Detalhe da pesquisa
1.
Genetic profile of Brazilian patients with LAMA2-related dystrophies.
Clin Genet
; 2024 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38747280
2.
Aseptic meningitis in Fabry disease due to a novel GLA variant: an expanded phenotype?
Neurol Sci
; 44(1): 319-327, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36094773
3.
Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach.
Mol Genet Metab
; 137(1-2): 114-126, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36027720
4.
Defining dysmorphic facial features in congenital Zika syndrome.
Am J Med Genet A
; 185(2): 424-433, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33215846
5.
Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease: Insights from the largest cohort in the world.
J Paediatr Child Health
; 57(4): 519-525, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33377563
6.
Continuous epileptiform discharges during sleep as an evolutionary pattern in patients with congenital Zika virus syndrome.
Epilepsia
; 61(9): e107-e115, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32820832
7.
Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings.
J Neurol Neurosurg Psychiatry
; 94(5): 405-408, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36737246
8.
Hydrocephalus associated to congenital Zika syndrome: does shunting improve clinical features?
Childs Nerv Syst
; 34(1): 101-106, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29086073
9.
Lingual Frenulum Phenotypes in Brazilian Infants With Congenital Zika Syndrome.
Cleft Palate Craniofac J
; 55(10): 1391-1398, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29613837
10.
The phenotypic spectrum of congenital Zika syndrome.
Am J Med Genet A
; 173(4): 841-857, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28328129
11.
Health and Development at Age 19-24 Months of 19 Children Who Were Born with Microcephaly and Laboratory Evidence of Congenital Zika Virus Infection During the 2015 Zika Virus Outbreak - Brazil, 2017.
MMWR Morb Mortal Wkly Rep
; 66(49): 1347-1351, 2017 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29240727
12.
De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy.
J Med Genet
; 53(12): 850-858, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27358180
13.
Epilepsy Profile in Infants with Congenital Zika Virus Infection.
N Engl J Med
; 379(9): 891-892, 2018 08 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-30157396
14.
Possible Association Between Zika Virus Infection and Microcephaly - Brazil, 2015.
MMWR Morb Mortal Wkly Rep
; 65(3): 59-62, 2016 Jan 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-26820244
15.
Description of 13 Infants Born During October 2015-January 2016 With Congenital Zika Virus Infection Without Microcephaly at Birth - Brazil.
MMWR Morb Mortal Wkly Rep
; 65(47): 1343-1348, 2016 Dec 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27906905
16.
Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family.
J Med Genet
; 52(2): 123-7, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25527630
17.
A needle in a haystack? The impact of a targeted epilepsy gene panel in the identification of a treatable but rapidly progressive metabolic epilepsy: CLN2 disease.
Arq Neuropsiquiatr
; 82(5): 1-8, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38763144
18.
Consensus from the Brazilian Academy of Neurology for the diagnosis, genetic counseling, and use of disease-modifying therapies in 5q spinal muscular atrophy.
Arq Neuropsiquiatr
; 82(1): 1-18, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38316428
19.
Classic and Atypical Late Infantile Neuronal Ceroid Lipofuscinosis in Latin America: Clinical and Genetic Aspects, and Treatment Outcome with Cerliponase Alfa.
Mol Genet Metab Rep
; 38: 101060, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38469103
20.
Reply to the letter by Joob and Wiwanitkit regarding our article on congenital Zika syndrome and hydrocephalus.
Childs Nerv Syst
; 34(2): 185-186, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29209886