Aline Receveur

Aline Receveur

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Aline Receveur

Aline Receveur

Publications by authors named "Aline Receveur"

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First prenatal case of proximal 19p13.12 microdeletion syndrome: New insights and new delineation of the syndrome.

Eur J Med Genet 2018 Jun 3;61(6):322-328. Epub 2018 Feb 3.

APHP, Service d'Histologie, Embryologie et Cytogénétique, Hôpitaux Universitaires Paris-Sud, Hôpital Antoine Béclère, 92140, Clamart, France; Faculté de Médecine Paris-Sud, Université Paris-Sud, 94276 Le Kremlin-Bicêtre cedex, France.

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http://dx.doi.org/10.1016/j.ejmg.2018.01.009DOI Listing
June 2018

Prenatal diagnosis of isochromosome 20q in a fetus with vertebral anomaly and rocker-bottom feet.

Taiwan J Obstet Gynecol 2017 Oct;56(5):677-680

Service d'Histologie Embryologie Cytogénétique, Hôpitaux universitaires Paris-Sud, Site Antoine Béclère, APHP, Clamart, France; Université Paris-Sud Faculté de Médecine, Le Kremlin Bicêtre, France.

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http://dx.doi.org/10.1016/j.tjog.2017.08.018DOI Listing
October 2017

Growth hormone deficiency and pituitary malformation in a recurrent Cat-Eye syndrome: a family report.

Ann Endocrinol (Paris) 2015 Oct 27;76(5):629-34. Epub 2015 Oct 27.

EA 4666, département de génétique, université de Picardie-Jules-Verne, CHU d'Amiens, 80054 Amiens, France. Electronic address:

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http://dx.doi.org/10.1016/j.ando.2015.02.002DOI Listing
October 2015

Azoospermia and trisomy 18p syndrome: a fortuitous association? A patient report and a review of the literature.

Mol Cytogenet 2015 4;8:34. Epub 2015 Jun 4.

Médecine et Biologie de la Reproduction, Cytogénétique et CECOS de Picardie, Centre de Biologie Humaine, Centre Hospitalier Universitaire d'Amiens, Rue René Laennec, 80054 Amiens, Cedex 1 France.

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http://dx.doi.org/10.1186/s13039-015-0141-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4453045PMC
June 2015

Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: six new patients.

Am J Med Genet A 2015 Mar 8;167A(3):504-11. Epub 2015 Jan 8.

Unité de Génétique Médicale et Oncogénétique, Centre Hospitalier Universitaire Amiens Picardie, Amiens, France; Laboratoire de Cytogénétique et Biologie de la Reproduction, Centre Hospitalier Universitaire Amiens Picardie, Amiens, France.

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http://dx.doi.org/10.1002/ajmg.a.36882DOI Listing
March 2015

Involvement of interstitial telomeric sequences in two new cases of mosaicism for autosomal structural rearrangements.

Am J Med Genet A 2015 Feb 26;167A(2):428-33. Epub 2014 Nov 26.

Service de Génétique et Embryologie médicales, AP-HP, Hôpital Armand Trousseau, Université Paris VI, Paris, France; Département de génétique, AP-HP, Hôpital Robert Debré, Université Paris VII, Paris, France.

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http://doi.wiley.com/10.1002/ajmg.a.36857
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http://dx.doi.org/10.1002/ajmg.a.36857DOI Listing
February 2015

Severe psychomotor delay in a severe presentation of cat-eye syndrome.

Case Rep Genet 2015 14;2015:943905. Epub 2015 Jan 14.

Unité de Génétique Médicale et Oncogénétique, Centre Hospitalier Universitaire Amiens-Picardie, 80054 Amiens Cedex, France.

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http://dx.doi.org/10.1155/2015/943905DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4310452PMC
February 2015

A severe prenatal presentation of Cat Eye Syndrome.

Clin Dysmorphol 2013 Oct;22(4):175-7

aDepartment of Genetics , University Hospital , Research Unit 4666, University of Picardy Departments of bCytogenetics cPrenatal Diagnosis dOphthalmology eHistopathology and Cytology, University Hospital, Amiens and fInstitute of Medical Genetics, University Hospital, Lille, France.

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http://pdfs.journals.lww.com/clindysmorphol/2013/10000/A_sev
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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/MCD.0000000000000011DOI Listing
October 2013

Trisomy 4 associated with double minute chromosomes and MYC amplification in acute myeloblastic leukemia.

Ann Genet 2004 Oct-Dec;47(4):423-7

Groupe Hospitalier Pitié-Salpêtrière, Service d'Hématologie Biologique, Paris, France.

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http://dx.doi.org/10.1016/j.anngen.2004.08.004DOI Listing
May 2005

Detecting single DNA copy number variations in complex genomes using one nanogram of starting DNA and BAC-array CGH.

Nucleic Acids Res 2004 Jul 29;32(13):e112. Epub 2004 Jul 29.

Génomique Cellulaire des Cancers, CNRS UMR 8125, Institut Gustave Roussy, 39 rue Camille Desmoulins, 94805 Villejuif Cedex, France.

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http://dx.doi.org/10.1093/nar/gnh108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC506828PMC
July 2004

Multiple excitation confocal analysis of targets in nuclei of cytogenetic preparations.

Anal Quant Cytol Histol 2004 Feb;26(1):1-6

Institut National de la Santé et de la Recherche Médicale U494, Centre Hospitalier Universitaire Pitié-Salpêtrière, 75634 Paris, France.

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February 2004

Analysis of chromosomal instability in pulmonary or liver metastases and matched primary hepatocellular carcinoma after orthotopic liver transplantation.

Int J Cancer 2003 May;104(6):745-51

Service de Biochimie et Biologie moléculaire, Hôspital Universitaire Paul Brousse, INSERM U268, IFR 89 "Biologie intégrée de la cellule, Birus et Cancer," Faculté de Médicine Paris-Sud, Paris, France.

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http://dx.doi.org/10.1002/ijc.11017DOI Listing
May 2003