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Author/Creator Collignon, Patrick

1. CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders. Issue 4 (1st February 2013)

Authors:
Thauvin-Robinet, Christel; Munck, Anne; Huet, Frédéric; de Becdelièvre, Alix; Jimenez, Clément; Lalau, Guy; Gautier, Elodie; Rollet, Jacques; Flori, Jean; Nové-Josserand, Raphaëlle; Soufir, Jean-Claude; Haloun, Alain; Hubert, Dominique; Houssin, Elise; Bellis, Gil; Rault, Gilles; David, Albert; J...
Other Names:
Bazin A author non-byline.; Blayau M author non-byline.; Bonnefont JP author non-byline.; Bouligand J author non-byline.; Chéry M author non-byline.; Chevalier-Porst F author non-byline.; Costa JM author non-byline.; Coude M author non-byline.; Creveaux I author non-byline.; Dalstein V author non...
Journal:
Journal of medical genetics
Issue:
Volume 50:Issue 4(2013)
Page Start:
220
Record Type:
Journal Article
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2. Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability. Issue 7 (10th April 2020)

Authors:
Chevarin, Martin; Duffourd, Yannis; A. Barnard, Rebecca; Moutton, Sébastien; Lecoquierre, François; Daoud, Fatma; Kuentz, Paul; Cabret, Caroline; Thevenon, Julien; Gautier, Elodie; Callier, Patrick; St-Onge, Judith; Jouan, Thibaud; Lacombe, Didier; Delrue, Marie Ange; Goizet, Cyril; Morice-Picard...
Journal:
Journal of medical genetics
Issue:
Volume 57:Issue 7(2020)
Page Start:
466
Record Type:
Journal Article
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3. Mini‐Exome Coupled to Read‐Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias. Issue 12 (2nd September 2016)

Authors:
Marelli, Cecilia; Guissart, Claire; Hubsch, Cecile; Renaud, Mathilde; Villemin, Jean‐Philippe; Larrieu, Lise; Charles, Perrine; Ayrignac, Xavier; Sacconi, Sabrina; Collignon, Patrick; Cuntz‐Shadfar, Danielle; Perrin, Laurine; Benarrosh, Anelia; Degardin, Adrian; Lagha‐Boukbiza, Ouhaïd; Mutez, Eug...
Journal:
Human mutation
Issue:
Volume 37:Issue 12(2016)
Page Start:
1340
Record Type:
Journal Article
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4. Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma. Issue 4 (12th March 2011)

Authors:
Gardie, Betty; Remenieras, Audrey; Kattygnarath, Darouna; Bombled, Johny; Lefèvre, Sandrine; Perrier-Trudova, Victoria; Rustin, Pierre; Barrois, Michel; Slama, Abdelhamid; Avril, Marie-Françoise; Bessis, Didier; Caron, Olivier; Caux, Frédéric; Collignon, Patrick; Coupier, Isabelle; Cremin, Carol;...
Journal:
Journal of medical genetics
Issue:
Volume 48:Issue 4(2011)
Page Start:
226
Record Type:
Journal Article
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5. 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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Available online (eLD content is only available in our Reading Rooms) ↗