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1.
Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders.
J Med Genet
; 55(5): 316-321, 2018 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-29599419
2.
Genetic variations at the human growth hormone receptor (GHR) gene locus are associated with idiopathic short stature.
J Cell Mol Med
; 21(11): 2985-2999, 2017 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-28557176
3.
Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome.
Hum Mutat
; 35(11): 1285-9, 2014 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-25130867
4.
Pituitary blastoma: a pathognomonic feature of germ-line DICER1 mutations.
Acta Neuropathol
; 128(1): 111-22, 2014 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-24839956
5.
Management of phaeochromocytoma and paraganglioma in patients with germline SDHB pathogenic variants: an international expert Consensus statement.
Nat Rev Endocrinol
; 20(3): 168-184, 2024 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-38097671
6.
Abnormal motor cortex excitability is associated with reduced cortical thickness in X monosomy.
Hum Brain Mapp
; 34(4): 936-44, 2013 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-22102524
7.
A search for variables predicting cortisol response to low-dose corticotropin stimulation following supraphysiological doses of glucocorticoids.
J Pediatr
; 163(2): 484-8, 2013 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-23414662
8.
Challenges in the care of individuals with severe primary insulin-like growth factor-I deficiency (SPIGFD): an international, multi-stakeholder perspective.
Orphanet J Rare Dis
; 18(1): 312, 2023 10 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-37805563
9.
Intranasal Carbetocin Reduces Hyperphagia, Anxiousness, and Distress in Prader-Willi Syndrome: CARE-PWS Phase 3 Trial.
J Clin Endocrinol Metab
; 108(7): 1696-1708, 2023 06 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-36633570
10.
Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder.
Am J Med Genet A
; 158A(11): 2733-42, 2012 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-23023959
11.
The Efficacy, Safety, and Pharmacology of a Ghrelin O-Acyltransferase Inhibitor for the Treatment of Prader-Willi Syndrome.
J Clin Endocrinol Metab
; 107(6): e2373-e2380, 2022 05 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-35213714
12.
Efficacy and Safety of Weekly Somatrogon vs Daily Somatropin in Children With Growth Hormone Deficiency: A Phase 3 Study.
J Clin Endocrinol Metab
; 107(7): e2717-e2728, 2022 06 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-35405011
13.
Insulin-like Growth Factor 1, but Not Insulin-Like Growth Factor-Binding Protein 3, Predicts Central Precocious Puberty in Girls 6-8 Years Old: A Retrospective Study.
Horm Res Paediatr
; 94(1-2): 44-51, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34098553
14.
Clinical Outcomes and Complications of Pituitary Blastoma.
J Clin Endocrinol Metab
; 106(2): 351-363, 2021 01 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-33236116
15.
Response to: does IARS2 deficiency cause an intrinsic disorder of bone development (skeletal dysplasia) or are the reported skeletal changes secondary to growth hormone deficiency and neuromuscular involvement?
Hum Mutat
; 36(3): 389, 2015 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-25771765
16.
Safety Outcomes During Pediatric GH Therapy: Final Results From the Prospective GeNeSIS Observational Program.
J Clin Endocrinol Metab
; 104(2): 379-389, 2019 02 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30219920
17.
Diagnosis, Genetics, and Therapy of Short Stature in Children: A Growth Hormone Research Society International Perspective.
Horm Res Paediatr
; 92(1): 1-14, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-31514194
18.
50 years ago in the Journal of Pediatrics: autoimmune disorders of endocrine glands.
J Pediatr
; 163(6): 1669, 2013 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-24274204
19.
Safety Outcomes and Near-Adult Height Gain of Growth Hormone-Treated Children with SHOX Deficiency: Data from an Observational Study and a Clinical Trial.
Horm Res Paediatr
; 87(1): 42-50, 2017.
Artículo
en Inglés
| MEDLINE | ID: mdl-28002818
20.
Genomic imprinting in Turner syndrome: effects on response to growth hormone and on risk of sensorineural hearing loss.
J Clin Endocrinol Metab
; 91(8): 3002-10, 2006 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-16757526