582 results on '"Touraine Philippe A."'
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2. Position statement on the diagnosis and management of congenital pituitary deficiency in adults: The French National Diagnosis and Treatment Protocol (NDTP)
3. Safety of growth hormone replacement in survivors of cancer and intracranial and pituitary tumours: a consensus statement.
4. Position statement on the diagnosis and management of acromegaly: The French National Diagnosis and Treatment Protocol (NDTP)
5. Differences or Disorders of sex development in Boys: impact on fertility
6. Whole exome sequencing reveals copy number variants in individuals with disorders of sex development
7. Whole exome sequencing in a cohort of familial premature ovarian insufficiency cases reveals a broad array of pathogenic or likely pathogenic variants in 50% of families
8. Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causes
9. Gene variants identified by whole-exome sequencing in 33 French women with premature ovarian insufficiency
10. Increased long QT and torsade de pointes reporting on tamoxifen compared with aromatase inhibitors.
11. Biallelic FANCA variants detected in sisters with isolated premature ovarian insufficiency
12. Biochemical control with dose reduction in chronic glucocorticoid therapy over 4 years: A phase III extension study of Chronocort (Efmody) in the treatment of Congenital Adrenal Hyperplasia (CAH)
13. Long-term outcomes of lentiviral gene therapy for the β-hemoglobinopathies: the HGB-205 trial
14. A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss
15. Lessons from prospective longitudinal follow-up of a French APECED cohort
16. Shifting the landscape: Dominant C‐terminal rare missense FOXL2 variants in non‐syndromic primary ovarian failure etiology
17. A Human Homozygous HELQ Missense Variant Does Not Cause Premature Ovarian Insufficiency in a Mouse Model
18. Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol)
19. Cardiometabolic Aspects of Congenital Adrenal Hyperplasia
20. Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM)
21. Age at diagnosis in patients with chronic congenital endocrine conditions: a regional cohort study from a reference center for rare diseases
22. Very long-term outcomes of pediatric patients treated for optic pathway gliomas: A longitudinal cohort study.
23. Drivers of patient and caregiver preferences for growth hormone deficiency treatments in France: a discrete choice experiment
24. Stratification of the risk of ovarian dysfunction by studying the complexity of intermediate and premutation alleles of the FMR1 gene
25. Complex Association of Sex Hormones on Left Ventricular Systolic Function: Insight into Sexual Dimorphism
26. Identifying patient-related predictors of permanent growth hormone deficiency
27. SAT304 Improved Biochemical Control With Dose Reduction In Chronic Glucocorticoid Therapy: A Phase III Extension Study Of Chronocort (Efmody) In The Treatment Of Congenital Adrenal Hyperplasia (CAH)
28. Identification of 34 novel and 56 known FOXL2 mutations in patients with blepharophimosis syndrome
29. Idiopathic central precocious puberty in a Klinefelter patient: highlights on gonadotropin levels and pathophysiology
30. Effect of congenital adrenal hyperplasia treated by glucocorticoids on plasma metabolome: a machine-learning-based analysis
31. Impact of exenatide on weight loss and eating behavior in adults with craniopharyngioma-related obesity: the CRANIOEXE randomized placebo-controlled trial.
32. Stratification of the risk of ovarian dysfunction by studying the complexity of intermediate and premutation alleles of the FMR1 gene.
33. Paul Kelly, PhD (1943–2018)
34. Switching patients with Congenital Adrenal Hyperplasia to Modified release hydrocortisone capsules: relative bioavailability and disease control
35. Family building after diagnosis of premature ovarian insufficiency - a cross-sectional survey in 324 women
36. Impact of exenatide on weight loss and eating behavior in adults with craniopharyngioma-related obesity: the Cranioexe randomized placebo-controlled trial
37. Un programme d’éducation thérapeutique centré sur la transition des patients, avec endocrinopathie chronique, entre les services d’endocrinologie pédiatrique et adulte
38. Prevalence of and Risk Factors for Anal Oncogenic Human Papillomavirus Infection Among HIV-Infected Women in France in the Combination Antiretroviral Therapy Era
39. Switching patients with Congenital Adrenal Hyperplasia to Modified release hydrocortisone capsules: relative bioavailability and disease control
40. Fertility and Pregnancy in Patients With 21-Hydroxylase Deficiency
41. Management of Adult Patients With Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
42. Hyperandrogénie d'origine ovarienne
43. Surgery Is Not Superior to Dilation for the Management of Vaginal Agenesis in Mayer-Rokitansky-Küster-Hauser Syndrome: A Multicenter Comparative Observational Study in 131 Patients
44. Assessment of Puberty and Hypothalamic–Pituitary–Gonadal Axis Function After Childhood Brain Tumor Treatment
45. Gynecologic follow up of 129 women on dialysis and after kidney transplantation: a retrospective cohort study
46. Self-perceived health status of patients with adrenal insufficiency receiving glucocorticoid replacement therapy – French data from a worldwide patient survey
47. Modified-release hydrocortisone is associated with lower plasma renin activity in patients with salt-wasting congenital adrenal hyperplasia
48. Parental project in 324 patients with premature ovarian failure
49. Normal-high IGF-1 level improves pregnancy rate after ovarian stimulation in women treated with growth hormone replacement therapy
50. The genetic diagnosis of rare endocrine disorders of sex development and maturation: a survey among Endo-ERN centres
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