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Author/Creator Le Caignec, Cédric

1. 11q24.2q24.3 microdeletion in two families presenting features of Jacobsen syndrome, without intellectual disability: Role of FLI1, ETS1, and SENCR long noncoding RNA. Issue 6 (19th March 2019)

Authors:
Conrad, Solène; Demurger, Florence; Moradkhani, Kamran; Pichon, Olivier; Le Caignec, Cédric; Pascal, Cécile; Thomas, Caroline; Bayart, Sophie; Perlat, Antoinette; Dubourg, Christèle; Jaillard, Sylvie; Nizon, Mathilde
Journal:
American journal of medical genetics
Issue:
Volume 179:Issue 6(2019)
Page Start:
993
Record Type:
Journal Article
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2. A de novoADCY5 mutation causes early‐onset autosomal dominant chorea and dystonia. Issue 3 (27th December 2014)

Authors:
Carapito, Raphael; Paul, Nicodème; Untrau, Meiggie; Le Gentil, Marion; Ott, Louise; Alsaleh, Ghada; Jochem, Pierre; Radosavljevic, Mirjana; Le Caignec, Cédric; David, Albert; Damier, Philippe; Isidor, Bertrand; Bahram, Seiamak
Journal:
Movement disorders
Issue:
Volume 30:Issue 3(2015)
Page Start:
423
Record Type:
Journal Article
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3. A new form of severe spondyloepimetaphyseal dysplasia: Clinical and radiological characterization1. Issue 10 (16th August 2013)

Authors:
Isidor, Bertrand; Geffroy, Loïc; de Courtivron, Benoît; Le Caignec, Cédric; Thiel, Christian T.; Mortier, Geert; Cormier‐Daire, Valérie; David, Albert; Toutain, Annick
Journal:
American journal of medical genetics
Issue:
Volume 161:Issue 10(2013:Oct.)
Page Start:
2645
Record Type:
Journal Article
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4. Blepharophimosis, short humeri, developmental delay and hirschsprung disease: Expanding the phenotypic spectrum of MED12 mutations. Issue 7 (8th April 2014)

Authors:
Isidor, Bertrand; Lefebvre, Tiphaine; Le Vaillant, Claudine; Caillaud, Gaëlle; Faivre, Laurence; Jossic, Frédéric; Joubert, Madeleine; Winer, Norbert; Le Caignec, Cédric; Borck, Guntram; Pelet, Anna; Amiel, Jeanne; Toutain, Annick; Ronce, Nathalie; Raynaud, Martine; Verloes, Alain; David, Albert
Journal:
American journal of medical genetics
Issue:
Volume 164:Issue 7(2014.)
Page Start:
1821
Record Type:
Journal Article
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5. Congenital Heart Defects in Patients with Deletions Upstream of SOX9. Issue 12 (18th October 2013)

Authors:
Sanchez‐Castro, Marta; Gordon, Christopher T.; Petit, Florence; Nord, Alex S.; Callier, Patrick; Andrieux, Joris; Guérin, Patrice; Pichon, Olivier; David, Albert; Abadie, Véronique; Bonnet, Damien; Visel, Axel; Pennacchio, Len A.; Amiel, Jeanne; Lyonnet, Stanislas; Le Caignec, Cédric
Journal:
Human mutation
Issue:
Volume 34:Issue 12(2013:Dec.)
Page Start:
1628
Record Type:
Journal Article
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6. Constitutional telomeric association (Y;7) in a patient with a female phenotype. Issue 6 (23rd April 2013)

Authors:
Beneteau, Claire; Baron, Sabine; David, Albert; Jossic, Frédérique; Poulain, Damien; Schmitt, Sébastien; Leclair, Marc‐David; Piloquet, Philippe; Le Caignec, Cédric
Journal:
American journal of medical genetics
Issue:
Volume 161:Issue 6(2013:Jun.)
Page Start:
1436
Record Type:
Journal Article
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7. Estimating the effect size of the 15Q11.2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice. Issue 10 (26th August 2019)

Authors:
Jønch, Aia Elise; Douard, Elise; Moreau, Clara; Van Dijck, Anke; Passeggeri, Marzia; Kooy, Frank; Puechberty, Jacques; Campbell, Carolyn; Sanlaville, Damien; Lefroy, Henrietta; Richetin, Sonia; Pain, Aurelie; Geneviève, David; Kini, Usha; Le Caignec, Cédric; Lespinasse, James; Skytte, Anne-Bine; ...
Other Names:
author non-byline.; Andrieux Joris author non-byline.; Barnicoat Angela author non-byline.; Blanchet Patricia author non-byline.; Blesson Sophie author non-byline.; Bütschi Florence Niel author non-byline.; Campeau Philippe M author non-byline.; Chelloug Nora author non-byline.; Debray François-...
Journal:
Journal of medical genetics
Issue:
Volume 56:Issue 10(2019)
Page Start:
701
Record Type:
Journal Article
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8. Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations. Issue 1 (December 2015)

Authors:
Mercier, Sandra; Küry, Sébastien; Salort-Campana, Emmanuelle; Magot, Armelle; Agbim, Uchenna; Besnard, Thomas; Bodak, Nathalie; Bou-Hanna, Chantal; Bréhéret, Flora; Brunelle, Perrine; Caillon, Florence; Chabrol, Brigitte; Cormier-Daire, Valérie; David, Albert; Eymard, Bruno; Faivre, Laurence; Fig...
Journal:
Orphanet journal of rare diseases
Issue:
Volume 9:Issue 1(2014)
Page Start:
1
Record Type:
Journal Article
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9. First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients. Issue 5 (27th February 2022)

Authors:
Chesneau, Bertrand; Aubert‐Mucca, Marion; Fremont, Félix; Pechmeja, Jacmine; Soler, Vincent; Isidor, Bertrand; Nizon, Mathilde; Dollfus, Hélène; Kaplan, Josseline; Fares‐Taie, Lucas; Rozet, Jean‐Michel; Busa, Tiffany; Lacombe, Didier; Naudion, Sophie; Amiel, Jeanne; Rio, Marlène; Attie‐Bitach, Ta...
Journal:
Clinical genetics
Issue:
Volume 101:Issue 5/6(2022)
Page Start:
494
Record Type:
Journal Article
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10. GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila. Issue 8 (4th May 2013)

Authors:
Willemsen, Marjolein H; Nijhof, Bonnie; Fenckova, Michaela; Nillesen, Willy M; Bongers, Ernie M H F; Castells-Nobau, Anna; Asztalos, Lenke; Viragh, Erika; van Bon, Bregje W M; Tezel, Emre; Veltman, Joris A; Brunner, Han G; de Vries, Bert B A; de Ligt, Joep; Yntema, Helger G; van Bokhoven, Hans; I...
Journal:
Journal of medical genetics
Issue:
Volume 50:Issue 8(2013)
Page Start:
507
Record Type:
Journal Article
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