Detalhe da pesquisa
1.
Comparability of different Z-score equations for aortic root dimensions in children with Marfan syndrome.
Cardiol Young
; 31(12): 1962-1968, 2021 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-33843540
2.
Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disability.
J Biol Chem
; 292(30): 12621-12631, 2017 07 28.
Artigo
Inglês
| MEDLINE | ID: mdl-28584052
3.
A dominant-negative GFI1B mutation in the gray platelet syndrome.
N Engl J Med
; 370(3): 245-53, 2014 Jan 16.
Artigo
Inglês
| MEDLINE | ID: mdl-24325358
4.
Type A Aortic Dissection in a 24-Year-Old Patient With Kabuki Syndrome.
JACC Case Rep
; 29(1): 102149, 2024 Jan 03.
Artigo
Inglês
| MEDLINE | ID: mdl-38223266
5.
Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients.
Circ Genom Precis Med
; : e003978, 2024 Apr 16.
Artigo
Inglês
| MEDLINE | ID: mdl-38623759
6.
Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study.
Lancet Oncol
; 12(1): 49-55, 2011 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-21145788
7.
Effects of naproxen and sulphasalazine or methotrexate on hypothalamic-pituitary-adrenal axis activity in patients with rheumatoid arthritis.
Clin Exp Rheumatol
; 29(1): 35-42, 2011.
Artigo
Inglês
| MEDLINE | ID: mdl-21345290
8.
Systematic review: diagnostic procedures to differentiate unilateral from bilateral adrenal abnormality in primary aldosteronism.
Ann Intern Med
; 151(5): 329-37, 2009 Sep 01.
Artigo
Inglês
| MEDLINE | ID: mdl-19721021
9.
Morphological abnormalities in children with thyroidal congenital hypothyroidism.
Am J Med Genet A
; 149A(5): 943-51, 2009 May.
Artigo
Inglês
| MEDLINE | ID: mdl-19367618
10.
Effect of naproxen on the hypothalamic-pituitary-adrenal axis in healthy volunteers.
Br J Clin Pharmacol
; 67(1): 22-8, 2009 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-19133058
11.
Germline and somatic mosaicism in a family with multiple endocrine neoplasia type 1 (MEN1) syndrome.
Eur J Endocrinol
; 180(2): K15-K19, 2019 Feb 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30481156
12.
Loss of integrity of thyroid morphology and function in children born to mothers with inadequately treated Graves' disease.
J Clin Endocrinol Metab
; 92(8): 2984-91, 2007 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-17504907
13.
Neonatal screening for congenital hypothyroidism in the Netherlands: cognitive and motor outcome at 10 years of age.
J Clin Endocrinol Metab
; 92(3): 919-24, 2007 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-17164300
14.
Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism.
N Engl J Med
; 347(2): 95-102, 2002 Jul 11.
Artigo
Inglês
| MEDLINE | ID: mdl-12110737
15.
Trisomy 21 causes persistent congenital hypothyroidism presumably of thyroidal origin.
Thyroid
; 16(7): 671-80, 2006 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-16889491
16.
Central congenital hypothyroidism due to gestational hyperthyroidism: detection where prevention failed.
J Clin Endocrinol Metab
; 88(12): 5851-7, 2003 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-14671180
17.
[Neonatal screening for congenital hypothyroidism: more than 30 years of experience in the Netherlands]. / Neonatale screening op congenitale hypothyreoïdie: ruim 30 jaar ervaring in Nederland.
Ned Tijdschr Geneeskd
; 158: A6564, 2014.
Artigo
Holandês
| MEDLINE | ID: mdl-25248730
18.
Evaluation of cognitive and motor development in toddlers with congenital hypothyroidism diagnosed by neonatal screening.
J Dev Behav Pediatr
; 33(8): 633-40, 2012 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-23027136
19.
Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm.
Nat Genet
; 44(8): 922-7, 2012 Jul 08.
Artigo
Inglês
| MEDLINE | ID: mdl-22772368
20.
Dynamics of the plasma concentrations of TSH, FT4 and T3 following thyroxine supplementation in congenital hypothyroidism.
Clin Endocrinol (Oxf)
; 57(4): 529-37, 2002 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-12354136