Detalhe da pesquisa
1.
Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort.
Cardiol Young
; 32(3): 364-373, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-34420548
2.
Management of COVID-19 infection in organic acidemias.
Am J Med Genet A
; 185(6): 1854-1857, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33686767
3.
Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease.
Genet Med
; 21(11): 2543-2551, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31086307
4.
Can Functional Polymorphisms in VEGF and MMP Predict Intraventricular Hemorrhage in Extremely Preterm Newborns?
Dev Neurosci
; 40(4): 337-343, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30391947
5.
Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study.
Genet Med
; 20(10): 1284-1294, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29565424
6.
Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.
Hum Mol Genet
; 29(6): 1054, 2020 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32016392
7.
Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.
Hum Mol Genet
; 22(5): 1026-38, 2013 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23221805
8.
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
N Engl J Med
; 367(14): 1321-31, 2012 Oct 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-22970919
9.
Premature pubarche in children with Pompe disease.
J Pediatr
; 166(4): 1075-8.e1, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25687635
10.
Thrombotic risk in congenital erythrocytosis due to up-regulated hypoxia sensing is not associated with elevated hematocrit.
Haematologica
; 105(3): e87-e90, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31289208
11.
Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.
Am J Hum Genet
; 87(6): 905-14, 2010 Dec 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-21129721
12.
Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy.
Nat Genet
; 32(2): 267-72, 2002 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-12244316
13.
Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia.
Nat Genet
; 32(4): 614-21, 2002 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-12415268
14.
Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.
Nat Genet
; 30(2): 215-20, 2002 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-11799392
15.
Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.
Hum Mutat
; 33(3): 457-66, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22213154
16.
Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management.
J Pediatr
; 182: 363-370, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27939258
17.
Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay.
Am J Med Genet A
; 158A(2): 391-9, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22190277
18.
Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort.
J Neuromuscul Dis
; 9(6): 713-730, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36214004
19.
Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis.
Hum Genet
; 129(3): 319-27, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21153841
20.
Biallelic Variants in LAMB1 Causing Hydranencephaly: A Severe Phenotype of a Rare Malformative Encephalopathy.
AJP Rep
; 11(1): e26-e28, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-33542858