Detalhe da pesquisa
1.
Neurological phenotype of Potocki-Lupski syndrome.
Am J Med Genet A
; 182(10): 2317-2324, 2020 10.
Artigo
Inglês
| MEDLINE | ID: mdl-33043631
2.
Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability.
Am J Hum Genet
; 98(2): 363-72, 2016 Feb 04.
Artigo
Inglês
| MEDLINE | ID: mdl-26833329
3.
Cortical Myoclonus and Complex Paroxysmal Dyskinesias in a Patient with NAA15 Variant.
Mov Disord
; 2024 Apr 21.
Artigo
Inglês
| MEDLINE | ID: mdl-38643413
4.
22q13.33 duplication involving SHANK3 gene: a boy and his mother with "persistent" language and speech sound disorder.
Psychiatr Genet
; 34(1): 19-23, 2024 Feb 01.
Artigo
Inglês
| MEDLINE | ID: mdl-38084626
5.
Generation of iPSCs from identical twin, one affected by LHON and one unaffected, both carrying a combination of two mitochondrial variants: m.14484 T>C and m.10680G>A.
Stem Cell Res
; 77: 103406, 2024 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-38552355
6.
Frequency of NFKBIA deletions is low in glioblastomas and skewed in glioblastoma neurospheres.
Mol Cancer
; 12: 160, 2013 Dec 11.
Artigo
Inglês
| MEDLINE | ID: mdl-24330732
7.
An autoinflammatory neurological disease due to interleukin 6 hypersecretion.
J Neuroinflammation
; 10: 29, 2013 Feb 21.
Artigo
Inglês
| MEDLINE | ID: mdl-23432807
8.
Case report: A novel pathogenic FRMD7 variant in a Turner syndrome patient with familial idiopathic infantile nystagmus.
Front Neurol
; 14: 1199095, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-37545716
9.
Rhythmic cortical myoclonus in patients with 6Q22.1 deletion.
Eur J Paediatr Neurol
; 44: 25-27, 2023 May.
Artigo
Inglês
| MEDLINE | ID: mdl-36990055
10.
Generation of two human iPSC lines, FINCBi002-A and FINCBi003-A, carrying heteroplasmic macrodeletion of mitochondrial DNA causing Pearson's syndrome.
Stem Cell Res
; 50: 102151, 2021 Jan 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33434818
11.
The relevance of mitochondrial DNA variants fluctuation during reprogramming and neuronal differentiation of human iPSCs.
Stem Cell Reports
; 16(8): 1953-1967, 2021 08 10.
Artigo
Inglês
| MEDLINE | ID: mdl-34329598
12.
Severe Phenotype in a Patient With Homozygous 15q21.2 Microdeletion Involving BCL2L10, GNB5, and MYO5C Genes, Resembling Infantile Developmental Disorder With Cardiac Arrhythmias (IDDCA).
Front Genet
; 11: 399, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-32477400
13.
Generation of a human iPSC line, FINCBi001-A, carrying a homoplasmic m.G3460A mutation in MT-ND1 associated with Leber's Hereditary optic Neuropathy (LHON).
Stem Cell Res
; 48: 101939, 2020 10.
Artigo
Inglês
| MEDLINE | ID: mdl-32771908
14.
Production and post-surgical modification of VEGF, tPA and PAI-1 in patients with glioma.
Cancer Biol Ther
; 5(2): 204-9, 2006 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-16357523
15.
The Diagnostic Yield of Array Comparative Genomic Hybridization Is High Regardless of Severity of Intellectual Disability/Developmental Delay in Children.
J Child Neurol
; 31(6): 691-9, 2016 May.
Artigo
Inglês
| MEDLINE | ID: mdl-26511719
16.
Genetic and plasma markers of venous thromboembolism in patients with high grade glioma.
Clin Cancer Res
; 10(4): 1312-7, 2004 Feb 15.
Artigo
Inglês
| MEDLINE | ID: mdl-14977830
17.
IL-1 genes in myasthenia gravis: IL-1A -889 polymorphism associated with sex and age of disease onset.
J Neuroimmunol
; 122(1-2): 94-9, 2002 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-11777547
18.
5p13 microduplication syndrome: a new case and better clinical definition of the syndrome.
Eur J Med Genet
; 56(1): 54-8, 2013 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-23085304
19.
MEF2C deletions and mutations versus duplications: a clinical comparison.
Eur J Med Genet
; 56(5): 260-5, 2013 May.
Artigo
Inglês
| MEDLINE | ID: mdl-23402836
20.
A new function of microtubule-associated protein tau: involvement in chromosome stability.
Cell Cycle
; 7(12): 1788-94, 2008 Jun 15.
Artigo
Inglês
| MEDLINE | ID: mdl-18583940