40 results on '"Joustra, Sjoerd D."'
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2. Assessment of Nutritional Status in the Diagnostic Evaluation of the Child with Growth Failure.
3. Assessment of Nutritional Status in the Diagnostic Evaluation of the Child with Growth Failure
4. A Novel Pathogenic IGSF1 Variant in a Patient with GH and TSH Deficiency Diagnosed by High IGF-I Values at Transition to Adult Care.
5. Quality of life in patients with adrenal insufficiency correlates stronger with hydrocortisone dosage, than with long-term systemic cortisol levels
6. Long-acting PEGylated growth hormone in children with idiopathic short stature: time to reconsider our diagnostic and treatment policy?
7. A Novel Pathogenic IGSF1 Variant in a Patient with GH and TSH Deficiency Diagnosed by High IGF-I Values at Transition to Adult Care
8. IGSF1 variants in boys with familial delayed puberty
9. Case Report: A Detailed Phenotypic Description of Patients and Relatives with Combined Central Hypothyroidism and Growth Hormone Deficiency Carrying IGSF1 Mutations
10. Ways to Improve the Diagnosis of Growth Hormone Deficiency
11. IGSF1 Does Not Regulate Spermatogenesis or Modify FSH Synthesis in Response to Inhibins or Activins
12. Differential Diagnosis of the Short IGF-I-Deficient Child with Apparently Normal Growth Hormone Secretion
13. The IGSF1 Deficiency Syndrome May Present with Normal Free T4 Levels, Severe Obesity, or Premature Testicular Growth
14. Patients Previously Treated for Nonfunctioning Pituitary Macroadenomas Have Disturbed Sleep Characteristics, Circadian Movement Rhythm, and Subjective Sleep Quality
15. Response to Letter to the Editor: “IGSF1 Deficiency Results in Human and Murine Somatotrope Neurosecretory Hyperfunction”
16. IGSF1 Deficiency Results in Human and Murine Somatotrope Neurosecretory Hyperfunction
17. The IGSF1 Deficiency Syndrome May Present with Normal Free T4 Levels, Severe Obesity, or Premature Testicular Growth.
18. Novel Clinical Criteria Allow Detection of Short Stature Homeobox-Containing Gene Haploinsufficiency Caused by Either Gene or Enhancer Region Defects
19. From Consternation to Revelation: Discovery of a Role for IGSF1 in Pituitary Control of Thyroid Function
20. Male IGSF1 deficient humans and mice exhibit somatotroph neurosecretory hyperfunction
21. Delayed Adrenarche May Be an Additional Feature of IGSF1 Deficiency Syndrome
22. The short mRNA isoform of the immunoglobulin superfamily, member 1 gene encodes an intracellular glycoprotein
23. TRH Action Is Impaired in Pituitaries of Male IGSF1-Deficient Mice
24. Mutations in TBL1X Are Associated With Central Hypothyroidism
25. New reference charts for testicular volume in Dutch children and adolescents allow the calculation of standard deviation scores
26. IGSF1 Deficiency Results in Human and Murine Somatotrope Neurosecretory Hyperfunction
27. High prevalence of metabolic syndrome features in patients previously treated for non-functioning pituitary macroadenoma
28. Pituitary Hormone Secretion Profiles in IGSF1 Deficiency Syndrome
29. Spatial and temporal expression of immunoglobulin superfamily member 1 in the rat
30. New reference charts for testicular volume in Dutch children and adolescents allow the calculation of standard deviation scores
31. IGSF1 variants in boys with familial delayed puberty
32. High Prevalence of Metabolic Syndrome Features in Patients Previously Treated for Nonfunctioning Pituitary Macroadenoma
33. IGSF1 deficiency syndrome
34. Pituitary Hormone Secretion Profiles in IGSF1 Deficiency Syndrome.
35. Mutations in TBL1XAre Associated With Central Hypothyroidism
36. Alterations in Diurnal Rhythmicity in Patients Treated for Nonfunctioning Pituitary Macroadenoma; A Controlled Study and Literature Review
37. IGF1 Haploinsufficiency: Phenotype and Response to Growth Hormone Treatment in 9 Patients.
38. Characterization of HMGA2 variants expands the spectrum of Silver-Russell syndrome.
39. [A child with inexplicable alteration of consciousness].
40. IGSF1 deficiency syndrome: A newly uncovered endocrinopathy.
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