Karine Siquier-Pernet

Karine Siquier-Pernet

UNVERIFIED PROFILE

Are you Karine Siquier-Pernet?   Register this Author

Register author
Karine Siquier-Pernet

Karine Siquier-Pernet

Publications by authors named "Karine Siquier-Pernet"

Are you Karine Siquier-Pernet?   Register this Author

15Publications

476Reads

27Profile Views

Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance.

Eur J Hum Genet 2018 06 26;26(6):912-918. Epub 2018 Feb 26.

Service d'Histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfants-Malades, Université Paris Descartes, 149, rue de Sèvres, 75015, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41431-018-0124-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5974246PMC
June 2018

Profiling olfactory stem cells from living patients identifies miRNAs relevant for autism pathophysiology.

Mol Autism 2016 8;7. Epub 2016 Jan 8.

INSERM UMR 1163, Laboratory of Molecular and pathophysiological bases of cognitive disorders, Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Necker-Enfants Malades Hospital, 24 boulevard du Montparnasse, 75015 Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13229-015-0064-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4705753PMC
April 2016

A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy.

Eur J Hum Genet 2016 Mar 8;24(3):455-8. Epub 2015 Jul 8.

Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, INSERM UMR 1163, Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Necker-Enfants Malades Hospital, Paris, France.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/ejhg2015140
Publisher Site
http://dx.doi.org/10.1038/ejhg.2015.140DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4755376PMC
March 2016

Refining the phenotype associated with CASC5 mutation.

Neurogenetics 2016 Jan 1;17(1):71-8. Epub 2015 Dec 1.

INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Imagine Institute, Necker-Enfants Malades Hospital, Paris Descartes-Sorbonne Paris Cité University, 75015, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10048-015-0468-7DOI Listing
January 2016

Contiguous mutation syndrome in the era of high-throughput sequencing.

Mol Genet Genomic Med 2015 May 18;3(3):215-20. Epub 2015 Mar 18.

INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Necker-Enfants Malades Hospital 75015, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mgg3.134DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4444163PMC
May 2015

Mutation in TTI2 reveals a role for triple T complex in human brain development.

Hum Mutat 2013 Nov 10;34(11):1472-6. Epub 2013 Sep 10.

INSERM U781, Université Paris Descartes, Sorbonne Paris Cité, Institut IMAGINE, Hôpital Necker-Enfants Malades, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22399DOI Listing
November 2013

Differential expression of the 18 kDa translocator protein (TSPO) by neoplastic and inflammatory cells in mouse tumors of breast cancer.

Mol Pharm 2011 Jun 4;8(3):823-32. Epub 2011 Apr 4.

Laboratoire d'Imagerie Moléculaire Expérimentale, Université Paris Sud , INSERM Unit 1023, 4 Place du Général Leclerc, F-91400 Orsay, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1021/mp100433cDOI Listing
June 2011

Molecular imaging study on in vivo distribution and pharmacokinetics of modified small interfering RNAs (siRNAs).

Oligonucleotides 2008 Sep;18(3):201-12

Laboratoire d'imagerie de l'Expression des gènes, CEA, DSV, I2BM, SHFJ, LIME, INSERM, Orsay, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/oli.2008.0133DOI Listing
September 2008