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Gain of function due to increased opening probability by two KCNQ5 pore variants causing developmental and epileptic encephalopathy.
Proc Natl Acad Sci U S A. 2022 Apr 12;119(15):e2116887119. doi: 10.1073/pnas.2116887119. Epub 2022 Apr 4.
Proc Natl Acad Sci U S A. 2022.
PMID: 35377796
Free PMC article.
Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.
Dimassi S, Labalme A, Ville D, Calender A, Mignot C, Boutry-Kryza N, de Bellescize J, Rivier-Ringenbach C, Bourel-Ponchel E, Cheillan D, Simonet T, Maincent K, Rossi M, Till M, Mougou-Zerelli S, Edery P, Saad A, Heron D, des Portes V, Sanlaville D, Lesca G.
Dimassi S, et al. Among authors: rivier ringenbach c.
Clin Genet. 2016 Feb;89(2):198-204. doi: 10.1111/cge.12636. Epub 2015 Jul 30.
Clin Genet. 2016.
PMID: 26138355
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GRM7-related disorder: five additional patients from three independent families and review of the literature.
Januel L, Chatron N, Rivier-Ringenbach C, Cabet S, Labalme A, Sahin Y, Darvish H, Kruer M, Bakhtiari S, Sanlaville D, de Sainte Agathe JM, Lesca G.
Januel L, et al. Among authors: rivier ringenbach c.
Eur J Med Genet. 2024 Feb;67:104893. doi: 10.1016/j.ejmg.2023.104893. Epub 2023 Dec 8.
Eur J Med Genet. 2024.
PMID: 38070825
Free article.
Review.
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Autosomal recessive primary microcephaly due to ASPM mutations: An update.
Létard P, Drunat S, Vial Y, Duerinckx S, Ernault A, Amram D, Arpin S, Bertoli M, Busa T, Ceulemans B, Desir J, Doco-Fenzy M, Elalaoui SC, Devriendt K, Faivre L, Francannet C, Geneviève D, Gérard M, Gitiaux C, Julia S, Lebon S, Lubala T, Mathieu-Dramard M, Maurey H, Metreau J, Nasserereddine S, Nizon M, Pierquin G, Pouvreau N, Rivier-Ringenbach C, Rossi M, Schaefer E, Sefiani A, Sigaudy S, Sznajer Y, Tunca Y, Guilmin Crepon S, Alberti C, Elmaleh-Bergès M, Benzacken B, Wollnick B, Woods CG, Rauch A, Abramowicz M, El Ghouzzi V, Gressens P, Verloes A, Passemard S.
Létard P, et al. Among authors: rivier ringenbach c.
Hum Mutat. 2018 Mar;39(3):319-332. doi: 10.1002/humu.23381. Epub 2018 Jan 16.
Hum Mutat. 2018.
PMID: 29243349
Free article.
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Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome.
Depienne C, Trouillard O, Gourfinkel-An I, Saint-Martin C, Bouteiller D, Graber D, Barthez-Carpentier MA, Gautier A, Villeneuve N, Dravet C, Livet MO, Rivier-Ringenbach C, Adam C, Dupont S, Baulac S, Héron D, Nabbout R, Leguern E.
Depienne C, et al. Among authors: rivier ringenbach c.
J Med Genet. 2010 Jun;47(6):404-10. doi: 10.1136/jmg.2009.074328.
J Med Genet. 2010.
PMID: 20522430
Free article.
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