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Author/Creator Chevarin, Martin

1. Cardiomyopathy due to PRDM16 mutation: First description of a fetal presentation, with possible modifier genes. Issue 1 (22nd January 2020)

Authors:
Delplancq, Geoffroy; Tarris, Georges; Vitobello, Antonio; Nambot, Sophie; Sorlin, Arthur; Philippe, Christophe; Carmignac, Virginie; Duffourd, Yannis; Denis, Charlotte; Eicher, Jean Christophe; Chevarin, Martin; Millat, Gilles; Khallouk, Bouchra; Rousseau, Thierry; Falcon‐Eicher, Sylvie; Vasiljev...
Other Names:
Kruszka Paul guestEditor.; Beaton Andrea guestEditor.
Journal:
American journal of medical genetics
Issue:
Volume 184:Issue 1(2020)
Page Start:
129
Record Type:
Journal Article
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2. First prenatal PI3K-AKT-mTOR pathway related overgrowth spectrum cohort: Phenotypic and molecular characterization. (March 2019)

Authors:
Bourgon, Nicolas; Kuentz, Paul; Carmignac, Virginie; Sorlin, Arthur; Duffourd, Yannis; Chevarin, Martin; Jouan, Thibaud; Thauvin, Christel; Vabres, Pierre; Olivier-Faivre, Laurence
Journal:
European journal of obstetrics, gynecology, and reproductive biology
Issue:
Volume 234(2019)
Page Start:
e169
Record Type:
Journal Article
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3. Neuropsychological study in 19 French patients with White‐Sutton syndrome and POGZ mutations. Issue 3 (15th December 2020)

Authors:
Garde, Aurore; Cornaton, Jenny; Sorlin, Arthur; Moutton, Sébastien; Nicolas, Claire; Juif, Christine; Geneviève, David; Perrin, Laurence; Khau‐Van‐Kien, Philippe; Smol, Thomas; Vincent‐Delorme, Catherine; Isidor, Bertrand; Cogné, Benjamin; Afenjar, Alexandra; Keren, Boris; Coubes, Christine; Prie...
Journal:
Clinical genetics
Issue:
Volume 99:Issue 3(2021)
Page Start:
407
Record Type:
Journal Article
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4. De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features. Issue 12 (14th May 2020)

Authors:
Lehalle, Daphné; Vabres, Pierre; Sorlin, Arthur; Bierhals, Tatjana; Avila, Magali; Carmignac, Virginie; Chevarin, Martin; Torti, Erin; Abe, Yuichi; Bartolomaeus, Tobias; Clayton-Smith, Jill; Cogné, Benjamin; Cusco, Ivon; Duplomb, Laurence; De Bont, Eveline; Duffourd, Yannis; Duijkers, Floor; Elpe...
Journal:
Journal of medical genetics
Issue:
Volume 57:Issue 12(2020)
Page Start:
808
Record Type:
Journal Article
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5. Interest of exome sequencing trio‐like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases. Issue 12 (30th October 2021)

Authors:
Tran Mau‐Them, Frederic; Duffourd, Yannis; Vitobello, Antonio; Bruel, Ange‐Line; Denommé‐Pichon, Anne‐Sophie; Nambot, Sophie; Delanne, Julian; Moutton, Sebastien; Sorlin, Arthur; Couturier, Victor; Bourgeois, Valentin; Chevarin, Martin; Poe, Charlotte; Mosca‐Boidron, Anne‐Laure; Callier, Patrick;...
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 9:Issue 12(2021)
Page Start:
n/a
Record Type:
Journal Article
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6. 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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