Detalhe da pesquisa
1.
Retraction Note: Pluripotency of mesenchymal stem cells derived from adult marrow.
Nature
; 2024 Jun 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38886620
2.
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.
Genet Med
; 24(11): 2351-2366, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36083290
3.
ßIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy.
Am J Hum Genet
; 102(6): 1158-1168, 2018 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29861105
4.
Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila.
Am J Hum Genet
; 102(1): 44-57, 2018 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29276004
5.
Mitochondrial Dysfunction: A Common Denominator in Neurodevelopmental Disorders?
Dev Neurosci
; 43(3-4): 222-229, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34350863
6.
Understanding the phenotypic spectrum of ASXL-related disease: Ten cases and a review of the literature.
Am J Med Genet A
; 185(6): 1700-1711, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33751773
7.
A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity.
Neurogenetics
; 20(3): 129-143, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31041561
8.
Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy.
Am J Hum Genet
; 98(4): 772-81, 2016 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27040692
9.
GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers.
Am J Hum Genet
; 99(4): 802-816, 2016 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27616483
10.
Homozygous boricua TBCK mutation causes neurodegeneration and aberrant autophagy.
Ann Neurol
; 83(1): 153-165, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29283439
11.
De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.
Hum Genet
; 137(5): 375-388, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-29740699
12.
Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma.
Am J Med Genet A
; 176(12): 2710-2719, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30450772
13.
Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.
Am J Med Genet A
; 176(4): 925-935, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29436146
14.
De novo GABRG2 mutations associated with epileptic encephalopathies.
Brain
; 140(1): 49-67, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27864268
15.
Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup.
Proc Natl Acad Sci U S A
; 110(9): 3453-8, 2013 Feb 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-23401503
16.
IMPDH2 filaments protect from neurodegeneration in AMPD2 deficiency.
bioRxiv
; 2024 Jan 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38328116
17.
Focal cortical dysplasia is more common in boys than in girls.
Epilepsy Behav
; 27(1): 121-3, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23416281
18.
Expanding genotype-phenotype correlations in FOXG1 syndrome: results from a patient registry.
Orphanet J Rare Dis
; 18(1): 149, 2023 06 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37308910
19.
Heterozygous Nonsense Variants in the Ferritin Heavy Chain Gene FTH1 Cause a Novel Pediatric Neuroferritinopathy.
medRxiv
; 2023 Jan 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-36778397
20.
Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy.
HGG Adv
; 4(4): 100236, 2023 Oct 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37660254