Publications by authors named "Pascal Chambon"

17Publications

Patients with 10q22.3q23.1 recurrent deletion syndrome are at risk for juvenile polyposis.

Eur J Med Genet 2020 Apr 24;63(4):103773. Epub 2019 Sep 24.

Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, F76000, Rouen, France.

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http://dx.doi.org/10.1016/j.ejmg.2019.103773DOI Listing
April 2020

[Malignant meningioma with adenocarcinoma-like metaplasia: a rare entity to be not misdiagnosed].

Ann Pathol 2014 Jun 17;34(3):223-7. Epub 2014 May 17.

Laboratoire d'anatomie et de cytologie pathologiques, CHU de Rouen, pavillon Jacques-Delarue, 1, rue de Germont, 76031 Rouen cedex, France.

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http://dx.doi.org/10.1016/j.annpat.2014.03.004DOI Listing
June 2014

Clinical assessment of five patients with BRWD3 mutation at Xq21.1 gives further evidence for mild to moderate intellectual disability and macrocephaly.

Eur J Med Genet 2014 Apr 22;57(5):200-6. Epub 2014 Jan 22.

Department of Genetics, Rouen University Hospital, Rouen, France; Inserm U1079, Rouen, France; Normandie University, IRIB, Rouen, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2013.12.012DOI Listing
April 2014

Pitfalls in the use of DGV for CNV interpretation.

Am J Med Genet A 2011 Oct 9;155A(10):2593-6. Epub 2011 Sep 9.

Inserm U, Faculty of Medicine, Rouen University, France.

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http://dx.doi.org/10.1002/ajmg.a.34195DOI Listing
October 2011

Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions.

Eur J Hum Genet 2008 Aug 14;16(8):1014-8. Epub 2008 May 14.

Laboratoire de Génétique, Centre Hospitalier Universitaire de Nancy Brabois, Nancy Université, EA4002, France.

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http://dx.doi.org/10.1038/ejhg.2008.89DOI Listing
August 2008