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Items: 1 to 20 of 156

1.

Comprehensive Assessment of BARD1 Messenger Ribonucleic Acid Splicing With Implications for Variant Classification.

Walker LC, Lattimore VL, Kvist A, Kleiblova P, Zemankova P, de Jong L, Wiggins GAR, Hakkaart C, Cree SL, Behar R, Houdayer C; kConFab Investigators, Parsons MT, Kennedy MA, Spurdle AB, de la Hoya M.

Front Genet. 2019 Nov 19;10:1139. doi: 10.3389/fgene.2019.01139. eCollection 2019.

2.

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.

3.

Longitudinal study describing time to Salmonella seroconversion in piglets on three farrow-to-finish farms.

Cevallos-Almeida M, Fablet C, Houdayer C, Dorenlor V, Eono F, Denis M, Kerouanton A.

Vet Rec Open. 2019 Oct 5;6(1):e000287. doi: 10.1136/vetreco-2018-000287. eCollection 2019.

4.

Osteosarcoma without prior retinoblastoma related to RB1 low-penetrance germline pathogenic variants: A novel type of RB1-related hereditary predisposition syndrome?

Imbert-Bouteille M, Gauthier-Villars M, Leroux D, Meunier I, Aerts I, Lumbroso-Le Rouic L, Lejeune S, Delnatte C, Abadie C, Pujol P, Houdayer C, Corsini C.

Mol Genet Genomic Med. 2019 Dec;7(12):e913. doi: 10.1002/mgg3.913. Epub 2019 Sep 30.

5.

Evaluation of the occurrence of sporulating and nonsporulating pathogenic bacteria in manure and in digestate of five agricultural biogas plants.

Le Maréchal C, Druilhe C, Repérant E, Boscher E, Rouxel S, Le Roux S, Poëzévara T, Ziebal C, Houdayer C, Nagard B, Barbut F, Pourcher AM, Denis M.

Microbiologyopen. 2019 Oct;8(10):e872. doi: 10.1002/mbo3.872. Epub 2019 Sep 30.

6.

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
7.

Prenatal diagnosis of Desbuquois dysplasia type 1 by whole exome sequencing before the occurrence of specific ultrasound signs.

Houdayer C, Ziegler A, Boussion F, Blesson S, Bris C, Toutain A, Biquard F, Guichet A, Bonneau D, Colin E.

J Matern Fetal Neonatal Med. 2019 Sep 12:1-4. doi: 10.1080/14767058.2019.1657084. [Epub ahead of print]

PMID:
31510824
8.

Confirmation that variants in TTI2 are responsible for autosomal recessive intellectual disability.

Ziegler A, Bader P, McWalter K, Douglas G, Houdayer C, Bris C, Rouleau S, Coutant R, Colin E, Bonneau D.

Clin Genet. 2019 Oct;96(4):354-358. doi: 10.1111/cge.13603. Epub 2019 Jul 17.

PMID:
31290144
9.

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

Parsons MT, Tudini E, Li H, Hahnen E, Wappenschmidt B, Feliubadaló L, Aalfs CM, Agata S, Aittomäki K, Alducci E, Alonso-Cerezo MC, Arnold N, Auber B, Austin R, Azzollini J, Balmaña J, Barbieri E, Bartram CR, Blanco A, Blümcke B, Bonache S, Bonanni B, Borg Å, Bortesi B, Brunet J, Bruzzone C, Bucksch K, Cagnoli G, Caldés T, Caliebe A, Caligo MA, Calvello M, Capone GL, Caputo SM, Carnevali I, Carrasco E, Caux-Moncoutier V, Cavalli P, Cini G, Clarke EM, Concolino P, Cops EJ, Cortesi L, Couch FJ, Darder E, de la Hoya M, Dean M, Debatin I, Del Valle J, Delnatte C, Derive N, Diez O, Ditsch N, Domchek SM, Dutrannoy V, Eccles DM, Ehrencrona H, Enders U, Evans DG, Farra C, Faust U, Felbor U, Feroce I, Fine M, Foulkes WD, Galvao HCR, Gambino G, Gehrig A, Gensini F, Gerdes AM, Germani A, Giesecke J, Gismondi V, Gómez C, Gómez Garcia EB, González S, Grau E, Grill S, Gross E, Guerrieri-Gonzaga A, Guillaud-Bataille M, Gutiérrez-Enríquez S, Haaf T, Hackmann K, Hansen TVO, Harris M, Hauke J, Heinrich T, Hellebrand H, Herold KN, Honisch E, Horvath J, Houdayer C, Hübbel V, Iglesias S, Izquierdo A, James PA, Janssen LAM, Jeschke U, Kaulfuß S, Keupp K, Kiechle M, Kölbl A, Krieger S, Kruse TA, Kvist A, Lalloo F, Larsen M, Lattimore VL, Lautrup C, Ledig S, Leinert E, Lewis AL, Lim J, Loeffler M, López-Fernández A, Lucci-Cordisco E, Maass N, Manoukian S, Marabelli M, Matricardi L, Meindl A, Michelli RD, Moghadasi S, Moles-Fernández A, Montagna M, Montalban G, Monteiro AN, Montes E, Mori L, Moserle L, Müller CR, Mundhenke C, Naldi N, Nathanson KL, Navarro M, Nevanlinna H, Nichols CB, Niederacher D, Nielsen HR, Ong KR, Pachter N, Palmero EI, Papi L, Pedersen IS, Peissel B, Perez-Segura P, Pfeifer K, Pineda M, Pohl-Rescigno E, Poplawski NK, Porfirio B, Quante AS, Ramser J, Reis RM, Revillion F, Rhiem K, Riboli B, Ritter J, Rivera D, Rofes P, Rump A, Salinas M, Sánchez de Abajo AM, Schmidt G, Schoenwiese U, Seggewiß J, Solanes A, Steinemann D, Stiller M, Stoppa-Lyonnet D, Sullivan KJ, Susman R, Sutter C, Tavtigian SV, Teo SH, Teulé A, Thomassen M, Tibiletti MG, Tischkowitz M, Tognazzo S, Toland AE, Tornero E, Törngren T, Torres-Esquius S, Toss A, Trainer AH, Tucker KM, van Asperen CJ, van Mackelenbergh MT, Varesco L, Vargas-Parra G, Varon R, Vega A, Velasco Á, Vesper AS, Viel A, Vreeswijk MPG, Wagner SA, Waha A, Walker LC, Walters RJ, Wang-Gohrke S, Weber BHF, Weichert W, Wieland K, Wiesmüller L, Witzel I, Wöckel A, Woodward ER, Zachariae S, Zampiga V, Zeder-Göß C; KConFab Investigators, Lázaro C, De Nicolo A, Radice P, Engel C, Schmutzler RK, Goldgar DE, Spurdle AB.

Hum Mutat. 2019 Sep;40(9):1557-1578. doi: 10.1002/humu.23818.

10.

First estimate of the scale of canonical 5' splice site GT>GC variants capable of generating wild-type transcripts.

Lin JH, Tang XY, Boulling A, Zou WB, Masson E, Fichou Y, Raud L, Le Tertre M, Deng SJ, Berlivet I, Ka C, Mort M, Hayden M, Leman R, Houdayer C, Le Gac G, Cooper DN, Li ZS, Férec C, Liao Z, Chen JM.

Hum Mutat. 2019 Oct;40(10):1856-1873. doi: 10.1002/humu.23821. Epub 2019 Jun 24.

PMID:
31131953
11.

Experimental infection of pigs by Salmonella Derby, S. Typhimurium and monophasic variant of S. Typhimurium: Comparison of colonization and serology.

Cevallos-Almeida M, Martin L, Houdayer C, Rose V, Guionnet JM, Paboeuf F, Denis M, Kerouanton A.

Vet Microbiol. 2019 Apr;231:147-153. doi: 10.1016/j.vetmic.2019.03.003. Epub 2019 Mar 6.

PMID:
30955802
12.

Bilateral retinoblastoma due to a germline mutation of RB1 in a child with down syndrome.

Le Grignou M, Bleriot A, Nizon M, Pacquement H, Houdayer C, Thebaud E, Le Meur G, Isidor B.

Ophthalmic Genet. 2019 Feb;40(1):86. doi: 10.1080/13816810.2019.1582070. No abstract available.

PMID:
30822236
13.

ART-DeCo: easy tool for detection and characterization of cross-contamination of DNA samples in diagnostic next-generation sequencing analysis.

Fiévet A, Bernard V, Tenreiro H, Dehainault C, Girard E, Deshaies V, Hupe P, Delattre O, Stern MH, Stoppa-Lyonnet D, Golmard L, Houdayer C.

Eur J Hum Genet. 2019 May;27(5):792-800. doi: 10.1038/s41431-018-0317-x. Epub 2019 Jan 25.

PMID:
30683922
14.

GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Pathogenic Variant Carriers.

Lesueur F, Mebirouk N, Jiao Y, Barjhoux L, Belotti M, Laurent M, Léone M, Houdayer C, Bressac-de Paillerets B, Vaur D, Sobol H, Noguès C, Longy M, Mortemousque I, Fert-Ferrer S, Mouret-Fourme E, Pujol P, Venat-Bouvet L, Bignon YJ, Leroux D, Coupier I, Berthet P, Mari V, Delnatte C, Gesta P, Collonge-Rame MA, Giraud S, Bonadona V, Baurand A, Faivre L, Buecher B, Lasset C, Gauthier-Villars M, Damiola F, Mazoyer S, Caputo SM, Andrieu N, Stoppa-Lyonnet D; GEMO Study Collaborators.

Front Oncol. 2018 Oct 31;8:490. doi: 10.3389/fonc.2018.00490. eCollection 2018. No abstract available.

15.

Corrigendum: Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.

Leman R, Gaildrat P, Gac GL, Ka C, Fichou Y, Audrezet MP, Caux-Moncoutier V, Caputo SM, Boutry-Kryza N, Léone M, Mazoyer S, Bonnet-Dorion F, Sevenet N, Guillaud-Bataille M, Rouleau E, Paillerets BB, Wappenschmidt B, Rossing M, Muller D, Bourdon V, Revillon F, Parsons MT, Rousselin A, Davy G, Castelain G, Castéra L, Sokolowska J, Coulet F, Delnatte C, Férec C, Spurdle AB, Martins A, Krieger S, Houdayer C.

Nucleic Acids Res. 2018 Nov 30;46(21):11656-11657. doi: 10.1093/nar/gky979. No abstract available.

16.

Boosting care and knowledge about hereditary cancer: European Reference Network on Genetic Tumour Risk Syndromes.

Vos JR, Giepmans L, Röhl C, Geverink N, Hoogerbrugge N; ERN GENTURIS.

Fam Cancer. 2019 Apr;18(2):281-284. doi: 10.1007/s10689-018-0110-6.

17.

Correlation between RB1germline mutations and second primary malignancies in hereditary retinoblastoma patients treated with external beam radiotherapy.

Chaussade A, Millot G, Wells C, Brisse H, Laé M, Savignoni A, Desjardins L, Dendale R, Doz F, Aerts I, Jimenez I, Cassoux N, Stoppa Lyonnet D, Gauthier Villars M, Houdayer C.

Eur J Med Genet. 2019 Mar;62(3):217-223. doi: 10.1016/j.ejmg.2018.07.017. Epub 2018 Jul 18.

PMID:
30031154
18.

Colonization of Pigs Experimentally Infected with a Monophasic Variant of Salmonella Typhimurium.

Cevallos-Almeida M, Houdayer C, Rose V, Bailly Y, Paboeuf F, Fablet C, Denis M, Kerouanton A.

Foodborne Pathog Dis. 2018 Sep;15(9):576-582. doi: 10.1089/fpd.2018.2427. Epub 2018 Jul 16.

PMID:
30010414
19.

Correction: Cost of cancer diagnosis using next-generation sequencing targeted gene panels in routine practice: a nationwide French study.

Marino P, Touzani R, Perrier L, Rouleau E, Kossi DS, Zhaomin Z, Charrier N, Goardon N, Preudhomme C, Durand-Zaleski I, Borget I, Baffert S; NGSEco Group:.

Eur J Hum Genet. 2018 Sep;26(9):1396-1397. doi: 10.1038/s41431-018-0194-3.

20.

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.

Leman R, Gaildrat P, Gac GL, Ka C, Fichou Y, Audrezet MP, Caux-Moncoutier V, Caputo SM, Boutry-Kryza N, Léone M, Mazoyer S, Bonnet-Dorion F, Sevenet N, Guillaud-Bataille M, Rouleau E, Bressac-de Paillerets B, Wappenschmidt B, Rossing M, Muller D, Bourdon V, Revillon F, Parsons MT, Rousselin A, Davy G, Castelain G, Castéra L, Sokolowska J, Coulet F, Delnatte C, Férec C, Spurdle AB, Martins A, Krieger S, Houdayer C.

Nucleic Acids Res. 2018 Sep 6;46(15):7913-7923. doi: 10.1093/nar/gky372. Erratum in: Nucleic Acids Res. 2018 Nov 30;46(21):11656-11657.

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