Detalhe da pesquisa
1.
Delayed diagnosis of congenital hypopituitarism associated with low socio-economic status and/or migration.
Eur J Pediatr
; 179(1): 151-155, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31691850
2.
Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations.
Hum Mutat
; 40(11): 2033-2043, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31231873
3.
Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences.
J Med Genet
; 55(3): 205-213, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29223973
4.
Complex tissue-specific epigenotypes in Russell-Silver Syndrome associated with 11p15 ICR1 hypomethylation.
Hum Mutat
; 35(10): 1211-20, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25044976
5.
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
6.
Fertility and sexual activity in patients with Triple A syndrome.
Front Endocrinol (Lausanne)
; 15: 1357084, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38544685
7.
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
8.
Growth response of syndromic versus non-syndromic children born small for gestational age (SGA) to growth hormone therapy: a Belgian study.
Front Endocrinol (Lausanne)
; 14: 1112938, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37334282
9.
Efficacy and safety of a 4-year combination therapy of growth hormone and gonadotropin-releasing hormone analogue in pubertal girls with short predicted adult height.
Front Endocrinol (Lausanne)
; 14: 1113750, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37008942
10.
Central precocious puberty after interpersonal transfer of testosterone gel: just a coincidence?
J Pediatr Endocrinol Metab
; 25(7-8): 757-60, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23155706
11.
Six Novel Variants in the MKRN3 Gene Causing Central Precocious Puberty.
J Endocr Soc
; 7(1): bvac168, 2022 Nov 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36438546
12.
Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci.
Hum Mol Genet
; 18(24): 4724-33, 2009 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19755383
13.
IGF1 haploinsufficiency in children with short stature: a case series.
Eur J Endocrinol
; 185(2): 323-332, 2021 Jul 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34125705
14.
The Retina in Patients With Triple A Syndrome: A Window Into Neurodegeneration?
Front Endocrinol (Lausanne)
; 12: 729056, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34867779
15.
Consensus Recommendations for the Diagnosis and Management of X-Linked Hypophosphatemia in Belgium.
Front Endocrinol (Lausanne)
; 12: 641543, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33815294
16.
Corrigendum: Consensus Recommendations for the Diagnosis and Management of X-Linked Hypophosphatemia in Belgium.
Front Endocrinol (Lausanne)
; 12: 686401, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34113319
17.
Congenital Hypothyroidism: A 2020-2021 Consensus Guidelines Update-An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology.
Thyroid
; 31(3): 387-419, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33272083
18.
Homozygous p.R31H GNRH1 mutation and normosmic congenital hypogonadotropic hypogonadism in a patient and self-limited delayed puberty in his relatives.
J Pediatr Endocrinol Metab
; 33(9): 1237-1240, 2020 Sep 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-32813678
19.
A novel approach in the intraoperative management of ovotesticular DSD.
J Pediatr Urol
; 16(6): 768-770, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33268315
20.
DNA Methylation Profiling and Genomic Analysis in 20 Children with Short Stature Who Were Born Small for Gestational Age.
J Clin Endocrinol Metab
; 105(12)2020 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32685970