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Page 1
Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas.
Castro-Vega LJ, Buffet A, De Cubas AA, Cascón A, Menara M, Khalifa E, Amar L, Azriel S, Bourdeau I, Chabre O, Currás-Freixes M, Franco-Vidal V, Guillaud-Bataille M, Simian C, Morin A, Letón R, Gómez-Graña A, Pollard PJ, Rustin P, Robledo M, Favier J, Gimenez-Roqueplo AP. Castro-Vega LJ, et al. Hum Mol Genet. 2014 May 1;23(9):2440-6. doi: 10.1093/hmg/ddt639. Epub 2013 Dec 13. Hum Mol Genet. 2014. PMID: 24334767
TMEM127 screening in a large cohort of patients with pheochromocytoma and/or paraganglioma.
Abermil N, Guillaud-Bataille M, Burnichon N, Venisse A, Manivet P, Guignat L, Drui D, Chupin M, Josseaume C, Affres H, Plouin PF, Bertherat J, Jeunemaître X, Gimenez-Roqueplo AP. Abermil N, et al. J Clin Endocrinol Metab. 2012 May;97(5):E805-9. doi: 10.1210/jc.2011-3360. Epub 2012 Mar 14. J Clin Endocrinol Metab. 2012. PMID: 22419703
p.Ala541Thr variant of MEN1 gene: a non deleterious polymorphism or a pathogenic mutation?
Nozières C, Zhang CX, Buffet A, Dupasquier S, Vargas-Poussou R, Guillaud-Bataille M, Cordier-Bussat M, Ruszniewski P, Christin-Maitre S, Murat A, Groussin L, Vezzosi D, Cardot-Bauters C, Hervieu V, Joly MO, Giraud S, Odou MF, Gimenez-Roqueplo AP, Goudet P, Borson-Chazot F, Calender A; Groupe français des tumeurs endocrines (GTE). Nozières C, et al. Ann Endocrinol (Paris). 2014 Jul;75(3):133-40. doi: 10.1016/j.ando.2014.05.003. Epub 2014 Jul 2. Ann Endocrinol (Paris). 2014. PMID: 24997771
Reassessing the clinical spectrum associated with hereditary leiomyomatosis and renal cell carcinoma syndrome in French FH mutation carriers.
Muller M, Ferlicot S, Guillaud-Bataille M, Le Teuff G, Genestie C, Deveaux S, Slama A, Poulalhon N, Escudier B, Albiges L, Soufir N, Avril MF, Gardie B, Saldana C, Allory Y, Gimenez-Roqueplo AP, Bressac-de Paillerets B, Richard S, Benusiglio PR. Muller M, et al. Clin Genet. 2017 Dec;92(6):606-615. doi: 10.1111/cge.13014. Epub 2017 May 2. Clin Genet. 2017. PMID: 28300276
Nationwide French Study of RET Variants Detected from 2003 to 2013 Suggests a Possible Influence of Polymorphisms as Modifiers.
Lebeault M, Pinson S, Guillaud-Bataille M, Gimenez-Roqueplo AP, Carrie A, Barbu V, Pigny P, Bezieau S, Rey JM, Delvincourt C, Giraud S, Veyrat-Durebex C, Saulnier P, Bouzamondo N, Chabbert M, Blin J, Mohamed A, Romanet P, Borson-Chazot F, Rohmer V, Barlier A, Mirebeau-Prunier D. Lebeault M, et al. Thyroid. 2017 Dec;27(12):1511-1522. doi: 10.1089/thy.2016.0399. Epub 2017 Nov 3. Thyroid. 2017. PMID: 28946813
Pattern multiplicity and fumarate hydratase (FH)/S-(2-succino)-cysteine (2SC) staining but not eosinophilic nucleoli with perinucleolar halos differentiate hereditary leiomyomatosis and renal cell carcinoma-associated renal cell carcinomas from kidney tumors without FH gene alteration.
Muller M, Guillaud-Bataille M, Salleron J, Genestie C, Deveaux S, Slama A, de Paillerets BB, Richard S, Benusiglio PR, Ferlicot S. Muller M, et al. Mod Pathol. 2018 Jun;31(6):974-983. doi: 10.1038/s41379-018-0017-7. Epub 2018 Feb 6. Mod Pathol. 2018. PMID: 29410489 Free article.
Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach.
Caputo SM, Golmard L, Léone M, Damiola F, Guillaud-Bataille M, Revillion F, Rouleau E, Derive N, Buisson A, Basset N, Schwartz M, Vilquin P, Garrec C, Privat M, Gay-Bellile M, Abadie C, Abidallah K, Airaud F, Allary AS, Barouk-Simonet E, Belotti M, Benigni C, Benusiglio PR, Berthemin C, Berthet P, Bertrand O, Bézieau S, Bidart M, Bignon YJ, Birot AM, Blanluet M, Bloucard A, Bombled J, Bonadona V, Bonnet F, Bonnet-Dupeyron MN, Boulaire M, Boulouard F, Bouras A, Bourdon V, Brahimi A, Brayotel F, Bressac de Paillerets B, Bronnec N, Bubien V, Buecher B, Cabaret O, Carriere J, Chiesa J, Chieze-Valéro S, Cohen C, Cohen-Haguenauer O, Colas C, Collonge-Rame MA, Conoy AL, Coulet F, Coupier I, Crivelli L, Cusin V, De Pauw A, Dehainault C, Delhomelle H, Delnatte C, Demontety S, Denizeau P, Devulder P, Dreyfus H, d'Enghein CD, Dupré A, Durlach A, Dussart S, Fajac A, Fekairi S, Fert-Ferrer S, Fiévet A, Fouillet R, Mouret-Fourme E, Gauthier-Villars M, Gesta P, Giraud S, Gladieff L, Goldbarg V, Goussot V, Guibert V, Guillerm E, Guy C, Hardouin A, Heude C, Houdayer C, Ingster O, Jacquot-Sawka C, Jones N, Krieger S, Lacoste S, Lallaoui H, Larbre H, Laugé A, Le Guyadec G, Le Mentec M, Lecerf… See abstract for full author list ➔ Caputo SM, et al. Among authors: guillaud bataille m. Am J Hum Genet. 2021 Oct 7;108(10):1907-1923. doi: 10.1016/j.ajhg.2021.09.003. Epub 2021 Sep 30. Am J Hum Genet. 2021. PMID: 34597585 Free PMC article.
Screening in asymptomatic SDHx mutation carriers: added value of ¹⁸F-FDG PET/CT at initial diagnosis and 1-year follow-up.
Lepoutre-Lussey C, Caramella C, Bidault F, Déandreis D, Berdelou A, Al Ghuzlan A, Hartl D, Borget I, Gimenez-Roqueplo AP, Dumont F, Deschamps F, Nascimento C, Lumbroso J, Guillaud Bataille M, Schlumberger M, Baudin E, Leboulleux S. Lepoutre-Lussey C, et al. Eur J Nucl Med Mol Imaging. 2015 May;42(6):868-76. doi: 10.1007/s00259-015-3003-z. Epub 2015 Feb 13. Eur J Nucl Med Mol Imaging. 2015. PMID: 25676472
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. Davy G, et al. Eur J Hum Genet. 2017 Oct;25(10):1147-1154. doi: 10.1038/ejhg.2017.116. Epub 2017 Jul 26. Eur J Hum Genet. 2017. PMID: 28905878 Free PMC article.
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,… See abstract for full author list ➔ Parsons MT, et al. Hum Mutat. 2019 Sep;40(9):1557-1578. doi: 10.1002/humu.23818. Hum Mutat. 2019. PMID: 31131967 Free PMC article.
60 results