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Items: 1 to 50 of 68

1.

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.

Hum Mutat. 2019 Nov 15. doi: 10.1002/humu.23944. [Epub ahead of print]

PMID:
31730716
2.

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.

Circ Genom Precis Med. 2019 May;12(5):e002500. doi: 10.1161/CIRCGEN.119.002500. No abstract available.

3.

A Novel PITX2c Gain-of-Function Mutation, p.Met207Val, in Patients With Familial Atrial Fibrillation.

Mechakra A, Footz T, Walter M, Aránega A, Hernández-Torres F, Morel E, Millat G, Yang YQ, Chahine M, Chevalier P, Christé G.

Am J Cardiol. 2019 Mar 1;123(5):787-793. doi: 10.1016/j.amjcard.2018.11.047. Epub 2018 Dec 3.

PMID:
30558760
4.

Clinical management and viral genomic diversity analysis of a child's influenza A(H1N1)pdm09 infection in the context of a severe combined immunodeficiency.

Pichon M, Picard C, Simon B, Gaymard A, Renard C, Massenavette B, Malcus C, Monneret G, Morfin-Sherpa F, Valette M, Javouhey E, Millat G, Lina B, Josset L, Escuret V.

Antiviral Res. 2018 Dec;160:1-9. doi: 10.1016/j.antiviral.2018.10.009. Epub 2018 Oct 11.

PMID:
30315875
5.

Atrial Structural Remodeling Gene Variants in Patients with Atrial Fibrillation.

Doñate Puertas R, Millat G, Ernens I, Gache V, Chauveau S, Morel E, Christin E, Couturier N, Devaux Y, Chevalier P.

Biomed Res Int. 2018 Sep 10;2018:4862480. doi: 10.1155/2018/4862480. eCollection 2018.

6.

TRPM4 mutations to cause autosomal recessive and not autosomal dominant Brugada type 1 syndrome.

Janin A, Bessière F, Georgescu T, Chanavat V, Chevalier P, Millat G.

Eur J Med Genet. 2019 Jun;62(6):103527. doi: 10.1016/j.ejmg.2018.08.008. Epub 2018 Aug 22.

PMID:
30142439
7.

First identification of homozygous truncating CSRP3 variants in two unrelated cases with hypertrophic cardiomyopathy.

Janin A, Bessière F, Chauveau S, Chevalier P, Millat G.

Gene. 2018 Nov 15;676:110-116. doi: 10.1016/j.gene.2018.07.036. Epub 2018 Jul 17.

PMID:
30012424
8.

Cardiac voltage-gated sodium channel mutations associated with left atrial dysfunction and stroke in children.

Moreau A, Janin A, Millat G, Chevalier P.

Europace. 2018 Oct 1;20(10):1692-1698. doi: 10.1093/europace/euy041.

PMID:
29579189
9.

Single, short in-del, and copy number variations detection in monogenic dyslipidemia using a next-generation sequencing strategy.

Marmontel O, Charrière S, Simonet T, Bonnet V, Dumont S, Mahl M, Jacobs C, Nony S, Chabane K, Bozon D, Janin A, Peretti N, Lachaux A, Bardel C, Millat G, Moulin P, Marçais C, Di Filippo M.

Clin Genet. 2018 Jul;94(1):132-140. doi: 10.1111/cge.13250. Epub 2018 Apr 25.

PMID:
29572815
10.

A Novel Missense Mutation p.Gly162Glu of the Gene MYL2 Involved in Hypertrophic Cardiomyopathy: A Pedigree Analysis of a Proband.

Renaudin P, Janin A, Millat G, Chevalier P.

Mol Diagn Ther. 2018 Apr;22(2):219-223. doi: 10.1007/s40291-018-0324-1.

PMID:
29549657
11.

Early repolarization syndrome caused by de novo duplication of KCND3 detected by next-generation sequencing.

Chauveau S, Janin A, Till M, Morel E, Chevalier P, Millat G.

HeartRhythm Case Rep. 2017 Oct 20;3(12):574-578. doi: 10.1016/j.hrcr.2017.08.003. eCollection 2017 Dec. No abstract available.

12.

Nuclear envelopathies: a complex LINC between nuclear envelope and pathology.

Janin A, Bauer D, Ratti F, Millat G, Méjat A.

Orphanet J Rare Dis. 2017 Aug 30;12(1):147. doi: 10.1186/s13023-017-0698-x. Review.

13.

Characterization of oseltamivir-resistant influenza virus populations in immunosuppressed patients using digital-droplet PCR: Comparison with qPCR and next generation sequencing analysis.

Pichon M, Gaymard A, Josset L, Valette M, Millat G, Lina B, Escuret V.

Antiviral Res. 2017 Sep;145:160-167. doi: 10.1016/j.antiviral.2017.07.021. Epub 2017 Aug 3.

PMID:
28780426
14.

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.

Clin Genet. 2017 Dec;92(6):616-623. doi: 10.1111/cge.13043. Epub 2017 May 18.

PMID:
28436997
15.

TRPM4 non-selective cation channel variants in long QT syndrome.

Hof T, Liu H, Sallé L, Schott JJ, Ducreux C, Millat G, Chevalier P, Probst V, Guinamard R, Bouvagnet P.

BMC Med Genet. 2017 Mar 18;18(1):31. doi: 10.1186/s12881-017-0397-4.

16.

Remotely sensing the German Wadden Sea-a new approach to address national and international environmental legislation.

Müller G, Stelzer K, Smollich S, Gade M, Adolph W, Melchionna S, Kemme L, Geißler J, Millat G, Reimers HC, Kohlus J, Eskildsen K.

Environ Monit Assess. 2016 Oct;188(10):595. Epub 2016 Sep 28.

PMID:
27681444
17.

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.

Clin Genet. 2017 Jan;91(1):126-130. doi: 10.1111/cge.12780. Epub 2016 Apr 26.

PMID:
27030002
18.

A fast and cost-effective molecular diagnostic tool for genetic diseases involved in sudden cardiac death.

Chanavat V, Janin A, Millat G.

Clin Chim Acta. 2016 Jan 30;453:80-5. doi: 10.1016/j.cca.2015.12.011. Epub 2015 Dec 10.

PMID:
26688388
19.

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.

Eur J Med Genet. 2015 Sep;58(9):439-42. doi: 10.1016/j.ejmg.2015.06.004. Epub 2015 Jul 21.

PMID:
26206080
20.

Functional characterization of putative novel splicing mutations in the cardiomyopathy-causing genes.

Millat G, Lafont E, Nony S, Rouvet I, Bozon D.

DNA Cell Biol. 2015 Jul;34(7):489-96. doi: 10.1089/dna.2015.2842. Epub 2015 Apr 7.

PMID:
25849606
21.

Authors' response to the letter to the editor "Left ventricular noncompaction associated with a compound heterozygous MYBPC3 mutation".

Schaefer E, Millat G.

Eur J Med Genet. 2014 Jul;57(7):350-1. doi: 10.1016/j.ejmg.2014.04.008. Epub 2014 May 14. No abstract available.

PMID:
24830826
22.

Evaluation of a new NGS method based on a custom AmpliSeq library and Ion Torrent PGM sequencing for the fast detection of genetic variations in cardiomyopathies.

Millat G, Chanavat V, Rousson R.

Clin Chim Acta. 2014 Jun 10;433:266-71. doi: 10.1016/j.cca.2014.03.032. Epub 2014 Apr 8.

PMID:
24721642
24.

[KCNH2 gene new mutation in a patient with prior diagnosis of epilepsy].

Chanséaume A, Millat G, Roux A.

Rev Neurol (Paris). 2014 Apr;170(4):304-5. doi: 10.1016/j.neurol.2013.12.006. Epub 2014 Mar 26. French. No abstract available.

PMID:
24679481
25.

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.

Eur J Med Genet. 2014 Mar;57(4):129-32. doi: 10.1016/j.ejmg.2014.02.015. Epub 2014 Mar 4.

PMID:
24602869
26.

The variant hERG/R148W associated with LQTS is a mutation that reduces current density on co-expression with the WT.

Mechakra A, Vincent Y, Chevalier P, Millat G, Ficker E, Jastrzebski M, Poulin H, Pouliot V, Chahine M, Christé G.

Gene. 2014 Feb 25;536(2):348-56. doi: 10.1016/j.gene.2013.11.072. Epub 2013 Dec 12.

PMID:
24334129
27.

Molecular genetics and functional anomalies in a series of 248 Brugada cases with 11 mutations in the TRPM4 channel.

Liu H, Chatel S, Simard C, Syam N, Salle L, Probst V, Morel J, Millat G, Lopez M, Abriel H, Schott JJ, Guinamard R, Bouvagnet P.

PLoS One. 2013;8(1):e54131. doi: 10.1371/journal.pone.0054131. Epub 2013 Jan 30.

28.

A human MYBPC3 mutation appearing about 10 centuries ago results in a hypertrophic cardiomyopathy with delayed onset, moderate evolution but with a risk of sudden death.

Teirlinck CH, Senni F, Malti RE, Majoor-Krakauer D, Fellmann F, Millat G, André-Fouët X, Pernot F, Stumpf M, Boutarin J, Bouvagnet P.

BMC Med Genet. 2012 Nov 10;13:105. doi: 10.1186/1471-2350-13-105.

29.

[Cardiac sinus node dysfunction due to a new mutation of the SCN5A gene].

Selly JB, Boumahni B, Edmar A, Jamal Bey K, Randrianaivo H, Clerici G, Millat G, Caillet D.

Arch Pediatr. 2012 Aug;19(8):837-41. doi: 10.1016/j.arcped.2012.04.017. Epub 2012 Jul 12. French.

PMID:
22795782
30.

Molecular characterization of a large MYBPC3 rearrangement in a cohort of 100 unrelated patients with hypertrophic cardiomyopathy.

Chanavat V, Seronde MF, Bouvagnet P, Chevalier P, Rousson R, Millat G.

Eur J Med Genet. 2012 Mar;55(3):163-6. doi: 10.1016/j.ejmg.2012.01.002. Epub 2012 Jan 21.

PMID:
22314326
31.

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.

Eur J Med Genet. 2011 Nov-Dec;54(6):e570-5. doi: 10.1016/j.ejmg.2011.07.005. Epub 2011 Aug 4.

PMID:
21846512
32.

[Fabry disease among hypertrophic cardiomyopathy of genetic origin].

Bouvagnet P, Millat G, Rousson R, Gilbert G, Derumeaux G.

Rev Med Interne. 2010 Dec;31 Suppl 2:S233-7. doi: 10.1016/S0248-8663(10)70019-9. French.

PMID:
21211671
33.

Development of a high resolution melting method for the detection of genetic variations in Long QT Syndrome.

Millat G, Chanavat V, Créhalet H, Rousson R.

Clin Chim Acta. 2011 Jan 14;412(1-2):203-7. doi: 10.1016/j.cca.2010.09.013. Epub 2010 Sep 17.

PMID:
20851114
34.

Development of a high resolution melting method for the detection of genetic variations in hypertrophic cardiomyopathy.

Millat G, Chanavat V, Créhalet H, Rousson R.

Clin Chim Acta. 2010 Dec 14;411(23-24):1983-91. doi: 10.1016/j.cca.2010.08.017. Epub 2010 Aug 26.

PMID:
20800588
35.

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.

Eur J Med Genet. 2010 Sep-Oct;53(5):261-7. doi: 10.1016/j.ejmg.2010.07.007. Epub 2010 Jul 30.

PMID:
20624503
36.

U1 snRNA mis-binding: a new cause of CMT1B.

Crehalet H, Latour P, Bonnet V, Attarian S, Labauge P, Bonello N, Bernard R, Millat G, Rousson R, Bozon D.

Neurogenetics. 2010 Feb;11(1):13-9. doi: 10.1007/s10048-009-0199-8. Epub 2009 May 28.

PMID:
19475438
37.

Contribution of long-QT syndrome genetic variants in sudden infant death syndrome.

Millat G, Kugener B, Chevalier P, Chahine M, Huang H, Malicier D, Rodriguez-Lafrasse C, Rousson R.

Pediatr Cardiol. 2009 May;30(4):502-9. doi: 10.1007/s00246-009-9417-2. Epub 2009 Mar 26.

PMID:
19322600
38.

Validation of high-resolution DNA melting analysis for mutation scanning of the LMNA gene.

Millat G, Chanavat V, Julia S, Crehalet H, Bouvagnet P, Rousson R.

Clin Biochem. 2009 Jun;42(9):892-8. doi: 10.1016/j.clinbiochem.2009.01.016. Epub 2009 Feb 6.

PMID:
19318026
39.

Biophysical characterization of a new SCN5A mutation S1333Y in a SIDS infant linked to long QT syndrome.

Huang H, Millat G, Rodriguez-Lafrasse C, Rousson R, Kugener B, Chevalier P, Chahine M.

FEBS Lett. 2009 Mar 4;583(5):890-6. doi: 10.1016/j.febslet.2009.02.007. Epub 2009 Feb 10.

40.

Rapid, sensitive and inexpensive detection of SCN5A genetic variations by high resolution melting analysis.

Millat G, Chanavat V, Rodriguez-Lafrasse C, Rousson R.

Clin Biochem. 2009 Apr;42(6):491-9. doi: 10.1016/j.clinbiochem.2008.10.014. Epub 2008 Nov 6.

PMID:
19026623
41.

A new C-terminal hERG mutation A915fs+47X associated with symptomatic LQT2 and auditory-trigger syncope.

Christé G, Thériault O, Chahine M, Millat G, Rodriguez-Lafrasse C, Rousson R, Deschênes I, Ficker E, Chevalier P.

Heart Rhythm. 2008 Nov;5(11):1577-86. doi: 10.1016/j.hrthm.2008.08.031. Epub 2008 Aug 31.

42.

A de novo mutation of the beta cardiac myosin heavy chain gene in an infantile restrictive cardiomyopathy.

Karam S, Raboisson MJ, Ducreux C, Chalabreysse L, Millat G, Bozio A, Bouvagnet P.

Congenit Heart Dis. 2008 Mar-Apr;3(2):138-43. doi: 10.1111/j.1747-0803.2008.00165.x.

PMID:
18380764
43.

Non-neuronopathic Gaucher disease due to saposin C deficiency.

Tylki-Szymańska A, Czartoryska B, Vanier MT, Poorthuis BJ, Groener JA, Ługowska A, Millat G, Vaccaro AM, Jurkiewicz E.

Clin Genet. 2007 Dec;72(6):538-42. Epub 2007 Oct 7.

PMID:
17919309
44.

Niemann-Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2.

Verot L, Chikh K, Freydière E, Honoré R, Vanier MT, Millat G.

Clin Genet. 2007 Apr;71(4):320-30.

PMID:
17470133
45.

Spatiotemporal electrocardiographic characterization of ventricular depolarization and repolarization abnormalities in long QT syndrome.

Restier-Miron L, Fayn J, Millat G, Denjoy I, Rodriguez-Lafrasse C, Rubel P, Chevalier P.

J Electrocardiol. 2007 Oct;40(4):368-74. Epub 2007 Feb 20.

PMID:
17316676
46.

Torsades de pointes complicating atrioventricular block: evidence for a genetic predisposition.

Chevalier P, Bellocq C, Millat G, Piqueras E, Potet F, Schott JJ, Baró I, Lemarec H, Barhanin J, Rousson R, Rodriguez-Lafrasse C.

Heart Rhythm. 2007 Feb;4(2):170-4. Epub 2006 Oct 13.

PMID:
17275752
47.

The adult form of Niemann-Pick disease type C.

Sévin M, Lesca G, Baumann N, Millat G, Lyon-Caen O, Vanier MT, Sedel F.

Brain. 2007 Jan;130(Pt 1):120-33. Epub 2006 Sep 26. Review.

PMID:
17003072
48.

Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.

Millat G, Chevalier P, Restier-Miron L, Da Costa A, Bouvagnet P, Kugener B, Fayol L, Gonzàlez Armengod C, Oddou B, Chanavat V, Froidefond E, Perraudin R, Rousson R, Rodriguez-Lafrasse C.

Clin Genet. 2006 Sep;70(3):214-27.

PMID:
16922724
49.

Niemann-Pick type C disease in a 68-year-old patient.

Trendelenburg G, Vanier MT, Maza S, Millat G, Bohner G, Munz DL, Zschenderlein R.

J Neurol Neurosurg Psychiatry. 2006 Aug;77(8):997-8. No abstract available.

50.

[Long QT syndrome in children: analysis of the Lyon series].

Iraqi M, Chevalier P, Raboisson MJ, Bozio A, Bouvagnet P, Millat G, Rodriguez-Lafrasse C.

Arch Mal Coeur Vaiss. 2006 Feb;99(2):134-40. French.

PMID:
16555697

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