Detalhe da pesquisa
1.
Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13-related: Description of 11 further cases.
Clin Genet
; 104(1): 100-106, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37121912
2.
Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2.
Clin Genet
; 99(4): 547-557, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33381861
3.
Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum.
BMC Med Genet
; 19(1): 36, 2018 03 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29506490
4.
First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant.
BMC Med Genet
; 17(1): 97, 2016 Dec 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-27964710
5.
Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review.
Pediatr Neurol
; 155: 8-17, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38569228
6.
DNA methylation profiling at imprinted loci after periconceptional micronutrient supplementation in humans: results of a pilot randomized controlled trial.
FASEB J
; 26(5): 1782-90, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22267336
7.
Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment.
J Clin Med
; 12(15)2023 Jul 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37568403
8.
Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review.
Genes (Basel)
; 14(9)2023 08 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37761804
9.
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays.
Eur J Hum Genet
; 31(10): 1117-1124, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37500725
10.
Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals.
Front Genet
; 13: 652454, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35495150
11.
Novel biallelic variant in BBS9 causative of Bardet-Biedl syndrome: expanding the spectrum of disease-causing genetic alterations.
BMC Med Genomics
; 14(1): 91, 2021 03 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-33771153
12.
New insights into genetic variant spectrum and genotype-phenotype correlations of Rubinstein-Taybi syndrome in 39 CREBBP-positive patients.
Mol Genet Genomic Med
; 7(11): e972, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31566936
13.
Acanthosis nigricans as an adverse effect of highly active antiretroviral therapy in an adolescent girl with human immunodeficiency virus infection.
Pediatr Infect Dis J
; 24(8): 742-3, 2005 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-16094236
14.
Areca-nut abuse and neonatal withdrawal syndrome.
Pediatrics
; 117(1): e129-31, 2006 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-16361222
15.
Cuatro casos de exantema periflexural asimétrico. ¿se diagnostica poco esta entidad clínica? / Four cases of asymmetric periflexural exanthema. An underdiagnosed entity?
Pediatr. catalan
; 65(5): 256-260, sept.-oct. 2005. ilus, tab
Artigo
em Ca
| IBECS (Espanha) | ID: ibc-041191