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Author/Creator Boute-Benejean, Odile

1. 16p13.11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlations. Issue 5 (4th October 2018)

Authors:
Allach El Khattabi, Laïla; Heide, Solveig; Caberg, Jean-Hubert; Andrieux, Joris; Doco Fenzy, Martine; Vincent-Delorme, Caroline; Callier, Patrick; Chantot-Bastaraud, Sandra; Afenjar, Alexandra; Boute-Benejean, Odile; Cordier, Marie Pierre; Faivre, Laurence; Francannet, Christine; Gerard, Marion; ...
Journal:
Journal of medical genetics
Issue:
Volume 57:Issue 5(2020)
Page Start:
301
Record Type:
Journal Article
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2. EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia. Issue 12 (27th November 2012)

Authors:
Gordon, Christopher T; Petit, Florence; Oufadem, Myriam; Decaestecker, Charles; Jourdain, Anne-Sophie; Andrieux, Joris; Malan, Valérie; Alessandri, Jean-Luc; Baujat, Geneviève; Baumann, Clarisse; Boute-Benejean, Odile; Caumes, Roseline; Delobel, Bruno; Dieterich, Klaus; Gaillard, Dominique; Gonza...
Journal:
Journal of medical genetics
Issue:
Volume 49:Issue 12(2012)
Page Start:
737
Record Type:
Journal Article
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3. Non-classic cytochrome P450 oxidoreductase deficiency strongly linked with menstrual cycle disorders and female infertility as primary manifestations. Issue 4 (3rd April 2020)

Authors:
Papadakis, Georgios E; Dumont, Agathe; Bouligand, Jerome; Chasseloup, Fanny; Raggi, Anna; Catteau-Jonard, Sophie; Boute-Benejean, Odile; Pitteloud, Nelly; Young, Jacques; Dewailly, Didier
Journal:
Human reproduction
Issue:
Volume 35:Issue 4(2020)
Page Start:
939
Record Type:
Journal Article
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4. STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability. Issue 7 (24th January 2017)

Authors:
Lehalle, Daphné; Mosca-Boidron, Anne-Laure; Begtrup, Amber; Boute-Benejean, Odile; Charles, Perrine; Cho, Megan T; Clarkson, Amanda; Devinsky, Orrin; Duffourd, Yannis; Duplomb-Jego, Laurence; Gérard, Bénédicte; Jacquette, Aurélia; Kuentz, Paul; Masurel-Paulet, Alice; McDougall, Carey; Moutton, Sé...
Journal:
Journal of medical genetics
Issue:
Volume 54:Issue 7(2017)
Page Start:
479
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗