Sophie Thomas

Sophie Thomas

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Sophie Thomas

Sophie Thomas

Publications by authors named "Sophie Thomas"

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Cyclometalated Au Complexes for Cysteine Arylation in Zinc Finger Protein Domains: towards Controlled Reductive Elimination.

Chemistry 2019 Apr 16. Epub 2019 Apr 16.

School of Chemistry, Cardiff University, Main Building, Park Place, CF10 3AT, Cardiff, UK.

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http://dx.doi.org/10.1002/chem.201901535DOI Listing
April 2019

Altered GLI3 and FGF8 signaling underlies Acrocallosal syndrome phenotypes in Kif7 depleted mice.

Hum Mol Genet 2018 Nov 15. Epub 2018 Nov 15.

Université Claude Bernard Lyon 1,CNRS UMR-5310, INSERM U-1217, Institut NeuroMyoGène, Lyon, France.

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http://fdslive.oup.com/www.oup.com/pdf/production_in_progres
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http://dx.doi.org/10.1093/hmg/ddy392DOI Listing
November 2018

Early discharge and rehabilitation in paediatric acquired brain and neurological injury: a transferable model.

Arch Dis Child Educ Pract Ed 2018 Oct 20. Epub 2018 Oct 20.

Department of Paediatric Neurosciences, Nottingham Children's Hospital, Queen's Medical Centre, Nottingham, UK.

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http://dx.doi.org/10.1136/archdischild-2018-315096DOI Listing
October 2018

Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesis.

Am J Med Genet A 2018 07 27;176(7):1610-1613. Epub 2018 Apr 27.

Unité d'Embryofoetopathologie, Service d'Histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfants Malades, Assistance Publique - Hôpitaux de Paris (AP-HP), Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.38685DOI Listing
July 2018

Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal disease.

Hum Mol Genet 2018 May 16. Epub 2018 May 16.

Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetics Diseases, Imagine and Paris Descartes University, 75015 Paris, France.

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http://dx.doi.org/10.1093/hmg/ddy179DOI Listing
May 2018

Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1.

Birth Defects Res 2018 04 8;110(6):538-542. Epub 2018 Jan 8.

Unité d'Embryofœtopathologie, Service d'Histologie Embryologie Cytogénétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris (APHP), Paris, France.

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http://doi.wiley.com/10.1002/bdr2.1191
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http://dx.doi.org/10.1002/bdr2.1191DOI Listing
April 2018

Professionals' views on the use of smartphone technology to support children and adolescents with memory impairment due to acquired brain injury.

Disabil Rehabil Assist Technol 2017 04 5;12(3):236-243. Epub 2016 Jan 5.

a School of Medicine , University of Nottingham , Nottingham , UK.

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http://dx.doi.org/10.3109/17483107.2015.1127436DOI Listing
April 2017

Neuropathological Hallmarks of Brain Malformations in Extreme Phenotypes Related to DYNC1H1 Mutations.

J Neuropathol Exp Neurol 2017 03;76(3):195-205

Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris and INSERM UMR-1163, Embryology and Genetics of Congenital Malformations, Paris France.

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http://dx.doi.org/10.1093/jnen/nlw124DOI Listing
March 2017

Maternal-fetal medicine specialists' experiences of conducting feticide as part of termination of pregnancy: a qualitative study.

Prenat Diagn 2016 Jan 7;36(1):92-9. Epub 2015 Dec 7.

Department of Clinical Psychology - Ground Floor Whelan Building, University of Liverpool, Liverpool, UK.

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http://dx.doi.org/10.1002/pd.4720DOI Listing
January 2016

NBS-LRR-mediated resistance triggered by aphids: viruses do not adapt; aphids adapt via different mechanisms.

BMC Plant Biol 2016 Jan 22;16:25. Epub 2016 Jan 22.

Institut National de la Recherche Agronomique (INRA), UR452, Unité de Pathologie Végétale, Domaine St Maurice - Allée des chênes, CS 60094, F-84143, Montfavet cedex, France.

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http://dx.doi.org/10.1186/s12870-016-0708-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4722753PMC
January 2016

Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity.

Eur J Hum Genet 2015 May 20;23(5):621-7. Epub 2014 Aug 20.

1] INSERM U1163, Hôpital Necker-Enfants Malades, Paris, France [2] Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, Paris, France [3] Département de Génétique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2014.156DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4402632PMC
May 2015

A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS.

J Am Soc Nephrol 2014 Nov 29;25(11):2435-43. Epub 2014 May 29.

INSERM U1163, Laboratory of Hereditary Kidney Diseases, Paris, France; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France; Assistance Publique-Hôpitaux de Paris, Department of Genetics, Necker Hospital, Paris, France;

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http://www.jasn.org/cgi/doi/10.1681/ASN.2013101126
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http://dx.doi.org/10.1681/ASN.2013101126DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4214529PMC
November 2014

Transcriptome profiling of genes involved in neural tube closure during human embryonic development using long serial analysis of gene expression (long-SAGE).

Birth Defects Res A Clin Mol Teratol 2012 Sep 18;94(9):683-92. Epub 2012 Jul 18.

Center for Human Genetics, Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710, USA.

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http://dx.doi.org/10.1002/bdra.23040DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3438356PMC
September 2012

What do spring migrants reveal about sex and host selection in the melon aphid?

BMC Evol Biol 2012 Apr 3;12:47. Epub 2012 Apr 3.

INRA, UMR1062 CBGP, F-34988 Montferrier-sur-Lez, France.

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http://dx.doi.org/10.1186/1471-2148-12-47DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3368726PMC
April 2012

PCP4 (PEP19) overexpression induces premature neuronal differentiation associated with Ca(2+) /calmodulin-dependent kinase II-δ activation in mouse models of Down syndrome.

J Comp Neurol 2011 Oct;519(14):2779-802

Functional Adaptive Biology (BFA), Centre National de la Recherche Scientifique (CNRS) EAC4413, Université Paris Diderot-Paris7, 75205 Paris Cedex 13, France.

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http://dx.doi.org/10.1002/cne.22651DOI Listing
October 2011

Mapping and validation of QTLs for resistance to aphids and whiteflies in melon.

Theor Appl Genet 2010 Jun 24;121(1):9-20. Epub 2010 Feb 24.

Génétique et Amélioration des Fruits et Légumes, INRA, UR1052, B.P. 94 F-84143, Montfavet cedex, France.

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http://dx.doi.org/10.1007/s00122-010-1287-8DOI Listing
June 2010

Human neural crest cells display molecular and phenotypic hallmarks of stem cells.

Hum Mol Genet 2008 Nov 8;17(21):3411-25. Epub 2008 Aug 8.

INSERM, U781, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75015 Paris, France.

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http://dx.doi.org/10.1093/hmg/ddn235DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2566525PMC
November 2008

Methylation-associated PHOX2B gene silencing is a rare event in human neuroblastoma.

Eur J Cancer 2007 Nov 31;43(16):2366-72. Epub 2007 Aug 31.

Unité de Recherches sur les Handicaps Génétiques de l'Enfant INSERM U-781, et Département de Génétique, Université René-Descartes, Faculté de Médecine, Hôpitaux de Paris, Hôpital Necker-Enfants Malades, 149, rue de Sèvres, 75743 Paris Cedex 15, France.

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http://dx.doi.org/10.1016/j.ejca.2007.07.016DOI Listing
November 2007

Cytogenetic and histological features of a human embryo with homogeneous chromosome 8 trisomy.

Prenat Diagn 2006 Dec;26(13):1201-5

INSERM U781, Hôpital Necker - Enfants Malades, 149 rue de Sèvres, 75743 Paris Cedex 15, France.

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http://dx.doi.org/10.1002/pd.1588DOI Listing
December 2006

PCP4 is highly expressed in ectoderm and particularly in neuroectoderm derivatives during mouse embryogenesis.

Gene Expr Patterns 2003 Mar;3(1):93-7

EA3508, Université Denis Diderot, 2 place Jussieu, 75251 Paris Cedex 05, France.

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March 2003