Detalhe da pesquisa
1.
SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling.
Am J Hum Genet
; 108(1): 115-133, 2021 01 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33308444
2.
Growth charts for Marfan syndrome in the Netherlands and analysis of genotype-phenotype relationships.
Am J Med Genet A
; 191(2): 479-489, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36380655
3.
Bi-allelic Loss-of-Function Mutations in the NPR-C Receptor Result in Enhanced Growth and Connective Tissue Abnormalities.
Am J Hum Genet
; 103(2): 288-295, 2018 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30032985
4.
Guideline for referring short or tall children in preventive child health care.
Acta Paediatr
; 110(4): 1231-1238, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33118654
5.
Identification of novel genetic variants associated with short stature in a Baka Pygmies population.
Hum Genet
; 139(11): 1471-1483, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32583022
6.
Long-term BMI and growth profiles in offspring of women with gestational diabetes.
Diabetologia
; 61(5): 1037-1045, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29492638
7.
Growth and BMI during the first 14 y of life in offspring from women with type 1 or type 2 diabetes mellitus.
Pediatr Res
; 81(2): 342-348, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27828938
8.
Vitamin D receptor polymorphisms and growth until adulthood after very premature birth.
J Bone Miner Metab
; 34(5): 564-70, 2016 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26212485
9.
IGSF1 variants in boys with familial delayed puberty.
Eur J Pediatr
; 174(5): 687-92, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25354429
10.
New reference charts for testicular volume in Dutch children and adolescents allow the calculation of standard deviation scores.
Acta Paediatr
; 104(6): e271-8, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25664405
11.
"Proceedings of the 22nd Aschauer Soiree on Growth and Health Screening", held at Altenhof, Germany, November 15th, 2014.
Pediatr Endocrinol Rev
; 12(3): 323-32, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25962211
12.
The effect of early catch-up growth on health and well-being in young adults.
Ann Nutr Metab
; 65(2-3): 220-6, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25413661
13.
Assessment of Nutritional Status in the Diagnostic Evaluation of the Child with Growth Failure.
Horm Res Paediatr
; 97(1): 11-21, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-37054683
14.
Differentiating the roles of STAT5B and STAT5A in human CD4+ T cells.
Clin Immunol
; 148(2): 227-36, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23773921
15.
WNT signaling and cartilage: of mice and men.
Calcif Tissue Int
; 92(5): 399-411, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23212543
16.
Long-acting PEGylated growth hormone in children with idiopathic short stature: time to reconsider our diagnostic and treatment policy?
Eur J Endocrinol
; 188(1)2023 Jan 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36651155
17.
A Novel Pathogenic IGSF1 Variant in a Patient with GH and TSH Deficiency Diagnosed by High IGF-I Values at Transition to Adult Care
J Clin Res Pediatr Endocrinol
; 15(4): 431-437, 2023 11 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-35466665
18.
Atypical STAT5B deficiency, severe short stature and mild immunodeficiency associated with a novel homozygous STAT5B Variant.
Mol Cell Endocrinol
; 559: 111799, 2023 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36265659
19.
Identification of novel genes including NAV2 associated with isolated tall stature.
Front Endocrinol (Lausanne)
; 14: 1258313, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38152138
20.
Apc bridges Wnt/ß-catenin and BMP signaling during osteoblast differentiation of KS483 cells.
Exp Cell Res
; 317(10): 1411-21, 2011 Jun 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-21402068