Celine Pebrel-Richard

Celine Pebrel-Richard

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Celine Pebrel-Richard

Celine Pebrel-Richard

Publications by authors named "Celine Pebrel-Richard"

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20Publications

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Is BRCA2 involved in early onset colorectal cancer risk?

Clin Genet 2019 Dec 26. Epub 2019 Dec 26.

Université Clermont Auvergne, INSERM, U1240 Imagerie Moléculaire et Stratégies Théranostiques, Clermont Ferrand, France.

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http://dx.doi.org/10.1111/cge.13679DOI Listing
December 2019

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.

J Med Genet 2019 08 28;56(8):526-535. Epub 2019 Mar 28.

Service de Génétique, Hospices Civils de Lyon, Bron, France.

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http://dx.doi.org/10.1136/jmedgenet-2018-105778DOI Listing
August 2019

Sperm meiotic segregation of a balanced interchromosomal reciprocal insertion resulting in recurrent spontaneous miscarriage.

Reprod Biomed Online 2018 Jul 9;37(1):100-106. Epub 2018 Apr 9.

Medical Cytogenetics Department, CHU Estaing, F-63003 Clermont-Ferrand, France; Université Clermont Auvergne, INSERM, U1240 Imagerie Moléculaire et Stratégies Théranostiques, F-63000 Clermont-Ferrand, France. Electronic address:

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http://dx.doi.org/10.1016/j.rbmo.2018.03.019DOI Listing
July 2018

Spatial organization of chromosome territories in the interphase nucleus of trisomy 21 cells.

Chromosoma 2018 06 14;127(2):247-259. Epub 2017 Dec 14.

ERTICA EA 4677, Université Clermont Auvergne, 63000, Clermont-Ferrand, France.

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http://dx.doi.org/10.1007/s00412-017-0653-6DOI Listing
June 2018

Characterization by microarray and meiotic segregation study of a der(10)t(10;18) in a patient with infertility and normal phenotype.

Asian J Androl 2017 Jan-Feb;19(1):135-137

Department of Medical Cytogenetic, Univ Clermont 1, CHU Estaing, Clermont-Ferrand, France EA 4677, ERTICa, Univ Clermont 1, Clermont-Ferrand, France.

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http://dx.doi.org/10.4103/1008-682X.172818DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5227663PMC
February 2017

A case which further refines the critical region for 15q25.2 microduplication phenotypes.

Acta Neurol Belg 2016 Dec 29;116(4):683-685. Epub 2016 Feb 29.

Génétique médicale, Université d'Auvergne, Centre hospitalo-universitaire de Clermont-Ferrand, Clermont-Ferrand, France.

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http://dx.doi.org/10.1007/s13760-016-0620-7DOI Listing
December 2016

Prenatal Screening of 21 Microdeletion/Microduplication Syndromes and Subtelomeric Imbalances by MLPA in Fetuses with Increased Nuchal Translucency and Normal Karyotype.

Cytogenet Genome Res 2015 21;146(1):28-32. Epub 2015 Jul 21.

Service de Cytogx00E9;nx00E9;tique Mx00E9;dicale, Unitx00E9; de Mx00E9;decine Fx0153;tale, CHU Clermont-Ferrand, Clermont-Ferrand, France.

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http://dx.doi.org/10.1159/000435865DOI Listing
March 2016

Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability.

Am J Hum Genet 2016 Feb 28;98(2):363-72. Epub 2016 Jan 28.

Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester M13 9WL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre (MAHSC), Manchester M13 9WL, UK. Electronic address:

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http://www.cell.com/ajhg/pdf/S0002-9297(15)00509-1.pdf
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http://linkinghub.elsevier.com/retrieve/pii/S000292971500509
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http://dx.doi.org/10.1016/j.ajhg.2015.12.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4746363PMC
February 2016

Congenital diaphragmatic hernia may be associated with 17q12 microdeletion syndrome.

Am J Med Genet A 2015 Jan 25;167A(1):250-3. Epub 2014 Nov 25.

Cytogénétique Médicale, Univ Clermont1, UFR Médecine, CHU Clermont-Ferrand, CHU Estaing, France; EA 4677, ERTICa, Université d'Auvergne, Clermont-Ferrand, France.

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http://dx.doi.org/10.1002/ajmg.a.36840DOI Listing
January 2015

Refinement of the critical region in a new 7p22.1 microduplication syndrome including craniofacial dysmorphism and speech delay.

Am J Med Genet A 2014 Nov 14;164A(11):2964-7. Epub 2014 Aug 14.

Cytogénétique Médicale, Univ Clermont1, UFR Médecine, CHU Estaing, Clermont-Ferrand, France; ERTICa, EA 4677, Univ Clermont1, UFR Médecine, France.

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http://dx.doi.org/10.1002/ajmg.a.36715DOI Listing
November 2014

Clinical and molecular description of a 17q21.33 microduplication in a girl with severe kyphoscoliosis and developmental delay.

Eur J Med Genet 2014 Oct 6;57(10):552-7. Epub 2014 Aug 6.

Univ Clermont 1, UFR Médecine, Cytologie Histologie Embryologie Cytogénétique, Clermont-Ferrand, F-63001, France; CHU Estaing, Cytogénétique Médicale, Clermont-Ferrand, F-63003, France; ERTICa, Univ Clermont 1, UFR Médecine, Clermont-Ferrand, F-63001, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.07.003DOI Listing
October 2014

De novo 2q36.1q36.3 interstitial deletion involving the PAX3 and EPHA4 genes in a fetus with spina bifida and cleft palate.

Birth Defects Res A Clin Mol Teratol 2014 Jun 18;100(6):507-11. Epub 2014 Apr 18.

Cytogénétique Médicale, Université Clermont1, UFR Médecine, CHU Clermont-Ferrand, CHU Estaing, France.

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http://dx.doi.org/10.1002/bdra.23246DOI Listing
June 2014

A new case of 8q22.1 microdeletion restricts the critical region for Nablus mask-like facial syndrome.

Am J Med Genet A 2013 Jan 13;161A(1):162-5. Epub 2012 Dec 13.

Génétique Médicale, Univ Clermont1, UFR Médecine, CHU Clermont-Ferrand, CHU Estaing, France.

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http://dx.doi.org/10.1002/ajmg.a.35614DOI Listing
January 2013

An atypical 0.8 Mb inherited duplication of 22q11.2 associated with psychomotor impairment.

Eur J Med Genet 2012 Nov 14;55(11):650-5. Epub 2012 Jul 14.

Cytogénétique Médicale, Univ Clermont1, UFR Médecine, CHU Clermont-Ferrand, CHU Estaing, 1 place Lucie Aubrac, 63003 Clermont-Ferrand Cedex1, France.

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http://dx.doi.org/10.1016/j.ejmg.2012.06.014DOI Listing
November 2012