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Items: 1 to 50 of 369

1.

Aberrant granulosa cell-fate related to inactivated p53/Rb signaling contributes to granulosa cell tumors and to FOXL2 downregulation in the mouse ovary.

Cluzet V, Devillers MM, Petit F, Chauvin S, François CM, Giton F, Genestie C, di Clemente N, Cohen-Tannoudji J, Guigon CJ.

Oncogene. 2019 Nov 19. doi: 10.1038/s41388-019-1109-7. [Epub ahead of print]

PMID:
31745296
2.

Reverse Phenotyping in Patients with Skin Capillary Malformations and Mosaic GNAQ or GNA11 Mutations Defines a Clinical Spectrum with Genotype-Phenotype Correlation.

Jordan M, Carmignac V, Sorlin A, Kuentz P, Albuisson J, Borradori L, Bourrat E, Boute O, Bukvic N, Bursztejn AC, Chiaverini C, Delobel B, Fournet M, Martel J, Goldenberg A, Hadj-Rabia S, Mahé A, Maruani A, Mazereeuw J, Mignot C, Morice-Picard F, Moutard ML, Petit F, Pasteur J, Phan A, Whalen S, Willems M, Philippe C, Vabres P.

J Invest Dermatol. 2019 Nov 11. pii: S0022-202X(19)33390-1. doi: 10.1016/j.jid.2019.08.455. [Epub ahead of print] No abstract available.

PMID:
31726051
3.

Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment.

Laforêt P, Inoue M, Goillot E, Lefeuvre C, Cagin U, Streichenberger N, Leonard-Louis S, Brochier G, Madelaine A, Labasse C, Hedberg-Oldfors C, Krag T, Jauze L, Fabregue J, Labrune P, Milisenda J, Nadaj-Pakleza A, Sacconi S, Mingozzi F, Ronzitti G, Petit F, Schoser B, Oldfors A, Vissing J, Romero NB, Nishino I, Malfatti E.

Acta Neuropathol Commun. 2019 Oct 28;7(1):167. doi: 10.1186/s40478-019-0815-2.

4.

Pigmented paravenous chorioretinal atrophy revealing a chronic granulomatous disease.

Smirnov VM, Ley D, Nelken B, Petit F, Defoort-Dhellemmes S.

Ophthalmic Genet. 2019 Oct;40(5):470-473. doi: 10.1080/13816810.2019.1681009. Epub 2019 Oct 19.

PMID:
31631731
5.

Design and Control of Extrachromosomal Elements in Methylorubrum extorquens AM1.

Carrillo M, Wagner M, Petit F, Dransfeld A, Becker A, Erb TJ.

ACS Synth Biol. 2019 Nov 15;8(11):2451-2456. doi: 10.1021/acssynbio.9b00220. Epub 2019 Oct 21.

6.

Multiplex targeted high-throughput sequencing in a series of 352 patients with congenital limb malformations.

Jourdain AS, Petit F, Odou MF, Balduyck M, Brunelle P, Dufour W, Boussion S, Brischoux-Boucher E, Colson C, Dieux A, Gérard M, Ghoumid J, Giuliano F, Goldenberg A, Khau Van Kien P, Lehalle D, Morin G, Moutton S, Smol T, Vanlerberghe C, Manouvrier-Hanu S, Escande F.

Hum Mutat. 2020 Jan;41(1):222-239. doi: 10.1002/humu.23912. Epub 2019 Sep 23.

PMID:
31502745
7.

Encephalopathy induced by Alzheimer brain inoculation in a non-human primate.

Gary C, Lam S, Hérard AS, Koch JE, Petit F, Gipchtein P, Sawiak SJ, Caillierez R, Eddarkaoui S, Colin M, Aujard F, Deslys JP; French Neuropathology Network, Brouillet E, Buée L, Comoy EE, Pifferi F, Picq JL, Dhenain M.

Acta Neuropathol Commun. 2019 Sep 4;7(1):126. doi: 10.1186/s40478-019-0771-x.

8.

Oxygen fractionation in dense molecular clouds.

Loison JC, Wakelam V, Gratier P, Hickson KM, Bacmann A, Agùndez M, Marcelino N, Cernicharo J, Guzman V, Gerin M, Goicoechea JR, Roueff E, Le Petit F, Pety J, Fuente A, Riviere-Marichalar P.

Mon Not R Astron Soc. 2019 Jun;485(4):5777-5789. doi: 10.1093/mnras/stz560. Epub 2019 Feb 27.

9.

Identification of a pituitary ERα-activated enhancer triggering the expression of Nr5a1, the earliest gonadotrope lineage-specific transcription factor.

Pacini V, Petit F, Querat B, Laverriere JN, Cohen-Tannoudji J, L'hôte D.

Epigenetics Chromatin. 2019 Aug 7;12(1):48. doi: 10.1186/s13072-019-0291-8.

10.

Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals.

Margot H, Boursier G, Duflos C, Sanchez E, Amiel J, Andrau JC, Arpin S, Brischoux-Boucher E, Boute O, Burglen L, Caille C, Capri Y, Collignon P, Conrad S, Cormier-Daire V, Delplancq G, Dieterich K, Dollfus H, Fradin M, Faivre L, Fernandes H, Francannet C, Gatinois V, Gerard M, Goldenberg A, Ghoumid J, Grotto S, Guerrot AM, Guichet A, Isidor B, Jacquemont ML, Julia S, Khau Van Kien P, Legendre M, Le Quan Sang KH, Leheup B, Lyonnet S, Magry V, Manouvrier S, Martin D, Morel G, Munnich A, Naudion S, Odent S, Perrin L, Petit F, Philip N, Rio M, Robbe J, Rossi M, Sarrazin E, Toutain A, Van Gils J, Vera G, Verloes A, Weber S, Whalen S, Sanlaville D, Lacombe D, Aladjidi N, Geneviève D.

Genet Med. 2020 Jan;22(1):181-188. doi: 10.1038/s41436-019-0623-x. Epub 2019 Jul 31.

PMID:
31363182
11.

Regenerative cell therapy for the treatment of hyperbilirubinemic Gunn rats with fresh and frozen human induced pluripotent stem cells-derived hepatic stem cells.

Fourrier A, Delbos F, Menoret S, Collet C, Thi Thuy LT, Myara A, Petit F, Tolosa L, Laplanche S, Gómez-Lechón MJ, Labrune P, Anegon I, Vallier L, Garnier D, Nguyen TH.

Xenotransplantation. 2019 Jul 25:e12544. doi: 10.1111/xen.12544. [Epub ahead of print]

PMID:
31342573
12.

A clinical scoring system for congenital contractural arachnodactyly.

Meerschaut I, De Coninck S, Steyaert W, Barnicoat A, Bayat A, Benedicenti F, Berland S, Blair EM, Breckpot J, de Burca A, Destrée A, García-Miñaúr S, Green AJ, Hanna BC, Keymolen K, Koopmans M, Lederer D, Lees M, Longman C, Lynch SA, Male AM, McKenzie F, Migeotte I, Mihci E, Nur B, Petit F, Piard J, Plasschaert FS, Rauch A, Ribaï P, Pacheco IS, Stanzial F, Stolte-Dijkstra I, Valenzuela I, Varghese V, Vasudevan PC, Wakeling E, Wallgren-Pettersson C, Coucke P, De Paepe A, De Wolf D, Symoens S, Callewaert B.

Genet Med. 2020 Jan;22(1):124-131. doi: 10.1038/s41436-019-0609-8. Epub 2019 Jul 18.

PMID:
31316167
13.

Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix.

Delbaere S, Dhooge T, Syx D, Petit F, Goemans N, Destrée A, Vanakker O, De Rycke R, Symoens S, Malfait F.

Genet Med. 2020 Jan;22(1):112-123. doi: 10.1038/s41436-019-0599-6. Epub 2019 Jul 5.

PMID:
31273343
14.

Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature.

Paththinige CS, Sirisena ND, Escande F, Manouvrier S, Petit F, Dissanayake VHW.

BMC Med Genet. 2019 Jun 14;20(1):108. doi: 10.1186/s12881-019-0839-2. Review.

15.

Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies.

Wahbi K, Ben Yaou R, Gandjbakhch E, Anselme F, Gossios T, Lakdawala NK, Stalens C, Sacher F, Babuty D, Trochu JN, Moubarak G, Savvatis K, Porcher R, Laforêt P, Fayssoil A, Marijon E, Stojkovic T, Béhin A, Leonard-Louis S, Sole G, Labombarda F, Richard P, Metay C, Quijano-Roy S, Dabaj I, Klug D, Vantyghem MC, Chevalier P, Ambrosi P, Salort E, Sadoul N, Waintraub X, Chikhaoui K, Mabo P, Combes N, Maury P, Sellal JM, Tedrow UB, Kalman JM, Vohra J, Androulakis AFA, Zeppenfeld K, Thompson T, Barnerias C, Bécane HM, Bieth E, Boccara F, Bonnet D, Bouhour F, Boulé S, Brehin AC, Chapon F, Cintas P, Cuisset JM, Davy JM, De Sandre-Giovannoli A, Demurger F, Desguerre I, Dieterich K, Durigneux J, Echaniz-Laguna A, Eschalier R, Ferreiro A, Ferrer X, Francannet C, Fradin M, Gaborit B, Gay A, Hagège A, Isapof A, Jeru I, Juntas Morales R, Lagrue E, Lamblin N, Lascols O, Laugel V, Lazarus A, Leturcq F, Levy N, Magot A, Manel V, Martins R, Mayer M, Mercier S, Meune C, Michaud M, Minot-Myhié MC, Muchir A, Nadaj-Pakleza A, Péréon Y, Petiot P, Petit F, Praline J, Rollin A, Sabouraud P, Sarret C, Schaeffer S, Taithe F, Tard C, Tiffreau V, Toutain A, Vatier C, Walther-Louvier U, Eymard B, Charron P, Vigouroux C, Bonne G, Kumar S, Elliott P, Duboc D.

Circulation. 2019 Jul 23;140(4):293-302. doi: 10.1161/CIRCULATIONAHA.118.039410. Epub 2019 Jun 3.

PMID:
31155932
16.

WNT10B variants in split hand/foot malformation: Report of three novel families and review of the literature.

Brunelle P, Jourdain AS, Escande F, Martinovic J, Dupont J, Busa T, Moncla A, Frénois F, Stichelbout M, Manouvrier-Hanu S, Petit F.

Am J Med Genet A. 2019 Jul;179(7):1351-1356. doi: 10.1002/ajmg.a.61177. Epub 2019 May 3.

PMID:
31050392
17.

New insights into black truffle biology: discovery of the potential connecting structure between a Tuber aestivum ascocarp and its host root.

Deveau A, Clowez P, Petit F, Maurice JP, Todesco F, Murat C, Harroué M, Ruelle J, Le Tacon F.

Mycorrhiza. 2019 May;29(3):219-226. doi: 10.1007/s00572-019-00892-4. Epub 2019 Apr 15.

PMID:
30989396
18.

Whole-Body Muscle Magnetic Resonance Imaging in Glycogen-Storage Disease Type III.

Tobaly D, Laforêt P, Perry A, Habes D, Labrune P, Decostre V, Masingue M, Petit F, Barp A, Bello L, Carlier P, Carlier RY.

Muscle Nerve. 2019 Jul;60(1):72-79. doi: 10.1002/mus.26483. Epub 2019 Apr 24.

PMID:
30972778
19.

Bloom syndrome protein restrains innate immune sensing of micronuclei by cGAS.

Gratia M, Rodero MP, Conrad C, Bou Samra E, Maurin M, Rice GI, Duffy D, Revy P, Petit F, Dale RC, Crow YJ, Amor-Gueret M, Manel N.

J Exp Med. 2019 May 6;216(5):1199-1213. doi: 10.1084/jem.20181329. Epub 2019 Apr 1.

20.

[Ovarian estradiol production during mini-puberty: importance of the cross-talk between FSH and AMH].

Devillers MM, Petit F, Cluzet V, François CM, Giton F, Garrel G, Cohen-Tannoudji J, Guigon CJ.

Med Sci (Paris). 2019 Mar;35(3):201-203. doi: 10.1051/medsci/2019042. Epub 2019 Apr 1. French. No abstract available.

PMID:
30931900
21.

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.

Karolak JA, Vincent M, Deutsch G, Gambin T, Cogné B, Pichon O, Vetrini F, Mefford HC, Dines JN, Golden-Grant K, Dipple K, Freed AS, Leppig KA, Dishop M, Mowat D, Bennetts B, Gifford AJ, Weber MA, Lee AF, Boerkoel CF, Bartell TM, Ward-Melver C, Besnard T, Petit F, Bache I, Tümer Z, Denis-Musquer M, Joubert M, Martinovic J, Bénéteau C, Molin A, Carles D, André G, Bieth E, Chassaing N, Devisme L, Chalabreysse L, Pasquier L, Secq V, Don M, Orsaria M, Missirian C, Mortreux J, Sanlaville D, Pons L, Küry S, Bézieau S, Liet JM, Joram N, Bihouée T, Scott DA, Brown CW, Scaglia F, Tsai AC, Grange DK, Phillips JA 3rd, Pfotenhauer JP, Jhangiani SN, Gonzaga-Jauregui CG, Chung WK, Schauer GM, Lipson MH, Mercer CL, van Haeringen A, Liu Q, Popek E, Coban Akdemir ZH, Lupski JR, Szafranski P, Isidor B, Le Caignec C, Stankiewicz P.

Am J Hum Genet. 2019 Feb 7;104(2):213-228. doi: 10.1016/j.ajhg.2018.12.010. Epub 2019 Jan 10.

22.

Duplication of 10q24 locus: broadening the clinical and radiological spectrum.

Holder-Espinasse M, Jamsheer A, Escande F, Andrieux J, Petit F, Sowinska-Seidler A, Socha M, Jakubiuk-Tomaszuk A, Gerard M, Mathieu-Dramard M, Cormier-Daire V, Verloes A, Toutain A, Plessis G, Jonveaux P, Baumann C, David A, Farra C, Colin E, Jacquemont S, Rossi A, Mansour S, Ghali N, Moncla A, Lahiri N, Hurst J, Pollina E, Patch C, Ahn JW, Valat AS, Mezel A, Bourgeot P, Zhang D, Manouvrier-Hanu S.

Eur J Hum Genet. 2019 Apr;27(4):525-534. doi: 10.1038/s41431-018-0326-9. Epub 2019 Jan 8.

PMID:
30622331
23.

Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes.

Mary L, Chennen K, Stoetzel C, Antin M, Leuvrey A, Nourisson E, Alanio-Detton E, Antal MC, Attié-Bitach T, Bouvagnet P, Bouvier R, Buenerd A, Clémenson A, Devisme L, Gasser B, Gilbert-Dussardier B, Guimiot F, Khau Van Kien P, Leroy B, Loget P, Martinovic J, Pelluard F, Perez MJ, Petit F, Pinson L, Rooryck-Thambo C, Poch O, Dollfus H, Schaefer E, Muller J.

Clin Genet. 2019 Mar;95(3):384-397. doi: 10.1111/cge.13500.

PMID:
30614526
24.

Spinal muscular atrophy with respiratory distress type 1: A multicenter retrospective study.

Viguier A, Lauwers-Cances V, Cintas P, Manel V, Peudenier S, Desguerre I, Quijano-Roy S, Vanhulle C, Fradin M, Isapof A, Jokic M, Mathieu-Dramard M, Dieterich K, Petit F, Magdelaine C, Giuliano F, Gras D, Haye D, Nizon M, Magen M, Bieth E, Cances C.

Neuromuscul Disord. 2019 Feb;29(2):114-126. doi: 10.1016/j.nmd.2018.10.002. Epub 2018 Oct 31.

PMID:
30598237
25.

Sex differences in mandibular repositioning device therapy effectiveness in patients with obstructive sleep apnea syndrome.

Vecchierini MF, Attali V, Collet JM, d'Ortho MP, Goutorbe F, Kerbrat JB, Leger D, Lavergne F, Monaca C, Monteyrol PJ, Morin L, Mullens E, Pigearias B, Martin F, Khemliche H, Lerousseau L, Meurice JC; ORCADES investigators, Abedipour D, Allard-Redon A, Aranda A, Attali V, Bavozet F, Becu M, Beruben W, Bessard J, Bonafe I, Boukhana M, Chabrol B, Chatte G, Lebret C, Collet JM, Coste O, Dumont N, Durand-Amat S, D'ortho MP, Elbaum JM, De Santerre OG, Goutorbes F, Grandjean T, Guyot W, Hammer D, Havasi C, Huet P, Kerbrat JB, Khemliche H, Koltes C, Leger D, Lacassagne L, Laur X, Lerousseau L, Liard O, Loisel C, Longuet M, Mallart A, Martin F, Merle Beral F, Meurice JC, Mokhtari Z, Monaca C, Monteyrol PJ, Muir JF, Mullens E, Muller D, Paoli C, Petit FX, Pigearias B, Pradines M, Prigent A, Putterman G, Rey M, Samama M, Tamisier R, Tiberge M, Tison C, Tordjman F, Triolet B, Vacher C, Vecchierini MF, Verain A.

Sleep Breath. 2019 Sep;23(3):837-848. doi: 10.1007/s11325-018-1766-8. Epub 2018 Dec 22.

26.

Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants.

Vanlerberghe C, Jourdain AS, Ghoumid J, Frenois F, Mezel A, Vaksmann G, Lenne B, Delobel B, Porchet N, Cormier-Daire V, Smol T, Escande F, Manouvrier-Hanu S, Petit F.

Eur J Hum Genet. 2019 Mar;27(3):360-368. doi: 10.1038/s41431-018-0303-3. Epub 2018 Dec 14.

PMID:
30552424
27.

A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing.

Krahn M, Biancalana V, Cerino M, Perrin A, Michel-Calemard L, Nectoux J, Leturcq F, Bouchet-Séraphin C, Acquaviva-Bourdain C, Campana-Salort E, Molon A, Urtizberea JA, Audic F, Chabrol B, Pouget J, Froissart R, Melki J, Rendu J, Petit F, Métay C, Seta N, Sternberg D, Fauré J, Cossée M.

Eur J Hum Genet. 2019 Mar;27(3):349-352. doi: 10.1038/s41431-018-0305-1. Epub 2018 Dec 14.

PMID:
30552423
28.

FSH inhibits AMH to support ovarian estradiol synthesis in infantile mice.

Devillers MM, Petit F, Cluzet V, François CM, Giton F, Garrel G, Cohen-Tannoudji J, Guigon CJ.

J Endocrinol. 2019 Feb 1;240(2):215-228. doi: 10.1530/JOE-18-0313.

PMID:
30403655
29.

NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.

Schanze I, Bunt J, Lim JWC, Schanze D, Dean RJ, Alders M, Blanchet P, Attié-Bitach T, Berland S, Boogert S, Boppudi S, Bridges CJ, Cho MT, Dobyns WB, Donnai D, Douglas J, Earl DL, Edwards TJ, Faivre L, Fregeau B, Genevieve D, Gérard M, Gatinois V, Holder-Espinasse M, Huth SF, Izumi K, Kerr B, Lacaze E, Lakeman P, Mahida S, Mirzaa GM, Morgan SM, Nowak C, Peeters H, Petit F, Pilz DT, Puechberty J, Reinstein E, Rivière JB, Santani AB, Schneider A, Sherr EH, Smith-Hicks C, Wieland I, Zackai E, Zhao X, Gronostajski RM, Zenker M, Richards LJ.

Am J Hum Genet. 2018 Nov 1;103(5):752-768. doi: 10.1016/j.ajhg.2018.10.006.

30.

Modulation of astrocyte reactivity improves functional deficits in mouse models of Alzheimer's disease.

Ceyzériat K, Ben Haim L, Denizot A, Pommier D, Matos M, Guillemaud O, Palomares MA, Abjean L, Petit F, Gipchtein P, Gaillard MC, Guillermier M, Bernier S, Gaudin M, Aurégan G, Joséphine C, Déchamps N, Veran J, Langlais V, Cambon K, Bemelmans AP, Baijer J, Bonvento G, Dhenain M, Deleuze JF, Oliet SHR, Brouillet E, Hantraye P, Carrillo-de Sauvage MA, Olaso R, Panatier A, Escartin C.

Acta Neuropathol Commun. 2018 Oct 16;6(1):104. doi: 10.1186/s40478-018-0606-1.

31.

Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability.

Verheije R, Kupchik GS, Isidor B, Kroes HY, Lynch SA, Hawkes L, Hempel M, Gelb BD, Ghoumid J, D'Amours G, Chandler K, Dubourg C, Loddo S, Tümer Z, Shaw-Smith C, Nizon M, Shevell M, Van Hoof E, Anyane-Yeboa K, Cerbone G, Clayton-Smith J, Cogné B, Corre P, Corveleyn A, De Borre M, Hjortshøj TD, Fradin M, Gewillig M, Goldmuntz E, Hens G, Lemyre E, Journel H, Kini U, Kortüm F, Le Caignec C, Novelli A, Odent S, Petit F, Revah-Politi A, Stong N, Strom TM, van Binsbergen E; DDD study, Devriendt K, Breckpot J.

Eur J Hum Genet. 2019 Feb;27(2):278-290. doi: 10.1038/s41431-018-0281-5. Epub 2018 Oct 5.

PMID:
30291340
32.

The chemistry of disks around T Tauri and Herbig Ae/Be stars.

Agúndez M, Roueff E, Le Petit F, Le Bourlot J.

Astron Astrophys. 2018 Aug 7;616. pii: A19. doi: 10.1051/0004-6361/201732518.

33.

Structure of photodissociation fronts in star-forming regions revealed by observations of high-J CO emission lines with Herschel.

Joblin C, Bron E, Pinto C, Pilleri P, Le Petit F, Gerin M, Le Bourlot J, Fuente A, Berne O, Goicoechea JR, Habart E, Köhler M, Teyssier D, Nagy Z, Montillaud J, Vastel C, Cernicharo J, Röllig M, Ossenkopf-Okada V, Bergin EA.

Astron Astrophys. 2018 Jul;615. pii: A129. doi: 10.1051/0004-6361/201832611. Epub 2018 Jul 27.

34.

The radial expansion of the Diego blood group system polymorphisms in Asia: mark of co-migration with the Mongol conquests.

Petit F, Minnai F, Chiaroni J, Underhill PA, Bailly P, Mazières S, Costedoat C.

Eur J Hum Genet. 2019 Jan;27(1):125-132. doi: 10.1038/s41431-018-0245-9. Epub 2018 Aug 24.

35.

In Vivo MRI of Functionalized Iron Oxide Nanoparticles for Brain Inflammation.

Tang T, Valenzuela A, Petit F, Chow S, Leung K, Gorin F, Louie AY, Dhenain M.

Contrast Media Mol Imaging. 2018 Jun 25;2018:3476476. doi: 10.1155/2018/3476476. eCollection 2018.

36.

GnRH regulates the expression of its receptor accessory protein SET in pituitary gonadotropes.

Avet C, Denoyelle C, L'Hôte D, Petit F, Guigon CJ, Cohen-Tannoudji J, Simon V.

PLoS One. 2018 Jul 27;13(7):e0201494. doi: 10.1371/journal.pone.0201494. eCollection 2018.

37.

Distinct Clinical and Genetic Findings in Iranian Patients With Glycogen Storage Disease Type 3.

Nazari F, Sinaei F, Nilipour Y, Petit F, Oveisgharan S, Nassiri-Toosi M, Razzaghy-Azar M, Mahmoudi M, Nafissi S.

J Clin Neuromuscul Dis. 2018 Jun;19(4):203-210. doi: 10.1097/CND.0000000000000212.

PMID:
29794575
38.

Exercise testing-based algorithms to diagnose McArdle disease and MAD defects.

Noury JB, Zagnoli F, Carré JL, Drouillard I, Petit F, Le Maréchal C, Marcorelles P, Rannou F.

Acta Neurol Scand. 2018 Oct;138(4):301-307. doi: 10.1111/ane.12957. Epub 2018 May 10.

PMID:
29749052
39.

15q24.1 BP4-BP1 microdeletion unmasking paternally inherited functional polymorphisms combined with distal 15q24.2q24.3 duplication in a patient with epilepsy, psychomotor delay, overweight, ventricular arrhythmia.

Huynh MT, Lambert AS, Tosca L, Petit F, Philippe C, Parisot F, Benoît V, Linglart A, Brisset S, Tran CT, Tachdjian G, Receveur A.

Eur J Med Genet. 2018 Aug;61(8):459-464. doi: 10.1016/j.ejmg.2018.03.005. Epub 2018 Mar 14.

PMID:
29549028
40.

The striatal kinase DCLK3 produces neuroprotection against mutant huntingtin.

Galvan L, Francelle L, Gaillard MC, de Longprez L, Carrillo-de Sauvage MA, Liot G, Cambon K, Stimmer L, Luccantoni S, Flament J, Valette J, de Chaldée M, Auregan G, Guillermier M, Joséphine C, Petit F, Jan C, Jarrige M, Dufour N, Bonvento G, Humbert S, Saudou F, Hantraye P, Merienne K, Bemelmans AP, Perrier AL, Déglon N, Brouillet E.

Brain. 2018 May 1;141(5):1434-1454. doi: 10.1093/brain/awy057.

41.

MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.

Smol T, Petit F, Piton A, Keren B, Sanlaville D, Afenjar A, Baker S, Bedoukian EC, Bhoj EJ, Bonneau D, Boudry-Labis E, Bouquillon S, Boute-Benejean O, Caumes R, Chatron N, Colson C, Coubes C, Coutton C, Devillard F, Dieux-Coeslier A, Doco-Fenzy M, Ewans LJ, Faivre L, Fassi E, Field M, Fournier C, Francannet C, Genevieve D, Giurgea I, Goldenberg A, Green AK, Guerrot AM, Heron D, Isidor B, Keena BA, Krock BL, Kuentz P, Lapi E, Le Meur N, Lesca G, Li D, Marey I, Mignot C, Nava C, Nesbitt A, Nicolas G, Roche-Lestienne C, Roscioli T, Satre V, Santani A, Stefanova M, Steinwall Larsen S, Saugier-Veber P, Picker-Minh S, Thuillier C, Verloes A, Vieville G, Wenzel M, Willems M, Whalen S, Zarate YA, Ziegler A, Manouvrier-Hanu S, Kalscheuer VM, Gerard B, Ghoumid J.

Neurogenetics. 2018 May;19(2):93-103. doi: 10.1007/s10048-018-0541-0. Epub 2018 Mar 6.

PMID:
29511999
42.

Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation.

Drecourt A, Babdor J, Dussiot M, Petit F, Goudin N, Garfa-Traoré M, Habarou F, Bole-Feysot C, Nitschké P, Ottolenghi C, Metodiev MD, Serre V, Desguerre I, Boddaert N, Hermine O, Munnich A, Rötig A.

Am J Hum Genet. 2018 Feb 1;102(2):266-277. doi: 10.1016/j.ajhg.2018.01.003.

43.

First prenatal case of proximal 19p13.12 microdeletion syndrome: New insights and new delineation of the syndrome.

Huynh MT, Tosca L, Petit F, Martinovic J, Proust A, Bouligand J, Amiel J, Azria E, Parisot F, Benoit V, Receveur A, Drévillon L, Tachdjian G, Brisset S.

Eur J Med Genet. 2018 Jun;61(6):322-328. doi: 10.1016/j.ejmg.2018.01.009. Epub 2018 Feb 3.

PMID:
29366875
44.

The role of electrodiagnosis with long exercise test in mcardle disease.

Semplicini C, Hézode-Arzel M, Laforêt P, Béhin A, Leonard-Louis S, Hogrel JY, Petit F, Eymard B, Stojkovic T, Fournier E.

Muscle Nerve. 2018 Jan 19. doi: 10.1002/mus.26074. [Epub ahead of print]

PMID:
29350794
45.

Genetics of patella hypoplasia/agenesis.

Vanlerberghe C, Boutry N, Petit F.

Clin Genet. 2018 Jul;94(1):43-53. doi: 10.1111/cge.13209. Epub 2018 Apr 11. Review.

PMID:
29322497
46.

Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency.

Ben Yaou R, Hubert A, Nelson I, Dahlqvist JR, Gaist D, Streichenberger N, Beuvin M, Krahn M, Petiot P, Parisot F, Michel F, Malfatti E, Romero N, Carlier RY, Eymard B, Labrune P, Duno M, Krag T, Cerino M, Bartoli M, Bonne G, Vissing J, Laforet P, Petit FM.

Neurol Genet. 2017 Dec 18;3(6):e208. doi: 10.1212/NXG.0000000000000208. eCollection 2017 Dec.

47.

Potentiating tangle formation reduces acute toxicity of soluble tau species in the rat.

d'Orange M, Aurégan G, Cheramy D, Gaudin-Guérif M, Lieger S, Guillermier M, Stimmer L, Joséphine C, Hérard AS, Gaillard MC, Petit F, Kiessling MC, Schmitz C, Colin M, Buée L, Panayi F, Diguet E, Brouillet E, Hantraye P, Bemelmans AP, Cambon K.

Brain. 2018 Feb 1;141(2):535-549. doi: 10.1093/brain/awx342.

48.

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder.

Cuvertino S, Stuart HM, Chandler KE, Roberts NA, Armstrong R, Bernardini L, Bhaskar S, Callewaert B, Clayton-Smith J, Davalillo CH, Deshpande C, Devriendt K, Digilio MC, Dixit A, Edwards M, Friedman JM, Gonzalez-Meneses A, Joss S, Kerr B, Lampe AK, Langlois S, Lennon R, Loget P, Ma DYT, McGowan R, Des Medt M, O'Sullivan J, Odent S, Parker MJ, Pebrel-Richard C, Petit F, Stark Z, Stockler-Ipsiroglu S, Tinschert S, Vasudevan P, Villa O, White SM, Zahir FR; DDD Study, Woolf AS, Banka S.

Am J Hum Genet. 2017 Dec 7;101(6):1021-1033. doi: 10.1016/j.ajhg.2017.11.006.

49.

Severe asymmetric muscle weakness revealing glycogenin-1 polyglucosan body myopathy.

Stojkovic T, Chanut A, Laforêt P, Madelaine A, Petit F, Romero NB, Malfatti E.

Muscle Nerve. 2018 May;57(5):E122-E124. doi: 10.1002/mus.26030. Epub 2017 Dec 22. No abstract available.

PMID:
29205400
50.

Inactivation of AMMECR1 is associated with growth, bone, and heart alterations.

Moysés-Oliveira M, Giannuzzi G, Fish RJ, Rosenfeld JA, Petit F, Soares MF, Kulikowski LD, Di-Battista A, Zamariolli M, Xia F, Liehr T, Kosyakova N, Carvalheira G, Parker M, Seaby EG, Ennis S, Gilbert RD, Hagelstrom RT, Cremona ML, Li WL, Malhotra A, Chandrasekhar A, Perry DL, Taft RJ, McCarrier J, Basel DG, Andrieux J, Stumpp T, Antunes F, Pereira GJ, Neerman-Arbez M, Meloni VA, Drummond-Borg M, Melaragno MI, Reymond A.

Hum Mutat. 2018 Feb;39(2):281-291. doi: 10.1002/humu.23373. Epub 2017 Dec 14.

PMID:
29193635

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