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Identification of the multiple endocrine neoplasia type 1 (MEN1) gene. The European Consortium on MEN1.
Lemmens I, Van de Ven WJ, Kas K, Zhang CX, Giraud S, Wautot V, Buisson N, De Witte K, Salandre J, Lenoir G, Pugeat M, Calender A, Parente F, Quincey D, Gaudray P, De Wit MJ, Lips CJ, Höppener JW, Khodaei S, Grant AL, Weber G, Kytölä S, Teh BT, Farnebo F, Thakker RV, et al. Lemmens I, et al. Among authors: pugeat m. Hum Mol Genet. 1997 Jul;6(7):1177-83. doi: 10.1093/hmg/6.7.1177. Hum Mol Genet. 1997. PMID: 9215690
Germ-line mutation analysis in patients with multiple endocrine neoplasia type 1 and related disorders.
Giraud S, Zhang CX, Serova-Sinilnikova O, Wautot V, Salandre J, Buisson N, Waterlot C, Bauters C, Porchet N, Aubert JP, Emy P, Cadiot G, Delemer B, Chabre O, Niccoli P, Leprat F, Duron F, Emperauger B, Cougard P, Goudet P, Sarfati E, Riou JP, Guichard S, Rodier M, Meyrier A, Caron P, Vantyghem MC, Assayag M, Peix JL, Pugeat M, Rohmer V, Vallotton M, Lenoir G, Gaudray P, Proye C, Conte-Devolx B, Chanson P, Shugart YY, Goldgar D, Murat A, Calender A. Giraud S, et al. Among authors: pugeat m. Am J Hum Genet. 1998 Aug;63(2):455-67. doi: 10.1086/301953. Am J Hum Genet. 1998. PMID: 9683585 Free PMC article.
An ancient founder mutation in PROKR2 impairs human reproduction.
Avbelj Stefanija M, Jeanpierre M, Sykiotis GP, Young J, Quinton R, Abreu AP, Plummer L, Au MG, Balasubramanian R, Dwyer AA, Florez JC, Cheetham T, Pearce SH, Purushothaman R, Schinzel A, Pugeat M, Jacobson-Dickman EE, Ten S, Latronico AC, Gusella JF, Dode C, Crowley WF Jr, Pitteloud N. Avbelj Stefanija M, et al. Among authors: pugeat m. Hum Mol Genet. 2012 Oct 1;21(19):4314-24. doi: 10.1093/hmg/dds264. Epub 2012 Jul 5. Hum Mol Genet. 2012. PMID: 22773735 Free PMC article.
Covid-19: The challenges facing endocrinology.
Pugeat M, Chabre O, Van Tyghem MC. Pugeat M, et al. Ann Endocrinol (Paris). 2020 Jun;81(2-3):61-62. doi: 10.1016/j.ando.2020.04.006. Epub 2020 Apr 25. Ann Endocrinol (Paris). 2020. PMID: 32381288 Free PMC article. No abstract available.
Case of (Y;1) familial translocation.
Teyssier M, Rafat A, Pugeat M. Teyssier M, et al. Among authors: pugeat m. Am J Med Genet. 1993 May 15;46(3):339-40. doi: 10.1002/ajmg.1320460319. Am J Med Genet. 1993. PMID: 8488881
184 results