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Items: 1 to 50 of 148

1.

Correspondence for "clinical epidemiology of familial sarcoidosis: A systematic literature review".

Calender A, Valeyre D, Israel-Biet D, Pacheco Y.

Respir Med. 2019 Jun 10. pii: S0954-6111(19)30183-0. doi: 10.1016/j.rmed.2019.06.002. [Epub ahead of print] No abstract available.

PMID:
31202573
2.

Exome sequencing and pathogenicity-network analysis of five French families implicate mTOR signalling and autophagy in familial sarcoidosis.

Calender A, Lim CX, Weichhart T, Buisson A, Besnard V, Rollat-Farnier PA, Bardel C, Roy P, Cottin V, Devouassoux G, Finat A, Pinson S, Lebecque S, Nunes H, Israel-Biet D, Bentaher A, Valeyre D, Pacheco Y; in the frame of GSF (Group Sarcoidosis France).

Eur Respir J. 2019 Aug 1;54(2). pii: 1900430. doi: 10.1183/13993003.00430-2019. Print 2019 Aug. No abstract available.

PMID:
31023854
3.

Paediatric sarcoidosis.

Nathan N, Sileo C, Calender A, Pacheco Y, Rosental PA, Cavalin C, Macchi O, Valeyre D, Clement A; French Sarcoidosis Group (GSF); Silicosis Research Group.

Paediatr Respir Rev. 2019 Feb;29:53-59. doi: 10.1016/j.prrv.2018.05.003. Epub 2018 May 19. Review.

PMID:
30917882
4.

BTNL2 gene polymorphism and sarcoid uveitis.

Chaperon M, Pacheco Y, Maucort-Boulch D, Iwaz J, Perard L, Broussolle C, Jamilloux Y, Burillon C, Kodjikian L, Calender A, Seve P.

Br J Ophthalmol. 2019 Mar 14. pii: bjophthalmol-2018-312949. doi: 10.1136/bjophthalmol-2018-312949. [Epub ahead of print]

PMID:
30872286
5.

Proposition of adjustments to the ACMG-AMP framework for the interpretation of MEN1 missense variants.

Romanet P, Odou MF, North MO, Saveanu A, Coppin L, Pasmant E, Mohamed A, Goudet P, Borson-Chazot F, Calender A, Béroud C, Lévy N, Giraud S, Barlier A.

Hum Mutat. 2019 Jun;40(6):661-674. doi: 10.1002/humu.23746. Epub 2019 Mar 28.

PMID:
30869828
6.

UMD-MEN1 Database: An Overview of the 370 MEN1 Variants Present in 1676 Patients From the French Population.

Romanet P, Mohamed A, Giraud S, Odou MF, North MO, Pertuit M, Pasmant E, Coppin L, Guien C, Calender A, Borson-Chazot F, Béroud C, Goudet P, Barlier A.

J Clin Endocrinol Metab. 2019 Mar 1;104(3):753-764. doi: 10.1210/jc.2018-01170.

PMID:
30339208
7.

G908R NOD2 variant in a family with sarcoidosis.

Besnard V, Calender A, Bouvry D, Pacheco Y, Chapelon-Abric C, Jeny F, Nunes H, Planès C, Valeyre D.

Respir Res. 2018 Mar 20;19(1):44. doi: 10.1186/s12931-018-0748-5.

8.

Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.

Calender A, Rollat Farnier PA, Buisson A, Pinson S, Bentaher A, Lebecque S, Corvol H, Abou Taam R, Houdouin V, Bardel C, Roy P, Devouassoux G, Cottin V, Seve P, Bernaudin JF, Lim CX, Weichhart T, Valeyre D, Pacheco Y, Clement A, Nathan N; in the frame of GSF (Groupe Sarcoïdose France).

BMC Med Genomics. 2018 Mar 6;11(1):23. doi: 10.1186/s12920-018-0338-x.

9.

Granulomatous lung inflammation is nanoparticle type-dependent.

Pacheco Y, Ponchon M, Lebecque S, Calender A, Bernaudin JF, Valeyre D, Iglarz M, Strasser DS, Studer R, Freti D, Renno T, Bentaher A.

Exp Lung Res. 2018 Feb;44(1):25-39. doi: 10.1080/01902148.2017.1412541. Epub 2018 Jan 11.

PMID:
29324063
10.

Asperger syndrome and early-onset schizophrenia associated with a novel MECP2 deleterious missense variant.

Curie A, Lesca G, Bussy G, Manificat S, Arnaud V, Gonzalez S, Revol O, Calender A, Gérard D, des Portes V.

Psychiatr Genet. 2017 Jun;27(3):105-109. doi: 10.1097/YPG.0000000000000165.

PMID:
28230711
11.

Genetic mutation risk calculation in Lynch syndrome inheritance: Evaluating the utility of the PREMM1,2,6 model in Lyon: The first French study.

Aissaoui S, Cartellier C, Seytier T, Giraud S, Calender A.

Bull Cancer. 2017 Mar;104(3):288-294. doi: 10.1016/j.bulcan.2016.11.017. Epub 2016 Dec 27. Review.

PMID:
28038733
12.

Familial vs. sporadic sarcoidosis: BTNL2 polymorphisms, clinical presentations, and outcomes in a French cohort.

Pacheco Y, Calender A, Israël-Biet D, Roy P, Lebecque S, Cottin V, Bouvry D, Nunes H, Sève P, Pérard L, Devouassoux G, Freymond N, Khouatra C, Wallaert B, Lamy R, Elsensohn MH, Bardel C, Valeyre D; GSF group.

Orphanet J Rare Dis. 2016 Dec 3;11(1):165.

13.

Comparison of two next-generation sequencing kits for diagnosis of epileptic disorders with a user-friendly tool for displaying gene coverage, DeCovA.

Dimassi S, Simonet T, Labalme A, Boutry-Kryza N, Campan-Fournier A, Lamy R, Bardel C, Elsensohn MH, Roucher-Boulez F, Chatron N, Putoux A, de Bellescize J, Ville D, Schaeffer L, Roy P, Mougou-Zerelli S, Saad A, Calender A, Sanlaville D, Lesca G.

Appl Transl Genom. 2015 Oct 17;7:19-25. doi: 10.1016/j.atg.2015.10.001. eCollection 2015 Dec.

14.

Unraveling the intrafamilial correlations and heritability of tumor types in MEN1: a Groupe d'étude des Tumeurs Endocrines study.

Thevenon J, Bourredjem A, Faivre L, Cardot-Bauters C, Calender A, Le Bras M, Giraud S, Niccoli P, Odou MF, Borson-Chazot F, Barlier A, Lombard-Bohas C, Clauser E, Tabarin A, Pasmant E, Chabre O, Castermans E, Ruszniewski P, Bertherat J, Delemer B, Christin-Maitre S, Beckers A, Guilhem I, Rohmer V, Goichot B, Caron P, Baudin E, Chanson P, Groussin L, Du Boullay H, Weryha G, Lecomte P, Schillo F, Bihan H, Archambeaud F, Kerlan V, Bourcigaux N, Kuhn JM, Vergès B, Rodier M, Renard M, Sadoul JL, Binquet C, Goudet P.

Eur J Endocrinol. 2015 Dec;173(6):819-26. doi: 10.1530/EJE-15-0691. Epub 2015 Sep 21.

PMID:
26392472
15.

Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.

Dimassi S, Labalme A, Ville D, Calender A, Mignot C, Boutry-Kryza N, de Bellescize J, Rivier-Ringenbach C, Bourel-Ponchel E, Cheillan D, Simonet T, Maincent K, Rossi M, Till M, Mougou-Zerelli S, Edery P, Saad A, Heron D, des Portes V, Sanlaville D, Lesca G.

Clin Genet. 2016 Feb;89(2):198-204. doi: 10.1111/cge.12636. Epub 2015 Jul 30.

PMID:
26138355
16.

Molecular characterization of a cohort of 73 patients with infantile spasms syndrome.

Boutry-Kryza N, Labalme A, Ville D, de Bellescize J, Touraine R, Prieur F, Dimassi S, Poulat AL, Till M, Rossi M, Bourel-Ponchel E, Delignières A, Le Moing AG, Rivier C, des Portes V, Edery P, Calender A, Sanlaville D, Lesca G.

Eur J Med Genet. 2015 Feb;58(2):51-8. doi: 10.1016/j.ejmg.2014.11.007. Epub 2014 Dec 11.

PMID:
25497044
17.

Lack of correlation of BTNL2 polymorphism and cancer risk in sarcoidosis. BTNL2 and cancer risk in sarcoidosis.

Gaillot-Drevon M, Calender A, Blay JY, Valeyre D, Israel-Biet D, Roy P, Pacheco Y.

Sarcoidosis Vasc Diffuse Lung Dis. 2014 Jul 8;31(2):136-41.

PMID:
25078641
18.

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).

Ann Endocrinol (Paris). 2014 Jul;75(3):133-40. doi: 10.1016/j.ando.2014.05.003. Epub 2014 Jul 2.

PMID:
24997771
19.

Complex mosaic CDKL5 deletion with two distinct mutant alleles in a 4-year-old girl.

Boutry-Kryza N, Ville D, Labalme A, Calender A, Dupont JM, Touraine R, Edery P, des Portes V, Sanlaville D, Lesca G.

Am J Med Genet A. 2014 Aug;164A(8):2025-8. doi: 10.1002/ajmg.a.36547. Epub 2014 Apr 8.

PMID:
24715584
20.

Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1A.

Soldovieri MV, Boutry-Kryza N, Milh M, Doummar D, Heron B, Bourel E, Ambrosino P, Miceli F, De Maria M, Dorison N, Auvin S, Echenne B, Oertel J, Riquet A, Lambert L, Gerard M, Roubergue A, Calender A, Mignot C, Taglialatela M, Lesca G.

Hum Mutat. 2014 Mar;35(3):356-67. doi: 10.1002/humu.22500. Epub 2014 Jan 13.

PMID:
24375629
21.

Metabolic expressivity of human genetic variants: NMR metabotyping of MEN1 pathogenic mutants.

Blaise BJ, Lopez C, Vercherat C, Lacheretz-Bernigaud A, Bayet-Robert M, Rezig L, Scoazec JY, Calender A, Emsley L, Elena-Herrmann B, Cordier-Bussat M.

J Pharm Biomed Anal. 2014 May;93:118-24. doi: 10.1016/j.jpba.2013.09.029. Epub 2013 Oct 16.

PMID:
24183932
22.

[Role of T lymphocyte cyclic nucleotides and G protein in sarcoidosis].

Pacheco Y, Calender A, Valeyre D, Lebecque S.

Rev Mal Respir. 2013 Oct;30(8):644-56. doi: 10.1016/j.rmr.2013.06.003. Epub 2013 Aug 1. Review. French.

PMID:
24182651
23.

Altered MENIN expression disrupts the MAFA differentiation pathway in insulinoma.

Hamze Z, Vercherat C, Bernigaud-Lacheretz A, Bazzi W, Bonnavion R, Lu J, Calender A, Pouponnot C, Bertolino P, Roche C, Stein R, Scoazec JY, Zhang CX, Cordier-Bussat M.

Endocr Relat Cancer. 2013 Oct 24;20(6):833-48. doi: 10.1530/ERC-13-0164. Print 2013 Dec.

24.

Development of multidisciplinary committees for decision making and care management in hereditary colon cancer: the French state of the art.

Aissaoui S, Aissaoui H, Giraud S, Pinson S, Calender A.

J Community Genet. 2014 Apr;5(2):185-9. doi: 10.1007/s12687-013-0167-8. Epub 2013 Sep 10.

25.

Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.

Couch FJ, Wang X, McGuffog L, Lee A, Olswold C, Kuchenbaecker KB, Soucy P, Fredericksen Z, Barrowdale D, Dennis J, Gaudet MM, Dicks E, Kosel M, Healey S, Sinilnikova OM, Lee A, Bacot F, Vincent D, Hogervorst FB, Peock S, Stoppa-Lyonnet D, Jakubowska A; kConFab Investigators, Radice P, Schmutzler RK; SWE-BRCA, Domchek SM, Piedmonte M, Singer CF, Friedman E, Thomassen M; Ontario Cancer Genetics Network, Hansen TV, Neuhausen SL, Szabo CI, Blanco I, Greene MH, Karlan BY, Garber J, Phelan CM, Weitzel JN, Montagna M, Olah E, Andrulis IL, Godwin AK, Yannoukakos D, Goldgar DE, Caldes T, Nevanlinna H, Osorio A, Terry MB, Daly MB, van Rensburg EJ, Hamann U, Ramus SJ, Toland AE, Caligo MA, Olopade OI, Tung N, Claes K, Beattie MS, Southey MC, Imyanitov EN, Tischkowitz M, Janavicius R, John EM, Kwong A, Diez O, Balmaña J, Barkardottir RB, Arun BK, Rennert G, Teo SH, Ganz PA, Campbell I, van der Hout AH, van Deurzen CH, Seynaeve C, Gómez Garcia EB, van Leeuwen FE, Meijers-Heijboer HE, Gille JJ, Ausems MG, Blok MJ, Ligtenberg MJ, Rookus MA, Devilee P, Verhoef S, van Os TA, Wijnen JT; HEBON; EMBRACE, Frost D, Ellis S, Fineberg E, Platte R, Evans DG, Izatt L, Eeles RA, Adlard J, Eccles DM, Cook J, Brewer C, Douglas F, Hodgson S, Morrison PJ, Side LE, Donaldson A, Houghton C, Rogers MT, Dorkins H, Eason J, Gregory H, McCann E, Murray A, Calender A, Hardouin A, Berthet P, Delnatte C, Nogues C, Lasset C, Houdayer C, Leroux D, Rouleau E, Prieur F, Damiola F, Sobol H, Coupier I, Venat-Bouvet L, Castera L, Gauthier-Villars M, Léoné M, Pujol P, Mazoyer S, Bignon YJ; GEMO Study Collaborators, Złowocka-Perłowska E, Gronwald J, Lubinski J, Durda K, Jaworska K, Huzarski T, Spurdle AB, Viel A, Peissel B, Bonanni B, Melloni G, Ottini L, Papi L, Varesco L, Tibiletti MG, Peterlongo P, Volorio S, Manoukian S, Pensotti V, Arnold N, Engel C, Deissler H, Gadzicki D, Gehrig A, Kast K, Rhiem K, Meindl A, Niederacher D, Ditsch N, Plendl H, Preisler-Adams S, Engert S, Sutter C, Varon-Mateeva R, Wappenschmidt B, Weber BH, Arver B, Stenmark-Askmalm M, Loman N, Rosenquist R, Einbeigi Z, Nathanson KL, Rebbeck TR, Blank SV, Cohn DE, Rodriguez GC, Small L, Friedlander M, Bae-Jump VL, Fink-Retter A, Rappaport C, Gschwantler-Kaulich D, Pfeiler G, Tea MK, Lindor NM, Kaufman B, Shimon Paluch S, Laitman Y, Skytte AB, Gerdes AM, Pedersen IS, Moeller ST, Kruse TA, Jensen UB, Vijai J, Sarrel K, Robson M, Kauff N, Mulligan AM, Glendon G, Ozcelik H, Ejlertsen B, Nielsen FC, Jønson L, Andersen MK, Ding YC, Steele L, Foretova L, Teulé A, Lazaro C, Brunet J, Pujana MA, Mai PL, Loud JT, Walsh C, Lester J, Orsulic S, Narod SA, Herzog J, Sand SR, Tognazzo S, Agata S, Vaszko T, Weaver J, Stavropoulou AV, Buys SS, Romero A, de la Hoya M, Aittomäki K, Muranen TA, Duran M, Chung WK, Lasa A, Dorfling CM, Miron A; BCFR, Benitez J, Senter L, Huo D, Chan SB, Sokolenko AP, Chiquette J, Tihomirova L, Friebel TM, Agnarsson BA, Lu KH, Lejbkowicz F, James PA, Hall P, Dunning AM, Tessier D, Cunningham J, Slager SL, Wang C, Hart S, Stevens K, Simard J, Pastinen T, Pankratz VS, Offit K, Easton DF, Chenevix-Trench G, Antoniou AC; CIMBA.

PLoS Genet. 2013;9(3):e1003212. doi: 10.1371/journal.pgen.1003212. Epub 2013 Mar 27.

26.

Higher risk of death among MEN1 patients with mutations in the JunD interacting domain: a Groupe d'etude des Tumeurs Endocrines (GTE) cohort study.

Thevenon J, Bourredjem A, Faivre L, Cardot-Bauters C, Calender A, Murat A, Giraud S, Niccoli P, Odou MF, Borson-Chazot F, Barlier A, Lombard-Bohas C, Clauser E, Tabarin A, Parfait B, Chabre O, Castermans E, Beckers A, Ruszniewski P, Le Bras M, Delemer B, Bouchard P, Guilhem I, Rohmer V, Goichot B, Caron P, Baudin E, Chanson P, Groussin L, Du Boullay H, Weryha G, Lecomte P, Penfornis A, Bihan H, Archambeaud F, Kerlan V, Duron F, Kuhn JM, Vergès B, Rodier M, Renard M, Sadoul JL, Binquet C, Goudet P.

Hum Mol Genet. 2013 May 15;22(10):1940-8. doi: 10.1093/hmg/ddt039. Epub 2013 Jan 31.

27.

BRCA2 deep intronic mutation causing activation of a cryptic exon: opening toward a new preventive therapeutic strategy.

Anczuków O, Buisson M, Léoné M, Coutanson C, Lasset C, Calender A, Sinilnikova OM, Mazoyer S.

Clin Cancer Res. 2012 Sep 15;18(18):4903-9. doi: 10.1158/1078-0432.CCR-12-1100. Epub 2012 Jul 2.

28.

Screening of mutations in genes that predispose to hereditary paragangliomas and pheochromocytomas.

Lefebvre S, Borson-Chazot F, Boutry-Kryza N, Wion N, Schillo F, Peix JL, Brunaud L, Finat A, Calender A, Giraud S.

Horm Metab Res. 2012 May;44(5):334-8. doi: 10.1055/s-0032-1306308. Epub 2012 Apr 19.

PMID:
22517554
29.

Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers.

Antoniou AC, Kuchenbaecker KB, Soucy P, Beesley J, Chen X, McGuffog L, Lee A, Barrowdale D, Healey S, Sinilnikova OM, Caligo MA, Loman N, Harbst K, Lindblom A, Arver B, Rosenquist R, Karlsson P, Nathanson K, Domchek S, Rebbeck T, Jakubowska A, Lubinski J, Jaworska K, Durda K, Złowowcka-Perłowska E, Osorio A, Durán M, Andrés R, Benítez J, Hamann U, Hogervorst FB, van Os TA, Verhoef S, Meijers-Heijboer HE, Wijnen J, Gómez Garcia EB, Ligtenberg MJ, Kriege M, Collée JM, Ausems MG, Oosterwijk JC, Peock S, Frost D, Ellis SD, Platte R, Fineberg E, Evans DG, Lalloo F, Jacobs C, Eeles R, Adlard J, Davidson R, Cole T, Cook J, Paterson J, Douglas F, Brewer C, Hodgson S, Morrison PJ, Walker L, Rogers MT, Donaldson A, Dorkins H, Godwin AK, Bove B, Stoppa-Lyonnet D, Houdayer C, Buecher B, de Pauw A, Mazoyer S, Calender A, Léoné M, Bressac-de Paillerets B, Caron O, Sobol H, Frenay M, Prieur F, Ferrer SU, Mortemousque I, Buys S, Daly M, Miron A, Terry MU, Hopper JL, John EM, Southey M, Goldgar D, Singer CF, Fink-Retter A, Tea MK, Kaulich DU, Hansen TV, Nielsen FC, Barkardottir RB, Gaudet M, Kirchhoff T, Joseph V, Dutra-Clarke A, Offit K, Piedmonte M, Kirk J, Cohn D, Hurteau J, Byron J, Fiorica J, Toland AE, Montagna M, Oliani C, Imyanitov E, Isaacs C, Tihomirova L, Blanco I, Lazaro C, Teulé A, Valle JD, Gayther SA, Odunsi K, Gross J, Karlan BY, Olah E, Teo SH, Ganz PA, Beattie MS, Dorfling CM, van Rensburg EU, Diez O, Kwong A, Schmutzler RK, Wappenschmidt B, Engel C, Meindl A, Ditsch N, Arnold N, Heidemann S, Niederacher D, Preisler-Adams S, Gadzicki D, Varon-Mateeva R, Deissler H, Gehrig A, Sutter C, Kast K, Fiebig B, Schäfer D, Caldes T, de la Hoya M, Nevanlinna H, Muranen TA, Lespérance B, Spurdle AB, Neuhausen SL, Ding YC, Wang X, Fredericksen Z, Pankratz VS, Lindor NM, Peterlongo P, Manoukian S, Peissel B, Zaffaroni D, Bonanni B, Bernard L, Dolcetti R, Papi L, Ottini L, Radice P, Greene MH, Loud JT, Andrulis IL, Ozcelik H, Mulligan AU, Glendon G, Thomassen M, Gerdes AM, Jensen UB, Skytte AB, Kruse TA, Chenevix-Trench G, Couch FJ, Simard J, Easton DF; CIMBA, SWE-BRCA; HEBON; EMBRACE; GEMO Collaborators Study; kConFab Investigators.

Breast Cancer Res. 2012 Feb 20;14(1):R33.

30.

Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers.

Ramus SJ, Antoniou AC, Kuchenbaecker KB, Soucy P, Beesley J, Chen X, McGuffog L, Sinilnikova OM, Healey S, Barrowdale D, Lee A, Thomassen M, Gerdes AM, Kruse TA, Jensen UB, Skytte AB, Caligo MA, Liljegren A, Lindblom A, Olsson H, Kristoffersson U, Stenmark-Askmalm M, Melin B; SWE-BRCA, Domchek SM, Nathanson KL, Rebbeck TR, Jakubowska A, Lubinski J, Jaworska K, Durda K, Złowocka E, Gronwald J, Huzarski T, Byrski T, Cybulski C, Toloczko-Grabarek A, Osorio A, Benitez J, Duran M, Tejada MI, Hamann U, Rookus M, van Leeuwen FE, Aalfs CM, Meijers-Heijboer HE, van Asperen CJ, van Roozendaal KE, Hoogerbrugge N, Collée JM, Kriege M, van der Luijt RB; HEBON; EMBRACE, Peock S, Frost D, Ellis SD, Platte R, Fineberg E, Evans DG, Lalloo F, Jacobs C, Eeles R, Adlard J, Davidson R, Eccles D, Cole T, Cook J, Paterson J, Douglas F, Brewer C, Hodgson S, Morrison PJ, Walker L, Porteous ME, Kennedy MJ, Pathak H, Godwin AK, Stoppa-Lyonnet D, Caux-Moncoutier V, de Pauw A, Gauthier-Villars M, Mazoyer S, Léoné M, Calender A, Lasset C, Bonadona V, Hardouin A, Berthet P, Bignon YJ, Uhrhammer N, Faivre L, Loustalot C; GEMO, Buys S, Daly M, Miron A, Terry MB, Chung WK, John EM, Southey M, Goldgar D, Singer CF, Tea MK, Pfeiler G, Fink-Retter A, Hansen Tv, Ejlertsen B, Johannsson OT, Offit K, Kirchhoff T, Gaudet MM, Vijai J, Robson M, Piedmonte M, Phillips KA, Van Le L, Hoffman JS, Ewart Toland A, Montagna M, Tognazzo S, Imyanitov E, Issacs C, Janavicius R, Lazaro C, Blanco I, Tornero E, Navarro M, Moysich KB, Karlan BY, Gross J, Olah E, Vaszko T, Teo SH, Ganz PA, Beattie MS, Dorfling CM, van Rensburg EJ, Diez O, Kwong A, Schmutzler RK, Wappenschmidt B, Engel C, Meindl A, Ditsch N, Arnold N, Heidemann S, Niederacher D, Preisler-Adams S, Gadzicki D, Varon-Mateeva R, Deissler H, Gehrig A, Sutter C, Kast K, Fiebig B, Schäfer D, Caldes T, de la Hoya M, Nevanlinna H, Aittomäki K, Plante M, Spurdle AB; kConFab, Neuhausen SL, Ding YC, Wang X, Lindor N, Fredericksen Z, Pankratz VS, Peterlongo P, Manoukian S, Peissel B, Zaffaroni D, Bonanni B, Bernard L, Dolcetti R, Papi L, Ottini L, Radice P, Greene MH, Mai PL, Andrulis IL, Glendon G, Ozcelik H; OCGN, Pharoah PD, Gayther SA, Simard J, Easton DF, Couch FJ, Chenevix-Trench G; Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).

Hum Mutat. 2012 Apr;33(4):690-702. doi: 10.1002/humu.22025. Epub 2012 Feb 14.

31.

[Multiple spontaneous pneumothoraces revealing Birt-Hogg-Dube syndrome].

Van Denhove A, Guillot-Pouget I, Giraud S, Isaac S, Freymond N, Calender A, Pacheco Y, Devouassoux G.

Rev Mal Respir. 2011 Mar;28(3):355-9. doi: 10.1016/j.rmr.2010.08.015. Epub 2011 Feb 23. French.

PMID:
21482341
32.

[Genomic profiling by comparative genomic hybridization: analysis of ten enucleated uveal melanoma cases].

Abi-Ayad N, Couturier J, Devouassoux-Shisheboran M, Grange JD, Kodjikian L, Calender A.

J Fr Ophtalmol. 2011 Jan;34(1):17-23. doi: 10.1016/j.jfo.2010.10.013. Epub 2010 Dec 8. French.

33.

Nonsense-mediated mRNA decay (NMD) blockage promotes nonsense mRNA stabilization in protein 4.1R deficient cells carrying the 4.1R Coimbra variant of hereditary elliptocytosis.

Morinière M, Delhommeau F, Calender A, Ribeiro L, Delaunay J, Baklouti F.

Blood Cells Mol Dis. 2010 Dec 15;45(4):284-8. doi: 10.1016/j.bcmd.2010.08.011. Epub 2010 Sep 21.

PMID:
20863723
34.

Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease.

Lesca G, Boutry-Kryza N, de Toffol B, Milh M, Steschenko D, Lemesle-Martin M, Maillard L, Foletti G, Rudolf G, Nielsen JE, á Rogvi-Hansen B, Erdal J, Mancini J, Thauvin-Robinet C, M'Rrabet A, Ville D, Szepetowski P, Raffo E, Hirsch E, Ryvlin P, Calender A, Genton P.

Epilepsia. 2010 Sep;51(9):1691-8. doi: 10.1111/j.1528-1167.2010.02692.x. Epub 2010 Aug 5.

35.

[Multiple endocrine neoplasia: genetic aspects].

Calender A; Groupe d'étude des Tumeurs Endocrines.

Bull Acad Natl Med. 2010 Jan;194(1):81-95; discussion 95-6. Review. French.

PMID:
20669561
36.

Homozygous variant rs2076530 of BTNL2 and familial sarcoidosis.

Coudurier M, Freymond N, Aissaoui S, Calender A, Pacheco Y, Devouassoux G.

Sarcoidosis Vasc Diffuse Lung Dis. 2009 Jul;26(2):162-6.

PMID:
20560297
37.

Mutations and polymorphisms in the gene encoding regulatory subunit type 1-alpha of protein kinase A (PRKAR1A): an update.

Horvath A, Bertherat J, Groussin L, Guillaud-Bataille M, Tsang K, Cazabat L, Libé R, Remmers E, René-Corail F, Faucz FR, Clauser E, Calender A, Bertagna X, Carney JA, Stratakis CA.

Hum Mutat. 2010 Apr;31(4):369-79. doi: 10.1002/humu.21178.

38.

High diagnostic and clinical impact of small-bowel capsule endoscopy in patients with hereditary hemorrhagic telangiectasia with overt digestive bleeding and/or severe anemia.

Grève E, Moussata D, Gaudin JL, Lapalus MG, Giraud S, Dupuis-Girod S, Calender A, Plauchu H, Saurin JC.

Gastrointest Endosc. 2010 Apr;71(4):760-7. doi: 10.1016/j.gie.2009.11.004. Epub 2010 Feb 18.

PMID:
20170910
39.

Intracranial ependymoma associated with multiple endocrine neoplasia type 1.

Al-Salameh A, François P, Giraud S, Calender A, Bergemer-Fouquet AM, de Calan L, Goudet P, Lecomte P.

J Endocrinol Invest. 2010 May;33(5):353-6. doi: 10.3275/6813. Epub 2010 Feb 5. No abstract available.

PMID:
20142633
40.

Alpha cell-specific Men1 ablation triggers the transdifferentiation of glucagon-expressing cells and insulinoma development.

Lu J, Herrera PL, Carreira C, Bonnavion R, Seigne C, Calender A, Bertolino P, Zhang CX.

Gastroenterology. 2010 May;138(5):1954-65. doi: 10.1053/j.gastro.2010.01.046. Epub 2010 Feb 2.

PMID:
20138042
41.

Thymic neuroendocrine tumors in multiple endocrine neoplasia type 1: a comparative study on 21 cases among a series of 761 MEN1 from the GTE (Groupe des Tumeurs Endocrines).

Goudet P, Murat A, Cardot-Bauters C, Emy P, Baudin E, du Boullay Choplin H, Chapuis Y, Kraimps JL, Sadoul JL, Tabarin A, Vergès B, Carnaille B, Niccoli-Sire P, Costa A, Calender A; GTE network (Groupe des Tumeurs Endocrines).

World J Surg. 2009 Jun;33(6):1197-207. doi: 10.1007/s00268-009-9980-y.

PMID:
19294466
42.

Mutations in regulatory subunit type 1A of cyclic adenosine 5'-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes.

Bertherat J, Horvath A, Groussin L, Grabar S, Boikos S, Cazabat L, Libe R, René-Corail F, Stergiopoulos S, Bourdeau I, Bei T, Clauser E, Calender A, Kirschner LS, Bertagna X, Carney JA, Stratakis CA.

J Clin Endocrinol Metab. 2009 Jun;94(6):2085-91. doi: 10.1210/jc.2008-2333. Epub 2009 Mar 17.

43.

A novel three base-pair LGI1 deletion leading to loss of function in a family with autosomal dominant lateral temporal epilepsy and migraine-like episodes.

de Bellescize J, Boutry N, Chabrol E, André-Obadia N, Arzimanoglou A, Leguern E, Baulac S, Calender A, Ryvlin P, Lesca G.

Epilepsy Res. 2009 Jul;85(1):118-22. doi: 10.1016/j.eplepsyres.2009.02.007. Epub 2009 Mar 5.

PMID:
19268539
44.

The p.Asp216His TOR1A allele effect is not found in the French population.

Frédéric MY, Clot F, Blanchard A, Dhaenens CM, Lesca G, Cif L, Dürr A, Vidailhet M, Sablonniere B, Calender A, Martinez M, Molinari N, Brice A, Claustres M, Tuffery-Giraud S, Collod-Beroud G.

Mov Disord. 2009 Apr 30;24(6):919-21. doi: 10.1002/mds.22407.

45.

The syndrome of gastric carcinoid and hyperparathyroidism: a family study and literature review.

Christopoulos C, Balatsos V, Rotas E, Karoumpalis I, Papavasileiou D, Kontogeorgos G, Dupasquier S, Calender A, Skandalis N, Economopoulos P.

Eur J Endocrinol. 2009 Apr;160(4):689-94. doi: 10.1530/EJE-08-0867. Epub 2009 Jan 20.

PMID:
19155316
46.

MEN1 missense mutations impair sensitization to apoptosis induced by wild-type menin in endocrine pancreatic tumor cells.

Bazzi W, Renon M, Vercherat C, Hamze Z, Lacheretz-Bernigaud A, Wang H, Blanc M, Roche C, Calender A, Chayvialle JA, Scoazec JY, Cordier-Bussat M.

Gastroenterology. 2008 Nov;135(5):1698-1709.e2. doi: 10.1053/j.gastro.2008.07.031. Epub 2008 Jul 31.

PMID:
18775714
47.

Is the early-onset torsion dystonia (EOTD) linked to TOR1A gene as frequent as expected in France?

Frédéric MY, Clot F, Cif L, Blanchard A, Dürr A, Vuillaume I, Lesca G, Kreisler A, Davin C, Besnard T, Rousset F, Thorel D, Saquet C, Mechin D, Ozelius L, Agid Y, Barroso B, Chabrol B, Chan V, Clanet M, Coubes C, Destee A, Nguyen K, Vial C, Vidailhet M, Xie J, Sablonniere B, Calender A, Brice A, Roubertie A, Coubes P, Claustres M, Tuffery-Giraud S, Collod-Beroud G.

Neurogenetics. 2008 May;9(2):143-50. doi: 10.1007/s10048-008-0123-7. Epub 2008 Mar 6.

48.

Deregulation of anti-Mullerian hormone/BMP and transforming growth factor-beta pathways in Leydig cell lesions developed in male heterozygous multiple endocrine neoplasia type 1 mutant mice.

Hussein N, Lu J, Casse H, Fontanière S, Morera AM, Guittot SM, Calender A, Di Clemente N, Zhang CX.

Endocr Relat Cancer. 2008 Mar;15(1):217-27. doi: 10.1677/ERC-06-0046.

PMID:
18310289
49.

Pituitary tumors and hyperplasia in multiple endocrine neoplasia type 1 syndrome (MEN1): a case-control study in a series of 77 patients versus 2509 non-MEN1 patients.

Trouillas J, Labat-Moleur F, Sturm N, Kujas M, Heymann MF, Figarella-Branger D, Patey M, Mazucca M, Decullier E, Vergès B, Chabre O, Calender A; Groupe d'études des Tumeurs Endocrines.

Am J Surg Pathol. 2008 Apr;32(4):534-43. doi: 10.1097/PAS.0b013e31815ade45.

PMID:
18300794
50.

Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients.

Lesca G, Genin E, Blachier C, Olivieri C, Coulet F, Brunet G, Dupuis-Girod S, Buscarini E, Soubrier F, Calender A, Danesino C, Giraud S, Plauchu H; French-Italian HHT Network.

Eur J Hum Genet. 2008 Jun;16(6):742-9. doi: 10.1038/ejhg.2008.3. Epub 2008 Feb 20.

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