Detalhe da pesquisa
1.
Worldwide Newborn Screening and Early Immunizations: Aligning Advances in Preventive Pediatrics.
J Pediatr;
264: 113732, 2024 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37726086
2.
Newborn screening for congenital hypothyroidism and phenylketonuria-Beyond cost savings.
J Pediatr;
258: 113417, 2023 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37030610
3.
Premature Ovarian Failure in French Canadian Leigh Syndrome.
J Pediatr;
184: 227-229.e1, 2017 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28284481
4.
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.
Am J Hum Genet;
92(5): 725-43, 2013 May 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23643382
5.
Similar age-dependent levothyroxine requirements of schoolchildren with congenital or acquired hypothyroidism.
Eur J Pediatr;
175(6): 869-72, 2016 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26856857
6.
Partnering with parents to disclose Klinefelter syndrome to their child.
Acta Paediatr;
105(5): 456-61, 2016 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26683842
7.
Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies.
BMC Med Genet;
15: 139, 2014 Dec 19.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25524009
8.
FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly.
J Med Genet;
50(9): 585-92, 2013 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23812909
9.
Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism.
Proc Natl Acad Sci U S A;
108(28): 11524-9, 2011 Jul 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21700882
10.
Severe aldosterone synthase deficiency in a nine-day old Lebanese boy: the importance of functional studies to establish pathogenicity of seemingly benign variants in CYP11B2.
Horm Res Paediatr;
2024 Feb 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38316111
11.
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.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23414662
12.
Thyroid function from birth to adolescence in Prader-Willi syndrome.
J Pediatr;
163(3): 800-5, 2013 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23623517
13.
Quality of referral of short children to the paediatric endocrinologist and impact of a fax communication system.
Paediatr Child Health;
18(10): 533-7, 2013 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24497780
14.
Why should orchidopexy be performed in congenital hypogonadotropic hypogonadism, and when?
Horm Res Paediatr;
2023 Apr 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37015215
15.
Thyrotropin Screening of Newborns: Before or After 72 Hours of Life? Before Discharge or at Home?
Thyroid;
33(11): 1311-1317, 2023 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37551988
17.
Leydig cell tumors in children: contrasting clinical, hormonal, anatomical, and molecular characteristics in boys and girls.
J Pediatr;
161(6): 1147-52, 2012 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22727875
18.
Whole-Exome Sequencing in Congenital Hypothyroidism Due to Thyroid Dysgenesis.
Thyroid;
32(5): 486-495, 2022 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35272499
19.
Are guidelines for glucocorticoid coverage in adrenal insufficiency currently followed?
J Pediatr;
158(3): 492-498.e1, 2011 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21035819
20.
Health-related quality of life of young adults with Turner syndrome following a long-term randomized controlled trial of recombinant human growth hormone.
BMC Pediatr;
11: 49, 2011 May 29.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21619701