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Page 1
Report on three additional patients and genotype-phenotype correlation in SLC25A22-related disorders group.
Lemattre C, Imbert-Bouteille M, Gatinois V, Benit P, Sanchez E, Guignard T, Tran Mau-Them F, Haquet E, Rivier F, Carme E, Roubertie A, Boland A, Lechner D, Meyer V, Thevenon J, Duffourd Y, Rivière JB, Deleuze JF, Wells C, Molinari F, Rustin P, Blanchet P, Geneviève D. Lemattre C, et al. Among authors: imbert bouteille m. Eur J Hum Genet. 2019 Nov;27(11):1692-1700. doi: 10.1038/s41431-019-0433-2. Epub 2019 Jul 8. Eur J Hum Genet. 2019. PMID: 31285529 Free PMC article.
Single Circulating Fetal Trophoblastic Cells Eligible for Non Invasive Prenatal Diagnosis: the Exception Rather than the Rule.
Cayrefourcq L, Vincent MC, Pierredon S, Moutou C, Imbert-Bouteille M, Haquet E, Puechberty J, Willems M, Liautard-Haag C, Molinari N, Zordan C, Dorian V, Rooryck-Thambo C, Goizet C, Chaussenot A, Rouzier C, Boureau-Wirth A, Monteil L, Calvas P, Miry C, Favre R, Petrov Y, Khau Van Kien P, Le Boette E, Fradin M, Alix-Panabières C, Guissart C. Cayrefourcq L, et al. Among authors: imbert bouteille m. Sci Rep. 2020 Jun 17;10(1):9861. doi: 10.1038/s41598-020-66923-9. Sci Rep. 2020. PMID: 32555262 Free PMC article.
No Association of Early-Onset Breast or Ovarian Cancer with Early-Onset Cancer in Relatives in BRCA1 or BRCA2 Mutation Families.
Imbert-Bouteille M, Corsini C, Picot MC, Mizrahy L, Akouete S, Huguet H, Thomas F, Geneviève D, Taourel P, Ychou M, Galibert V, Rideau C, Baudry K, Kogut Kubiak T, Coupier I, Hobeika R, Macary Y, Toledano A, Solassol J, Maalouf A, Daures JP, Pujol P. Imbert-Bouteille M, et al. Genes (Basel). 2021 Jul 20;12(7):1100. doi: 10.3390/genes12071100. Genes (Basel). 2021. PMID: 34356116 Free PMC article.
An incidental finding of maternal multiple myeloma by non invasive prenatal testing.
Imbert-Bouteille M, Chiesa J, Gaillard JB, Dorvaux V, Altounian L, Gatinois V, Mousty E, Finge S, Bourquard P, Vermeesch JR, Legius E, Vandenberghe P. Imbert-Bouteille M, et al. Prenat Diagn. 2017 Dec;37(12):1257-1260. doi: 10.1002/pd.5168. Epub 2017 Nov 28. Prenat Diagn. 2017. PMID: 29023902 Free PMC article.
Clinical practice guidelines for BRCA1 and BRCA2 genetic testing.
Pujol P, Barberis M, Beer P, Friedman E, Piulats JM, Capoluongo ED, Garcia Foncillas J, Ray-Coquard I, Penault-Llorca F, Foulkes WD, Turnbull C, Hanson H, Narod S, Arun BK, Aapro MS, Mandel JL, Normanno N, Lambrechts D, Vergote I, Anahory M, Baertschi B, Baudry K, Bignon YJ, Bollet M, Corsini C, Cussenot O, De la Motte Rouge T, Duboys de Labarre M, Duchamp F, Duriez C, Fizazi K, Galibert V, Gladieff L, Gligorov J, Hammel P, Imbert-Bouteille M, Jacot W, Kogut-Kubiak T, Lamy PJ, Nambot S, Neuzillet Y, Olschwang S, Rebillard X, Rey JM, Rideau C, Spano JP, Thomas F, Treilleux I, Vandromme M, Vendrell J, Vintraud M, Zarca D, Hughes KS, Alés Martínez JE. Pujol P, et al. Among authors: imbert bouteille m. Eur J Cancer. 2021 Mar;146:30-47. doi: 10.1016/j.ejca.2020.12.023. Epub 2021 Feb 10. Eur J Cancer. 2021. PMID: 33578357 Free article. Review.
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. Imbert-Bouteille M, et al. Mol Genet Genomic Med. 2019 Dec;7(12):e913. doi: 10.1002/mgg3.913. Epub 2019 Sep 30. Mol Genet Genomic Med. 2019. PMID: 31568710 Free PMC article.
Ovarian Clear Cell Carcinoma in Cowden Syndrome.
Yauy K, Imbert-Bouteille M, Bubien V, Lindet-Bourgeois C, Rathat G, Perrochia H, MacGrogan G, Longy M, Bessis D, Tinat J, Baert-Desurmont S, Blanluet M, Perre PV, Baudry K, Pujol P, Corsini C. Yauy K, et al. Among authors: imbert bouteille m. J Natl Compr Canc Netw. 2019 Jan;17(1):7-11. doi: 10.6004/jnccn.2018.7065. J Natl Compr Canc Netw. 2019. PMID: 30659124
The genomic and clinical landscape of fetal akinesia.
Pergande M, Motameny S, Özdemir Ö, Kreutzer M, Wang H, Daimagüler HS, Becker K, Karakaya M, Ehrhardt H, Elcioglu N, Ostojic S, Chao CM, Kawalia A, Duman Ö, Koy A, Hahn A, Reimann J, Schoner K, Schänzer A, Westhoff JH, Schwaibold EMC, Cossee M, Imbert-Bouteille M, von Pein H, Haliloglu G, Topaloglu H, Altmüller J, Nürnberg P, Thiele H, Heller R, Cirak S. Pergande M, et al. Among authors: imbert bouteille m. Genet Med. 2020 Mar;22(3):511-523. doi: 10.1038/s41436-019-0680-1. Epub 2019 Nov 4. Genet Med. 2020. PMID: 31680123 Free article.
Correction: The genomic and clinical landscape of fetal akinesia.
Pergande M, Motameny S, Özdemir Ö, Kreutzer M, Wang H, Daimagüler HS, Becker K, Karakaya M, Ehrhardt H, Elcioglu N, Ostojic S, Chao CM, Kawalia A, Duman Ö, Koy A, Hahn A, Reimann J, Schoner K, Schänzer A, Westhoff JH, Schwaibold EMC, Cossee M, Imbert-Bouteille M, von Pein H, Haliloglu G, Topaloglu H, Altmüller J, Nürnberg P, Thiele H, Heller R, Cirak S. Pergande M, et al. Among authors: imbert bouteille m. Genet Med. 2020 Aug;22(8):1426-1428. doi: 10.1038/s41436-020-0839-9. Genet Med. 2020. PMID: 32451403 Free article.
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