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Items: 1 to 50 of 355

1.

Brief report: High prevalence of somatic oncogenic driver alterations in non-small cell lung cancer patients with Li-Fraumeni Syndrome.

Mezquita L, Jove M, Nadal E, Kfoury M, Morán T, Ricordel C, Dhooge M, Tlemsani C, Léna H, Teulé A, Álvarez JV, Raimbourg J, Hiret S, Pharma LL, Menéndez M, Saldaña J, Brunet J, Lianes P, Coupier I, Auclin E, Recondo G, Friboulet L, Adam J, Green E, Planchard D, Frébourg T, Capellà G, Rouleau E, Lázaro C, Caron O, Besse B.

J Thorac Oncol. 2020 Mar 13. pii: S1556-0864(20)30197-0. doi: 10.1016/j.jtho.2020.03.005. [Epub ahead of print]

PMID:
32179180
2.

A Connected Network of Interacting Proteins Is Involved in Human-Tau Toxicity in Drosophila.

Feuillette S, Charbonnier C, Frebourg T, Campion D, Lecourtois M.

Front Neurosci. 2020 Feb 11;14:68. doi: 10.3389/fnins.2020.00068. eCollection 2020.

3.

Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.

Husson T, Lecoquierre F, Cassinari K, Charbonnier C, Quenez O, Goldenberg A, Guerrot AM, Richard AC, Drouin-Garraud V, Brehin AC, Soleimani M, Taton R, Rotharmel M, Rosier A, Chambon P, Le Meur N, Joly-Helas G, Saugier-Veber P, Boland A, Deleuze JF, Olaso R, Frebourg T, Nicolas G, Guillin O, Campion D.

Transl Psychiatry. 2020 Feb 24;10(1):77. doi: 10.1038/s41398-020-0760-7.

4.

Moderate Overexpression of Tau in Drosophila Exacerbates Amyloid-β-Induced Neuronal Phenotypes and Correlates with Tau Oligomerization.

Miguel L, Frebourg T, Campion D, Lecourtois M.

J Alzheimers Dis. 2020;74(2):637-647. doi: 10.3233/JAD-190906.

PMID:
32065789
5.

Exome sequencing identifies the first genetic determinants of sirenomelia in humans.

Lecoquierre F, Brehin AC, Coutant S, Coursimault J, Bazin A, Finck W, Benoist G, Begorre M, Beneteau C, Cailliez D, Chenal P, De Jong M, Degré S, Devisme L, Francannet C, Gérard B, Jeanne C, Joubert M, Journel H, Laurichesse Delmas H, Layet V, Liquier A, Mangione R, Patrier S, Pelluard F, Petit F, Tillouche N, van Ravenswaaij-Arts C, Frebourg T, Saugier-Veber P, Gruchy N, Nicolas G, Gerard M.

Hum Mutat. 2020 Feb 14. doi: 10.1002/humu.23998. [Epub ahead of print]

PMID:
32058622
6.

Skipping Nonsense to Maintain Function: The Paradigm of BRCA2 Exon 12.

Meulemans L, Mesman RLS, Caputo SM, Krieger S, Guillaud-Bataille M, Caux-Moncoutier V, Léone M, Boutry-Kryza N, Sokolowska J, Révillion F, Delnatte C, Tubeuf H, Soukarieh O, Bonnet-Dorion F, Guibert V, Bronner M, Bourdon V, Lizard S, Vilquin P, Privat M, Drouet A, Grout C, Calléja FMGR, Golmard L, Vrieling H, Stoppa-Lyonnet D, Houdayer C, Frebourg T, Vreeswijk MPG, Martins A, Gaildrat P.

Cancer Res. 2020 Apr 1;80(7):1374-1386. doi: 10.1158/0008-5472.CAN-19-2491. Epub 2020 Feb 11.

PMID:
32046981
7.

Characterisation of heterozygous PMS2 variants in French patients with Lynch syndrome.

Wang Q, Leclerc J, Bougeard G, Olschwang S, Vasseur S, Cassinari K, Boidin D, Lefol C, Naïbo P, Frébourg T, Buisine MP, Baert-Desurmont S; French Consortium of Oncogenetic laboratories for colorectal cancers, Unicancer Cancer Genetic Group (GGC).

J Med Genet. 2020 Jan 28. pii: jmedgenet-2019-106256. doi: 10.1136/jmedgenet-2019-106256. [Epub ahead of print]

PMID:
31992580
8.

Mosaic PTEN alteration in the neural crest during embryogenesis results in multiple nervous system hamartomas.

Goldenberg A, Marguet F, Gilard V, Cardine AM, Hassani A, Doz F, Radi S, Vasseur S, Bou J, Branchaud M, Houdayer C, Baert-Desurmont S, Laquerriere A, Frebourg T.

Acta Neuropathol Commun. 2019 Dec 3;7(1):191. doi: 10.1186/s40478-019-0841-0.

9.

Pontocerebellar hypoplasia with rhombencephalosynapsis and microlissencephaly expands the spectrum of PCH type 1B.

Saugier-Veber P, Marguet F, Vezain M, Bucourt M, Letard P, Delahaye A, Pipiras E, Frébourg T, Gonzalez B, Laquerrière A.

Eur J Med Genet. 2019 Nov 23:103814. doi: 10.1016/j.ejmg.2019.103814. [Epub ahead of print]

PMID:
31770597
10.

Patients with 10q22.3q23.1 recurrent deletion syndrome are at risk for juvenile polyposis.

Lecoquierre F, Cassinari K, Chambon P, Nicolas G, Malsa S, Marlin R, Assouline Y, Fléjou JF, Frebourg T, Houdayer C, Bera O, Baert-Desurmont S.

Eur J Med Genet. 2019 Sep 24:103773. doi: 10.1016/j.ejmg.2019.103773. [Epub ahead of print]

PMID:
31561016
11.

Detection of all adult Tau isoforms in a 3D culture model of iPSC-derived neurons.

Miguel L, Rovelet-Lecrux A, Feyeux M, Frebourg T, Nassoy P, Campion D, Lecourtois M.

Stem Cell Res. 2019 Oct;40:101541. doi: 10.1016/j.scr.2019.101541. Epub 2019 Aug 23.

12.

Glutamate controls vessel-associated migration of GABA interneurons from the pial migratory route via NMDA receptors and endothelial protease activation.

Léger C, Dupré N, Aligny C, Bénard M, Lebon A, Henry V, Hauchecorne M, Galas L, Frebourg T, Leroux P, Vivien D, Lecointre M, Marret S, Gonzalez BJ.

Cell Mol Life Sci. 2019 Aug 7. doi: 10.1007/s00018-019-03248-5. [Epub ahead of print]

PMID:
31392351
13.

Confirmation and further delineation of the SMG9-deficiency syndrome, a rare and severe developmental disorder.

Lecoquierre F, Bonnevalle A, Chadie A, Gayet C, Dumant-Forest C, Renaux-Petel M, Leca JB, Hazelzet T, Brasseur-Daudruy M, Louillet F, Muraine M, Coutant S, Quenez O, Boland A, Deleuze JF, Frebourg T, Goldenberg A, Saugier-Veber P, Guerrot AM, Nicolas G.

Am J Med Genet A. 2019 Nov;179(11):2257-2262. doi: 10.1002/ajmg.a.61317. Epub 2019 Aug 7.

PMID:
31390136
14.

A Simple, Universal, and Cost-Efficient Digital PCR Method for the Targeted Analysis of Copy Number Variations.

Cassinari K, Quenez O, Joly-Hélas G, Beaussire L, Le Meur N, Castelain M, Goldenberg A, Guerrot AM, Brehin AC, Deleuze JF, Boland A, Rovelet-Lecrux A, Campion D, Saugier-Veber P, Gruchy N, Frebourg T, Nicolas G, Sarafan-Vasseur N, Chambon P.

Clin Chem. 2019 Sep;65(9):1153-1160. doi: 10.1373/clinchem.2019.304246. Epub 2019 Jul 10.

PMID:
31292136
15.

Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotype.

Grangeon L, Wallon D, Charbonnier C, Quenez O, Richard AC, Rousseau S, Budowski C, Lebouvier T, Corbille AG, Vidailhet M, Méneret A, Roze E, Anheim M, Tranchant C, Favrole P, Antoine JC, Defebvre L, Ayrignac X, Labauge P, Pariente J, Clanet M, Maltête D, Rovelet-Lecrux A, Boland A, Deleuze JF; French PFBC study group, Frebourg T, Hannequin D, Campion D, Nicolas G.

Brain. 2019 Jun 1;142(6):1573-1586. doi: 10.1093/brain/awz095.

PMID:
31009047
16.

Copy Number Variants in miR-138 as a Potential Risk Factor for Early-Onset Alzheimer's Disease.

Boscher E, Husson T, Quenez O, Laquerrière A, Marguet F, Cassinari K, Wallon D, Martinaud O, Charbonnier C, Nicolas G, Deleuze JF, Boland A, Lathrop M, Frébourg T; FREX Consortium, Campion D, Hébert SS, Rovelet-Lecrux A.

J Alzheimers Dis. 2019;68(3):1243-1255. doi: 10.3233/JAD-180940.

PMID:
30909216
17.

A recurrent clonally distinct Burkitt lymphoma case highlights genetic key events contributing to oncogenesis.

Penther D, Viailly PJ, Latour S, Etancelin P, Bohers E, Vellemans H, Camus V, Menard AL, Coutant S, Lanic H, Lemasle E, Drieux F, Veresezan L, Ruminy P, Raimbault A, Soulier J, Frebourg T, Tilly H, Jardin F.

Genes Chromosomes Cancer. 2019 Aug;58(8):595-601. doi: 10.1002/gcc.22743. Epub 2019 Mar 27.

18.

Identification of TCERG1 as a new genetic modulator of TDP-43 production in Drosophila.

Pons M, Prieto S, Miguel L, Frebourg T, Campion D, Suñé C, Lecourtois M.

Acta Neuropathol Commun. 2018 Dec 12;6(1):138. doi: 10.1186/s40478-018-0639-5.

19.

Identification of potential genetic risk factors for bipolar disorder by whole-exome sequencing.

Husson T, Duboc JB, Quenez O, Charbonnier C, Rotharmel M, Cuenca M, Jegouzo X, Richard AC, Frebourg T, Deleuze JF, Boland A, Genin E, Debette S, Tzourio C, Campion D, Nicolas G, Guillin O; FREX Consortium.

Transl Psychiatry. 2018 Dec 5;8(1):268. doi: 10.1038/s41398-018-0291-7.

20.

A de novo variant in ADGRL2 suggests a novel mechanism underlying the previously undescribed association of extreme microcephaly with severely reduced sulcation and rhombencephalosynapsis.

Vezain M, Lecuyer M, Rubio M, Dupé V, Ratié L, David V, Pasquier L, Odent S, Coutant S, Tournier I, Trestard L, Adle-Biassette H, Vivien D, Frébourg T, Gonzalez BJ, Laquerrière A, Saugier-Veber P.

Acta Neuropathol Commun. 2018 Oct 19;6(1):109. doi: 10.1186/s40478-018-0610-5.

21.

Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing.

Girard E, Eon-Marchais S, Olaso R, Renault AL, Damiola F, Dondon MG, Barjhoux L, Goidin D, Meyer V, Le Gal D, Beauvallet J, Mebirouk N, Lonjou C, Coignard J, Marcou M, Cavaciuti E, Baulard C, Bihoreau MT, Cohen-Haguenauer O, Leroux D, Penet C, Fert-Ferrer S, Colas C, Frebourg T, Eisinger F, Adenis C, Fajac A, Gladieff L, Tinat J, Floquet A, Chiesa J, Giraud S, Mortemousque I, Soubrier F, Audebert-Bellanger S, Limacher JM, Lasset C, Lejeune-Dumoulin S, Dreyfus H, Bignon YJ, Longy M, Pujol P, Venat-Bouvet L, Bonadona V, Berthet P, Luporsi E, Maugard CM, Noguès C, Delnatte C, Fricker JP, Gesta P, Faivre L, Lortholary A, Buecher B, Caron O, Gauthier-Villars M, Coupier I, Servant N, Boland A, Mazoyer S, Deleuze JF, Stoppa-Lyonnet D, Andrieu N, Lesueur F.

Int J Cancer. 2019 Apr 15;144(8):1962-1974. doi: 10.1002/ijc.31921. Epub 2018 Nov 13.

22.

Postmortem Diagnosis of Heart-hand Syndrome Associated With a 7p22.1p22.3 Deletion in a 16-week-old Fetus.

Tessier A, Callier P, LeMeur N, Frebourg T, Sabourin JC, Patrier S.

Pediatr Dev Pathol. 2019 Mar-Apr;22(2):146-151. doi: 10.1177/1093526618799293. Epub 2018 Sep 7.

PMID:
30193563
23.

Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease.

Nicolas G, Acuña-Hidalgo R, Keogh MJ, Quenez O, Steehouwer M, Lelieveld S, Rousseau S, Richard AC, Oud MS, Marguet F, Laquerrière A, Morris CM, Attems J, Smith C, Ansorge O, Al Sarraj S, Frebourg T, Campion D, Hannequin D, Wallon D, Gilissen C, Chinnery PF, Veltman JA, Hoischen A.

Alzheimers Dement. 2018 Dec;14(12):1632-1639. doi: 10.1016/j.jalz.2018.06.3056. Epub 2018 Aug 13.

24.

Guidelines for reporting secondary findings of genome sequencing in cancer genes: the SFMPP recommendations.

Pujol P, Vande Perre P, Faivre L, Sanlaville D, Corsini C, Baertschi B, Anahory M, Vaur D, Olschwang S, Soufir N, Bastide N, Amar S, Vintraud M, Ingster O, Richard S, Le Coz P, Spano JP, Caron O, Hammel P, Luporsi E, Toledano A, Rebillard X, Cambon-Thomsen A, Putois O, Rey JM, Hervé C, Zorn C, Baudry K, Galibert V, Gligorov J, Azria D, Bressac-de Paillerets B, Burnichon N, Spielmann M, Zarca D, Coupier I, Cussenot O, Gimenez-Roqueplo AP, Giraud S, Lapointe AS, Niccoli P, Raingeard I, Le Bidan M, Frebourg T, Rafii A, Geneviève D.

Eur J Hum Genet. 2018 Dec;26(12):1732-1742. doi: 10.1038/s41431-018-0224-1. Epub 2018 Aug 8.

25.

Contribution of genotoxic anticancer treatments to the development of multiple primary tumours in the context of germline TP53 mutations.

Kasper E, Angot E, Colasse E, Nicol L, Sabourin JC, Adriouch S, Lacoume Y, Charbonnier C, Raad S, Frebourg T, Flaman JM, Bougeard G.

Eur J Cancer. 2018 Sep;101:254-262. doi: 10.1016/j.ejca.2018.06.011. Epub 2018 Jul 30.

PMID:
30072235
26.

Landscape of pathogenic variations in a panel of 34 genes and cancer risk estimation from 5131 HBOC families.

Castéra L, Harter V, Muller E, Krieger S, Goardon N, Ricou A, Rousselin A, Paimparay G, Legros A, Bruet O, Quesnelle C, Domin F, San C, Brault B, Fouillet R, Abadie C, Béra O, Berthet P; French Exome Project Consortium, Frébourg T, Vaur D.

Genet Med. 2018 Dec;20(12):1677-1686. doi: 10.1038/s41436-018-0005-9. Epub 2018 Jul 10.

PMID:
29988077
27.

Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes.

Baert-Desurmont S, Coutant S, Charbonnier F, Macquere P, Lecoquierre F, Schwartz M, Blanluet M, Vezain M, Lanos R, Quenez O, Bou J, Bouvignies E, Fourneaux S, Manase S, Vasseur S, Mauillon J, Gerard M, Marlin R, Bougeard G, Tinat J, Frebourg T, Tournier I.

Eur J Hum Genet. 2018 Nov;26(11):1597-1602. doi: 10.1038/s41431-018-0207-2. Epub 2018 Jul 2.

28.

Primary brain calcification: an international study reporting novel variants and associated phenotypes.

Ramos EM, Carecchio M, Lemos R, Ferreira J, Legati A, Sears RL, Hsu SC, Panteghini C, Magistrelli L, Salsano E, Esposito S, Taroni F, Richard AC, Tranchant C, Anheim M, Ayrignac X, Goizet C, Vidailhet M, Maltete D, Wallon D, Frebourg T, Pimentel L, Geschwind DH, Vanakker O, Galasko D, Fogel BL, Innes AM, Ross A, Dobyns WB, Alcantara D, O'Driscoll M, Hannequin D, Campion D; French PFBC study group, Oliveira JR, Garavaglia B, Coppola G, Nicolas G.

Eur J Hum Genet. 2018 Oct;26(10):1462-1477. doi: 10.1038/s41431-018-0185-4. Epub 2018 Jun 28.

29.

Diversity of genetic events associated with MLH1 promoter methylation in Lynch syndrome families with heritable constitutional epimutation.

Leclerc J, Flament C, Lovecchio T, Delattre L, Ait Yahya E, Baert-Desurmont S, Burnichon N, Bronner M, Cabaret O, Lejeune S, Guimbaud R, Morin G, Mauillon J, Jonveaux P, Laurent-Puig P, Frébourg T, Porchet N, Buisine MP.

Genet Med. 2018 Dec;20(12):1589-1599. doi: 10.1038/gim.2018.47. Epub 2018 Apr 12.

PMID:
29790873
30.

FTLD/ALS-linked TDP-43 mutations do not alter TDP-43's ability to self-regulate its expression in Drosophila.

Miguel L, Avequin T, Pons M, Frebourg T, Campion D, Lecourtois M.

Brain Res. 2018 Sep 15;1695:1-9. doi: 10.1016/j.brainres.2018.05.021. Epub 2018 May 17.

PMID:
29778779
31.

Biallelic Loss of Function of SORL1 in an Early Onset Alzheimer's Disease Patient.

Le Guennec K, Tubeuf H, Hannequin D, Wallon D, Quenez O, Rousseau S, Richard AC, Deleuze JF, Boland A, Frebourg T, Gaildrat P, Campion D, Martins A, Nicolas G.

J Alzheimers Dis. 2018;62(2):821-831. doi: 10.3233/JAD-170981.

PMID:
29480197
32.

Contribution of germline deleterious variants in the RAD51 paralogs to breast and ovarian cancers.

Golmard L, Castéra L, Krieger S, Moncoutier V, Abidallah K, Tenreiro H, Laugé A, Tarabeux J, Millot GA, Nicolas A, Laé M, Abadie C, Berthet P, Polycarpe F, Frébourg T, Elan C, de Pauw A, Gauthier-Villars M, Buecher B, Stern MH, Stoppa-Lyonnet D, Vaur D, Houdayer C.

Eur J Hum Genet. 2017 Dec;25(12):1345-1353. doi: 10.1038/s41431-017-0021-2. Epub 2017 Nov 8.

33.

Cost-effectiveness evaluation of pre-counseling telephone interviews before face-to-face genetic counseling in cancer genetics.

Collet G, Parodi N, Cassinari K, Neviere Z, Cohen F, Gasnier C, Brahimi A, Lecoquierre F, Thery JC, Tennevet I, Lacaze E, Berthet P, Frebourg T.

Fam Cancer. 2018 Jul;17(3):451-457. doi: 10.1007/s10689-017-0049-z.

PMID:
29080081
34.

Contribution of de novo and mosaic TP53 mutations to Li-Fraumeni syndrome.

Renaux-Petel M, Charbonnier F, Théry JC, Fermey P, Lienard G, Bou J, Coutant S, Vezain M, Kasper E, Fourneaux S, Manase S, Blanluet M, Leheup B, Mansuy L, Champigneulle J, Chappé C, Longy M, Sévenet N, Paillerets BB, Guerrini-Rousseau L, Brugières L, Caron O, Sabourin JC, Tournier I, Baert-Desurmont S, Frébourg T, Bougeard G.

J Med Genet. 2018 Mar;55(3):173-180. doi: 10.1136/jmedgenet-2017-104976. Epub 2017 Oct 25.

PMID:
29070607
35.

Detecting splicing patterns in genes involved in hereditary breast and ovarian cancer.

Davy G, Rousselin A, Goardon N, Castéra L, Harter V, Legros A, Muller E, Fouillet R, Brault B, Smirnova AS, Lemoine F, de la Grange P, Guillaud-Bataille M, Caux-Moncoutier V, Houdayer C, Bonnet F, Blanc-Fournier C, Gaildrat P, Frebourg T, Martins A, Vaur D, Krieger S.

Eur J Hum Genet. 2017 Oct;25(10):1147-1154. doi: 10.1038/ejhg.2017.116. Epub 2017 Jul 26.

36.

Splicing factors act as genetic modulators of TDP-43 production in a new autoregulatory TDP-43 Drosophila model.

Pons M, Miguel L, Miel C, Avequin T, Juge F, Frebourg T, Campion D, Lecourtois M.

Hum Mol Genet. 2017 Sep 1;26(17):3396-3408. doi: 10.1093/hmg/ddx229.

PMID:
28854702
37.

Contribution to Alzheimer's disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls.

Bellenguez C, Charbonnier C, Grenier-Boley B, Quenez O, Le Guennec K, Nicolas G, Chauhan G, Wallon D, Rousseau S, Richard AC, Boland A, Bourque G, Munter HM, Olaso R, Meyer V, Rollin-Sillaire A, Pasquier F, Letenneur L, Redon R, Dartigues JF, Tzourio C, Frebourg T, Lathrop M, Deleuze JF, Hannequin D, Genin E, Amouyel P, Debette S, Lambert JC, Campion D; CNR MAJ collaborators.

Neurobiol Aging. 2017 Nov;59:220.e1-220.e9. doi: 10.1016/j.neurobiolaging.2017.07.001. Epub 2017 Jul 14.

PMID:
28789839
38.

Lung Adenocarcinoma as Part of the Li-Fraumeni Syndrome Spectrum: Preliminary Data of the LIFSCREEN Randomized Clinical Trial.

Caron O, Frebourg T, Benusiglio PR, Foulon S, Brugières L.

JAMA Oncol. 2017 Dec 1;3(12):1736-1737. doi: 10.1001/jamaoncol.2017.1358. No abstract available.

39.

Diagnostic value of CA19.9, circulating tumour DNA and circulating tumour cells in patients with solid pancreatic tumours.

Sefrioui D, Blanchard F, Toure E, Basile P, Beaussire L, Dolfus C, Perdrix A, Paresy M, Antonietti M, Iwanicki-Caron I, Alhameedi R, Lecleire S, Gangloff A, Schwarz L, Clatot F, Tuech JJ, Frébourg T, Jardin F, Sabourin JC, Sarafan-Vasseur N, Michel P, Di Fiore F.

Br J Cancer. 2017 Sep 26;117(7):1017-1025. doi: 10.1038/bjc.2017.250. Epub 2017 Aug 3.

40.

Heparinase enables reliable quantification of circulating tumor DNA from heparinized plasma samples by droplet digital PCR.

Sefrioui D, Beaussire L, Clatot F, Delacour J, Perdrix A, Frebourg T, Michel P, Di Fiore F, Sarafan-Vasseur N.

Clin Chim Acta. 2017 Sep;472:75-79. doi: 10.1016/j.cca.2017.07.015. Epub 2017 Jul 17.

PMID:
28729136
41.

Deep intronic hotspot variant explaining rhabdoid tumor predisposition syndrome in two patients with atypical teratoid and rhabdoid tumor.

Tauziède-Espariat A, Masliah-Planchon J, Brugières L, Puget S, Dufour C, Schneider P, Laquerrière A, Frebourg T, Bodet D, Lechapt-Zalcman E, Pierron G, Delattre O, Varlet P, Bourdeaut F.

Eur J Hum Genet. 2017 Oct;25(10):1170-1172. doi: 10.1038/ejhg.2017.115. Epub 2017 Jul 19.

42.

Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants.

Gaildrat P, Lebbah S, Tebani A, Sudrié-Arnaud B, Tostivint I, Bollee G, Tubeuf H, Charles T, Bertholet-Thomas A, Goldenberg A, Barbey F, Martins A, Saugier-Veber P, Frébourg T, Knebelmann B, Bekri S.

Mol Genet Genomic Med. 2017 May 16;5(4):373-389. doi: 10.1002/mgg3.294. eCollection 2017 Jul.

43.

Cancer Screening Recommendations and Clinical Management of Inherited Gastrointestinal Cancer Syndromes in Childhood.

Achatz MI, Porter CC, Brugières L, Druker H, Frebourg T, Foulkes WD, Kratz CP, Kuiper RP, Hansford JR, Hernandez HS, Nathanson KL, Kohlmann WK, Doros L, Onel K, Schneider KW, Scollon SR, Tabori U, Tomlinson GE, Evans DGR, Plon SE.

Clin Cancer Res. 2017 Jul 1;23(13):e107-e114. doi: 10.1158/1078-0432.CCR-17-0790. Review.

44.

Direct circulating tumor DNA detection from unpurified plasma using a digital PCR platform.

Sefrioui D, Beaussire L, Perdrix A, Clatot F, Michel P, Frebourg T, Di Fiore F, Sarafan-Vasseur N.

Clin Biochem. 2017 Nov;50(16-17):963-966. doi: 10.1016/j.clinbiochem.2017.06.005. Epub 2017 Jun 20.

PMID:
28645720
45.

Germline CDKN2A/P16INK4A mutations contribute to genetic determinism of sarcoma.

Jouenne F, Chauvot de Beauchene I, Bollaert E, Avril MF, Caron O, Ingster O, Lecesne A, Benusiglio P, Terrier P, Caumette V, Pissaloux D, de la Fouchardière A, Cabaret O, N'Diaye B, Velghe A, Bougeard G, Mann GJ, Koscielny S, Barrett JH, Harland M, Newton-Bishop J, Gruis N, Van Doorn R, Gauthier-Villars M, Pierron G, Stoppa-Lyonnet D, Coupier I, Guimbaud R, Delnatte C, Scoazec JY, Eggermont AM, Feunteun J, Tchertanov L, Demoulin JB, Frebourg T, Bressac-de Paillerets B.

J Med Genet. 2017 Sep;54(9):607-612. doi: 10.1136/jmedgenet-2016-104402. Epub 2017 Jun 7.

46.

Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome.

Kratz CP, Achatz MI, Brugières L, Frebourg T, Garber JE, Greer MC, Hansford JR, Janeway KA, Kohlmann WK, McGee R, Mullighan CG, Onel K, Pajtler KW, Pfister SM, Savage SA, Schiffman JD, Schneider KA, Strong LC, Evans DGR, Wasserman JD, Villani A, Malkin D.

Clin Cancer Res. 2017 Jun 1;23(11):e38-e45. doi: 10.1158/1078-0432.CCR-17-0408. Review.

47.

Clinical Management and Tumor Surveillance Recommendations of Inherited Mismatch Repair Deficiency in Childhood.

Tabori U, Hansford JR, Achatz MI, Kratz CP, Plon SE, Frebourg T, Brugières L.

Clin Cancer Res. 2017 Jun 1;23(11):e32-e37. doi: 10.1158/1078-0432.CCR-17-0574. Review.

48.

Identification of Somatic Mutations in Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type by Massive Parallel Sequencing.

Mareschal S, Pham-Ledard A, Viailly PJ, Dubois S, Bertrand P, Maingonnat C, Fontanilles M, Bohers E, Ruminy P, Tournier I, Courville P, Lenormand B, Duval AB, Andrieu E, Verneuil L, Vergier B, Tilly H, Joly P, Frebourg T, Beylot-Barry M, Merlio JP, Jardin F.

J Invest Dermatol. 2017 Sep;137(9):1984-1994. doi: 10.1016/j.jid.2017.04.010. Epub 2017 May 4.

49.

Gestational choriocarcinoma associated with a germline TP53 mutation.

Brehin AC, Patrier-Sallebert S, Bougeard G, Side-Pfennig G, Llamas Gutierrez F, Lamy A, Colasse E, Kandel-Aznar C, Delnatte C, Vuillemin E, Sadot-Lebouvier S, Odent S, Sabourin JC, Golfier F, Frebourg T.

Fam Cancer. 2018 Jan;17(1):113-117. doi: 10.1007/s10689-017-9996-7.

PMID:
28477316
50.

Germline TP53 mutations result into a constitutive defect of p53 DNA binding and transcriptional response to DNA damage.

Zerdoumi Y, Lanos R, Raad S, Flaman JM, Bougeard G, Frebourg T, Tournier I.

Hum Mol Genet. 2017 Jul 15;26(14):2812. doi: 10.1093/hmg/ddx165. No abstract available.

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