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1.
De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity.
Genet Med
; 26(5): 101087, 2024 May.
Article
in English
| MEDLINE | ID: mdl-38288683
2.
Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B.
J Med Genet
; 60(2): 183-192, 2023 02.
Article
in English
| MEDLINE | ID: mdl-35393335
3.
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.
J Med Genet
; 59(6): 559-567, 2022 06.
Article
in English
| MEDLINE | ID: mdl-33820833
4.
Prenatal Alcohol Exposure Impairs the Placenta-Cortex Transcriptomic Signature, Leading to Dysregulation of Angiogenic Pathways.
Int J Mol Sci
; 24(17)2023 Aug 30.
Article
in English
| MEDLINE | ID: mdl-37686296
5.
De novo mutations of SCN1A are responsible for arthrogryposis broadening the SCN1A-related phenotypes.
J Med Genet
; 58(11): 737-742, 2021 11.
Article
in English
| MEDLINE | ID: mdl-32928894
6.
An improved assay for detection of theranostic gene translocations and MET exon 14 skipping in thoracic oncology.
Lab Invest
; 101(5): 648-660, 2021 05.
Article
in English
| MEDLINE | ID: mdl-33495574
7.
Impact of intertendinous connections between the flexor digitorum brevis and longus on percutaneous tenotomy for the treatment of claw toes: an anatomic and ultrasound study.
Surg Radiol Anat
; 43(7): 1067-1073, 2021 Jul.
Article
in English
| MEDLINE | ID: mdl-33661354
8.
[RNAseq in routine oncology]. / Le RNAseq en oncologie de routine.
Ann Pathol
; 41(5): 463-469, 2021 Sep.
Article
in French
| MEDLINE | ID: mdl-34376297
9.
In utero alcohol exposure exacerbates endothelial protease activity from pial microvessels and impairs GABA interneuron positioning.
Neurobiol Dis
; 145: 105074, 2020 11.
Article
in English
| MEDLINE | ID: mdl-32890773
10.
Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita.
Am J Hum Genet
; 100(4): 659-665, 2017 Apr 06.
Article
in English
| MEDLINE | ID: mdl-28318499
11.
[Low-grade dural extranodal marginal zone lymphoma]. / Lymphome de la zone marginale localisé à la dure-mère.
Ann Pathol
; 40(3): 243-247, 2020 Jun.
Article
in French
| MEDLINE | ID: mdl-31948699
12.
Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis.
Am J Hum Genet
; 99(4): 928-933, 2016 Oct 06.
Article
in English
| MEDLINE | ID: mdl-27616481
13.
A new optimization strategy for MALDI FTICR MS tissue analysis for untargeted metabolomics using experimental design and data modeling.
Anal Bioanal Chem
; 411(17): 3891-3903, 2019 Jul.
Article
in English
| MEDLINE | ID: mdl-31093699
14.
Early platelet variation during concomitant chemo-radiotherapy predicts adjuvant temozolomide-induced thrombocytopenia in newly diagnosed glioblastoma patients.
Support Care Cancer
; 27(2): 477-484, 2019 Feb.
Article
in English
| MEDLINE | ID: mdl-29978325
15.
Stereotactic brain biopsy: evaluation of robot-assisted procedure in 60 patients.
Acta Neurochir (Wien)
; 161(3): 545-552, 2019 03.
Article
in English
| MEDLINE | ID: mdl-30675655
16.
Ligation-dependent RT-PCR: a new specific and low-cost technique to detect ALK, ROS, and RET rearrangements in lung adenocarcinoma.
Lab Invest
; 98(3): 371-379, 2018 03.
Article
in English
| MEDLINE | ID: mdl-29251734
17.
Spinal meningioma and factors predictive of post-operative deterioration.
J Neurooncol
; 140(1): 49-54, 2018 Oct.
Article
in English
| MEDLINE | ID: mdl-29926318
18.
Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease.
Alzheimers Dement
; 14(12): 1632-1639, 2018 12.
Article
in English
| MEDLINE | ID: mdl-30114415
19.
Autopsy findings in EPG5-related Vici syndrome with antenatal onset.
Am J Med Genet A
; 173(9): 2522-2527, 2017 Sep.
Article
in English
| MEDLINE | ID: mdl-28748650
20.
[A mysterious pleural lesion: A case report]. / Une mystérieuse lésion pleurale : observation anatomoclinique.
Ann Pathol
; 37(3): 266-269, 2017 Jun.
Article
in French
| MEDLINE | ID: mdl-28532973