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Brigitte Mignot

11

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Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome

2020
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Presenting features and molecular genetics of primary hyperparathyroidism in the paediatric population.

2020 European Journal of Endocrinology
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Does the Treatment with Recombinant Human Growth Hormone Improve Final Height in Patients Affected by X-Linked Hypophosphatemia?

2019
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Dental and craniofacial features associated with GNAS loss of function mutations

2019 European Journal of Orthodontics
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Mutations in the DEAH-box RNA Helicase DHX37 are a Frequent Cause of 46,XY Gonadal Dysgenesis and 46,XY Testicular Regression Syndrome

2019
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Mutations in the DEAH-box RNA Helicase DHX37 are a Frequent Cause of 46,XY Gonadal Dysgenesis and 46,XY Testicular Regression Syndrome

2019
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Two-year recombinant human growth hormone (rhGH) treatment is more effective in pre-pubertal compared to pubertal short children with X-linked hypophosphatemic rickets (XLHR)

2017 Growth Hormone & Igf Research
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Contribution of GLI2 Mutations to Pituitary Deficits and Delineation of the Associated Phenotypic Spectrum

2016
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Association of environmental markers with childhood type 1 diabetes mellitus revealed by a long questionnaire on early life exposures and lifestyle in a case–control study

2016 BMC Public Health
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Disruption of a Novel Krüppel-like Transcription Factor p300-regulated Pathway for Insulin Biosynthesis Revealed by Studies of the c.-331 INS Mutation Found in Neonatal Diabetes Mellitus

2011 Journal of Biological Chemistry
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