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Author/Creator Vincent-Delorme, Catherine

1. Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features. Issue 6 (4th April 2018)

Authors:
Miguet, Marguerite; Faivre, Laurence; Amiel, Jeanne; Nizon, Mathilde; Touraine, Renaud; Prieur, Fabienne; Pasquier, Laurent; Lefebvre, Mathilde; Thevenon, Julien; Dubourg, Christèle; Julia, Sophie; Sarret, Catherine; Remerand, Ganaëlle; Francannet, Christine; Laffargue, Fanny; Boespflug-Tanguy, O...
Journal:
Journal of medical genetics
Issue:
Volume 55:Issue 6(2018)
Page Start:
359
Record Type:
Journal Article
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2. Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model. Issue 3 (20th July 2021)

Authors:
Jurkute, Neringa; Bertacchi, Michele; Arno, Gavin; Tocco, Chiara; Kim, Ungsoo Samuel; Kruszewski, Adam M; Avery, Robert A; Bedoukian, Emma C; Han, Jinu; Ahn, Sung Jun; Pontikos, Nikolas; Acheson, James; Davagnanam, Indran; Bowman, Richard; Kaliakatsos, Marios; Gardham, Alice; Wakeling, Emma; Oluo...
Journal:
Brain communications
Issue:
Volume 3:Issue 3(2021)
Page Start:
Record Type:
Journal Article
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3. Phenotypic and genetic spectrum of alveolar capillary dysplasia: a retrospective cohort study. Issue 4 (22nd October 2019)

Authors:
Jourdan-Voyen, Laurélia; Touraine, Renaud; Masutti, Jean-Pierre; Busa, Tiffany; Vincent-Delorme, Catherine; Dreyfus, Lelia; Molin, Arnaud; Savey, Baptiste; Mounzer, Abraham; Assaf, Ziad; Atallah, Veronique; da Cruz, Vanessa; Gaillard, Dominique; Leroy-Terquem, Elise; Mouton, Jean-Baptiste; Ghoumi...
Journal:
Archives of disease in childhood
Issue:
Volume 105:Issue 4(2020)
Page Start:
387
Record Type:
Journal Article
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4. Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita. Issue 6 (5th April 2021)

Authors:
Laquerriere, Annie; Jaber, Dana; Abiusi, Emanuela; Maluenda, Jérome; Mejlachowicz, Dan; Vivanti, Alexandre; Dieterich, Klaus; Stoeva, Radka; Quevarec, Loic; Nolent, Flora; Biancalana, Valerie; Latour, Philippe; Sternberg, Damien; Capri, Yline; Verloes, Alain; Bessieres, Bettina; Loeuillet, Lauren...
Journal:
Journal of medical genetics
Issue:
Volume 59:Issue 6(2022)
Page Start:
559
Record Type:
Journal Article
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5. 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
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