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115 results on '"Salles, Jean Pierre"'

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1. Differential DNA methylation in iPSC-derived dopaminergic neurons: a step forward on the role of SNORD116 microdeletion in the pathophysiology of addictive behavior in Prader-Willi syndrome

2. Plasma p-tau181 as an outcome and predictor of multidomain intervention effects: a secondary analysis of a randomised, controlled, dementia prevention trial

3. Adult Height Improved Over Decades in Patients with X-Linked Hypophosphatemia: a cohort study

4. THU165 PROPEL, PROPEL 2 And PROPEL OLE Studies Of Infigratinib In Children With Achondroplasia: Design And Status Of 3 Ongoing Trials

5. OR27-03 Oral Infigratinib Treatment Is Well Tolerated And Significantly Increases Height Velocity In Children With Achondroplasia: Month 6 Results From The PROPEL 2 Dose-finding Study

6. THU181 Evaluation Of Bone Mineral Density In A Cohort Of Children With ACH Participating In The PROPEL 2 Study Of Infigratinib

9. PSAT105 Evaluation of Body Mass Index and Metabolic Parameters in Children with Achondroplasia Participating in the PROPEL Study

10. Obesity, Overweight, and Pituitary Stalk Interruption Syndrome in Children and Young Adults

12. X-linked hypophosphatemia, obesity and arterial hypertension: data from the XLH21 study

13. Diagnostic yield of bone fragility gene panel sequencing in children and young adults referred for idiopathic primary osteoporosis at a single regional reference centre

14. Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies

15. WNT11, a new gene associated with early onset osteoporosis, is required for osteoblastogenesis

16. Prenatal features and neonatal management of severe hyperparathyroidism caused by the heterozygous inactivating calcium-sensing receptor variant, Arg185Gln: A case report and review of the literature

17. Low bone mass in Noonan syndrome children correlates with decreased muscle mass and low IGF-1 levels

21. SNORD116 and growth hormone therapy impact IGFBP7 in Prader–Willi syndrome

25. Prader-Willi Syndrome as a Model of Human Hyperphagia

26. SHP2 drives inflammation-triggered insulin resistance by reshaping tissue macrophage populations

27. A standard set of outcome measures for the comprehensive assessment of osteogenesis imperfecta

29. Utility of genetic testing for prenatal presentations of hypophosphatasia

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

31. A Standard Set of Outcome Measures for the Comprehensive Assessment of Osteogenesis Imperfecta.

33. Ghrelin uses the GHS-R1a/Gi/cAMP pathway and induces differentiation only in mature osteoblasts. This ghrelin pathway is impaired in AIS patients

34. Glycerophosphodiesterase 3 (GDE3) is a lysophosphatidylinositol-specific ectophospholipase C acting as an endocannabinoid signaling switch

35. Meal-related difficulties and weight loss in older people: Longitudinal data from MAPT study

37. The type 1 lysophosphatidic acid receptor is involved in osteoblastogenesis up to osteocytogenesis

39. Expression of the type 1 lysophosphatidic acid receptor in osteoblastic cell lineage controls both bone mineralization and osteocyte specification

40. A Standard Set of Outcome Measures for the Comprehensive Assessment of Osteogenesis Imperfecta.

41. Demographic Characteristics, Risk Factors, and Presenting Features of Children with Symptomatic Nutritional Rickets: A French Series

42. Gene expression signatures predict response to therapy with growth hormone

43. Noonan syndrome males display Sertoli cell-specific primary testicular insufficiency

44. Red blood cell membrane omega-3 fatty acid levels and physical performance: Cross-sectional data from the MAPT study

45. Endospanin-2 enhances skeletal muscle energy metabolism and running endurance capacity

47. Noonan syndrome-causing SHP2 mutants impair ERK-dependent chondrocyte differentiation during endochondral bone growth

49. Effect of long-term omega 3 polyunsaturated fatty acid supplementation with or without multidomain intervention on cognitive function in elderly adults with memory complaints (MAPT): a randomised, placebo-controlled trial

50. The Use of Oxytocin to Improve Feeding and Social Skills in Infants With Prader–Willi Syndrome

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