Sophie Lejeune

Further delineation of the NTHL1 associated syndrome: A report from the French Oncogenetic Consortium.

Clin Genet 2021 Jan 17. Epub 2021 Jan 17.

Department of Genetics, Normandy Center for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France.

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January 2021

Germline PAX5 mutation predisposes to familial B acute lymphoblastic leukemia.

Blood 2020 Oct 9. Epub 2020 Oct 9.

centre de Recherches en cancérologie de Toulouse, Toulouse cedex 1, France.

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October 2020

Confirmation of risk of cancer in blepharocheilodontic syndrome.

Authors:

Jamal Ghoumid Sophie Lejeune Florence Renaud Morgane Stichelbout Florence Petit Sylvie Manouvrier-Hanu

Genet Med 2020 Oct 2;22(10):1727-1728. Epub 2020 Jun 2.

Université de Lille, EA7364 RADEME, Lille, France.

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October 2020

Germline mutations in the new E1' cryptic exon of the gene in patients with tumours of von Hippel-Lindau disease spectrum or with paraganglioma.

J Med Genet 2020 11 29;57(11):752-759. Epub 2020 Jan 29.

Université de Paris, PARCC, INSERM, Equipe Labellisée par la Ligue contre le Cancer, F-75015, Paris, France.

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November 2020

Osteosarcoma without prior retinoblastoma related to RB1 low-penetrance germline pathogenic variants: A novel type of RB1-related hereditary predisposition syndrome?

Authors:

Marion Imbert-Bouteille Marion Gauthier-Villars Dominique Leroux Isabelle Meunier Isabelle Aerts Livia Lumbroso-Le Rouic Sophie Lejeune Capucine Delnatte Caroline Abadie Pascal Pujol Claude Houdayer Carole Corsini

Mol Genet Genomic Med 2019 12 30;7(12):e913. Epub 2019 Sep 30.

Medical Genetics Department, CHU Montpellier, Univ Montpellier, Montpellier, France.

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December 2019

MSH2 c.1022T>C, p.Leu341Pro is a founder pathogenic variation and a major cause of Lynch syndrome in the North of France.

Authors:

Catherine Vermaut Julie Leclerc Francis Vasseur Agnes Wacrenier Tonio Lovecchio Denis Boidin Marie-Helene Rebergue Stephane Cattan Sylvie Manouvrier Sophie Lejeune Marie-Pierre Buisine

Genes Chromosomes Cancer 2020 02 3;59(2):111-118. Epub 2019 Sep 3.

Department of Biochemistry and Molecular Biology, Inserm UMR-S1172 - Jean-Pierre Aubert Research Center, Lille University, and Lille University Hospital, Lille, France.

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February 2020

Calprotectin alone is not sufficient to predict response to methotrexate in early ACR/EULAR 2010 rheumatoid arthritis: Analysis of the ESPOIR cohort.

Authors:

Chloé Bernardy Sophie Lejeune Anaïs Courtier Daniel Wendling Francis Berenbaum Minh Vu Chuong Nguyen Philippe Gaudin Marie Hélène Paclet Athan Baillet

Joint Bone Spine 2020 Jan 17;87(1):99-100. Epub 2019 Jul 17.

Rheumatology department, hôpital Sud, Grenoble Teaching Hospital, CHU de Grenoble-Alpes, Avenue de Kimberley, BP 338, 38434 Échirolles Cedex, France; University Grenoble-Alpes, GREPI EA7408, 38000 Grenoble, France.

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January 2020

Optimization of Next-Generation Sequencing Technologies for von Hippel Lindau (VHL) Mosaic Mutation Detection and Development of Confirmation Methods.

Authors:

Lucie Coppin Pascal Plouvier Michel Crépin Anne-Sophie Jourdain Emilie Ait Yahya Stéphane Richard Brigitte Bressac-de Paillerets Catherine Cardot-Bauters Sophie Lejeune Julie Leclerc Pascal Pigny

J Mol Diagn 2019 05 5;21(3):462-470. Epub 2019 Feb 5.

UMR-S 1172-Jean-Pierre Aubert Research Center, University of Lille, Lille, France; INSERM, UMR-S 1172, Team on Mucins, Epithelial Differentiation and Carcinogenesis, Lille, France; Department of Biochemistry and Molecular Biology, Centre Hospitalier Régional et Universitaire de Lille, Lille, France. Electronic address:

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May 2019

Unusual case of anorexia.

Authors:

Laura Darmaun Estelle Aubry Sophie Lejeune Helene Sudour-Bonnange

BMJ Case Rep 2018 Jun 4;2018. Epub 2018 Jun 4.

Pediatric and AYA oncology Unit, oscar lambret center, lille, France.

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June 2018

Diversity of genetic events associated with MLH1 promoter methylation in Lynch syndrome families with heritable constitutional epimutation.

Authors:

Julie Leclerc Cathy Flament Tonio Lovecchio Lucie Delattre Emilie Ait Yahya Stéphanie Baert-Desurmont Nelly Burnichon Myriam Bronner Odile Cabaret Sophie Lejeune Rosine Guimbaud Gilles Morin Jacques Mauillon Philippe Jonveaux Pierre Laurent-Puig Thierry Frébourg Nicole Porchet Marie-Pierre Buisine

Genet Med 2018 12 12;20(12):1589-1599. Epub 2018 Apr 12.

Inserm UMR-S 1172, JPA Research Center, Lille University, and Department of Biochemistry and Molecular Biology, Lille University Hospital, Lille, France.

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December 2018

Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers.

Breast Cancer Res 2018 04 17;20(1):28. Epub 2018 Apr 17.

INSERM, U900, Paris, France.

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April 2018

Detection of a new heterozygous germline ETV6 mutation in a case with hyperdiploid acute lymphoblastic leukemia.

Authors:

Nicolas Duployez Wadih Abou Chahla Sophie Lejeune Alice Marceau-Renaut Guillaume Letizia Thomas Boyer Sandrine Geffroy Pauline Peyrouze Nathalie Grardel Brigitte Nelken Gérard Michel Yves Bertrand Claude Preudhomme

Eur J Haematol 2018 Jan 9;100(1):104-107. Epub 2017 Nov 9.

Laboratory of Hematology, CHU Lille, Lille, France.

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January 2018

Myelodysplastic syndromes and acute leukemia with genetic predispositions: a new challenge for hematologists.

Authors:

Nicolas Duployez Sophie Lejeune Aline Renneville Claude Preudhomme

Expert Rev Hematol 2016 Dec 21;9(12):1189-1202. Epub 2016 Nov 21.

a Laboratory of Hematology , CHU Lille , Lille , France.

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December 2016

Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents.

Authors:

Sahra Bodo Chrystelle Colas Olivier Buhard Ada Collura Julie Tinat Noémie Lavoine Agathe Guilloux Alexandra Chalastanis Philippe Lafitte Florence Coulet Marie-Pierre Buisine Denisa Ilencikova Clara Ruiz-Ponte Miriam Kinzel Sophie Grandjouan Hilde Brems Sophie Lejeune Hélène Blanché Qing Wang Olivier Caron Odile Cabaret Magali Svrcek Dominique Vidaud Béatrice Parfait Alain Verloes Ulrich J Knappe Florent Soubrier Isabelle Mortemousque Alexander Leis Jessie Auclair-Perrossier Thierry Frébourg Jean-François Fléjou Natacha Entz-Werle Julie Leclerc David Malka Odile Cohen-Haguenauer Yael Goldberg Anne-Marie Gerdes Faten Fedhila Michèle Mathieu-Dramard Richard Hamelin Badre Wafaa Marion Gauthier-Villars Franck Bourdeaut Eamonn Sheridan Hans Vasen Laurence Brugières Katharina Wimmer Martine Muleris Alex Duval

Gastroenterology 2015 Oct 25;149(4):1017-29.e3. Epub 2015 Jun 25.

INSERM, UMR_S 938 Centre de Recherche Saint-Antoine, Equipe Instabilité des Microsatellites et Cancer, équipe labellisée par la Ligue Nationle contre le Cancer, Paris, France; UPMC Univ Paris, Paris, France. Electronic address:

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October 2015