Millat G - Search Results

1

Cardiomyopathy due to PRDM16 mutation: First description of a fetal presentation, with possible modifier genes.

Delplancq G, Tarris G, Vitobello A, Nambot S, Sorlin A, Philippe C, Carmignac V, Duffourd Y, Denis C, Eicher JC, Chevarin M, Millat G, Khallouk B, Rousseau T, Falcon-Eicher S, Vasiljevic A, Harizay FT, Thauvin-Robinet C, Faivre L, Kuentz P. Delplancq G, et al. Among authors: millat g. Am J Med Genet C Semin Med Genet. 2020 Mar;184(1):129-135. doi: 10.1002/ajmg.c.31766. Epub 2020 Jan 22. Am J Med Genet C Semin Med Genet. 2020. PMID: 31965688

2

Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy.

Millat G, Bouvagnet P, Chevalier P, Dauphin C, Jouk PS, Da Costa A, Prieur F, Bresson JL, Faivre L, Eicher JC, Chassaing N, Crehalet H, Porcher R, Rodriguez-Lafrasse C, Rousson R. Millat G, et al. Eur J Med Genet. 2010 Sep-Oct;53(5):261-7. doi: 10.1016/j.ejmg.2010.07.007. Epub 2010 Jul 30. Eur J Med Genet. 2010. PMID: 20624503

3

Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy.

Millat G, Bouvagnet P, Chevalier P, Sebbag L, Dulac A, Dauphin C, Jouk PS, Delrue MA, Thambo JB, Le Metayer P, Seronde MF, Faivre L, Eicher JC, Rousson R. Millat G, et al. Eur J Med Genet. 2011 Nov-Dec;54(6):e570-5. doi: 10.1016/j.ejmg.2011.07.005. Epub 2011 Aug 4. Eur J Med Genet. 2011. PMID: 21846512

4

Next-generation sequencing (NGS) as a fast molecular diagnosis tool for left ventricular noncompaction in an infant with compound mutations in the MYBPC3 gene.

Schaefer E, Helms P, Marcellin L, Desprez P, Billaud P, Chanavat V, Rousson R, Millat G. Schaefer E, et al. Among authors: millat g. Eur J Med Genet. 2014 Mar;57(4):129-32. doi: 10.1016/j.ejmg.2014.02.015. Epub 2014 Mar 4. Eur J Med Genet. 2014. PMID: 24602869

5

HCN4 mutation as a molecular explanation on patients with bradycardia and non-compaction cardiomyopathy.

Millat G, Janin A, de Tauriac O, Roux A, Dauphin C. Millat G, et al. Eur J Med Genet. 2015 Sep;58(9):439-42. doi: 10.1016/j.ejmg.2015.06.004. Epub 2015 Jul 21. Eur J Med Genet. 2015. PMID: 26206080

6

Homozygous PKP2 deletion associated with neonatal left ventricle noncompaction.

Ramond F, Janin A, Di Filippo S, Chanavat V, Chalabreysse L, Roux-Buisson N, Sanlaville D, Touraine R, Millat G. Ramond F, et al. Among authors: millat g. Clin Genet. 2017 Jan;91(1):126-130. doi: 10.1111/cge.12780. Epub 2016 Apr 26. Clin Genet. 2017. PMID: 27030002

7

Truncating mutations on myofibrillar myopathies causing genes as prevalent molecular explanations on patients with dilated cardiomyopathy.

Janin A, N'Guyen K, Habib G, Dauphin C, Chanavat V, Bouvagnet P, Eschalier R, Streichenberger N, Chevalier P, Millat G. Janin A, et al. Among authors: millat g. Clin Genet. 2017 Dec;92(6):616-623. doi: 10.1111/cge.13043. Epub 2017 May 18. Clin Genet. 2017. PMID: 28436997

8

Whole Exome Sequencing Reveals a Large Genetic Heterogeneity and Revisits the Causes of Hypertrophic Cardiomyopathy.

Nguyen K, Roche S, Donal E, Odent S, Eicher JC, Faivre L, Millat G, Salgado D, Desvignes JP, Lavoute C, Haentjens J, Consolino É, Janin A, Cerino M, Réant P, Rooryck C, Charron P, Richard P, Casalta AC, Michel N, Magdinier F, Béroud C, Lévy N, Habib G. Nguyen K, et al. Among authors: millat g. Circ Genom Precis Med. 2019 May;12(5):e002500. doi: 10.1161/CIRCGEN.119.002500. Circ Genom Precis Med. 2019. PMID: 31112424 Free article. No abstract available.

9

Whole MYBPC3 NGS sequencing as a molecular strategy to improve the efficiency of molecular diagnosis of patients with hypertrophic cardiomyopathy.

Janin A, Chanavat V, Rollat-Farnier PA, Bardel C, Nguyen K, Chevalier P, Eicher JC, Faivre L, Piard J, Albert E, Nony S, Millat G. Janin A, et al. Among authors: millat g. Hum Mutat. 2020 Feb;41(2):465-475. doi: 10.1002/humu.23944. Epub 2019 Nov 15. Hum Mutat. 2020. PMID: 31730716

10

Characterization of Loss-Of-Function KCNJ2 Mutations in Atypical Andersen Tawil Syndrome.

Le Tanno P, Folacci M, Revilloud J, Faivre L, Laurent G, Pinson L, Amedro P, Millat G, Janin A, Vivaudou M, Roux-Buisson N, Fauré J. Le Tanno P, et al. Among authors: millat g. Front Genet. 2021 Nov 25;12:773177. doi: 10.3389/fgene.2021.773177. eCollection 2021. Front Genet. 2021. PMID: 34899860 Free PMC article.

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