Detalhe da pesquisa
1.
De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity.
Am J Hum Genet;
107(4): 753-762, 2020 10 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32910914
2.
De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies.
Brain;
145(5): 1684-1697, 2022 06 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34788397
3.
Mutations in RNU7-1 Weaken Secondary RNA Structure, Induce MCP-1 and CXCL10 in CSF, and Result in Aicardi-Goutières Syndrome with Severe End-Organ Involvement.
J Clin Immunol;
42(5): 962-974, 2022 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35320431
4.
Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.
J Inherit Metab Dis;
44(2): 401-414, 2021 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32677093
5.
Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts.
J Med Genet;
54(6): 432-440, 2017 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28258187
6.
Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity.
Genet Med;
17(6): 460-6, 2015 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25232846
7.
De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation.
Hum Genet;
133(11): 1359-67, 2014 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25037250
8.
PRRT2 mutations: exploring the phenotypical boundaries.
J Neurol Neurosurg Psychiatry;
85(4): 462-5, 2014 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24101679
9.
KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.
Ann Neurol;
71(1): 15-25, 2012 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22275249
10.
Early onset collagen VI myopathies: Genetic and clinical correlations.
Ann Neurol;
68(4): 511-20, 2010 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20976770
11.
Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1.
JAMA Neurol;
75(4): 495-502, 2018 04 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29356829
12.
Encephalocraniocutaneous lipomatosis accompanied by the formation of bone cysts: Harboring clues to pathogenesis?
Am J Med Genet A;
143A(24): 2973-80, 2007 Dec 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-18000896
13.
MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.
Brain;
129(Pt 8): 2093-102, 2006 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-16714318
14.
SPG20 mutation in three siblings with familial hereditary spastic paraplegia.
Cold Spring Harb Mol Case Stud;
3(4)2017 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28679690
15.
Redefining the MED13L syndrome.
Eur J Hum Genet;
23(10): 1308-17, 2015 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25758992
16.
Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations.
Eur J Hum Genet;
22(5): 652-9, 2014 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24105367
17.
Neuromyelitis optica-IgG+ optic neuritis associated with celiac disease and dysgammaglobulinemia: a role for tacrolimus?
Eur J Paediatr Neurol;
15(3): 265-7, 2011 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20937563
18.
Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy.
Ann Neurol;
58(3): 400-10, 2005 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-16130093