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Author/Creator Gueneau, Lucie

1. A novel genetic variant in the transcription factor Islet‐1 exerts gain of function on myocyte enhancer factor 2C promoter activity. (March 2013)

Authors:
Friedrich, Felix W.; Dilanian, Gilles; Khattar, Patricia; Juhr, Denise; Gueneau, Lucie; Charron, Philippe; Fressart, Véronique; Vilquin, Jean‐Thomas; Isnard, Richard; Gouya, Laurent; Richard, Pascale; Hammoudi, Naima; Komajda, Michel; Bonne, Gisèle; Eschenhagen, Thomas; Dubourg, Olivier; Villard,...
Journal:
European journal of heart failure
Issue:
Volume 15:Number 3(2013)
Page Start:
267
Record Type:
Journal Article
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2. Additional evidence to support the role of the 20q13.33 region in susceptibility to autism. Issue 6 (23rd April 2013)

Authors:
Mosca‐Boidron, Anne‐Laure; Valduga, Mylène; Thauvin‐Robinet, Christel; Lagarde, Nathalie; Marle, Nathalie; Henry, Céline; Pinoit, Jean‐Michel; Huet, Frédéric; Béri‐Deixheimer, Mylène; Ragon, Clémence; Gueneau, Lucie; Payet, Muriel; Callier, Patrick; Mugneret, Francine; Jonveaux, Philippe; Faivre,...
Journal:
American journal of medical genetics
Issue:
Volume 161:Issue 6(2013:Jun.)
Page Start:
1505
Record Type:
Journal Article
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3. Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS13B mutations. Issue 2 (5th December 2013)

Authors:
Gueneau, Lucie; Duplomb, Laurence; Sarda, Pierre; Hamel, Christian; Aral, Bernard; Chehadeh, Salima El; Gigot, Nadège; St‐Onge, Judith; Callier, Patrick; Thevenon, Julien; Huet, Frédéric; Carmignac, Virginie; Droin, Nathalie; Faivre, Laurence; Thauvin‐Robinet, Christel
Journal:
American journal of medical genetics
Issue:
Volume 164:Issue 2(2014.)
Page Start:
522
Record Type:
Journal Article
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5. Pathogenic homozygous variant in POMK gene is the cause of prenatally detected severe ventriculomegaly in two Lithuanian families. Issue 3 (12th December 2019)

Authors:
Preiksaitiene, Egle; Voisin, Norine; Gueneau, Lucie; Benušienė, Eglė; Krasovskaja, Natalija; Blažytė, Evelina Marija; Ambrozaitytė, Laima; Rančelis, Tautvydas; Reymond, Alexandre; Kučinskas, Vaidutis
Journal:
American journal of medical genetics
Issue:
Volume 182:Issue 3(2020)
Page Start:
536
Record Type:
Journal Article
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6. Prenatal cerebral imaging features of a new syndromic entity related to KIAA1109 pathogenic variants mimicking tubulinopathy. (5th December 2019)

Authors:
Cabet, Sara; Putoux, Audrey; Buenerd, Annie; Gueneau, Lucie; Reymond, Alexandre; Thia, Edwin W.H.; Lai, Angeline H.M.; Schindewolf, Erica M.; Sanlaville, Damien; Lesca, Gaetan; Guibaud, Laurent
Journal:
Prenatal diagnosis
Issue:
Volume 40:Number 2(2020)
Page Start:
276
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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