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Pediatric Rheumatology Online Journal|July 30, 2022
Is an association of acro-osteolysis, bone fragility, and enchondromatosis a newfound disease caused by an amplification of PTHLH? A case reportStéphane Echaubard, Céline Pebrel-Richard, Aurélie Chausset, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 11, 2010
Prenatal detection of cryptic rearrangements by multiplex ligation probe amplification in fetuses with ultrasound abnormalitiesCarole Goumy, Laetitia Gouas, Céline Pebrel-Richard, et al.
European Journal of Medical Genetics|August 10, 2014
Clinical and molecular description of a 17q21.33 microduplication in a girl with severe kyphoscoliosis and developmental delayStéphan Kemeny, Céline Pebrel-Richard, Eléonore Eymard-Pierre, et al.
European Journal of Medical Genetics|July 17, 2012
An atypical 0.8 Mb inherited duplication of 22q11.2 associated with psychomotor impairmentCéline Pebrel-Richard, Stéphan Kemeny, Laetitia Gouas, et al.
Chromosoma|December 15, 2017
Spatial organization of chromosome territories in the interphase nucleus of trisomy 21 cellsStephan Kemeny, Christophe Tatout, Gaelle Salaun, et al.
European Journal of Medical Genetics|July 12, 2021
Further refining the critical region of 10q26 microdeletion syndrome: A possible involvement of INSYN2 and NPS in the cognitive phenotypeFlorian Cherik, Mathis Lepage, Ganaelle Remerand, et al.
American Journal of Medical Genetics. Part A|December 15, 2012
A new case of 8q22.1 microdeletion restricts the critical region for Nablus mask-like facial syndromeAnne Debost-Legrand, Eleonore Eymard-Pierre, Céline Pebrel-Richard, et al.
Clinical Genetics|July 22, 2025
French Guidelines of the AchroPuce Network for the Interpretation and Reporting of Constitutional Copy Number VariantsCéline Pebrel-Richard, Paul Kuentz, Anne-Claude Tabet, et al.
Cytogenetic and Genome Research|July 24, 2015
Prenatal Screening of 21 Microdeletion/Microduplication Syndromes and Subtelomeric Imbalances by MLPA in Fetuses with Increased Nuchal Translucency and Normal KaryotypeLaetitia Gouas, Stéphan Kémény, Anne-Marie Beaufrère, et al.
European Journal of Human Genetics : EJHG|July 18, 2013
An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3Céline Pebrel-Richard, Anne Debost-Legrand, Eléonore Eymard-Pierre, et al.
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