Detalhe da pesquisa
1.
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.
Am J Hum Genet
; 110(7): 1098-1109, 2023 07 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37301203
2.
ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model.
Am J Hum Genet
; 109(8): 1436-1457, 2022 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35907405
3.
Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly.
Am J Hum Genet
; 109(10): 1909-1922, 2022 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36044892
4.
Circulating tumour cells and PD-L1-positive small extracellular vesicles: the liquid biopsy combination for prognostic information in patients with metastatic non-small cell lung cancer.
Br J Cancer
; 130(1): 63-72, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37973956
5.
Allelic heterogeneity in a patient with postzygotic MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.
Clin Genet
; 105(5): 581-583, 2024 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38379111
6.
YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse.
Genet Med
; 25(7): 100835, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-36999555
7.
A New Presenilin-1 Missense Variant Associated With a Progressive Supranuclear Palsy-like Phenotype.
Alzheimer Dis Assoc Disord
; 37(1): 82-84, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-35383591
8.
Asymmetric crying facies in an elderly, when a facial asymmetry is not a facial paralysis but a marker of possible congenital malformations: case report and review of the literature.
Neurol Sci
; 44(4): 1207-1210, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36456879
9.
High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics.
J Med Genet
; 59(5): 445-452, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34085946
10.
Combining Three Tyrosine Kinase Inhibitors: Drug Monitoring Is the Key.
Int J Mol Sci
; 24(6)2023 Mar 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36982592
11.
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment.
Am J Hum Genet
; 104(4): 721-730, 2019 04 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30929742
12.
Exome sequencing allows detection of relevant pharmacogenetic variants in epileptic patients.
Pharmacogenomics J
; 22(5-6): 258-263, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35590072
13.
Optimal timing of interval debulking surgery for advanced epithelial ovarian cancer: A retrospective study from the ESME national cohort.
Gynecol Oncol
; 167(1): 11-21, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35970603
14.
Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity.
Genet Med
; 23(10): 1901-1911, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34113008
15.
Temporal Trends in the Incidence of Ischemic Stroke in Young Adults: Dijon Stroke Registry.
Neuroepidemiology
; 55(3): 239-244, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34044406
16.
Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications.
Clin Genet
; 98(1): 19-31, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32291752
17.
Long-Term Relative Survival after Stroke: The Dijon Stroke Registry.
Neuroepidemiology
; 54(6): 498-505, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-31865347
18.
Colitis-induced colorectal cancer and intestinal epithelial estrogen receptor beta impact gut microbiota diversity.
Int J Cancer
; 144(12): 3086-3098, 2019 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30515752
19.
A rare double diagnosis identified via exome sequencing in a patient with complex cerebellar ataxia: a case report.
Neurol Sci
; 44(5): 1795-1797, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36604382
20.
Homozygous TRAPPC11 truncating variant revealing segmental uniparental disomy of chromosome 4 as a cause of a recessive limb-girdle muscular dystrophy-18.
Clin Genet
; 100(5): 643-644, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34435357