Detalhe da pesquisa
1.
Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes.
Hum Mol Genet
; 32(3): 473-488, 2023 01 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36018820
2.
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome.
J Med Genet
; 60(9): 885-893, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36788019
3.
Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness.
Clin Genet
; 104(5): 528-541, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37455656
4.
Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome.
Brain
; 145(10): 3383-3390, 2022 10 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35737950
5.
Refining of the electroclinical phenotype in familial and sporadic cases of CSNK2B-related Neurodevelopmental Syndrome.
Epilepsy Behav
; 147: 109436, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37717460
6.
Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study.
J Med Genet
; 59(4): 399-409, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34085948
7.
Clinical variability at the mild end of BRAT1-related spectrum: Evidence from two families with genotype-phenotype discordance.
Hum Mutat
; 43(1): 67-73, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34747546
8.
Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.
Am J Hum Genet
; 101(4): 552-563, 2017 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28965847
9.
Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome.
Nephrol Dial Transplant
; 35(7): 1195-1202, 2020 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30403813
10.
A novel IRF2BPL truncating variant is associated with endolysosomal storage.
Mol Biol Rep
; 47(1): 711-714, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31583567
11.
Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2.
Brain
; 142(10): 2965-2978, 2019 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31412107
12.
A novel PMCA3 mutation in an ataxic patient with hypomorphic phosphomannomutase 2 (PMM2) heterozygote mutations: Biochemical characterization of the pump defect.
Biochim Biophys Acta Mol Basis Dis
; 1863(12): 3303-3312, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28807751
13.
Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.
Eur Radiol
; 27(12): 5080-5092, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28677066
14.
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.
J Med Genet
; 53(9): 608-15, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27208211
15.
Very mild features of dysequilibrium syndrome associated with a novel VLDLR missense mutation.
Neurogenetics
; 17(3): 191-5, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27251579
16.
Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?
Hum Genet
; 134(1): 123-6, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25407461
17.
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium.
Hum Mutat
; 35(1): 137-46, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24166846
18.
Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome.
Diagnostics (Basel)
; 14(6)2024 Mar 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38535015
19.
Erratum to: Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.
Eur Radiol
; 27(12): 5093, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28900662
20.
MED13 mutation: A novel cause of developmental and epileptic encephalopathy with infantile spasms.
Seizure
; 101: 211-217, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-36087421