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1.
Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials.
Clin Genet
; 99(5): 650-661, 2021 05.
Article
in English
| MEDLINE | ID: mdl-33415748
2.
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.
J Med Genet
; 57(7): 466-474, 2020 07.
Article
in English
| MEDLINE | ID: mdl-32277047
3.
Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum.
Genet Med
; 21(5): 1189-1198, 2019 05.
Article
in English
| MEDLINE | ID: mdl-30270358
4.
Insulin response dysregulation explains abnormal fat storage and increased risk of diabetes mellitus type 2 in Cohen Syndrome.
Hum Mol Genet
; 24(23): 6603-13, 2015 Dec 01.
Article
in English
| MEDLINE | ID: mdl-26358774
5.
Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability.
Am J Med Genet A
; 173(1): 62-71, 2017 Jan.
Article
in English
| MEDLINE | ID: mdl-27615324
6.
High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutations.
Europace
; 19(4): 651-659, 2017 Apr 01.
Article
in English
| MEDLINE | ID: mdl-28431061
7.
Zac1 Regulates the Differentiation and Migration of Neocortical Neurons via Pac1.
J Neurosci
; 35(39): 13430-47, 2015 Sep 30.
Article
in English
| MEDLINE | ID: mdl-26424889
8.
CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders.
J Med Genet
; 50(4): 220-7, 2013 Apr.
Article
in English
| MEDLINE | ID: mdl-23378603
9.
Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study).
Eur J Hum Genet
; 2024 May 27.
Article
in English
| MEDLINE | ID: mdl-38802530
10.
Quantification of belatacept by liquid chromatography-tandem mass spectrometry in human plasma: Application to a pharmacokinetic study in renal transplant recipients.
Clin Biochem
; 113: 17-20, 2023 Mar.
Article
in English
| MEDLINE | ID: mdl-36586569
11.
Advancing precision oncology through systematic germline and tumor genetic analysis: The oncogenetic point of view on findings from a prospective multicenter clinical trial of 666 patients.
Cancer Med
; 12(18): 18786-18796, 2023 Sep.
Article
in English
| MEDLINE | ID: mdl-37694493
12.
Patient satisfaction, experience and preferences in the implementation of genetics teleconsultations in the North-eastern region of France.
Eur J Med Genet
; 66(10): 104841, 2023 Oct.
Article
in English
| MEDLINE | ID: mdl-37714374
13.
Forced G1-phase reduction alters mode of division, neuron number, and laminar phenotype in the cerebral cortex.
Proc Natl Acad Sci U S A
; 106(51): 21924-9, 2009 Dec 22.
Article
in English
| MEDLINE | ID: mdl-19959663
14.
Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year.
Pediatr Res
; 69(3): 265-70, 2011 Mar.
Article
in English
| MEDLINE | ID: mdl-21135753
15.
Cardiovascular manifestations in men and women carrying a FBN1 mutation.
Eur Heart J
; 31(18): 2223-9, 2010 Sep.
Article
in English
| MEDLINE | ID: mdl-20709720
16.
Periodontal disorders in a cohort of patients with Cohen syndrome.
Spec Care Dentist
; 41(1): 118-124, 2021 Jan.
Article
in English
| MEDLINE | ID: mdl-33202072
17.
Care management in a French cohort with Down syndrome from the AnDDI-Rares/CNSA study.
Eur J Med Genet
; 64(10): 104290, 2021 Oct.
Article
in English
| MEDLINE | ID: mdl-34274527
18.
Radial Migration Dynamics Is Modulated in a Laminar and Area-Specific Manner During Primate Corticogenesis.
Front Cell Dev Biol
; 8: 588814, 2020.
Article
in English
| MEDLINE | ID: mdl-33178700
19.
Associations between cognitive performance and the rehabilitation, medical care and social support provided to French children with Prader-Willi syndrome.
Eur J Med Genet
; 63(12): 104064, 2020 Dec.
Article
in English
| MEDLINE | ID: mdl-32998064
20.
Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20.
Eur J Hum Genet
; 28(8): 1044-1055, 2020 08.
Article
in English
| MEDLINE | ID: mdl-32071410