Publications 2015 [GAD]

Seules les publications en lien avec les anomalies du développement et syndromes malformatifs sont citées.

  • Plée J, Le Jan S, Giustiniani J, Barbe C, Joly P, Bedane C, Vabres P, Truchetet F, Aubin F, Antonicelli F, Bernard P. Integrating longitudinal serum IL-17 and IL-23 follow-up, along with autoantibodies variation, contributes to predict bullous pemphigoid outcome. Sci Rep. 14 déc 2015;5:18001.
  • O’Rawe JA, Wu Y, Dörfel MJ, Rope AF, Au PYB, Parboosingh JS, Moon S, Kousi M, Kosma K, Smith CS, Tzetis M, Schuette JL, Hufnagel RB, Prada CE, Martinez F, Orellana C, Crain J, Caro-Llopis A, Oltra S, Monfort S, Jiménez-Barrón LT, Swensen J, Ellingwood S, Smith R, Fang H, Ospina S, Stegmann S, Hollander N Den, Mittelman D, Highnam G, Robison R, Yang E, Faivre L, Roubertie A, Rivière J-B, Monaghan KG, Wang K, Davis EE, Katsanis N, Kalscheuer VM, Wang EH, Metcalfe K, Kleefstra T, Innes AM, Kitsiou-Tzeli S, Rosello M, Keegan CE, Lyon GJ. TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations. Am J Hum Genet. 3 déc 2015;97(6):922‑32.
  • Limoge F, Faivre L, Gautier T, Petit J-M, Gautier E, Masson D, Jego G, Chehadeh-Djebbar S El, Marle N, Carmignac V, Deckert V, Brindisi M-C, Edery P, Ghoumid J, Blair E, Lagrost L, Thauvin-Robinet C, Duplomb L. Insulin response dysregulation explains abnormal fat storage and increased risk of diabetes mellitus type 2 in Cohen Syndrome. Hum Mol Genet. 1 déc 2015;24(23):6603‑13.
  • 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, Boullay H Du, 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. Unraveling the intrafamilial correlations and heritability of tumor types in MEN1: a Groupe d’étude des Tumeurs Endocrines study. Eur J Endocrinol. déc 2015;173(6):819‑26.
  • Pilliod J, Moutton S, Lavie J, Maurat E, Hubert C, Bellance N, Anheim M, Forlani S, Mochel F, N’Guyen K, Thauvin-Robinet C, Verny C, Milea D, Lesca G, Koenig M, Rodriguez D, Houcinat N, Van-Gils J, Durand CM, Guichet A, Barth M, Bonneau D, Convers P, Maillart E, Guyant-Marechal L, Hannequin D, Fromager G, Afenjar A, Chantot-Bastaraud S, Valence S, Charles P, Berquin P, Rooryck C, Bouron J, Brice A, Lacombe D, Rossignol R, Stevanin G, Benard G, Burglen L, Durr A, Goizet C, Coupry I. New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay. Ann Neurol. déc 2015;78(6):871‑86.
  • Favard N, Moulin M, Fauque P, Bertaut A, Favelier S, Estivalet L, Michel F, Cormier L, Sagot P, Loffroy R. Comparison of three different embolic materials for varicocele embolization: retrospective study of tolerance, radiation and recurrence rate. Quant Imaging Med Surg. déc 2015;5(6):806‑14.
  • Courcet J-B, Minello A, Prieur F, Morisse L, Phelip J-M, Beurdeley A, Meynard D, Massenet D, Lacassin F, Duffourd Y, Gigot N, St-Onge J, Hillon P, Vanlemmens C, Mousson C, Cerceuil J-P, Guiu B, Thevenon J, Thauvin-Robinet C, Jacquemin E, Rivière J-B, Michel-Calemard L, Faivre L. Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations. Am J Med Genet A. déc 2015;167A(12):3046‑53.
  • Vanlerberghe C, Faivre L, Petit F, Fruchart O, Jourdain A-S, Clavier F, Gay S, Manouvrier-Hanu S, Escande F. Intrafamilial variability of ZRS-associated syndrome: characterization of a mosaic ZRS mutation by pyrosequencing. Clin Genet. nov 2015;88(5):479‑83.
  • Cordeddu V, Yin JC, Gunnarsson C, Virtanen C, Drunat S, Lepri F, De Luca A, Rossi C, Ciolfi A, Pugh TJ, Bruselles A, Priest JR, Pennacchio LA, Lu Z, Danesh A, Quevedo R, Hamid A, Martinelli S, Pantaleoni F, Gnazzo M, Daniele P, Lissewski C, Bocchinfuso G, Stella L, Odent S, Philip N, Faivre L, Vlckova M, Seemanova E, Digilio C, Zenker M, Zampino G, Verloes A, Dallapiccola B, Roberts AE, Cavé H, Gelb BD, Neel BG, Tartaglia M. Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome. Hum Mutat. nov 2015;36(11):1080‑7.
  • Bronicki LM, Redin C, Drunat S, Piton A, Lyons M, Passemard S, Baumann C, Faivre L, Thevenon J, Rivière J-B, Isidor B, Gan G, Francannet C, Willems M, Gunel M, Jones JR, Gleeson JG, Mandel J-L, Stevenson RE, Friez MJ, Aylsworth AS. Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A. Eur J Hum Genet. nov 2015;23(11):1482‑7.
  • Avila M, Dyment DA, Sagen JV, St-Onge J, Moog U, Chung BHY, Mansour S, Albanese A, Garcia S, Ortiz Martin D, Lopez AA, Claudi T, König R, White SM, Sawyer SL, Bernstein JA, Slattery L, Jobling RK, Yoon G, Curry CJ, Le Merrer M, Le Luyer B, Héron D, Mathieu-Dramard M, Bitoun P, Odent S, Amiel J, Kuentz P, Thevenon J, Laville M, Reznik Y, Fagour C, Nunes M-L, Delesalle D, Manouvrier S, Lascols O, Huet F, Binquet C, Faivre L, Rivière J-B, Vigouroux C, Njølstad PR, Innes AM, Thauvin-Robinet C. Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: towards recommendation for molecular testing and management. Clin Genet. 24 oct 2015;
  • Mercier S, Küry S, Salort-Campana E, Magot A, Agbim U, Besnard T, Bodak N, Bou-Hanna C, Bréhéret F, Brunelle P, Caillon F, Chabrol B, Cormier-Daire V, David A, Eymard B, Faivre L, Figarella-Branger D, Fleurence E, Ganapathi M, Gherardi R, Goldenberg A, Hamel A, Igual J, Irvine AD, Israël-Biet D, Kannengiesser C, Laboisse C, Le Caignec C, Mahé J-Y, Mallet S, MacGowan S, McAleer MA, McLean I, Méni C, Munnich A, Mussini J-M, Nagy PL, Odel J, O’Regan GM, Péréon Y, Perrier J, Piard J, Puzenat E, Sampson JB, Smith F, Soufir N, Tanji K, Thauvin C, Ulane C, Watson RM, Khumalo NP, Mayosi BM, Barbarot S, Bézieau S. Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations. Orphanet J Rare Dis. 15 oct 2015;10:135.
  • Milleron O, Arnoult F, Ropers J, Aegerter P, Detaint D, Delorme G, Attias D, Tubach F, Dupuis-Girod S, Plauchu H, Barthelet M, Sassolas F, Pangaud N, Naudion S, Thomas-Chabaneix J, Dulac Y, Edouard T, Wolf J-E, Faivre L, Odent S, Basquin A, Habib G, Collignon P, Boileau C, Jondeau G. Marfan Sartan: a randomized, double-blind, placebo-controlled trial. Eur Heart J. 21 août 2015;36(32):2160‑6.
  • Alby C, Piquand K, Huber C, Megarbané A, Ichkou A, Legendre M, Pelluard F, Encha-Ravazi F, Abi-Tayeh G, Bessières B, Chehadeh-Djebbar S El, Laurent N, Faivre L, Sztriha L, Zombor M, Szabó H, Failler M, Garfa-Traore M, Bole C, Nitschké P, Nizon M, Elkhartoufi N, Clerget-Darpoux F, Munnich A, Lyonnet S, Vekemans M, Saunier S, Cormier-Daire V, Attié-Bitach T, Thomas S. Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome. Am J Hum Genet. 6 août 2015;97(2):311‑8.
  • Thevenon J, Michot C, Bole C, Nitschke P, Nizon M, Faivre L, Munnich A, Lyonnet S, Bonnefont J-P, Portes VD, Amiel J. RPL10 mutation segregating in a family with X-linked syndromic Intellectual Disability. Am J Med Genet A. août 2015;167A(8):1908‑12.
  • Mansour-Hendili L, Blanchard A, Le Pottier N, Roncelin I, Lourdel S, Treard C, González W, Vergara-Jaque A, Morin G, Colin E, Holder-Espinasse M, Bacchetta J, Baudouin V, Benoit S, Bérard E, Bourdat-Michel G, Bouchireb K, Burtey S, Cailliez M, Cardon G, Cartery C, Champion G, Chauveau D, Cochat P, Dahan K, De la Faille R, Debray F-G, Dehoux L, Deschenes G, Desport E, Devuyst O, Dieguez S, Emma F, Fischbach M, Fouque D, Fourcade J, François H, Gilbert-Dussardier B, Hannedouche T, Houillier P, Izzedine H, Janner M, Karras A, Knebelmann B, Lavocat M-P, Lemoine S, Leroy V, Loirat C, Macher M-A, Martin-Coignard D, Morin D, Niaudet P, Nivet H, Nobili F, Novo R, Faivre L, Rigothier C, Roussey-Kesler G, Salomon R, Schleich A, Sellier-Leclerc A-L, Soulami K, Tiple A, Ulinski T, Vanhille P, Van Regemorter N, Jeunemaître X, Vargas-Poussou R. Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1. Hum Mutat. août 2015;36(8):743‑52.
  • Khattabi L El, Guimiot F, Pipiras E, Andrieux J, Baumann C, Bouquillon S, Delezoide A-L, Delobel B, Demurger F, Dessuant H, Drunat S, Dubourg C, Dupont C, Faivre L, Holder-Espinasse M, Jaillard S, Journel H, Lyonnet S, Malan V, Masurel A, Marle N, Missirian C, Moerman A, Moncla A, Odent S, Palumbo O, Palumbo P, Ravel A, Romana S, Tabet A-C, Valduga M, Vermelle M, Carella M, Dupont J-M, Verloes A, Benzacken B, Delahaye A. Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1. Eur J Hum Genet. août 2015;23(8):1010‑8.
  • Chiaverini C, Fontas E, Vabres P, Bessis D, Mazereeuw J, Charlesworth A, Meneguzzi G, Lacour J-P. Oral erythromycin therapy in epidermolysis bullosa simplex generalized severe. Br J Dermatol. août 2015;173(2):563‑4.
  • Lefebvre M, Dufernez F, Bruel A-L, Gonzales M, Aral B, Saint-Onge J, Gigot N, Desir J, Daelemans C, Jossic F, Schmitt S, Mangione R, Pelluard F, Vincent-Delorme C, Labaune J-M, Bigi N, D’Olne D, Delezoide A-L, Toutain A, Blesson S, Cormier-Daire V, Thevenon J, Chehadeh S El, Masurel-Paulet A, Joyé N, Vibert-Guigue C, Rigonnot L, Rousseau T, Vabres P, Hervé P, Lamazière A, Rivière J-B, Faivre L, Laurent N, Thauvin-Robinet C. Severe X-linked chondrodysplasia punctata in nine new female fetuses. Prenat Diagn. juill 2015;35(7):675‑84.
  • Courcet J-B, Elalaoui SC, Duplomb L, Tajir M, Rivière J-B, Thevenon J, Gigot N, Marle N, Aral B, Duffourd Y, Sarasin A, Naim V, Courcet-Degrolard E, Aubriot-Lorton M-H, Martin L, Abrid JE, Thauvin C, Sefiani A, Vabres P, Faivre L. Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma. Eur J Hum Genet. juill 2015;23(7):957‑62.
  • Bourchany A, Giurgea I, Thevenon J, Goldenberg A, Morin G, Bremond-Gignac D, Paillot C, Lafontaine PO, Thouvenin D, Massy J, Duncombe A, Thauvin-Robinet C, Masurel-Paulet A, Chehadeh SE, Huet F, Bron A, Creuzot-Garcher C, Lyonnet S, Faivre L. Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome. Am J Med Genet A. juill 2015;167(7):1587‑92.
  • Bruno C, Carmignac V, Netchine I, Choux C, Duffourd Y, Faivre L, Thauvin-Robinet C, Le Bouc Y, Sagot P, Bourc’his D, Fauque P. Germline correction of an epimutation related to Silver-Russell syndrome. Hum Mol Genet. 15 juin 2015;24(12):3314‑21.
  • Mahé E, Beauchet A, Bodemer C, Phan A, Bursztejn A-C, Boralevi F, Souillet A-L, Chiaverini C, Bourrat E, Miquel J, Vabres P, Barbarot S, Bessis D, Eschard C, Hadj-Rabia S, Groupe de Recherche de la Société Française de Dermatologie Pédiatrique. Psoriasis and obesity in French children: a case-control, multicentre study. Br J Dermatol. juin 2015;172(6):1593‑600.
  • Lok C, Vabres P, Beylot-Barry M, Wolkenstein P. [Foreword]. Ann Dermatol Venereol. juin 2015;142 Suppl 2:S23.
  • Deutsch E, Le Péchoux C, Faivre L, Rivera S, Tao Y, Pignon J-P, Angokai M, Bahleda R, Deandreis D, Angevin E, Hennequin C, Besse B, Levy A, Soria J-C. Phase I trial of everolimus in combination with thoracic radiotherapy in non-small-cell lung cancer. Ann Oncol. juin 2015;26(6):1223‑9.
  • De Rocker N, Vergult S, Koolen D, Jacobs E, Hoischen A, Zeesman S, Bang B, Béna F, Bockaert N, Bongers EM, de Ravel T, Devriendt K, Giglio S, Faivre L, Joss S, Maas S, Marle N, Novara F, Nowaczyk MJM, Peeters H, Polstra A, Roelens F, Rosenberg C, Thevenon J, Tümer Z, Vanhauwaert S, Varvagiannis K, Willaert A, Willemsen M, Willems M, Zuffardi O, Coucke P, Speleman F, Eichler EE, Kleefstra T, Menten B. Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity. Genet Med. juin 2015;17(6):460‑6.
  • Abdou A, Daoui L, Charlesworth A, Chiaverini C, Algros M-P, Puzenat E, Chantegret C, Vabres P, Lacour J-P, Aubin F. [Recessive epidermolysis bullosa due to composite heterozygote mutations in the COL7A1 gene]. Ann Dermatol Venereol. mai 2015;142(5):346‑9.
  • Verloes A, Di Donato N, Masliah-Planchon J, Jongmans M, Abdul-Raman OA, Albrecht B, Allanson J, Brunner H, Bertola D, Chassaing N, David A, Devriendt K, Eftekhari P, Drouin-Garraud V, Faravelli F, Faivre L, Giuliano F, Guion Almeida L, Juncos J, Kempers M, Eker HK, Lacombe D, Lin A, Mancini G, Melis D, Lourenço CM, Siu VM, Morin G, Nezarati M, Nowaczyk MJM, Ramer JC, Osimani S, Philip N, Pierpont ME, Procaccio V, Roseli Z-S, Rossi M, Rusu C, Sznajer Y, Templin L, Uliana V, Klaus M, Van Bon B, Van Ravenswaaij C, Wainer B, Fry AE, Rump A, Hoischen A, Drunat S, Rivière J-B, Dobyns WB, Pilz DT. Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. Eur J Hum Genet. mars 2015;23(3):292‑301.
  • Piard J, Aral B, Vabres P, Holder-Espinasse M, Mégarbané A, Gauthier S, Capra V, Pierquin G, Callier P, Baumann C, Pasquier L, Baujat G, Martorell L, Rodriguez A, Brady AF, Boralevi F, González-Enseñat MA, Rio M, Bodemer C, Philip N, Cordier M-P, Goldenberg A, Demeer B, Wright M, Blair E, Puzenat E, Parent P, Sznajer Y, Francannet C, DiDonato N, Boute O, Barlogis V, Moldovan O, Bessis D, Coubes C, Tardieu M, Cormier-Daire V, Sousa AB, Franques J, Toutain A, Tajir M, Elalaoui SC, Geneviève D, Thevenon J, Courcet J-B, Rivière J-B, Collet C, Gigot N, Faivre L, Thauvin-Robinet C. Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes. Clin Genet. mars 2015;87(3):244‑51.
  • Joly M-O, Attignon V, Saurin J-C, Desseigne F, Leroux D, Martin-Denavit T, Giraud S, Bonnet-Dupeyron M-N, Faivre L, Auclair J, Grand-Masson C, Audoynaud C, Wang Q. Somatic MMR gene mutations as a cause for MSI-H sebaceous neoplasms in Muir-Torre syndrome-like patients. Hum Mutat. mars 2015;36(3):292‑5.
  • Dutkiewicz A-S, Ezzedine K, Mazereeuw-Hautier J, Lacour J-P, Barbarot S, Vabres P, Miquel J, Balguerie X, Martin L, Boralevi F, Bessou P, Chateil J-F, Léauté-Labrèze C, Groupe de Recherche Clinique en Dermatologie Pédiatrique. A prospective study of risk for Sturge-Weber syndrome in children with upper facial port-wine stain. J Am Acad Dermatol. mars 2015;72(3):473‑80.
  • Dreyfus I, Pauwels C, Bourrat E, Bursztejn A-C, Maruani A, Chiaverini C, Maza A, Mallet S, Bessis D, Barbarot S, Ezzedine K, Vabres P, Mazereeuw-Hautier J. Burden of inherited ichthyosis: a French national survey. Acta Derm Venereol. mars 2015;95(3):326‑8.
  • Chandra A, Patel D, Aragon-Martin JA, Pinard A, Collod-Béroud G, Comeglio P, Boileau C, Faivre L, Charteris D, Child AH, Arno G. The revised ghent nosology; reclassifying isolated ectopia lentis. Clin Genet. mars 2015;87(3):284‑7.
  • Léauté-Labrèze C, Hoeger P, Mazereeuw-Hautier J, Guibaud L, Baselga E, Posiunas G, Phillips RJ, Caceres H, Lopez Gutierrez JC, Ballona R, Friedlander SF, Powell J, Perek D, Metz B, Barbarot S, Maruani A, Szalai ZZ, Krol A, Boccara O, Foelster-Holst R, Febrer Bosch MI, Su J, Buckova H, Torrelo A, Cambazard F, Grantzow R, Wargon O, Wyrzykowski D, Roessler J, Bernabeu-Wittel J, Valencia AM, Przewratil P, Glick S, Pope E, Birchall N, Benjamin L, Mancini AJ, Vabres P, Souteyrand P, Frieden IJ, Berul CI, Mehta CR, Prey S, Boralevi F, Morgan CC, Heritier S, Delarue A, Voisard J-J. A randomized, controlled trial of oral propranolol in infantile hemangioma. N Engl J Med. 19 févr 2015;372(8):735‑46.
  • Manes G, Guillaumie T, Vos WL, Devos A, Audo I, Zeitz C, Marquette V, Zanlonghi X, Defoort-Dhellemmes S, Puech B, Said SM, Sahel JA, Odent S, Dollfus H, Kaplan J, Dufier J-L, Le Meur G, Weber M, Faivre L, Cohen FB, Béroud C, Picot M-C, Verdier C, Sénéchal A, Baudoin C, Bocquet B, Findlay JB, Meunier I, Dhaenens C-M, Hamel CP. High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical features. Am J Ophthalmol. févr 2015;159(2):302‑14.
  • Pasmant E, Gilbert-Dussardier B, Petit A, de Laval B, Luscan A, Gruber A, Lapillonne H, Deswarte C, Goussard P, Laurendeau I, Uzan B, Pflumio F, Brizard F, Vabres P, Naguibvena I, Fasola S, Millot F, Porteu F, Vidaud D, Landman-Parker J, Ballerini P. SPRED1, a RAS MAPK pathway inhibitor that causes Legius syndrome, is a tumour suppressor downregulated in paediatric acute myeloblastic leukaemia. Oncogene. 29 janv 2015;34(5):631‑8.
  • Mignot C, Lambert L, Pasquier L, Bienvenu T, Delahaye-Duriez A, Keren B, Lefranc J, Saunier A, Allou L, Roth V, Valduga M, Moustaïne A, Auvin S, Barrey C, Chantot-Bastaraud S, Lebrun N, Moutard M-L, Nougues M-C, Vermersch A-I, Héron B, Pipiras E, Héron D, Olivier-Faivre L, Guéant J-L, Jonveaux P, Philippe C. WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation. J Med Genet. janv 2015;52(1):61‑70.
  • Démurger F, Ichkou A, Mougou-Zerelli S, Le Merrer M, Goudefroye G, Delezoide A-L, Quélin C, Manouvrier S, Baujat G, Fradin M, Pasquier L, Megarbané A, Faivre L, Baumann C, Nampoothiri S, Roume J, Isidor B, Lacombe D, Delrue M-A, Mercier S, Philip N, Schaefer E, Holder M, Krause A, Laffargue F, Sinico M, Amram D, André G, Liquier A, Rossi M, Amiel J, Giuliano F, Boute O, Dieux-Coeslier A, Jacquemont M-L, Afenjar A, Van Maldergem L, Lackmy-Port-Lis M, Vincent-Delorme C, Chauvet M-L, Cormier-Daire V, Devisme L, Geneviève D, Munnich A, Viot G, Raoul O, Romana S, Gonzales M, Encha-Razavi F, Odent S, Vekemans M, Attie-Bitach T. New insights into genotype-phenotype correlation for GLI3 mutations. Eur J Hum Genet. janv 2015;23(1):92‑102.
  • Avril M-F, Bahadoran P, Cabaret O, Caron O, de la Fouchardière A, Demenais F, Desjardins L, Frébourg T, Hammel P, Leccia M-T, Lesueur F, Mahé E, Martin L, Maubec E, Remenieras A, Richard S, Robert C, Soufir N, Stoppa-Lyonnet D, Thomas L, Vabres P, Bressac-de Paillerets B. Recommendations for genetic testing and management of individuals genetically at-risk of cutaneous melanoma. Ann Dermatol Venereol. janv 2015;142(1):26‑36.
  • Rao S, Larroque-Lombard A-L, Peyrard L, Thauvin C, Rachid Z, Williams C, Jean-Claude BJ. Target modulation by a kinase inhibitor engineered to induce a tandem blockade of the epidermal growth factor receptor (EGFR) and c-Src: the concept of type III combi-targeting. PLoS ONE. 2015;10(2):e0117215.
  • Giroud M, Daubail B, Khayat N, Chouchane M, Berger E, Muzard E, Medeiros de Bustos E, Thauvin-Robinet C, Faivre L, Masurel A, Darmency-Stamboul V, Huet F, Béjot Y, Giroud M, Moulin T. Angelman syndrome: a case series assessing neurological issues in adulthood. Eur Neurol. 2015;73(1-2):119‑25.
  • Chehadeh S El, Bonnet C, Callier P, Béri M, Dupré T, Payet M, Ragon C, Mosca-Boidron AL, Marle N, Mugneret F, Masurel-Paulet A, Thevenon J, Seta N, Duplomb L, Jonveaux P, Faivre L, Thauvin-Robinet C. Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic Markers. JIMD Rep. 2015;20:45‑55.
  • Desch L, Marle N, Mosca-Boidron A-L, Faivre L, Eliade M, Payet M, Ragon C, Thevenon J, Aral B, Ragot S, Ardalan A, Dhouibi N, Bensignor C, Thauvin-Robinet C, Chehadeh S El, Callier P. 6q16.3q23.3 duplication associated with Prader-Willi-like syndrome. Mol Cytogenet. 2015;8:42.
  • Desch L, Bruno C, Herbemont C, Michel F, Bechoua S, Girod S, Sagot P, Fauque P. Impact on ICSI outcomes of adding 24 h of in vitro culture before testicular sperm freezing: a retrospective study. Basic Clin Androl. 2015;25:6.
  • Choux C, Carmignac V, Bruno C, Sagot P, Vaiman D, Fauque P. The placenta: phenotypic and epigenetic modifications induced by Assisted Reproductive Technologies throughout pregnancy. Clin Epigenetics. 2015;7:87.