Candace Bensignor
Dijon, 21000, France
Last Updated: 09/26/2026
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Found 11 publications
Digenic Inheritance Mode in Congenital Hypothyroidism Due to Thyroid Dysgenesis: HYPOTYGEN Translational Cohort Study.
Journal: The Journal of clinical endocrinology and metabolism
Published: October 19, 2024
Endocrine management of transgender adolescents: Expert consensus of the french society of pediatric endocrinology and diabetology working group.
Journal: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
Published: August 02, 2024
CpG methylation changes associated with hyperglycemia in type 1 diabetes occur at angiogenic glomerular and retinal gene loci.
Journal: Scientific reports
Published: June 05, 2024
Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene.
Journal: Clinical genetics
Published: September 06, 2023
Young XLH Patients-Reported Experience with a Supportive Care Program.
Journal: Patient preference and adherence
Published: September 23, 2022
Growth pattern in children with X-linked hypophosphatemia treated with burosumab and growth hormone.
Growth pattern in children with X-linked hypophosphatemia treated with burosumab and growth hormone.
Journal: Orphanet journal of rare diseases
Published: May 31, 2022
The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing.
Journal: The Journal of clinical endocrinology and metabolism
Published: April 12, 2022
Additional Tunisian patients with Sanjad-Sakati syndrome: A review toward a consensus on diagnostic criteria.
Journal: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
Published: July 22, 2018
Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature.
Journal: European journal of human genetics : EJHG
Published: March 13, 2016
Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis.
Journal: Clinical genetics
Published: February 08, 2016
6q16.3q23.3 duplication associated with Prader-Willi-like syndrome.
Journal: Molecular cytogenetics
Published: April 24, 2015
Showing 1-11 of 11
Last Updated: 09/26/2026