Publications by authors named "Fabienne Escande"

57Publications

Mandibular-pelvic-patellar syndrome is a novel PITX1-related disorder due to alteration of PITX1 transactivation ability.

Hum Mutat 2020 Sep 15;41(9):1499-1506. Epub 2020 Jul 15.

Service de Génétique, Centre de Référence Anomalies du Développement et Centre de Compétences Maladies Osseuses Constitutionnelles, Hospices Civils de Lyon, Bron, France.

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http://dx.doi.org/10.1002/humu.24070DOI Listing
September 2020

Alterations in the PI3K Pathway Drive Resistance to MET Inhibitors in NSCLC Harboring MET Exon 14 Skipping Mutations.

J Thorac Oncol 2020 May 10;15(5):741-751. Epub 2020 Mar 10.

University of Lille, CNRS, Inserm, CHU Lille, Institut Pasteur de Lille, UMR9020 - UMR-S 1277 - Canther - Cancer Heterogeneity, Plasticity and Resistance to Therapies, Lille, France; Thoracic Oncology Department, CHU Lille, University of Lille, Lille, France. Electronic address:

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http://dx.doi.org/10.1016/j.jtho.2020.01.027DOI Listing
May 2020

Comprehensive In Vivo Interrogation Reveals Phenotypic Impact of Human Enhancer Variants.

Cell 2020 03 12;180(6):1262-1271.e15. Epub 2020 Mar 12.

Environmental Genomics and Systems Biology Division, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA; U.S. Department of Energy Joint Genome Institute, Berkeley, CA 94720, USA; Comparative Biochemistry Program, University of California, Berkeley, CA 94720, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2020.02.031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7179509PMC
March 2020

Split hand/foot malformation associated with 20p12.1 deletion: A case report.

Eur J Med Genet 2020 Apr 4;63(4):103805. Epub 2019 Nov 4.

Centre de Génétique Humaine, CHU Besançon, Université de Franche -Comté, Besançon, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.103805DOI Listing
April 2020

Identification of prognostic markers in diffuse midline gliomas H3K27M-mutant.

Brain Pathol 2020 01 14;30(1):179-190. Epub 2019 Aug 14.

Institute of Pathology, Centre de Biologie Pathologie, Lille University Hospital, Lille, F-59000, France.

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http://dx.doi.org/10.1111/bpa.12768DOI Listing
January 2020

Relevance of Detection of Mechanisms of Resistance to ALK Inhibitors in ALK-Rearranged NSCLC in Routine Practice.

Clin Lung Cancer 2019 07 26;20(4):297-304.e1. Epub 2019 Feb 26.

Thoracic Oncology Department, Univ. Lille CHU Lille, Lille, France; UMR 8161 M3T Mechanisms of Tumorigenesis and Targeted Therapies, Univ. Lille CNRS Institut Pasteur de Lille, Lille, France. Electronic address:

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http://dx.doi.org/10.1016/j.cllc.2019.02.013DOI Listing
July 2019

WNT10B variants in split hand/foot malformation: Report of three novel families and review of the literature.

Am J Med Genet A 2019 07 3;179(7):1351-1356. Epub 2019 May 3.

Clinique de Génétique Guy Fontaine, Hôpital Jeanne de Flandre, CHU Lille, Lille, France.

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http://dx.doi.org/10.1002/ajmg.a.61177DOI Listing
July 2019

Clinical Relevance of EGFR- or KRAS-mutated Subclones in Patients With Advanced Non-small-cell Lung Cancer Receiving Erlotinib in a French Prospective Cohort (IFCT ERMETIC2 Cohort - Part 2).

Clin Lung Cancer 2019 05 19;20(3):222-230. Epub 2018 Dec 19.

Intergroupe Francophone de Cancérologie Thoracique (IFCT), Paris, France; Service de Pneumologie, Assistance Publique Hôpitaux de Paris, Hôpital Tenon, GRC-04 Theranoscan, Université Paris VI, 75970 Paris, France.

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http://dx.doi.org/10.1016/j.cllc.2018.12.012DOI Listing
May 2019

Optimization of Routine Testing for MET Exon 14 Splice Site Mutations in NSCLC Patients.

J Thorac Oncol 2018 12 7;13(12):1873-1883. Epub 2018 Sep 7.

Lille University, CNRS, Institut Pasteur de Lille, Mechanisms of Tumorigenesis and Targeted Therapies, Lille, France; Lille University, Thoracic Oncology Department, CHU Lille, Lille, France. Electronic address:

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http://dx.doi.org/10.1016/j.jtho.2018.08.2023DOI Listing
December 2018

Evaluation of non-supervised MALDI mass spectrometry imaging combined with microproteomics for glioma grade III classification.

Biochim Biophys Acta Proteins Proteom 2017 Jul 24;1865(7):875-890. Epub 2016 Nov 24.

Univ. Lille, INSERM U1192, Laboratoire Protéomique, Réponse Inflammatoire et Spectrométrie de Masse (PRISM), F-59000 Lille, France. Electronic address:

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http://dx.doi.org/10.1016/j.bbapap.2016.11.012DOI Listing
July 2017

ALK rearrangements-associated renal cell carcinoma (RCC) with unique pathological features in an adult.

Pathol Res Pract 2016 Nov 2;212(11):1064-1066. Epub 2016 Aug 2.

Department of Pathology, Univ. Lille, CHU, F-59000 Lille, France. Electronic address:

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http://dx.doi.org/10.1016/j.prp.2016.07.015DOI Listing
November 2016

Clinical effect of molecular methods in sarcoma diagnosis (GENSARC): a prospective, multicentre, observational study.

Lancet Oncol 2016 Apr 10;17(4):532-538. Epub 2016 Mar 10.

Laboratory of Solid Tumor Genetics, Nice University Hospital, Nice, France; Institute for Research on Cancer and Aging of Nice (IRCAN), Faculty of Medicine, University of Nice-Sophia-Antipolis, CNRS, Nice, France.

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http://dx.doi.org/10.1016/S1470-2045(15)00583-5DOI Listing
April 2016

In vitro short-term exposure to air pollution PM2.5-0.3 induced cell cycle alterations and genetic instability in a human lung cell coculture model.

Environ Res 2016 May 11;147:146-58. Epub 2016 Feb 11.

Université de Lille, Lille, France; EA4492-UCEIV, Université du Littoral-Côte d'Opale, Dunkerque, France; EA4483-IMPECS, Université de Lille 2, Lille, France. Electronic address:

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http://dx.doi.org/10.1016/j.envres.2016.01.041DOI Listing
May 2016

Long survival in a child with a mutated K27M-H3.3 pilocytic astrocytoma.

Ann Clin Transl Neurol 2015 Apr 3;2(4):439-43. Epub 2015 Mar 3.

Pediatric Oncology Unit, Oscar Lambret Center Lille, France ; Unité Tumorigénèse et Résistance au Traitement, INSERM U908, Oscar Lambret Center Lille, France.

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http://dx.doi.org/10.1002/acn3.184DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4402089PMC
April 2015

Evidence of constitutional MLH1 epimutation associated to transgenerational inheritance of cancer susceptibility.

Hum Mutat 2012 Jan 31;33(1):180-8. Epub 2011 Oct 31.

Oncologie et Génétique Moléculaires, Service de Biochimie et Biologie Moléculaire HMNO, CHRU de Lille, France.

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http://dx.doi.org/10.1002/humu.21617DOI Listing
January 2012

A familial syndromal form of omphalocele.

Eur J Med Genet 2011 May-Jun;54(3):337-40. Epub 2011 Feb 17.

Clinical Genetics Unit, University Hospital, Pointe-à-Pitre University Hospital, Guadalupe Island, France.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212110001
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http://dx.doi.org/10.1016/j.ejmg.2011.02.001DOI Listing
September 2011

Loss of 1p, 19q, and 10q heterozygosity prospectively predicts prognosis of oligodendroglial tumors--towards individualized tumor treatment?

Neuro Oncol 2010 May 14;12(5):490-9. Epub 2010 Feb 14.

Neuro-oncology and Neurosurgery Department, R Salengro Hospital, Biology and Pathology Center, Lille University Medical Center, Lille, France.

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https://academic.oup.com/neuro-oncology/article/12/5/490/115
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http://dx.doi.org/10.1093/neuonc/nop071DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2940615PMC
May 2010

Role of air pollution Particulate Matter (PM(2.5)) in the occurrence of loss of heterozygosity in multiple critical regions of 3p chromosome in human epithelial lung cells (L132).

Toxicol Lett 2009 Jun 9;187(3):172-9. Epub 2009 Mar 9.

Service de Pneumologie, Hôpital Saint-Philibert, Groupement Hospitalier de l'Institut Catholique-Faculté Libre de Médecine de Lille, Rue du Grand But, BP 249, 59462 Lomme Cedex, France.

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http://dx.doi.org/10.1016/j.toxlet.2009.02.016DOI Listing
June 2009

Neurological aspects of hyperinsulinism-hyperammonaemia syndrome.

Dev Med Child Neurol 2008 Dec;50(12):945-9

Department of Paediatric Neurology and Metabolic Diseases, Necker Children's Hospital, Paris V University, Paris, France.

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http://dx.doi.org/10.1111/j.1469-8749.2008.03114.xDOI Listing
December 2008

Myoclonic absence epilepsy with photosensitivity and a gain of function mutation in glutamate dehydrogenase.

Seizure 2008 Oct 5;17(7):658-64. Epub 2008 Mar 5.

Service de Neurologie Pediatrique et Maladies Metaboliques, Departement de Pediatrie, Hopital Necker Enfants Malades, AP-HP, Université Paris Descartes, Paris, France.

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http://linkinghub.elsevier.com/retrieve/pii/S105913110800033
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http://dx.doi.org/10.1016/j.seizure.2008.01.005DOI Listing
October 2008

A new mutation in TP63 is associated with age-related pathology.

Eur J Hum Genet 2007 Nov 4;15(11):1115-20. Epub 2007 Jul 4.

Service de Génétique Clinique, Hôpital Jeanne de Flandre, CHRU, Lille, France.

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http://dx.doi.org/10.1038/sj.ejhg.5201888DOI Listing
November 2007

Acro-dermato-ungual-lacrimal-tooth-like syndrome: report of a family with variable expression.

Clin Dysmorphol 2006 Oct;15(4):239-41

Medical Genetic Unit, IRCCS Foundation Policlinico, Mangiagalli and Regina Elena, Milan, Italy.

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http://dx.doi.org/10.1097/01.mcd.0000220618.01144.6dDOI Listing
October 2006

MUC4 gene polymorphism and expression in women with implantation failure.

Hum Reprod 2006 Sep 28;21(9):2238-45. Epub 2006 Jun 28.

Laboratoire de Biologie de la Reproduction, C.M.C.O., Schiltigheim Cedex, France.

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https://academic.oup.com/humrep/article-lookup/doi/10.1093/h
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http://dx.doi.org/10.1093/humrep/del189DOI Listing
September 2006

Evaluation of denaturing high performance liquid chromatography for the mutational analysis of the MEN1 gene.

J Mol Endocrinol 2006 Apr;36(2):369-76

Unité Fonctionnelle d'Oncologie - Laboratoire de Biochimie, Hormonologie, Métabolisme-Nutrition, Oncologie - Eurasanté- CHRU Lille, Rue du Docteur Yersin, 59037 Lille Cedex, France.

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http://intl-jme.endocrinology-journals.org/content/36/2/369.
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http://jme.endocrinology-journals.org/cgi/doi/10.1677/jme.1.
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http://dx.doi.org/10.1677/jme.1.01903DOI Listing
April 2006

Efficient mutation detection in MEN1 gene using a combination of single-strand conformation polymorphism (MDGA) and heteroduplex analysis.

Electrophoresis 2003 Jan;24(1-2):26-33

Secteur Oncologie Moléculaire Huriez-USN, Laboratoire de Biochimie et Biologie Moléculaire, CHRU, Lille, France.

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http://doi.wiley.com/10.1002/elps.200390023
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http://dx.doi.org/10.1002/elps.200390023DOI Listing
January 2003