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Page 1
Mutations of the human PTEN gene.
Bonneau D, Longy M. Bonneau D, et al. Hum Mutat. 2000;16(2):109-22. doi: 10.1002/1098-1004(200008)16:2<109::AID-HUMU3>3.0.CO;2-0. Hum Mutat. 2000. PMID: 10923032 Review.
Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype.
Longy M, Coulon V, Duboué B, David A, Larrègue M, Eng C, Amati P, Kraimps JL, Bottani A, Lacombe D, Bonneau D. Longy M, et al. Among authors: bonneau d. J Med Genet. 1998 Nov;35(11):886-9. doi: 10.1136/jmg.35.11.886. J Med Genet. 1998. PMID: 9832032 Free PMC article.
High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome.
Bubien V, Bonnet F, Brouste V, Hoppe S, Barouk-Simonet E, David A, Edery P, Bottani A, Layet V, Caron O, Gilbert-Dussardier B, Delnatte C, Dugast C, Fricker JP, Bonneau D, Sevenet N, Longy M, Caux F; French Cowden Disease Network. Bubien V, et al. Among authors: bonneau d. J Med Genet. 2013 Apr;50(4):255-63. doi: 10.1136/jmedgenet-2012-101339. Epub 2013 Jan 18. J Med Genet. 2013. PMID: 23335809 Free article.
[Cowden's disease in an adolescent].
Mcheik JN, Vabres P, Bonneau D, Longy M, Levard G. Mcheik JN, et al. Among authors: bonneau d. Ann Chir. 2002 Feb;127(2):138-41. doi: 10.1016/s0003-3944(01)00690-3. Ann Chir. 2002. PMID: 11885374 French.
Thyroid pathologic findings in patients with Cowden disease.
Harach HR, Soubeyran I, Brown A, Bonneau D, Longy M. Harach HR, et al. Among authors: bonneau d. Ann Diagn Pathol. 1999 Dec;3(6):331-40. doi: 10.1016/s1092-9134(99)80011-2. Ann Diagn Pathol. 1999. PMID: 10594284
Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy.
Baris O, Delettre C, Amati-Bonneau P, Surget MO, Charlin JF, Catier A, Derieux L, Guyomard JL, Dollfus H, Jonveaux P, Ayuso C, Maumenee I, Lorenz B, Mohammed S, Tourmen Y, Bonneau D, Malthièry Y, Hamel C, Reynier P. Baris O, et al. Among authors: bonneau d. Hum Mutat. 2003 Jun;21(6):656. doi: 10.1002/humu.9152. Hum Mutat. 2003. PMID: 14961560
Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome.
Saugier-Veber P, Bonnet C, Afenjar A, Drouin-Garraud V, Coubes C, Fehrenbach S, Holder-Espinasse M, Roume J, Malan V, Portnoi MF, Jeanne N, Baumann C, Héron D, David A, Gérard M, Bonneau D, Lacombe D, Cormier-Daire V, Billette de Villemeur T, Frébourg T, Bürglen L. Saugier-Veber P, et al. Among authors: bonneau d. Hum Mutat. 2007 Nov;28(11):1098-107. doi: 10.1002/humu.20568. Hum Mutat. 2007. PMID: 17565729
Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.
Kato M, Das S, Petras K, Kitamura K, Morohashi KI, Abuelo DN, Barr M, Bonneau D, Brady AF, Carpenter NJ, Cipero KL, Frisone F, Fukuda T, Guerrini R, Iida E, Itoh M, Lewanda AF, Nanba Y, Oka A, Proud VK, Saugier-Veber P, Schelley SL, Selicorni A, Shaner R, Silengo M, Stewart F, Sugiyama N, Toyama J, Toutain A, Vargas AL, Yanazawa M, Zackai EH, Dobyns WB. Kato M, et al. Among authors: bonneau d. Hum Mutat. 2004 Feb;23(2):147-159. doi: 10.1002/humu.10310. Hum Mutat. 2004. PMID: 14722918
De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability.
Isidor B, Küry S, Rosenfeld JA, Besnard T, Schmitt S, Joss S, Davies SJ, Lebel RR, Henderson A, Schaaf CP, Streff HE, Yang Y, Jain V, Chida N, Latypova X, Le Caignec C, Cogné B, Mercier S, Vincent M, Colin E, Bonneau D, Denommé AS, Parent P, Gilbert-Dussardier B, Odent S, Toutain A, Piton A, Dina C, Donnart A, Lindenbaum P, Charpentier E, Redon R, Iemura K, Ikeda M, Tanaka K, Bézieau S. Isidor B, et al. Among authors: bonneau d. Hum Mutat. 2016 Apr;37(4):354-8. doi: 10.1002/humu.22952. Epub 2016 Feb 4. Hum Mutat. 2016. PMID: 26751395 Free article.
Retinal angioma in a patient with Cowden disease.
Gicquel JJ, Vabres P, Bonneau D, Mercié M, Handiri L, Dighiero P. Gicquel JJ, et al. Among authors: bonneau d. Am J Ophthalmol. 2003 Mar;135(3):400-2. doi: 10.1016/s0002-9394(02)01963-3. Am J Ophthalmol. 2003. PMID: 12614768
444 results