Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 58

1.

ASC1 is a cell cycle regulator associated with severe and mild forms of myopathy.

Villar-Quiles RN, Catervi F, Cabet E, Juntas-Morales R, Genetti CA, Gidaro T, Koparir A, Yüksel A, Coppens S, Deconinck N, Pierce-Hoffman E, Lornage X, Durigneux J, Laporte J, Rendu J, Romero NB, Beggs AH, Servais L, Cossée M, Olivé M, Böhm J, Duband-Goulet I, Ferreiro A.

Ann Neurol. 2019 Dec 3. doi: 10.1002/ana.25660. [Epub ahead of print]

PMID:
31794073
2.

The genomic and clinical landscape of fetal akinesia.

Pergande M, Motameny S, Özdemir Ö, Kreutzer M, Wang H, Daimagüler HS, Becker K, Karakaya M, Ehrhardt H, Elcioglu N, Ostojic S, Chao CM, Kawalia A, Duman Ö, Koy A, Hahn A, Reimann J, Schoner K, Schänzer A, Westhoff JH, Schwaibold EMC, Cossee M, Imbert-Bouteille M, von Pein H, Haliloglu G, Topaloglu H, Altmüller J, Nürnberg P, Thiele H, Heller R, Cirak S.

Genet Med. 2019 Nov 4. doi: 10.1038/s41436-019-0680-1. [Epub ahead of print]

PMID:
31680123
3.

A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing.

Krahn M, Biancalana V, Cerino M, Perrin A, Michel-Calemard L, Nectoux J, Leturcq F, Bouchet-Séraphin C, Acquaviva-Bourdain C, Campana-Salort E, Molon A, Urtizberea JA, Audic F, Chabrol B, Pouget J, Froissart R, Melki J, Rendu J, Petit F, Métay C, Seta N, Sternberg D, Fauré J, Cossée M.

Eur J Hum Genet. 2019 Mar;27(3):349-352. doi: 10.1038/s41431-018-0305-1. Epub 2018 Dec 14.

PMID:
30552423
4.

[Towards an harmonization of diagnosis by NGS of neuromuscular diseases - Actions of the Molecular Genetics sub-group of FILNEMUS].

Perrin A, Latour P, Procaccio V, Jardel C, Cérino M, Bonne G, Salort-Campana E, Urtizberea JA, Pouget J, Krahn M, Cossée M.

Med Sci (Paris). 2018 Nov;34 Hors série n°2:20-22. doi: 10.1051/medsci/201834s206. Epub 2018 Nov 12. French. No abstract available.

5.

A Reliable Targeted Next-Generation Sequencing Strategy for Diagnosis of Myopathies and Muscular Dystrophies, Especially for the Giant Titin and Nebulin Genes.

Zenagui R, Lacourt D, Pegeot H, Yauy K, Juntas Morales R, Theze C, Rivier F, Cances C, Sole G, Renard D, Walther-Louvier U, Ferrer-Monasterio X, Espil C, Arné-Bes MC, Cintas P, Uro-Coste E, Martin Negrier ML, Rigau V, Bieth E, Goizet C, Claustres M, Koenig M, Cossée M.

J Mol Diagn. 2018 Jul;20(4):533-549. doi: 10.1016/j.jmoldx.2018.04.001. Epub 2018 May 21.

PMID:
29792937
6.

MoBiDiC Prioritization Algorithm, a Free, Accessible, and Efficient Pipeline for Single-Nucleotide Variant Annotation and Prioritization for Next-Generation Sequencing Routine Molecular Diagnosis.

Yauy K, Baux D, Pegeot H, Van Goethem C, Mathieu C, Guignard T, Juntas Morales R, Lacourt D, Krahn M, Lehtokari VL, Bonne G, Tuffery-Giraud S, Koenig M, Cossée M.

J Mol Diagn. 2018 Jul;20(4):465-473. doi: 10.1016/j.jmoldx.2018.03.009. Epub 2018 Apr 22.

PMID:
29689380
7.

[Towards a national standardisation of NGS studies in the diagnosis of myopathies].

Krahn M, Cerino M, Campana-Salort E, Cossée M.

Med Sci (Paris). 2017 Nov;33 Hors série n°1:30-33. doi: 10.1051/medsci/201733s106. Epub 2017 Nov 15. Review. French. No abstract available.

8.

Non Random Distribution of DMD Deletion Breakpoints and Implication of Double Strand Breaks Repair and Replication Error Repair Mechanisms.

Marey I, Ben Yaou R, Deburgrave N, Vasson A, Nectoux J, Leturcq F, Eymard B, Laforet P, Behin A, Stojkovic T, Mayer M, Tiffreau V, Desguerre I, Boyer FC, Nadaj-Pakleza A, Ferrer X, Wahbi K, Becane HM, Claustres M, Chelly J, Cossee M.

J Neuromuscul Dis. 2016 May 27;3(2):227-245.

PMID:
27854212
9.

Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T).

Oestergaard ST, Stojkovic T, Dahlqvist JR, Bouchet-Seraphin C, Nectoux J, Leturcq F, Cossée M, Solé G, Thomsen C, Krag TO, Vissing J.

Neurol Genet. 2016 Oct 11;2(6):e112. eCollection 2016 Dec.

10.

Implementation of a Reliable Next-Generation Sequencing Strategy for Molecular Diagnosis of Dystrophinopathies.

Alame M, Lacourt D, Zenagui R, Mechin D, Danton F, Koenig M, Claustres M, Cossée M.

J Mol Diagn. 2016 Sep;18(5):731-740. doi: 10.1016/j.jmoldx.2016.05.003. Epub 2016 Jul 16.

PMID:
27425820
11.

Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing.

Nectoux J, de Cid R, Baulande S, Leturcq F, Urtizberea JA, Penisson-Besnier I, Nadaj-Pakleza A, Roudaut C, Criqui A, Orhant L, Peyroulan D, Ben Yaou R, Nelson I, Cobo AM, Arné-Bes MC, Uro-Coste E, Nitschke P, Claustres M, Bonne G, Lévy N, Chelly J, Richard I, Cossée M.

Eur J Hum Genet. 2015 Jul;23(7):929-34. doi: 10.1038/ejhg.2014.223. Epub 2014 Oct 29.

12.

The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia.

Curie A, Nazir T, Brun A, Paulignan Y, Reboul A, Delange K, Cheylus A, Bertrand S, Rochefort F, Bussy G, Marignier S, Lacombe D, Chiron C, Cossée M, Leheup B, Philippe C, Laugel V, De Saint Martin A, Sacco S, Poirier K, Bienvenu T, Souville I, Gilbert-Dussardier B, Bieth E, Kauffmann D, Briot P, de Fréminville B, Prieur F, Till M, Rooryck-Thambo C, Mortemousque I, Bobillier-Chaumont I, Toutain A, Touraine R, Sanlaville D, Chelly J, Freeman S, Kong J, Hadjikhani N, Gollub RL, Roy A, des Portes V.

Orphanet J Rare Dis. 2014 Feb 14;9:25. doi: 10.1186/1750-1172-9-25.

13.

Custom oligonucleotide array-based CGH: a reliable diagnostic tool for detection of exonic copy-number changes in multiple targeted genes.

Vasson A, Leroux C, Orhant L, Boimard M, Toussaint A, Leroy C, Commere V, Ghiotti T, Deburgrave N, Saillour Y, Atlan I, Fouveaut C, Beldjord C, Valleix S, Leturcq F, Dodé C, Bienvenu T, Chelly J, Cossée M.

Eur J Hum Genet. 2013 Sep;21(9):977-87. doi: 10.1038/ejhg.2012.279. Epub 2013 Jan 23.

14.

Dilated cardiomyopathy in patients with mutations in anoctamin 5.

Wahbi K, Béhin A, Bécane HM, Leturcq F, Cossée M, Laforêt P, Stojkovic T, Carlier P, Toussaint M, Gaxotte V, Cluzel P, Eymard B, Duboc D.

Int J Cardiol. 2013 Sep 20;168(1):76-9. doi: 10.1016/j.ijcard.2012.09.070. Epub 2012 Oct 3.

PMID:
23041008
15.

Homozygous SMN1 exons 1-6 deletion: pitfalls in genetic counseling and general recommendations for spinal muscular atrophy molecular diagnosis.

Thauvin-Robinet C, Drunat S, Saugier Veber P, Chantereau D, Cossée M, Cassini C, Soichot P, Masurel-Paulet A, De Monléon JV, Sagot P, Huet F, Antin M, Calmels N, Faivre L, Gérard B; “réseau français de génétique moléculaire”.

Am J Med Genet A. 2012 Jul;158A(7):1735-41. doi: 10.1002/ajmg.a.35402. Epub 2012 Jun 7.

PMID:
22678974
16.

Miyoshi-like distal myopathy with mutations in anoctamin 5 gene.

Bouquet F, Cossée M, Béhin A, Deburgrave N, Romero N, Leturcq F, Eymard B.

Rev Neurol (Paris). 2012 Feb;168(2):135-41. doi: 10.1016/j.neurol.2011.10.005. Epub 2012 Feb 13.

PMID:
22336395
17.

ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia.

Cossée M, Faivre L, Philippe C, Hichri H, de Saint-Martin A, Laugel V, Bahi-Buisson N, Lemaitre JF, Leheup B, Delobel B, Demeer B, Poirier K, Biancalana V, Pinoit JM, Julia S, Chelly J, Devys D, Mandel JL.

Am J Med Genet A. 2011 Jan;155A(1):98-105. doi: 10.1002/ajmg.a.33785.

PMID:
21204215
18.

Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.

Muller J, Stoetzel C, Vincent MC, Leitch CC, Laurier V, Danse JM, Hellé S, Marion V, Bennouna-Greene V, Vicaire S, Megarbane A, Kaplan J, Drouin-Garraud V, Hamdani M, Sigaudy S, Francannet C, Roume J, Bitoun P, Goldenberg A, Philip N, Odent S, Green J, Cossée M, Davis EE, Katsanis N, Bonneau D, Verloes A, Poch O, Mandel JL, Dollfus H.

Hum Genet. 2010 Mar;127(5):583-93. doi: 10.1007/s00439-010-0804-9. Epub 2010 Feb 23.

19.

Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression.

Daoud F, Angeard N, Demerre B, Martie I, Benyaou R, Leturcq F, Cossée M, Deburgrave N, Saillour Y, Tuffery S, Urtizberea A, Toutain A, Echenne B, Frischman M, Mayer M, Desguerre I, Estournet B, Réveillère C, Penisson-Besnier, Cuisset JM, Kaplan JC, Héron D, Rivier F, Chelly J.

Hum Mol Genet. 2009 Oct 15;18(20):3779-94. doi: 10.1093/hmg/ddp320. Epub 2009 Jul 14.

PMID:
19602481
20.

Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase.

Tuffery-Giraud S, Béroud C, Leturcq F, Yaou RB, Hamroun D, Michel-Calemard L, Moizard MP, Bernard R, Cossée M, Boisseau P, Blayau M, Creveaux I, Guiochon-Mantel A, de Martinville B, Philippe C, Monnier N, Bieth E, Khau Van Kien P, Desmet FO, Humbertclaude V, Kaplan JC, Chelly J, Claustres M.

Hum Mutat. 2009 Jun;30(6):934-45. doi: 10.1002/humu.20976.

PMID:
19367636
21.

Use of SNP array analysis to identify a novel TRIM32 mutation in limb-girdle muscular dystrophy type 2H.

Cossée M, Lagier-Tourenne C, Seguela C, Mohr M, Leturcq F, Gundesli H, Chelly J, Tranchant C, Koenig M, Mandel JL.

Neuromuscul Disord. 2009 Apr;19(4):255-60. doi: 10.1016/j.nmd.2009.02.003. Epub 2009 Mar 19.

PMID:
19303295
22.

Detection of exonic copy-number changes using a highly efficient oligonucleotide-based comparative genomic hybridization-array method.

Saillour Y, Cossée M, Leturcq F, Vasson A, Beugnet C, Poirier K, Commere V, Sublemontier S, Viel M, Letourneur F, Barbot JC, Deburgrave N, Chelly J, Bienvenu T.

Hum Mutat. 2008 Sep;29(9):1083-90. doi: 10.1002/humu.20829.

PMID:
18683213
23.

Partial Xp11.23-p11.4 duplication with random X inactivation: clinical report and molecular cytogenetic characterization.

Monnot S, Giuliano F, Massol C, Fossoud C, Cossée M, Lambert JC, Karmous-Benailly H.

Am J Med Genet A. 2008 May 15;146A(10):1325-9. doi: 10.1002/ajmg.a.32238.

PMID:
18412111
24.

[Unilateral presentation of X-linked myotubular myopathy (XLMTM) in two out of three female carriers in a family with no affected male].

Drouet A, Ollagnon-Roman E, Streichenberger N, Biancalana V, Cossée M, Guilloton L, Petiot P.

Rev Neurol (Paris). 2008 Feb;164(2):169-76. doi: 10.1016/j.neurol.2007.08.008. Epub 2008 Feb 1. French.

PMID:
18358876
25.

Diagnostic approach to neonatal hypotonia: retrospective study on 144 neonates.

Laugel V, Cossée M, Matis J, de Saint-Martin A, Echaniz-Laguna A, Mandel JL, Astruc D, Fischbach M, Messer J.

Eur J Pediatr. 2008 May;167(5):517-23. Epub 2007 Jul 20.

PMID:
17641914
26.

Diagnosis of myotubular myopathy in the oldest known manifesting female carrier: a clinical and genetic study.

Pénisson-Besnier I, Biancalana V, Reynier P, Cossée M, Dubas F.

Neuromuscul Disord. 2007 Feb;17(2):180-5. Epub 2007 Jan 23.

PMID:
17251023
27.

Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy.

Béroud C, Tuffery-Giraud S, Matsuo M, Hamroun D, Humbertclaude V, Monnier N, Moizard MP, Voelckel MA, Calemard LM, Boisseau P, Blayau M, Philippe C, Cossée M, Pagès M, Rivier F, Danos O, Garcia L, Claustres M.

Hum Mutat. 2007 Feb;28(2):196-202.

PMID:
17041910
28.

Phenotype in X chromosome rearrangements: pitfalls of X inactivation study.

Schluth C, Cossée M, Girard-Lemaire F, Carelle N, Dollfus H, Jeandidier E, Flori E.

Pathol Biol (Paris). 2007 Feb;55(1):29-36. Epub 2006 May 11.

PMID:
16690229
29.

Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect.

Cossée M, Demeer B, Blanchet P, Echenne B, Singh D, Hagens O, Antin M, Finck S, Vallee L, Dollfus H, Hegde S, Springell K, Thelma BK, Woods G, Kalscheuer V, Mandel JL.

Eur J Hum Genet. 2006 Apr;14(4):418-25.

30.

Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia.

Chassaing N, Bourthoumieu S, Cossee M, Calvas P, Vincent MC.

Hum Mutat. 2006 Mar;27(3):255-9.

PMID:
16435307
31.

Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study.

Thauvin-Robinet C, Cossée M, Cormier-Daire V, Van Maldergem L, Toutain A, Alembik Y, Bieth E, Layet V, Parent P, David A, Goldenberg A, Mortier G, Héron D, Sagot P, Bouvier AM, Huet F, Cusin V, Donzel A, Devys D, Teyssier JR, Faivre L.

J Med Genet. 2006 Jan;43(1):54-61.

32.

BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families.

Stoetzel C, Laurier V, Faivre L, Mégarbané A, Perrin-Schmitt F, Verloes A, Bonneau D, Mandel JL, Cossee M, Dollfus H.

J Hum Genet. 2006;51(1):81-4. Epub 2005 Nov 25.

PMID:
16308660
33.

[A clinical, neurophysiological and molecular study of 12 patients from 4 families with spinal and bulbar muscular atrophy].

Echaniz-Laguna A, Rousso E, Anheim M, Fleury M, Cossée M, Tranchant C.

Rev Neurol (Paris). 2005 Apr;161(4):437-44. French.

PMID:
15924079
34.

A family with early-onset and rapidly progressive X-linked spinal and bulbar muscular atrophy.

Echaniz-Laguna A, Rousso E, Anheim M, Cossée M, Tranchant C.

Neurology. 2005 Apr 26;64(8):1458-60.

PMID:
15851746
35.

Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.

Hichri H, Stoetzel C, Laurier V, Caron S, Sigaudy S, Sarda P, Hamel C, Martin-Coignard D, Gilles M, Leheup B, Holder M, Kaplan J, Bitoun P, Lacombe D, Verloes A, Bonneau D, Perrin-Schmitt F, Brandt C, Besancon AF, Mandel JL, Cossée M, Dollfus H.

Eur J Hum Genet. 2005 May;13(5):607-16.

36.

[Update on Bardet-Biedl syndrome].

Dollfus H, Verloes A, Bonneau D, Cossée M, Perrin-Schmitt F, Brandt C, Flament J, Mandel JL.

J Fr Ophtalmol. 2005 Jan;28(1):106-12. Review. French.

PMID:
15767906
37.

The role of muscle biopsy in analysis of the dystrophin gene in Duchenne muscular dystrophy: experience of a national referral centre.

Tuffery-Giraud S, Saquet C, Chambert S, Echenne B, Marie Cuisset J, Rivier F, Cossée M, Philippe C, Monnier N, Bieth E, Recan D, Antoinette Voelckel M, Perelman S, Lambert JC, Malcolm S, Claustres M.

Neuromuscul Disord. 2004 Oct;14(10):650-8.

PMID:
15351422
38.

Iron metabolism in mice with partial frataxin deficiency.

Santos MM, Miranda CJ, Levy JE, Montross LK, Cossée M, Sequeiros J, Andrews N, Koenig M, Pandolfo M.

Cerebellum. 2003;2(2):146-53.

PMID:
12880182
39.

Kennedy's Disease Initially Manifesting as an Endocrine Disorder.

Battaglia F, Le Galudec V, Cossee M, Tranchant C, Warter JM, Echaniz-Laguna A.

J Clin Neuromuscul Dis. 2003 Jun;4(4):165-7.

PMID:
19078709
40.

Pitfalls in clinical diagnosis of female carriers of X-linked hypohidrotic ectodermal dysplasia.

Vincent MC, Cossée M, Vabres P, Stewart F, Bonneau D, Calvas P.

Arch Dermatol. 2002 Sep;138(9):1256-8. No abstract available.

PMID:
12225002
41.

Frataxin knockin mouse.

Miranda CJ, Santos MM, Ohshima K, Smith J, Li L, Bunting M, Cossée M, Koenig M, Sequeiros J, Kaplan J, Pandolfo M.

FEBS Lett. 2002 Feb 13;512(1-3):291-7.

42.

Rescue of the Friedreich's ataxia knockout mouse by human YAC transgenesis.

Pook MA, Al-Mahdawi S, Carroll CJ, Cossée M, Puccio H, Lawrence L, Clark P, Lowrie MB, Bradley JL, Cooper JM, Koenig M, Chamberlain S.

Neurogenetics. 2001 Oct;3(4):185-93.

PMID:
11714098
43.

Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits.

Puccio H, Simon D, Cossée M, Criqui-Filipe P, Tiziano F, Melki J, Hindelang C, Matyas R, Rustin P, Koenig M.

Nat Genet. 2001 Feb;27(2):181-6.

PMID:
11175786
44.

Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation.

Cossée M, Puccio H, Gansmuller A, Koutnikova H, Dierich A, LeMeur M, Fischbeck K, Dollé P, Koenig M.

Hum Mol Genet. 2000 May 1;9(8):1219-26.

PMID:
10767347
45.

G130V, a common FRDA point mutation, appears to have arisen from a common founder.

Delatycki MB, Knight M, Koenig M, Cossée M, Williamson R, Forrest SM.

Hum Genet. 1999 Oct;105(4):343-6.

PMID:
10543403
46.

Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes.

Cossée M, Dürr A, Schmitt M, Dahl N, Trouillas P, Allinson P, Kostrzewa M, Nivelon-Chevallier A, Gustavson KH, Kohlschütter A, Müller U, Mandel JL, Brice A, Koenig M, Cavalcanti F, Tammaro A, De Michele G, Filla A, Cocozza S, Labuda M, Montermini L, Poirier J, Pandolfo M.

Ann Neurol. 1999 Feb;45(2):200-6.

PMID:
9989622
47.

Mutation of the start codon in the FRDA1 gene: linkage analysis of three pedigrees with the ATG to ATT transversion points to a unique common ancestor.

Zühlke C, Laccone F, Cossée M, Kohlschütter A, Koenig M, Schwinger E.

Hum Genet. 1998 Jul;103(1):102-5.

PMID:
9737785
48.

Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations.

Cossée M, Schmitt M, Campuzano V, Reutenauer L, Moutou C, Mandel JL, Koenig M.

Proc Natl Acad Sci U S A. 1997 Jul 8;94(14):7452-7.

49.

Correlation between left ventricular hypertrophy and GAA trinucleotide repeat length in Friedreich's ataxia.

Isnard R, Kalotka H, Dürr A, Cossée M, Schmitt M, Pousset F, Thomas D, Brice A, Koenig M, Komajda M.

Circulation. 1997 May 6;95(9):2247-9.

PMID:
9142000
50.

Frataxin fracas.

Cossée M, Campuzano V, Koutnikova H, Fischbeck K, Mandel JL, Koenig M, Bidichandani SI, Patel PI, Moltè MD, Cañizares J, De Frutos R, Pianese L, Cavalcanti F, Monticelli A, Cocozza S, Montermini L, Pandolfo M.

Nat Genet. 1997 Apr;15(4):337-8. No abstract available.

PMID:
9090376

Supplemental Content

Loading ...
Support Center