Detalhe da pesquisa
1.
Pubertal origin of growth retardation in inborn errors of protein metabolism: A longitudinal cohort study.
Mol Genet Metab
; 141(3): 108123, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38219674
2.
Height and body mass index in molecularly confirmed Silver-Russell syndrome and the long-term effects of growth hormone treatment.
Clin Endocrinol (Oxf)
; 97(3): 284-292, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35261046
3.
DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.
Am J Hum Genet
; 103(6): 1038-1044, 2018 12 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30503519
4.
Insights from the genetic characterization of central precocious puberty associated with multiple anomalies.
Hum Reprod
; 36(2): 506-518, 2021 01 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33313884
5.
Increasing knowledge in IGF1R defects: lessons from 35 new patients.
J Med Genet
; 57(3): 160-168, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31586944
6.
Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes.
Genet Res (Camb)
; 101: e3, 2019 03 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30829192
7.
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
8.
Structural and sequence variants in patients with Silver-Russell syndrome or similar features-Curation of a disease database.
Hum Mutat
; 39(3): 345-364, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29250858
9.
Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature.
Hum Mutat
; 39(6): 790-805, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29637653
10.
Genetic disruption of the oncogenic HMGA2-PLAG1-IGF2 pathway causes fetal growth restriction.
Genet Med
; 20(2): 250-258, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28796236
11.
Effect of Cyproheptadine on Weight and Growth Velocity in Children With Silver-Russell Syndrome.
J Pediatr Gastroenterol Nutr
; 66(2): 306-311, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28806298
12.
Corpus Callosum Abnormalities and Short Femurs in Beckwith-Wiedemann Syndrome: A Report of Two Fetal Cases.
Fetal Pediatr Pathol
; 37(6): 411-417, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30595068
13.
11p15 ICR1 Partial Deletions Associated with IGF2/H19 DMR Hypomethylation and Silver-Russell Syndrome.
Hum Mutat
; 38(1): 105-111, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27701793
14.
Germline correction of an epimutation related to Silver-Russell syndrome.
Hum Mol Genet
; 24(12): 3314-21, 2015 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25736213
15.
The Importance of Collaboration in Advancing Understanding of Rare Disorders: US/EU Joint Initiative on Silver-Russell Syndrome.
Pediatr Endocrinol Rev
; 15(Suppl 1): 98-101, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-29292872
16.
Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann syndrome.
Hum Mol Genet
; 23(21): 5763-73, 2014 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24916376
17.
New clinical and molecular insights into Silver-Russell syndrome.
Curr Opin Pediatr
; 28(4): 529-35, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27386972
18.
A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome.
J Med Genet
; 52(7): 446-53, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25951829
19.
Exhaustive methylation analysis revealed uneven profiles of methylation at IGF2/ICR1/H19 11p15 loci in Russell Silver syndrome.
J Med Genet
; 52(1): 53-60, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25395389
20.
Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization.
Hum Mutat
; 36(9): 894-902, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26077438