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Items: 1 to 50 of 85

1.

Fryns type mesomelic dysplasia of the upper limbs caused by inverted duplications of the HOXD gene cluster.

Le Caignec C, Pichon O, Briand A, de Courtivron B, Bonnard C, Lindenbaum P, Redon R, Schluth-Bolard C, Diguet F, Rollat-Farnier PA, Sanchez-Castro M, Vuillaume ML, Sanlaville D, Duboule D, Mégarbané A, Toutain A.

Eur J Hum Genet. 2019 Oct 7. doi: 10.1038/s41431-019-0522-2. [Epub ahead of print]

PMID:
31591517
2.

Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

Tabet AC, Rolland T, Ducloy M, Lévy J, Buratti J, Mathieu A, Haye D, Perrin L, Dupont C, Passemard S, Capri Y, Verloes A, Drunat S, Keren B, Mignot C, Marey I, Jacquette A, Whalen S, Pipiras E, Benzacken B, Chantot-Bastaraud S, Afenjar A, Héron D, Le Caignec C, Beneteau C, Pichon O, Isidor B, David A, El Khattabi L, Kemeny S, Gouas L, Vago P, Mosca-Boidron AL, Faivre L, Missirian C, Philip N, Sanlaville D, Edery P, Satre V, Coutton C, Devillard F, Dieterich K, Vuillaume ML, Rooryck C, Lacombe D, Pinson L, Gatinois V, Puechberty J, Chiesa J, Lespinasse J, Dubourg C, Quelin C, Fradin M, Journel H, Toutain A, Martin D, Benmansour A, Leblond CS, Toro R, Amsellem F, Delorme R, Bourgeron T.

NPJ Genom Med. 2019 Jul 1;4:16. doi: 10.1038/s41525-019-0090-y. eCollection 2019.

3.

Identification of rare copy number variations reveals PJA2, APCS, SYNPO, and TAC1 as novel candidate genes in Autism Spectrum Disorders.

Bitar T, Hleihel W, Marouillat S, Vonwill S, Vuillaume ML, Soufia M, Vourc'h P, Laumonnier F, Andres CR.

Mol Genet Genomic Med. 2019 Aug;7(8):e786. doi: 10.1002/mgg3.786. Epub 2019 Jun 29.

4.

CUGC for Simpson-Golabi-Behmel syndrome (SGBS).

Vuillaume ML, Moizard MP, Baumer A, Cottereau E, Brioude F, Rauch A, Toutain A.

Eur J Hum Genet. 2019 Apr;27(4):663-668. doi: 10.1038/s41431-019-0339-z. Epub 2019 Jan 25.

PMID:
30683921
5.

Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature.

Vuillaume ML, Moizard MP, Rossignol S, Cottereau E, Vonwill S, Alessandri JL, Busa T, Colin E, Gérard M, Giuliano F, Lambert L, Lefevre M, Kotecha U, Nampoothiri S, Netchine I, Raynaud M, Brioude F, Toutain A.

Hum Mutat. 2018 Dec;39(12):2110-2112. doi: 10.1002/humu.23612. Epub 2018 Sep 17. No abstract available.

PMID:
30447178
6.

Interest of chromosomal microarray analysis in the prenatal diagnosis of fetal intrauterine growth restriction.

Brun S, Pennamen P, Mattuizzi A, Coatleven F, Vuillaume ML, Lacombe D, Arveiler B, Toutain J, Rooryck C.

Prenat Diagn. 2018 Dec;38(13):1111-1119. doi: 10.1002/pd.5372. Epub 2018 Nov 22.

PMID:
30328630
7.

Whole genome sequencing identifies a de novo 2.1 Mb balanced paracentric inversion disrupting FOXP1 and leading to severe intellectual disability.

Vuillaume ML, Cogné B, Jeanne M, Boland A, Ung DC, Quinquis D, Besnard T, Deleuze JF, Redon R, Bézieau S, Laumonnier F, Toutain A.

Clin Chim Acta. 2018 Oct;485:218-223. doi: 10.1016/j.cca.2018.06.048. Epub 2018 Jun 30.

PMID:
29969624
8.

Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature.

Vuillaume ML, Moizard MP, Rossignol S, Cottereau E, Vonwill S, Alessandri JL, Busa T, Colin E, Gérard M, Giuliano F, Lambert L, Lefevre M, Kotecha U, Nampoothiri S, Netchine I, Raynaud M, Brioude F, Toutain A.

Hum Mutat. 2018 Jun;39(6):790-805. doi: 10.1002/humu.23428. Epub 2018 Apr 24. Erratum in: Hum Mutat. 2018 Dec;39(12):2110-2112.

PMID:
29637653
9.

Post hoc analysis of plasma amino acid profiles: towards a specific pattern in autism spectrum disorder and intellectual disability.

Delaye JB, Patin F, Lagrue E, Le Tilly O, Bruno C, Vuillaume ML, Raynaud M, Benz-De Bretagne I, Laumonnier F, Vourc'h P, Andres C, Blasco H.

Ann Clin Biochem. 2018 Sep;55(5):543-552. doi: 10.1177/0004563218760351. Epub 2018 Feb 22.

PMID:
29388433
10.

Are all Xq26.2 duplications overlapping GPC3 on array-CGH a cause of Simpson-Golabi-Behmel syndrome? When do we need transcript analysis?

Vuillaume ML, Moizard MP, Hammouche E, Delrue MA, Perrin L, Maftei C, Dupont C, Drunat S, Cottereau E, Baumann C, Toutain A.

Clin Genet. 2018 May;93(5):1111-1113. doi: 10.1111/cge.13151. Epub 2018 Jan 25. No abstract available.

PMID:
29372559
11.

A novel mutation in the transmembrane 6 domain of GABBR2 leads to a Rett-like phenotype.

Vuillaume ML, Jeanne M, Xue L, Blesson S, Denommé-Pichon AS, Alirol S, Brulard C, Colin E, Isidor B, Gilbert-Dussardier B, Odent S, Parent P, Donnart A, Redon R, Bézieau S, Rondard P, Laumonnier F, Toutain A.

Ann Neurol. 2018 Feb;83(2):437-439. doi: 10.1002/ana.25155. Epub 2018 Feb 7. No abstract available.

12.

A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

Tabet AC, Rolland T, Ducloy M, Lévy J, Buratti J, Mathieu A, Haye D, Perrin L, Dupont C, Passemard S, Capri Y, Verloes A, Drunat S, Keren B, Mignot C, Marey I, Jacquette A, Whalen S, Pipiras E, Benzacken B, Chantot-Bastaraud S, Afenjar A, Héron D, Le Caignec C, Beneteau C, Pichon O, Isidor B, David A, El Khattabi L, Kemeny S, Gouas L, Vago P, Mosca-Boidron AL, Faivre L, Missirian C, Philip N, Sanlaville D, Edery P, Satre V, Coutton C, Devillard F, Dieterich K, Vuillaume ML, Rooryck C, Lacombe D, Pinson L, Gatinois V, Puechberty J, Chiesa J, Lespinasse J, Dubourg C, Quelin C, Fradin M, Journel H, Toutain A, Martin D, Benmansour A, Leblond CS, Toro R, Amsellem F, Delorme R, Bourgeron T.

NPJ Genom Med. 2017 Oct 23;2:32. doi: 10.1038/s41525-017-0035-2. eCollection 2017. Erratum in: NPJ Genom Med. 2019 Jul 1;4:16.

13.

19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference.

Trimouille A, Houcinat N, Vuillaume ML, Fergelot P, Boucher C, Toutain J, Caignec CL, Vincent M, Nizon M, Andrieux J, Vanlerberghe C, Delobel B, Duban B, Mansour S, Baple E, McKeown C, Poke G, Robertshaw K, Fifield E, Fabretto A, Pecile V, Gasparini P, Carrozzi M, Lacombe D, Arveiler B, Rooryck C, Moutton S.

Eur J Hum Genet. 2018 Jan;26(1):85-93. doi: 10.1038/s41431-017-0037-7. Epub 2017 Nov 28.

14.

Early fetal presentation of Koolen-de Vries: Case report with literature review.

Sauvestre F, Marguet F, Rooryck C, Vuillaume ML, Cardinaud F, Laquerrière A, André G, Pelluard F.

Eur J Med Genet. 2017 Nov;60(11):605-609. doi: 10.1016/j.ejmg.2017.08.012. Epub 2017 Aug 12. Review.

PMID:
28811189
15.

First female prenatal case of osteopathia striata with cranial sclerosis in a fetus carrying a de-novo 1.9 Mbp interstitial deletion at Xq11.1q11.2.

Vuillaume ML, Valard AG, Houcinat N, Bouron J, Boucher C, Deves S, Toutain J, Schaub B, Adenet C, Lacombe D, Gueneret M, Rooryck C.

Clin Dysmorphol. 2017 Oct;26(4):231-234. doi: 10.1097/MCD.0000000000000192. No abstract available.

PMID:
28799946
16.

Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum.

Moutton S, Fergelot P, Naudion S, Cordier MP, Solé G, Guerineau E, Hubert C, Rooryck C, Vuillaume ML, Houcinat N, Deforges J, Bouron J, Devès S, Le Merrer M, David A, Geneviève D, Giuliano F, Journel H, Megarbane A, Faivre L, Chassaing N, Francannet C, Sarrazin E, Stattin EL, Vigneron J, Leclair D, Abadie C, Sarda P, Baumann C, Delrue MA, Arveiler B, Lacombe D, Goizet C, Coupry I.

J Hum Genet. 2016 Aug;61(8):693-9. doi: 10.1038/jhg.2016.37. Epub 2016 May 19.

PMID:
27193221
17.

SCA27 is a cause of early-onset ataxia and developmental delay.

Planes M, Rooryck C, Vuillaume ML, Besnard L, Bouron J, Lacombe D, Arveiler B, Goizet C.

Eur J Paediatr Neurol. 2015 Mar;19(2):271-3. doi: 10.1016/j.ejpn.2014.11.013. Epub 2014 Dec 5. No abstract available.

PMID:
25530029
18.

New candidate loci identified by array-CGH in a cohort of 100 children presenting with syndromic obesity.

Vuillaume ML, Naudion S, Banneau G, Diene G, Cartault A, Cailley D, Bouron J, Toutain J, Bourrouillou G, Vigouroux A, Bouneau L, Nacka F, Kieffer I, Arveiler B, Knoll-Gellida A, Babin PJ, Bieth E, Jouret B, Julia S, Sarda P, Geneviève D, Faivre L, Lacombe D, Barat P, Tauber M, Delrue MA, Rooryck C.

Am J Med Genet A. 2014 Aug;164A(8):1965-75. doi: 10.1002/ajmg.a.36587. Epub 2014 Apr 29.

PMID:
24782328
19.

Expanding the clinical phenotype at the 3q13.31 locus with a new case of microdeletion and first characterization of the reciprocal duplication.

Vuillaume ML, Delrue MA, Naudion S, Toutain J, Fergelot P, Arveiler B, Lacombe D, Rooryck C.

Mol Genet Metab. 2013 Sep-Oct;110(1-2):90-7. doi: 10.1016/j.ymgme.2013.07.013. Epub 2013 Jul 20.

PMID:
23920044
20.

[Analysis of gene expression data regulated by clock-genes: methodological approach and optimization].

Vuillaume ML, Kwiatkowski F, Uhrhammer N, Bidet Y, Bignon YJ.

Pathol Biol (Paris). 2013 Oct;61(5):e89-95. doi: 10.1016/j.patbio.2010.12.001. Epub 2012 Oct 31. French.

PMID:
23122513
21.

Use of gene expression profiles of peripheral blood lymphocytes to distinguish BRCA1 mutation carriers in high risk breast cancer families.

Vuillaume ML, Uhrhammer N, Vidal V, Vidal VS, Chabaud V, Jesson B, Kwiatkowski F, Bignon YJ.

Cancer Inform. 2009;7:41-56. Epub 2009 Mar 2.

22.

ATM haplotypes and cellular response to DNA damage: association with breast cancer risk and clinical radiosensitivity.

Angèle S, Romestaing P, Moullan N, Vuillaume M, Chapot B, Friesen M, Jongmans W, Cox DG, Pisani P, Gérard JP, Hall J.

Cancer Res. 2003 Dec 15;63(24):8717-25.

23.

Oxidative stress in cancer prone xeroderma pigmentosum fibroblasts. Real-time and single cell monitoring of superoxide and nitric oxide production with microelectrodes.

Arbault S, Sojic N, Bruce D, Amatore C, Sarasin A, Vuillaume M.

Carcinogenesis. 2004 Apr;25(4):509-15. Epub 2003 Dec 19.

PMID:
14688028
24.

Idiopathic and radiation-induced ocular telangiectasia: the involvement of the ATM gene.

Mauget-Faÿsse M, Vuillaume M, Quaranta M, Moullan N, Angèle S, Friesen MD, Hall J.

Invest Ophthalmol Vis Sci. 2003 Aug;44(8):3257-62.

PMID:
12882767
25.

Characterization of the electrochemical oxidation of peroxynitrite: relevance to oxidative stress bursts measured at the single cell level.

Amatore C, Arbault S, Bruce D, de Oliveira P, Erard LM, Vuillaume M.

Chemistry. 2001 Oct 1;7(19):4171-9.

PMID:
11686596
26.

Relationship between posttranslational modification of transaldolase and catalase deficiency in UV-sensitive repair-deficient xeroderma pigmentosum fibroblasts and SV40-transformed human cells.

Lachaise F, Martin G, Drougard C, Perl A, Vuillaume M, Wegnez M, Sarasin A, Daya-Grosjean L.

Free Radic Biol Med. 2001 Jun 15;30(12):1365-73.

PMID:
11390181
27.

Analysis of individual biochemical events based on artificial synapses using ultramicroelectrodes: cellular oxidative burst.

Amatore C, Arbault S, Bruce D, de Oliveira P, Erard M, Vuillaume M.

Faraday Discuss. 2000;(116):319-33; discussion 335-51. Review.

PMID:
11197488
28.

Abnormal expression of the ATM and TP53 genes in sporadic breast carcinomas.

Angèle S, Treilleux I, Tanière P, Martel-Planche G, Vuillaume M, Bailly C, Brémond A, Montesano R, Hall J.

Clin Cancer Res. 2000 Sep;6(9):3536-44.

29.

[Home schooling].

Vuillaume M, Coulon-Strumeyer C.

Soins Pediatr Pueric. 1999 Jan-Feb;(186):14-6. French. No abstract available.

PMID:
10578961
30.

High incidence of cancer in a family segregating a mutation of the ATM gene: possible role of ATM heterozygosity in cancer.

Bay JO, Uhrhammer N, Pernin D, Presneau N, Tchirkov A, Vuillaume M, Laplace V, Grancho M, Verrelle P, Hall J, Bignon YJ.

Hum Mutat. 1999;14(6):485-92.

PMID:
10571946
31.

Amplification of the inflammatory cellular redox state by human immunodeficiency virus type 1-immunosuppressive tat and gp160 proteins.

Lachgar A, Sojic N, Arbault S, Bruce D, Sarasin A, Amatore C, Bizzini B, Zagury D, Vuillaume M.

J Virol. 1999 Feb;73(2):1447-52.

32.

The p53-mediated DNA damage response to ionizing radiation in fibroblasts from ataxia-without-telangiectasia patients.

Jongmans W, Vuillaume M, Kleijer WJ, Lakin ND, Hall J.

Int J Radiat Biol. 1998 Sep;74(3):287-95.

PMID:
9737532
33.

Low catalase activity in xeroderma pigmentosum fibroblasts and SV40-transformed human cell lines is directly related to decreased intracellular levels of the cofactor, NADPH.

Hoffschir F, Daya-Grosjean L, Petit PX, Nocentini S, Dutrillaux B, Sarasin A, Vuillaume M.

Free Radic Biol Med. 1998 Mar 15;24(5):809-16.

PMID:
9586811
34.

Retroviral-mediated correction of DNA repair defect in xeroderma pigmentosum cells is associated with recovery of catalase activity.

Quilliet X, Chevallier-Lagente O, Zeng L, Calvayrac R, Mezzina M, Sarasin A, Vuillaume M.

Mutat Res. 1997 Dec;385(3):235-42.

PMID:
9506892
35.

Nijmegen breakage syndrome cells fail to induce the p53-mediated DNA damage response following exposure to ionizing radiation.

Jongmans W, Vuillaume M, Chrzanowska K, Smeets D, Sperling K, Hall J.

Mol Cell Biol. 1997 Sep;17(9):5016-22.

36.

Activation of the NADPH oxidase in human fibroblasts by mechanical intrusion of a single cell with an ultramicroelectrode.

Arbault S, Pantano P, Sojic N, Amatore C, Best-Belpomme M, Sarasin A, Vuillaume M.

Carcinogenesis. 1997 Mar;18(3):569-74.

PMID:
9067558
37.

Phenylarsine oxide inhibits ex vivo HIV-1 expression.

Arbault S, Edeas M, Legrand-Poels S, Sojic N, Amatore C, Piette J, Best-Belpomme M, Lindenbaum A, Vuillaume M.

Biomed Pharmacother. 1997;51(10):430-8.

PMID:
9863501
38.

The role of Ataxia telangiectasia and the DNA-dependent protein kinase in the p53-mediated cellular response to ionising radiation.

Jongmans W, Artuso M, Vuillaume M, Brésil H, Jackson SP, Hall J.

Oncogene. 1996 Sep 19;13(6):1133-8.

PMID:
8808686
39.
40.

Monitoring an oxidative stress mechanism at a single human fibroblast.

Arbault S, Pantano P, Jankowski JA, Vuillaume M, Amatore C.

Anal Chem. 1995 Oct 1;67(19):3382-90.

PMID:
8686890
41.

Rearrangement of CCND1 (BCL1/PRAD1) 3' untranslated region in mantle-cell lymphomas and t(11q13)-associated leukemias.

Rimokh R, Berger F, Bastard C, Klein B, French M, Archimbaud E, Rouault JP, Santa Lucia B, Duret L, Vuillaume M, et al.

Blood. 1994 Jun 15;83(12):3689-96.

PMID:
8204893
42.

Immunophenotypic and genotypic analysis of acquired immunodeficiency syndrome-related non-Hodgkin's lymphomas. Correlation with histologic features in 36 cases. French Study Group of Pathology for HIV-Associated Tumors.

Raphael MM, Audouin J, Lamine M, Delecluse HJ, Vuillaume M, Lenoir GM, Gisselbrecht C, Lennert K, Diebold J.

Am J Clin Pathol. 1994 Jun;101(6):773-82.

PMID:
8209868
43.

Breakpoints of Burkitt's lymphoma t(8;22) translocations map within a distance of 300 kb downstream of MYC.

Zeidler R, Joos S, Delecluse HJ, Klobeck G, Vuillaume M, Lenoir GM, Bornkamm GW, Lipp M.

Genes Chromosomes Cancer. 1994 Apr;9(4):282-7.

PMID:
7519050
44.

Decrease in catalase activity and loss of the 11p chromosome arm in the course of SV40 transformation of human fibroblasts.

Hoffschir F, Vuillaume M, Sabatier L, Ricoul M, Daya-Grosjean L, Estrade S, Cassingena R, Calvayrac R, Sarasin A, Dutrillaux B.

Carcinogenesis. 1993 Aug;14(8):1569-72.

PMID:
8394777
45.
46.

Striking differences in cellular catalase activity between two DNA repair-deficient diseases: xeroderma pigmentosum and trichothiodystrophy.

Vuillaume M, Daya-Grosjean L, Vincens P, Pennetier JL, Tarroux P, Baret A, Calvayrac R, Taieb A, Sarasin A.

Carcinogenesis. 1992 Mar;13(3):321-8.

PMID:
1547519
47.

Catalase-associated abnormalities and H2O2 increase in pre-neoplastic and neoplastic lesions of the human lower female genital tract and their near adjacent epithelia.

Vuillaume M, Decroix Y, Calvayrac R, Truc JB, Paniel BJ, Vincens P, Tarroux P, Poitout P.

Biomed Pharmacother. 1991;45(10):435-44.

PMID:
1820175
48.

Antioxidant activity of hemocyanin; a pulse radiolysis study.

Quéinnec E, Gardès-Albert M, Goyffon M, Ferradini C, Vuillaume M.

Biochim Biophys Acta. 1990 Nov 15;1041(2):153-9.

PMID:
2176106
49.

Deficiency in catalase activity correlates with the appearance of tumor phenotype in human keratinocytes.

Rabilloud T, Asselineau D, Miquel C, Calvayrac R, Darmon M, Vuillaume M.

Int J Cancer. 1990 May 15;45(5):952-6.

PMID:
2335398

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