Detalhe da pesquisa
1.
A TRANSCRIPTOMIC APPRECIATION OF CHILDHOOD MENINGOCOCCAL AND POLYMICROBIAL SEPSIS FROM A PRO-INFLAMMATORY AND TRAJECTORIAL PERSPECTIVE, A ROLE FOR VASCULAR ENDOTHELIAL GROWTH FACTOR A AND B MODULATION?
Shock
; 60(4): 503-516, 2023 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37553892
2.
Assessment of childhood obesity in secondary care: OSCA consensus statement.
Arch Dis Child Educ Pract Ed
; 97(3): 98-105, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22611124
3.
Timing of Puberty, Pubertal Growth, and Adult Height in Short Children Born Small for Gestational Age Treated With Growth Hormone.
J Clin Endocrinol Metab
; 107(8): 2286-2295, 2022 07 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35521800
4.
Management of growth failure and other endocrine aspects in patients with Noonan syndrome across Europe: A sub-analysis of a European clinical practice survey.
Eur J Med Genet
; 65(1): 104404, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34896604
5.
Management of cardiac aspects in children with Noonan syndrome - results from a European clinical practice survey among paediatric cardiologists.
Eur J Med Genet
; 65(1): 104372, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34757052
6.
European Medical Education Initiative on Noonan syndrome: A clinical practice survey assessing the diagnosis and clinical management of individuals with Noonan syndrome across Europe.
Eur J Med Genet
; 65(1): 104371, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34757053
7.
Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss.
Hum Mol Genet
; 17(14): 2150-9, 2008 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18407919
8.
Using referral rates for genetic testing to determine the incidence of a rare disease: The minimal incidence of congenital hyperinsulinism in the UK is 1 in 28,389.
PLoS One
; 15(2): e0228417, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32027664
9.
Unravelling the genetic causes of mosaic islet morphology in congenital hyperinsulinism.
J Pathol Clin Res
; 6(1): 12-16, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31577849
10.
Increases in Bioactive IGF do not Parallel Increases in Total IGF-I During Growth Hormone Treatment of Children Born SGA.
J Clin Endocrinol Metab
; 105(4)2020 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31665326
11.
Carboxyl-terminal mutations in 3beta-hydroxysteroid dehydrogenase type II cause severe salt-wasting congenital adrenal hyperplasia.
J Clin Endocrinol Metab
; 93(4): 1418-25, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18252794
12.
Response to Letter to the Editor From Arroyo et al: "Timing of Puberty, Pubertal Growth, and Adult Height in Short Children Born Small for Gestational Age Treated With Growth Hormone".
J Clin Endocrinol Metab
; 108(10): e1161, 2023 09 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-37097735
13.
The exon3-deleted growth hormone receptor gene polymorphism (d3-GHR) is associated with insulin and spontaneous growth in short SGA children (NESGAS).
Growth Horm IGF Res
; 35: 45-51, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28719834
14.
Mycoplasma respiratory tract infection complicated by Stevens-Johnson syndrome and surgical emphysema.
Acta Paediatr
; 96(3): 472, 2007 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-17407485