward, E. Barillot, 1992, Cell.

Anomalies of the TCF2 gene are the main cause of fetal bilateral hyperechogenic kidneys.

J. Schanstra, C. Bellanné-Chantelot, S. Beaufils, 2007, Journal of the American Society of Nephrology : JASN.

The clinical variability of maternally inherited diabetes and deafness is associated with the degree of heteroplasmy in blood leukocytes.

H. Gin, G. Charpentier, P. Massin, 2009, The Journal of clinical endocrinology and metabolism.

Renal phenotypes related to hepatocyte nuclear factor-1beta (TCF2) mutations in a pediatric cohort.

C. Bellanné-Chantelot, S. Beaufils, G. Deschênes, 2006, Journal of the American Society of Nephrology : JASN.

Register neutropenia: A study of 81 patients from the French Neutropenia Mutations in the ELA2 gene correlate with more severe expression of

T. Leblanc, C. Bellanné-Chantelot, S. Beaufils, 2013 .

Familial young‐onset forms of diabetes related to HNF4A and rare HNF1A molecular aetiologies

C. Bellanné-Chantelot, D. Dubois-Laforgue, S. Clauin, 2010, Diabetic medicine : a journal of the British Diabetic Association.

Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood.

P. Calvas, N. Chassaing, K. Dahan, 2011, Kidney international.

Neurological findings and genetic alterations in patients with Kostmann syndrome and HAX1 mutations

C. Bellanné-Chantelot, S. Beaufils, J. Donadieu, 2014, Pediatric blood & cancer.

Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome

T. Leblanc, C. Bellanné-Chantelot, S. Beaufils, 2012, Haematologica.

Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register.

Fernando Rodrigues-Lima, Mohamed Barkaoui, Christine Chomienne, 2004, Blood.

Search for DNA sequence variations using a MutS-based technology.

J. Dausset, S. Lesage, D. Cohen, 1997, Mutation research.