Detalhe da pesquisa
1.
Patient with a heterozygous pathogenic variant in CSNK2A1 gene: A new case to update the Okur-Chung neurodevelopmental syndrome.
Am J Med Genet A
; : e63642, 2024 May 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38711237
2.
Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families.
Clin Genet
; 103(3): 346-351, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36371792
3.
Natural History and Phenotypic Spectrum of GAA-FGF14 Sporadic Late-Onset Cerebellar Ataxia (SCA27B).
Mov Disord
; 38(10): 1950-1956, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37470282
4.
uORF-introducing variants in the 5'UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome.
Hum Mutat
; 43(9): 1239-1248, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35446447
5.
Reduced penetrance of an eastern French mutation in ATL1 autosomal-dominant inheritance (SPG3A): extended phenotypic spectrum coupled with brain 18F-FDG PET.
Neurogenetics
; 23(4): 241-255, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35788923
6.
First report of a short in-frame biallelic deletion removing part of the EGF-like domain calcium-binding motif in LTBP4 and causing autosomal recessive cutis laxa type 1C.
Am J Med Genet A
; 188(11): 3343-3349, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35972031
7.
Utility of chromosomal microarray analysis for the exploration of isolated and severe fetal growth restriction diagnosed before 24 weeks' gestation.
Prenat Diagn
; 42(10): 1281-1287, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35426144
8.
Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD.
J Med Genet
; 57(10): 717-724, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32152250
9.
Large fluctuations in multi-scale modeling for rest hematopoiesis.
J Math Biol
; 82(6): 58, 2021 05 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33974123
10.
Toxicity of TiO2 Nanoparticles: Validation of Alternative Models.
Int J Mol Sci
; 21(14)2020 Jul 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32659965
11.
Unraveling the Missing Heritability in Late-Onset Cerebellar Ataxia.
Mov Disord
; 38(6): 957-958, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37157870
12.
Non-GAA Repeat Expansions in FGF14 Are Likely Not Pathogenic-Reply to: "Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and Unaffected Members of a Chilean Family".
Mov Disord
; 38(8): 1575-1577, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37565404
13.
Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth.
Hum Mol Genet
; 22(16): 3306-14, 2013 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23615299
14.
Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletion.
Am J Med Genet A
; 167A(5): 1008-17, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25728055
15.
Environmental co-benefits of health policies to reduce meat consumption: A narrative review.
Health Policy
; 143: 105017, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38503172
16.
Paroxysmal Ataxia: A Characteristic Feature of FGF14 Repeat Expansion (SCA27B).
Neurol Genet
; 10(1): e200118, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38170134
17.
Does Spinocerebellar ataxia 27B mimic cerebellar multiple system atrophy?
J Neurol
; 271(4): 2078-2085, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38263489
18.
Neuroradiological findings in GAA-FGF14 ataxia (SCA27B): more than cerebellar atrophy.
medRxiv
; 2024 May 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38405699
19.
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.
Eur J Hum Genet
; 32(2): 190-199, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37872275
20.
Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions.
EBioMedicine
; 99: 104931, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38150853