M. Guipponi

Discipline

Psychologie (2) Anthropologie biologique (2) Science politique (1) Philosophie (1) Economies et finances (1)

Type de document

Articles (16)

Co-auteur

Date

Source

Mot-clé

Human beings (10) gène (8) protéine (6) mutation (6) analyse (6) ADN (6) Phenotype (6) Evidence (6) DNA (6) Cells (6) Analysis (6) Mutation (6) Development (5) Genes (5) Mice (5) famille (4) Twins (4) Families (4) Animals (4) Family (4) mutant (3) perte (3) Genetic regulation (3) Gene expression (3) Example (3) Down syndrome (3) Disabilities (3) roman (3) logiciel (2) association (2)

Documents écrit par M. Guipponi (16) | parle de M. Guipponi (0)

Single cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalance.
G. Stamoulis et al. (3 oct. 2019)
Biallelic variants in KIF14 cause intellectual disability with microcephaly.
P. Makrythanasis et al.
No evidence for the presence of genetic variants predisposing to psychotic disorders on the non-deleted 22q11.2 allele of VCFS patients
M. Guipponi et al. (2017)
Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders
F. A. Santoni et al. (2016)
Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree
P. Makrythanasis et al. (2016)
Galanin pathogenic mutations in temporal lobe epilepsy.
M. Guipponi et al. (2015)
DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins
M. R. Sailani et al. (2015)
A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)
E. Giorgio et al. (2015)
Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling
P. Callier et al.
Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster
F. A. Santoni et al.
Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21
Y. Hibaoui et al.
Next generation diagnostics on cardiomyopathy
J. L. Blouin et al. (2014)
Extrachromosomal driver mutations in glioblastoma and low-grade glioma
S. Nikolaev et al. (2014)
Exome sequencing in 53 sporadic cases of schizophrenia identifies 18 putative candidate genes
M. Guipponi et al. (2014)
TNPO3 protects HIV-1 replication from CPSF6-mediated capsid stabilization in the host cell cytoplasm
A. De Iaco et al. (2013)
The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro.
M. Guipponi et al. (2002)