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Items: 32

1.

In utero seizures revealing dentato-olivary dysplasia caused by SCN2A mutation.

Sauvestre F, Moutton S, Badens C, Broussin B, Carles D, Houcinat N, Lacoste C, Marguet F, Pecheux C, Villard L, Pelluard F, Laquerrière A, André G.

Neuropathol Appl Neurobiol. 2017 Dec;43(7):631-635. doi: 10.1111/nan.12409. Epub 2017 Jun 9. No abstract available.

PMID:
28489313
2.

[Next-generation DNA sequencing in clinical diagnostics].

Lacoste C, Fabre A, Pécheux C, Lévy N, Krahn M, Malzac P, Bonello-Palot N, Badens C, Bourgeois P.

Arch Pediatr. 2017 Apr;24(4):373-383. doi: 10.1016/j.arcped.2017.01.008. Epub 2017 Feb 24. Review. French.

PMID:
28242148
3.

Coverage Analysis of Lists of Genes involved in Heterogeneous Genetic Diseases following Benchtop Exome Sequencing using the Ion Proton.

Lacoste C, Desvignes JP, Salgado D, Pecheux C, Villard L, Bartoli M, Beroud C, Levy N, Badens C, Krahn M.

J Genet. 2016 Mar;95(1):203-8. No abstract available.

4.

Rhinal hypometabolism on FDG PET in healthy APO-E4 carriers: impact on memory function and metabolic networks.

Didic M, Felician O, Gour N, Bernard R, Pécheux C, Mundler O, Ceccaldi M, Guedj E.

Eur J Nucl Med Mol Imaging. 2015 Sep;42(10):1512-21. doi: 10.1007/s00259-015-3057-y. Epub 2015 Apr 22.

PMID:
25900275
5.

Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy.

Xi J, Blandin G, Lu J, Luo S, Zhu W, Béroud C, Pécheux C, Labelle V, Lévy N, Urtizberea JA, Zhao C, Krahn M.

Neurol India. 2014 Nov-Dec;62(6):635-9. doi: 10.4103/0028-3886.149386.

6.

Validation of comparative genomic hybridization arrays for the detection of genomic rearrangements of the calpain-3 and dysferlin genes.

Bartoli M, Nègre P, Wein N, Bourgeois P, Pécheux C, Lévy N, Krahn M.

Clin Genet. 2012 Jan;81(1):99-101. doi: 10.1111/j.1399-0004.2011.01708.x. No abstract available.

PMID:
22150418
7.

A novel CRYAB mutation resulting in multisystemic disease.

Sacconi S, Féasson L, Antoine JC, Pécheux C, Bernard R, Cobo AM, Casarin A, Salviati L, Desnuelle C, Urtizberea A.

Neuromuscul Disord. 2012 Jan;22(1):66-72. doi: 10.1016/j.nmd.2011.07.004. Epub 2011 Sep 14.

PMID:
21920752
8.

Eosinophilic infiltration related to CAPN3 mutations: a pathophysiological component of primary calpainopathy?

Krahn M, Goicoechea M, Hanisch F, Groen E, Bartoli M, Pécheux C, Garcia-Bragado F, Leturcq F, Jeannet PY, Lobrinus JA, Jacquemont S, Strober J, Urtizberea JA, Saenz A, Bushby K, Lévy N, Lopez de Munain A.

Clin Genet. 2011 Oct;80(4):398-402. doi: 10.1111/j.1399-0004.2010.01620.x. No abstract available.

PMID:
21204801
9.

A naturally occurring human minidysferlin protein repairs sarcolemmal lesions in a mouse model of dysferlinopathy.

Krahn M, Wein N, Bartoli M, Lostal W, Courrier S, Bourg-Alibert N, Nguyen K, Vial C, Streichenberger N, Labelle V, DePetris D, Pécheux C, Leturcq F, Cau P, Richard I, Lévy N.

Sci Transl Med. 2010 Sep 22;2(50):50ra69. doi: 10.1126/scitranslmed.3000951.

10.

Identification of different genomic deletions and one duplication in the dysferlin gene using multiplex ligation-dependent probe amplification and genomic quantitative PCR.

Krahn M, Borges A, Navarro C, Schuit R, Stojkovic T, Torrente Y, Wein N, Pécheux C, Lévy N.

Genet Test Mol Biomarkers. 2009 Aug;13(4):439-42. doi: 10.1089/gtmb.2009.0010.

PMID:
19594366
11.

[Distal myopathy due to mutations of GNE gene: clinical spectrum and diagnosis].

Béhin A, Dubourg O, Laforêt P, Pêcheux C, Bernard R, Lévy N, Eymard B.

Rev Neurol (Paris). 2008 May;164(5):434-43. doi: 10.1016/j.neurol.2008.02.040. Epub 2008 Apr 15. French.

PMID:
18555875
12.

Transcriptional explorations of CAPN3 identify novel splicing mutations, a large-sized genomic deletion and evidence for messenger RNA decay.

Krahn M, Pécheux C, Chapon F, Béroud C, Drouin-Garraud V, Laforet P, Romero NB, Penisson-Besnier I, Bernard R, Urtizberea JA, Leturcq F, Lévy N.

Clin Genet. 2007 Dec;72(6):582-92. Epub 2007 Nov 1.

PMID:
17979987
13.

Screening of the CAPN3 gene in patients with possible LGMD2A.

Krahn M, Bernard R, Pecheux C, Hammouda el H, Eymard B, Lopez de Munain A, Cobo AM, Romero N, Urtizberea A, Leturcq F, Levy N; Calpain Study Group of the French LGMD Network.

Clin Genet. 2006 May;69(5):444-9. No abstract available.

PMID:
16650086
14.

CAPN3 mutations in patients with idiopathic eosinophilic myositis.

Krahn M, Lopez de Munain A, Streichenberger N, Bernard R, Pécheux C, Testard H, Pena-Segura JL, Yoldi E, Cabello A, Romero NB, Poza JJ, Bouillot-Eimer S, Ferrer X, Goicoechea M, Garcia-Bragado F, Leturcq F, Urtizberea JA, Lévy N.

Ann Neurol. 2006 Jun;59(6):905-11.

PMID:
16607617
15.

Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2).

Albuisson J, Pêcheux C, Carel JC, Lacombe D, Leheup B, Lapuzina P, Bouchard P, Legius E, Matthijs G, Wasniewska M, Delpech M, Young J, Hardelin JP, Dodé C.

Hum Mutat. 2005 Jan;25(1):98-9.

PMID:
15605412
16.

X chromosome-linked Kallmann syndrome: clinical heterogeneity in three siblings carrying an intragenic deletion of the KAL-1 gene.

Massin N, Pêcheux C, Eloit C, Bensimon JL, Galey J, Kuttenn F, Hardelin JP, Dodé C, Touraine P.

J Clin Endocrinol Metab. 2003 May;88(5):2003-8.

PMID:
12727945
17.

Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.

Dodé C, Levilliers J, Dupont JM, De Paepe A, Le Dû N, Soussi-Yanicostas N, Coimbra RS, Delmaghani S, Compain-Nouaille S, Baverel F, Pêcheux C, Le Tessier D, Cruaud C, Delpech M, Speleman F, Vermeulen S, Amalfitano A, Bachelot Y, Bouchard P, Cabrol S, Carel JC, Delemarre-van de Waal H, Goulet-Salmon B, Kottler ML, Richard O, Sanchez-Franco F, Saura R, Young J, Petit C, Hardelin JP.

Nat Genet. 2003 Apr;33(4):463-5. Epub 2003 Mar 10.

PMID:
12627230
18.

The enlarging clinical, genetic, and population spectrum of tumor necrosis factor receptor-associated periodic syndrome.

Dodé C, André M, Bienvenu T, Hausfater P, Pêcheux C, Bienvenu J, Lecron JC, Reinert P, Cattan D, Piette JC, Szajnert MF, Delpech M, Grateau G; French Heraditary Recurrent Inflammatory Disorder Study Group.

Arthritis Rheum. 2002 Aug;46(8):2181-8.

19.

Mutational spectrum in the MEFV and TNFRSF1A genes in patients suffering from AA amyloidosis and recurrent inflammatory attacks.

Dodé C, Hazenberg BP, Pêcheux C, Cattan D, Moulin B, Barthélémy A, Gubler MC, Delpech M, Grateau G.

Nephrol Dial Transplant. 2002 Jul;17(7):1212-7.

PMID:
12105243
20.

Familial Mediterranean fever in Lebanon: mutation spectrum, evidence for cases in Maronites, Greek orthodoxes, Greek catholics, Syriacs and Chiites and for an association between amyloidosis and M694V and M694I mutations.

Mansour I, Delague V, Cazeneuve C, Dodé C, Chouery E, Pêcheux C, Medlej-Hashim M, Salem N, El Zein L, Levan-Petit I, Lefranc G, Goossens M, Delpech M, Amselem S, Loiselet J, Grateau G, Mégarbane A, Naman R.

Eur J Hum Genet. 2001 Jan;9(1):51-5.

21.

A novel missense mutation (C30S) in the gene encoding tumor necrosis factor receptor 1 linked to autosomal-dominant recurrent fever with localized myositis in a French family.

Dodé C, Papo T, Fieschi C, Pêcheux C, Dion E, Picard F, Godeau P, Bienvenu J, Piette JC, Delpech M, Grateau G.

Arthritis Rheum. 2000 Jul;43(7):1535-42.

22.

Mutations in the MEFV gene in a large series of patients with a clinical diagnosis of familial Mediterranean fever.

Dodé C, Pêcheux C, Cazeneuve C, Cattan D, Dervichian M, Goossens M, Delpech M, Amselem S, Grateau G.

Am J Med Genet. 2000 Jun 5;92(4):241-6.

PMID:
10842288
23.

Clinical versus genetic diagnosis of familial Mediterranean fever.

Grateau G, Pêcheux C, Cazeneuve C, Cattan D, Dervichian M, Goossens M, Delpech M, Amselem S, Dodé C.

QJM. 2000 Apr;93(4):223-9.

PMID:
10787450
24.

Renal amyloidosis as a first manifestation of Familial Mediterranean Fever.

Konstantopoulos K, Michael S, Kanta A, Pecheux C, Grateau J, Helioti H, Stathakis C.

Scand J Rheumatol. 2000;29(2):129-30.

PMID:
10777128
25.

MEFV-Gene analysis in armenian patients with Familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications.

Cazeneuve C, Sarkisian T, Pêcheux C, Dervichian M, Nédelec B, Reinert P, Ayvazyan A, Kouyoumdjian JC, Ajrapetyan H, Delpech M, Goossens M, Dodé C, Grateau G, Amselem S.

Am J Hum Genet. 1999 Jul;65(1):88-97.

26.

Homozygosity in Huntington's disease.

Dürr A, Hahn-Barma V, Brice A, Pêcheux C, Dodé C, Feingold J.

J Med Genet. 1999 Feb;36(2):172-3. No abstract available.

27.

Fibrinogen A alpha chain mutation (Arg554 Leu) associated with hereditary renal amyloidosis in a French family.

Hamidi Asl L, Fournier V, Billerey C, Justrabo E, Chevet D, Droz D, Pécheux C, Delpech M, Grateau G.

Amyloid. 1998 Dec;5(4):279-84.

PMID:
10036586
28.

Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF).

Bernot A, da Silva C, Petit JL, Cruaud C, Caloustian C, Castet V, Ahmed-Arab M, Dross C, Dupont M, Cattan D, Smaoui N, Dodé C, Pêcheux C, Nédelec B, Medaxian J, Rozenbaum M, Rosner I, Delpech M, Grateau G, Demaille J, Weissenbach J, Touitou I.

Hum Mol Genet. 1998 Aug;7(8):1317-25.

PMID:
9668175
29.
30.

Sequence analysis of the CCG polymorphic region adjacent to the CAG triplet repeat of the HD gene in normal and HD chromosomes.

Pêcheux C, Mouret JF, Dürr A, Agid Y, Feingold J, Brice A, Dodé C, Kaplan JC.

J Med Genet. 1995 May;32(5):399-400.

31.

Diagnosis of "sporadic" Huntington's disease.

Dürr A, Dodé C, Hahn V, Pêcheux C, Pillon B, Feingold J, Kaplan JC, Agid Y, Brice A.

J Neurol Sci. 1995 Mar;129(1):51-5.

PMID:
7751845
32.

Huntington's disease in French families: CAG repeat expansion and linkage disequilibrium analysis.

Dodé C, Dürr A, Pêcheux C, Mouret JF, Belal S, Bachner L, Agid Y, Kaplan JC, Brice A, Feingold J.

C R Acad Sci III. 1993 Nov;316(11):1374-80.

PMID:
8087617

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