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Author/Creator Masurel-Paulet, Alice

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. 3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder. Issue 1 (16th October 2013)

Authors:
Thevenon, Julien; Callier, Patrick; Poquet, Hélène; Bache, Iben; Menten, Bjorn; Malan, Valérie; Cavaliere, Maria Luigia; Girod, Jean-Paul; Thauvin-Robinet, Christel; El Chehadeh, Salima; Pinoit, Jean-Michel; Huet, Frederic; Verges, Bruno; Petit, Jean-Michel; Mosca-Boidron, Anne-Laure; Marle, Nath...
Journal:
Journal of medical genetics
Issue:
Volume 51:Issue 1(2014)
Page Start:
21
Record Type:
Journal Article
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3. Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. Issue 11 (28th August 2014)

Authors:
Redin, Claire; Gérard, Bénédicte; Lauer, Julia; Herenger, Yvan; Muller, Jean; Quartier, Angélique; Masurel-Paulet, Alice; Willems, Marjolaine; Lesca, Gaétan; El-Chehadeh, Salima; Le Gras, Stéphanie; Vicaire, Serge; Philipps, Muriel; Dumas, Michaël; Geoffroy, Véronique; Feger, Claire; Haumesser, N...
Journal:
Journal of medical genetics
Issue:
Volume 51:Issue 11(2014)
Page Start:
724
Record Type:
Journal Article
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4. Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome. Issue 8 (23rd July 2010)

Authors:
El Chehadeh, Salima; Aral, Bernard; Gigot, Nadège; Thauvin-Robinet, Christel; Donzel, Anne; Delrue, Marie-Ange; Lacombe, Didier; David, Albert; Burglen, Lydie; Philip, Nicole; Moncla, Anne; Cormier-Daire, Valérie; Rio, Marlène; Edery, Patrick; Verloes, Alain; Bonneau, Dominique; Afenjar, Alexandr...
Journal:
Journal of medical genetics
Issue:
Volume 47:Issue 8(2010)
Page Start:
549
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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6. The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy. Issue 12 (25th October 2012)

Authors:
Courcet, Jean-Benoît; Faivre, Laurence; Malzac, Perrine; Masurel-Paulet, Alice; Lopez, Estelle; Callier, Patrick; Lambert, Laetitia; Lemesle, Martine; Thevenon, Julien; Gigot, Nadège; Duplomb, Laurence; Ragon, Clémence; Marle, Nathalie; Mosca-Boidron, Anne-Laure; Huet, Frédéric; Philippe, Christo...
Journal:
Journal of medical genetics
Issue:
Volume 49:Issue 12(2012)
Page Start:
731
Record Type:
Journal Article
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7. The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome. Issue 11 (17th February 2011)

Authors:
El Chehadeh-Djebbar, Salima; Faivre, Laurence; Moncla, Anne; Aral, Bernard; Missirian, Chantal; Popovici, Cornel; Rump, Patrick; Van Essen, Anthonie; Frances, Anne-Marie; Gigot, Nadège; Cusin, Veronica; Masurel-Paulet, Alice; Gueneau, Lucie; Payet, Muriel; Ragon, Clémence; Marle, Nathalie; Mosca-...
Journal:
Journal of medical genetics
Issue:
Volume 48:Issue 11(2011)
Page Start:
e1
Record Type:
Journal Article
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8. Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders. Issue 8 (28th March 2019)

Authors:
Schluth-Bolard, Caroline; Diguet, Flavie; Chatron, Nicolas; Rollat-Farnier, Pierre-Antoine; Bardel, Claire; Afenjar, Alexandra; Amblard, Florence; Amiel, Jeanne; Blesson, Sophie; Callier, Patrick; Capri, Yline; Collignon, Patrick; Cordier, Marie-Pierre; Coubes, Christine; Demeer, Benedicte; Chaus...
Journal:
Journal of medical genetics
Issue:
Volume 56:Issue 8(2019)
Page Start:
526
Record Type:
Journal Article
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