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Page 1
Mosaic complete tetrasomy 21 in a fetus with complete atrioventricular septal defect and minor morphological variations.
Gatinois V, Bigi N, Mousty E, Chiesa J, Musizzano Y, Schneider A, Lefort G, Pinson L, Gaillard JB, Ragon C, Perez MJ, Tournaire M, Blanchet P, Corsini C, Haquet E, Callier P, Geneviève D, Pellestor F, Puechberty J. Gatinois V, et al. Among authors: pinson l. Mol Genet Genomic Med. 2019 Nov;7(11):e00895. doi: 10.1002/mgg3.895. Epub 2019 Sep 7. Mol Genet Genomic Med. 2019. PMID: 31493343 Free PMC article.
Finger creases lend a hand in Kabuki syndrome.
Michot C, Corsini C, Sanlaville D, Baumann C, Toutain A, Philip N, Busa T, Holder M, Faivre L, Odent S, Delrue MA, Till M, Jacquemont ML, Cordier MP, Goldenberg A, Sanchez E, Alix E, Poisson S, Kayirangwa H, Lacombe D, Gilbert-Dussardier B, Pelet A, Roume J, Jacquette A, Isidor B, Giuliano F, Burglen L, Fradin M, Schaefer E, Alembick Y, Doray B, Moncla A, Héron D, Willems M, Pinson L, Le Quan Sang KH, Le Merrer M, Cormier-Daire V, Sarda P, Amiel J, Lyonnet S, Geneviève D. Michot C, et al. Among authors: pinson l. Eur J Med Genet. 2013 Oct;56(10):556-60. doi: 10.1016/j.ejmg.2013.07.005. Epub 2013 Aug 7. Eur J Med Genet. 2013. PMID: 23933090 Free article.
CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome.
Pinson L, Mannini L, Willems M, Cucco F, Sirvent N, Frebourg T, Quarantotti V, Collet C, Schneider A, Sarda P, Geneviève D, Puechberty J, Lefort G, Musio A. Pinson L, et al. Am J Med Genet A. 2014 Jan;164A(1):177-81. doi: 10.1002/ajmg.a.36166. Epub 2013 Nov 20. Am J Med Genet A. 2014. PMID: 24259107
Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.
Vincent M, Geneviève D, Ostertag A, Marlin S, Lacombe D, Martin-Coignard D, Coubes C, David A, Lyonnet S, Vilain C, Dieux-Coeslier A, Manouvrier S, Isidor B, Jacquemont ML, Julia S, Layet V, Naudion S, Odent S, Pasquier L, Pelras S, Philip N, Pierquin G, Prieur F, Aboussair N, Attie-Bitach T, Baujat G, Blanchet P, Blanchet C, Dollfus H, Doray B, Schaefer E, Edery P, Giuliano F, Goldenberg A, Goizet C, Guichet A, Herlin C, Lambert L, Leheup B, Martinovic J, Mercier S, Mignot C, Moutard ML, Perez MJ, Pinson L, Puechberty J, Willems M, Randrianaivo H, Szakszon K, Toutain A, Verloes A, Vigneron J, Sanchez E, Sarda P, Laplanche JL, Collet C. Vincent M, et al. Among authors: pinson l. Genet Med. 2016 Jan;18(1):49-56. doi: 10.1038/gim.2015.29. Epub 2015 Mar 19. Genet Med. 2016. PMID: 25790162 Free article.
Mosaic parental germline mutations causing recurrent forms of malformations of cortical development.
Zillhardt JL, Poirier K, Broix L, Lebrun N, Elmorjani A, Martinovic J, Saillour Y, Muraca G, Nectoux J, Bessieres B, Fallet-Bianco C, Lyonnet S, Dulac O, Odent S, Rejeb I, Ben Jemaa L, Rivier F, Pinson L, Geneviève D, Musizzano Y, Bigi N, Leboucq N, Giuliano F, Philip N, Vilain C, Van Bogaert P, Maurey H, Beldjord C, Artiguenave F, Boland A, Olaso R, Masson C, Nitschké P, Deleuze JF, Bahi-Buisson N, Chelly J. Zillhardt JL, et al. Among authors: pinson l. Eur J Hum Genet. 2016 Apr;24(4):611-4. doi: 10.1038/ejhg.2015.192. Epub 2015 Sep 23. Eur J Hum Genet. 2016. PMID: 26395554 Free PMC article.
The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype.
Barat-Houari M, Dumont B, Fabre A, Them FT, Alembik Y, Alessandri JL, Amiel J, Audebert S, Baumann-Morel C, Blanchet P, Bieth E, Brechard M, Busa T, Calvas P, Capri Y, Cartault F, Chassaing N, Ciorca V, Coubes C, David A, Delezoide AL, Dupin-Deguine D, El Chehadeh S, Faivre L, Giuliano F, Goldenberg A, Isidor B, Jacquemont ML, Julia S, Kaplan J, Lacombe D, Lebrun M, Marlin S, Martin-Coignard D, Martinovic J, Masurel A, Melki J, Mozelle-Nivoix M, Nguyen K, Odent S, Philip N, Pinson L, Plessis G, Quélin C, Shaeffer E, Sigaudy S, Thauvin C, Till M, Touraine R, Vigneron J, Baujat G, Cormier-Daire V, Le Merrer M, Geneviève D, Touitou I. Barat-Houari M, et al. Among authors: pinson l. Eur J Hum Genet. 2016 Jul;24(7):992-1000. doi: 10.1038/ejhg.2015.250. Epub 2015 Dec 2. Eur J Hum Genet. 2016. PMID: 26626311 Free PMC article.
Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome.
Putoux A, Alqahtani A, Pinson L, Paulussen AD, Michel J, Besson A, Mazoyer S, Borg I, Nampoothiri S, Vasiljevic A, Uwineza A, Boggio D, Champion F, de Die-Smulders CE, Gardeitchik T, van Putten WK, Perez MJ, Musizzano Y, Razavi F, Drunat S, Verloes A, Hennekam R, Guibaud L, Alix E, Sanlaville D, Lesca G, Edery P. Putoux A, et al. Among authors: pinson l. Clin Genet. 2016 Dec;90(6):550-555. doi: 10.1111/cge.12781. Epub 2016 Jun 2. Clin Genet. 2016. PMID: 27040866 Free article.
Clinical delineation of a subtype of frontonasal dysplasia with creased nasal ridge and upper limb anomalies: Report of six unrelated patients.
Lehalle D, Altunoglu U, Bruel AL, Arnaud E, Blanchet P, Choi JW, Désir J, Kiliç E, Lederer D, Pinson L, Thauvin-Robinet C, Singer A, Thevenon J, Callier P, Kayserili H, Faivre L. Lehalle D, et al. Among authors: pinson l. Am J Med Genet A. 2017 Dec;173(12):3136-3142. doi: 10.1002/ajmg.a.38490. Am J Med Genet A. 2017. PMID: 29136349 Review.
A framework to identify contributing genes in patients with Phelan-McDermid syndrome.
Tabet AC, Rolland T, Ducloy M, Lévy J, Buratti J, Mathieu A, Haye D, Perrin L, Dupont C, Passemard S, Capri Y, Verloes A, Drunat S, Keren B, Mignot C, Marey I, Jacquette A, Whalen S, Pipiras E, Benzacken B, Chantot-Bastaraud S, Afenjar A, Héron D, Le Caignec C, Beneteau C, Pichon O, Isidor B, David A, El Khattabi L, Kemeny S, Gouas L, Vago P, Mosca-Boidron AL, Faivre L, Missirian C, Philip N, Sanlaville D, Edery P, Satre V, Coutton C, Devillard F, Dieterich K, Vuillaume ML, Rooryck C, Lacombe D, Pinson L, Gatinois V, Puechberty J, Chiesa J, Lespinasse J, Dubourg C, Quelin C, Fradin M, Journel H, Toutain A, Martin D, Benmansour A, Leblond CS, Toro R, Amsellem F, Delorme R, Bourgeron T. Tabet AC, et al. Among authors: pinson l. NPJ Genom Med. 2017 Oct 23;2:32. doi: 10.1038/s41525-017-0035-2. eCollection 2017. NPJ Genom Med. 2017. PMID: 29263841 Free PMC article.
Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients.
Lefebvre M, Dieux-Coeslier A, Baujat G, Schaefer E, Judith SO, Bazin A, Pinson L, Attie-Bitach T, Baumann C, Fradin M, Pierquin G, Julia S, Quélin C, Doray B, Berg S, Vincent-Delorme C, Lambert L, Bachmann N, Lacombe D, Isidor B, Laurent N, Joelle R, Blanchet P, Odent S, Kervran D, Leporrier N, Abel C, Segers K, Guiliano F, Ginglinger-Fabre E, Selicorni A, Goldenberg A, El Chehadeh S, Francannet C, Demeer B, Duffourd Y, Thauvin-Robinet C, Verloes A, Cormier-Daire V, Riviere JB, Faivre L, Thevenon J. Lefebvre M, et al. Among authors: pinson l. J Med Genet. 2018 Jun;55(6):422-429. doi: 10.1136/jmedgenet-2017-104939. Epub 2018 Feb 19. J Med Genet. 2018. PMID: 29459493
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