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Items: 1 to 50 of 338

1.

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 Feb 18. doi: 10.1002/gcc.22743. [Epub ahead of print]

PMID:
30779244
2.

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.

3.

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.

4.

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.

5.

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.

PMID:
30303537
6.

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. 2018 Sep 7:1093526618799293. doi: 10.1177/1093526618799293. [Epub ahead of print]

PMID:
30193563
7.

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.

8.

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.

PMID:
30089825
9.

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
10.

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
11.

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.

PMID:
29967336
12.

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.

PMID:
29955172
13.

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
14.

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
15.

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
16.

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.

17.

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
18.

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
19.

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.

20.

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
21.

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
22.

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.

23.

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.

24.

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
25.

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.

26.

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.

27.

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.

28.

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
29.

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.

30.

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.

31.

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.

32.

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.

33.

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
34.

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.

35.

Deletion of exons 9 and 10 of the Presenilin 1 gene in a patient with Early-onset Alzheimer Disease generates longer amyloid seeds.

Le Guennec K, Veugelen S, Quenez O, Szaruga M, Rousseau S, Nicolas G, Wallon D, Fluchere F, Frébourg T, De Strooper B, Campion D, Chávez-Gutiérrez L, Rovelet-Lecrux A.

Neurobiol Dis. 2017 Aug;104:97-103. doi: 10.1016/j.nbd.2017.04.020. Epub 2017 Apr 28.

PMID:
28461250
36.

Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene.

Saugier-Veber P, Marguet F, Lecoquierre F, Adle-Biassette H, Guimiot F, Cipriani S, Patrier S, Brasseur-Daudruy M, Goldenberg A, Layet V, Capri Y, Gérard M, Frébourg T, Laquerrière A.

Acta Neuropathol Commun. 2017 May 1;5(1):36. doi: 10.1186/s40478-017-0438-4.

37.

Neuron-to-Neuron Transfer of FUS in Drosophila Primary Neuronal Culture Is Enhanced by ALS-Associated Mutations.

Feuillette S, Delarue M, Riou G, Gaffuri AL, Wu J, Lenkei Z, Boyer O, Frébourg T, Campion D, Lecourtois M.

J Mol Neurosci. 2017 May;62(1):114-122. doi: 10.1007/s12031-017-0908-y. Epub 2017 Apr 20.

PMID:
28429234
38.

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):2591-2602. doi: 10.1093/hmg/ddx106. Erratum in: Hum Mol Genet. 2017 Jul 15;26(14 ):2812.

39.

Copy number variations in DCC/18q and ERBB2/17q are associated with disease-free survival in microsatellite stable colon cancer.

Sefrioui D, Vermeulin T, Blanchard F, Chapusot C, Beaussire L, Armengol-Debeir L, Sesboué R, Gangloff A, Hebbar M, Copin MC, Houivet E, Schwarz L, Clatot F, Tuech JJ, Bénichou J, Martin L, Bouvier AM, Sabourin JC, Sarafan-Vasseur N, Frébourg T, Lepage C, Michel P, Di Fiore F.

Int J Cancer. 2017 Apr 1;140(7):1653-1661. doi: 10.1002/ijc.30584.

40.

17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression.

Le Guennec K, Quenez O, Nicolas G, Wallon D, Rousseau S, Richard AC, Alexander J, Paschou P, Charbonnier C, Bellenguez C, Grenier-Boley B, Lechner D, Bihoreau MT, Olaso R, Boland A, Meyer V, Deleuze JF, Amouyel P, Munter HM, Bourque G, Lathrop M, Frebourg T, Redon R, Letenneur L, Dartigues JF, Martinaud O, Kalev O, Mehrabian S, Traykov L, Ströbel T, Le Ber I, Caroppo P, Epelbaum S, Jonveaux T, Pasquier F, Rollin-Sillaire A, Génin E, Guyant-Maréchal L, Kovacs GG, Lambert JC, Hannequin D, Campion D, Rovelet-Lecrux A.

Mol Psychiatry. 2017 Aug;22(8):1119-1125. doi: 10.1038/mp.2016.226. Epub 2016 Dec 13.

PMID:
27956742
41.

Type 0 Spinal Muscular Atrophy: Further Delineation of Prenatal and Postnatal Features in 16 Patients.

Grotto S, Cuisset JM, Marret S, Drunat S, Faure P, Audebert-Bellanger S, Desguerre I, Flurin V, Grebille AG, Guerrot AM, Journel H, Morin G, Plessis G, Renolleau S, Roume J, Simon-Bouy B, Touraine R, Willems M, Frébourg T, Verspyck E, Saugier-Veber P.

J Neuromuscul Dis. 2016 Nov 29;3(4):487-495.

PMID:
27911332
42.

Fraser syndrome: features suggestive of prenatal diagnosis in a review of 38 cases.

Tessier A, Sarreau M, Pelluard F, André G, Blesson S, Bucourt M, Dechelotte P, Faivre L, Frébourg T, Goldenberg A, Goua V, Jeanne-Pasquier C, Guimiot F, Laquerriere A, Laurent N, Lefebvre M, Loget P, Maréchaud M, Mechler C, Perez MJ, Sabourin JC, Verloes A, Patrier S, Guerrot AM.

Prenat Diagn. 2016 Dec;36(13):1270-1275. doi: 10.1002/pd.4971. Epub 2016 Dec 9. Review.

PMID:
27859469
43.

APP Mutations in Cerebral Amyloid Angiopathy with or without Cortical Calcifications: Report of Three Families and a Literature Review.

Sellal F, Wallon D, Martinez-Almoyna L, Marelli C, Dhar A, Oesterlé H, Rovelet-Lecrux A, Rousseau S, Kourkoulis CE, Rosand J, DiPucchio ZY, Frosch M, Gombert C, Audoin B, Miné M, Riant F, Frebourg T, Hannequin D, Campion D, Greenberg SM, Tournier-Lasserve E, Nicolas G.

J Alzheimers Dis. 2017;56(1):37-46. doi: 10.3233/JAD-160709. Review.

PMID:
27858710
44.

OutLyzer: software for extracting low-allele-frequency tumor mutations from sequencing background noise in clinical practice.

Muller E, Goardon N, Brault B, Rousselin A, Paimparay G, Legros A, Fouillet R, Bruet O, Tranchant A, Domin F, San C, Quesnelle C, Frebourg T, Ricou A, Krieger S, Vaur D, Castera L.

Oncotarget. 2016 Nov 29;7(48):79485-79493. doi: 10.18632/oncotarget.13103.

45.

Kinetics, prognostic and predictive values of ESR1 circulating mutations in metastatic breast cancer patients progressing on aromatase inhibitor.

Clatot F, Perdrix A, Augusto L, Beaussire L, Delacour J, Calbrix C, Sefrioui D, Viailly PJ, Bubenheim M, Moldovan C, Alexandru C, Tennevet I, Rigal O, Guillemet C, Leheurteur M, Gouérant S, Petrau C, Théry JC, Picquenot JM, Veyret C, Frébourg T, Jardin F, Sarafan-Vasseur N, Di Fiore F.

Oncotarget. 2016 Nov 15;7(46):74448-74459. doi: 10.18632/oncotarget.12950.

46.

BRCA1 allele-specific expression in genetic predisposed breast/ovarian cancer.

Jamard E, Volard B, Dugué AE, Legros A, Leconte A, Clarisse B, Davy G, Polycarpe F, Dugast C, Abadie C, Frebourg T, Tinat J, Tennevet I, Layet V, Joly F, Castéra L, Berthet P, Vaur D, Krieger S.

Fam Cancer. 2017 Apr;16(2):167-171. doi: 10.1007/s10689-016-9940-2.

PMID:
27783335
47.

Familial solitary chondrosarcoma resulting from germline EXT2 mutation.

Heddar A, Fermey P, Coutant S, Angot E, Sabourin JC, Michelin P, Parodi N, Charbonnier F, Vezain M, Bougeard G, Baert-Desurmont S, Frébourg T, Tournier I.

Genes Chromosomes Cancer. 2017 Feb;56(2):128-134. doi: 10.1002/gcc.22419. Epub 2016 Oct 25.

PMID:
27636706
48.

Genetic Association Studies of Suicidal Behavior: A Review of the Past 10 Years, Progress, Limitations, and Future Directions.

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