B. Mignot

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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

Pierre Lecomte, A. J. Valleron, Isabelle Guilhem, 2016, BMC Public Health.

1 Disruption of a Novel KLF-p 300-Regulated Pathway for Insulin Biosynthesis Revealed by Studies of the c .331 INS Mutation Found in Neonatal Diabetes Mellitus

U. Hodoğlugil, R. Scharfmann, P. Froguel, 2011 .

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).

J. Salles, A. Rothenbuhler, A. Linglart, 2017, Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society.

Characteristics of adolescents with chronic poorly controlled type 1 diabetes - A qualitative study.

B. Mignot, A. Ridley, V. Vinel, 2022, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Impaired sexual activity in male adults with partial androgen insensitivity.

C. Bouvattier, P. Bougnères, Y. Morel, 2006, The Journal of clinical endocrinology and metabolism.

Disorders of sex development and Diamond-Blackfan anemia: is there an association?

T. Leblanc, M. Alberer, H. Schwarz, 2010, Pediatric Nephrology.

[The challenge for dermatologists of early APECED diagnosis].

F. Aubin, P. Saugier-Veber, P. Humbert, 2014, Annales de dermatologie et de venereologie.

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

G. Conway, K. McElreavey, S. Nef, 2019, Genetics in Medicine.

Severe sex differentiation disorder in a boy with a 3.8 Mb 10q25.3–q26.12 microdeletion encompassing EMX2

P. Jonveaux, K. McElreavey, V. Rozé, 2014, American journal of medical genetics. Part A.

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

U. Hodoğlugil, R. Scharfmann, P. Froguel, 2011, The Journal of Biological Chemistry.

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

K. Busiah, J. Salles, J. Bacchetta, 2020, European journal of endocrinology.

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

C. Chaussain, A. Rothenbuhler, A. Linglart, 2019, European journal of orthodontics.

Genotype-phenotype description of Vitamin-D Dependent Rickets 1A: CYP27B1 p.(Ala129Thr) variant induces a milder disease.

J. Bacchetta, A. Rothenbuhler, A. Linglart, 2022, The Journal of clinical endocrinology and metabolism.

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

V. Rigalleau, A. Valleron, Jacques Cohen, 2016, bioRxiv.

Growth hormone treatment improves final height in children with X-linked hypophosphatemia

J. Salles, C. Chaussain, A. Rothenbuhler, 2022, Orphanet journal of rare diseases.

Severe sex differentiation disorder in a boy with a 3.8 Mb 10q25.3–q26.12 microdeletion encompassing EMX2

P. Jonveaux, K. McElreavey, V. Rozé, 2014, American journal of medical genetics. Part A.