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Author/Creator Lopez, Estelle

1. Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes. Issue 6 (13th March 2017)

Authors:
Bruel, Ange-Line; Franco, Brunella; Duffourd, Yannis; Thevenon, Julien; Jego, Laurence; Lopez, Estelle; Deleuze, Jean-François; Doummar, Diane; Giles, Rachel H; Johnson, Colin A; Huynen, Martijn A; Chevrier, Véronique; Burglen, Lydie; Morleo, Manuela; Desguerres, Isabelle; Pierquin, Geneviève; Do...
Journal:
Journal of medical genetics
Issue:
Volume 54:Issue 6(2017)
Page Start:
371
Record Type:
Journal Article
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2. Functional and genetic analyses of ZYG11B provide evidences for its involvement in OAVS. Issue 10 (1st August 2020)

Authors:
Tingaud‐Sequeira, Angèle; Trimouille, Aurélien; Marlin, Sandrine; Lopez, Estelle; Berenguer, Marie; Gherbi, Souad; Arveiler, Benoit; Lacombe, Didier; Rooryck, Caroline
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 8:Issue 10(2020)
Page Start:
n/a
Record Type:
Journal Article
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3. In utero ultrasound diagnosis of corpus callosum agenesis leading to the identification of orofaciodigital type 1 syndrome in female fetuses. Issue 4 (28th November 2017)

Authors:
Alby, Caroline; Boutaud, Lucile; Bonnière, Maryse; Collardeau‐Frachon, Sophie; Guibaud, Laurent; Lopez, Estelle; Bruel, Ange‐Line; Aral, Bernard; Sonigo, Pascale; Roth, Philippe; Vibert‐Guigue, Claude; Castaigne, Vanina; Carbonne, Bruno; Joyé, Nicole; Faivre, Laurence; Cordier, Marie‐Pierre; Bern...
Journal:
Birth defects research
Issue:
Volume 110:Issue 4(2018)
Page Start:
382
Record Type:
Journal Article
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4. Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability. Issue 6 (12th June 2012)

Authors:
Thevenon, Julien; Lopez, Estelle; Keren, Boris; Heron, Delphine; Mignot, Cyril; Altuzarra, Cecilia; Béri-Dexheimer, Mylène; Bonnet, Céline; Magnin, Eloi; Burglen, Lydie; Minot, Delphine; Vigneron, Jacqueline; Morle, Sophie; Anheim, Mathieu; Charles, Perrine; Brice, Alexis; Gallagher, Louise; Amie...
Journal:
Journal of medical genetics
Issue:
Volume 49:Issue 6(2012)
Page Start:
400
Record Type:
Journal Article
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5. Mutations in MYT1, encoding the myelin transcription factor 1, are a rare cause of OAVS. Issue 11 (29th June 2016)

Authors:
Lopez, Estelle; Berenguer, Marie; Tingaud-Sequeira, Angèle; Marlin, Sandrine; Toutain, Annick; Denoyelle, Françoise; Picard, Arnaud; Charron, Sabine; Mathieu, Guilaine; de Belvalet, Harmony; Arveiler, Benoit; Babin, Patrick J; Lacombe, Didier; Rooryck, Caroline
Journal:
Journal of medical genetics
Issue:
Volume 53:Issue 11(2016)
Page Start:
752
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. Variants in CFTR untranslated regions are associated with congenital bilateral absence of the vas deferens. Issue 3 (23rd October 2010)

Authors:
Lopez, Estelle; Viart, Victoria; Guittard, Caroline; Templin, Carine; René, Céline; Méchin, Déborah; Georges, Marie Des; Claustres, Mireille; Romey-Chatelain, Marie-Catherine; Taulan, Magali
Journal:
Journal of medical genetics
Issue:
Volume 48:Issue 3(2011)
Page Start:
152
Record Type:
Journal Article
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