Detalhe da pesquisa
1.
Sustained OMA1-mediated integrated stress response is beneficial for spastic ataxia type 5.
Brain
; 147(3): 1043-1056, 2024 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37804316
2.
TREX-1 related Aicardi-Goutières syndrome improved by Janus kinase inhibitor.
Am J Med Genet A
; 194(5): e63510, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38135344
3.
Would, early, versus late hydroxocobalamin dose intensification treatment, prevent cognitive decline, macular degeneration and ocular disease, in 5 patients with early-onset cblC deficiency?
Mol Genet Metab
; 140(3): 107681, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37604084
4.
FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects.
Genet Med
; 24(12): 2475-2486, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36197437
5.
Rare pathogenic variants in WNK3 cause X-linked intellectual disability.
Genet Med
; 24(9): 1941-1951, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35678782
6.
Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort study.
Clin Genet
; 102(2): 117-122, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35470444
7.
Adaptive behavior and psychiatric comorbidities in KCNB1 encephalopathy.
Epilepsy Behav
; 126: 108471, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34915430
8.
De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features.
J Med Genet
; 58(10): 712-716, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32820033
9.
Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2.
Genet Med
; 23(7): 1202-1210, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33674768
10.
Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.
Hum Mutat
; 41(1): 69-80, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31513310
11.
Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.
Epilepsia
; 61(11): 2461-2473, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32954514
12.
Autosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-function.
Hum Mutat
; 39(8): 1076-1080, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29782060
13.
Shwachman-Diamond syndrome presenting with early ichthyosis, associated dermal and epidermal intracellular lipid droplets, hypoglycemia, and later distinctive clinical SDS phenotype.
Am J Med Genet A
; 170(7): 1799-805, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27127007
14.
Invasive fungal infection and impaired neutrophil killing in human CARD9 deficiency.
Blood
; 121(13): 2385-92, 2013 Mar 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-23335372
15.
Familial very long chain acyl-CoA dehydrogenase deficiency as a cause of neonatal sudden infant death: improved survival by prompt diagnosis.
Am J Med Genet A
; 167A(1): 211-4, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25338548
16.
Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease.
J Biol Chem
; 287(34): 28975-85, 2012 Aug 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-22700964
17.
Adrenal insufficiency due to high doses of maternal corticosteroid treatment in a premature baby.
BMJ Case Rep
; 15(8)2022 Aug 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35922085
18.
Loss, Gain and Altered Function of GlyR α2 Subunit Mutations in Neurodevelopmental Disorders.
Front Mol Neurosci
; 15: 886729, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35571374
19.
Paroxysmal EEG pattern in a child with N-methyl-D-aspartate receptor antibody encephalitis.
Dev Med Child Neurol
; 53(8): 764-7, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21592117
20.
Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome.
J Med Genet
; 47(3): 155-61, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19833603