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Items: 1 to 50 of 316

1.

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. 2019 Jul 31. doi: 10.1038/s41436-019-0623-x. [Epub ahead of print]

PMID:
31363182
2.

Bi-allelic missense ABCA3 mutations in a patient with childhood ILD who reached adulthood.

Manali ED, Legendre M, Nathan N, Kannengiesser C, Coulomb-L'Hermine A, Tsiligiannis T, Tomos P, Griese M, Borie R, Clement A, Amselem S, Crestani B, Papiris SA.

ERJ Open Res. 2019 Jul 22;5(3). pii: 00066-2019. doi: 10.1183/23120541.00066-2019. eCollection 2019 Jul.

3.

Inhibition of Ebola Virus by a Molecularly Engineered Banana Lectin.

Covés-Datson EM, Dyall J, DeWald LE, King SR, Dube D, Legendre M, Nelson E, Drews KC, Gross R, Gerhardt DM, Torzewski L, Postnikova E, Liang JY, Ban B, Shetty J, Hensley LE, Jahrling PB, Olinger GG Jr, White JM, Markovitz DM.

PLoS Negl Trop Dis. 2019 Jul 29;13(7):e0007595. doi: 10.1371/journal.pntd.0007595. eCollection 2019 Jul.

4.

Extreme Short Stature and Severe Neurological Impairment in a 17-Year-Old Male With Untreated Combined Pituitary Hormone Deficiency Due to POU1F1 Mutation.

Majdoub H, Amselem S, Legendre M, Rath S, Bercovich D, Tenenbaum-Rakover Y.

Front Endocrinol (Lausanne). 2019 Jun 27;10:381. doi: 10.3389/fendo.2019.00381. eCollection 2019.

5.

Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations.

Cohen E, Belkacem S, Fedala S, Collot N, Khallouf E, Dastot F, Polak M, Duquesnoy P, Brioude F, Rose S, Viot G, Soleyan A, Carel JC, Sobrier ML, Chanson P, Gatelais F, Heinrichs C, Kaffel N, Coutant R, Savaş Erdeve Ş, Kurnaz E, Aycan Z, Thalassinos C, Lyonnet S, Şıklar Z, Berberoglu M, Brachet C, Amselem S, Legendre M.

Hum Mutat. 2019 Jun 24. doi: 10.1002/humu.23847. [Epub ahead of print]

PMID:
31231873
6.

Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia.

Whitfield M, Thomas L, Bequignon E, Schmitt A, Stouvenel L, Montantin G, Tissier S, Duquesnoy P, Copin B, Chantot S, Dastot F, Faucon C, Barbotin AL, Loyens A, Siffroi JP, Papon JF, Escudier E, Amselem S, Mitchell V, Touré A, Legendre M.

Am J Hum Genet. 2019 Jul 3;105(1):198-212. doi: 10.1016/j.ajhg.2019.04.015. Epub 2019 Jun 6.

PMID:
31178125
7.

Secreted nuclear protein DEK regulates hematopoiesis through CXCR2 signaling.

Capitano ML, Mor-Vaknin N, Saha AK, Cooper S, Legendre M, Guo H, Contreras-Galindo R, Kappes F, Sartor MA, Lee CT, Huang X, Markovitz DM, Broxmeyer HE.

J Clin Invest. 2019 May 20;129(6):2555-2570. doi: 10.1172/JCI127460. eCollection 2019 May 20.

8.

A Novel Homozygous Nonsense HYDIN Gene Mutation p.(Arg951*) in Primary Ciliary Dyskinesia.

Benjamin AT, Ganesh R, Gaspar BL, Lucas J, Jackson C, Legendre M, Mani R, Escudier E.

Indian J Pediatr. 2019 Jul;86(7):664-665. doi: 10.1007/s12098-019-02970-z. Epub 2019 May 14. No abstract available.

PMID:
31089940
9.

Critical Evaluation of Sinonasal Disease in 64 Adults with Primary Ciliary Dyskinesia.

Bequignon E, Dupuy L, Zerah-Lancner F, Bassinet L, Honoré I, Legendre M, Devars du Mayne M, Escabasse V, Crestani B, Maître B, Escudier E, Coste A, Papon JF.

J Clin Med. 2019 May 7;8(5). pii: E619. doi: 10.3390/jcm8050619.

10.

A Nonsmoker Man in His 40s With a Diagnosis of Genetic-Related Idiopathic Pulmonary Fibrosis (Surfactant-Protein C Gene Mutation).

Fattori A, Ohana M, Hirschi S, Kessler R, Santelmo N, Nathan N, Chenard MP, Raymond S, Legendre M, Calabrese F.

Chest. 2019 Apr;155(4):e91-e96. doi: 10.1016/j.chest.2018.12.015.

PMID:
30955586
11.

Pandoravirus Celtis Illustrates the Microevolution Processes at Work in the Giant Pandoraviridae Genomes.

Legendre M, Alempic JM, Philippe N, Lartigue A, Jeudy S, Poirot O, Ta NT, Nin S, Couté Y, Abergel C, Claverie JM.

Front Microbiol. 2019 Mar 8;10:430. doi: 10.3389/fmicb.2019.00430. eCollection 2019.

12.

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Cogné B, Ehresmann S, Beauregard-Lacroix E, Rousseau J, Besnard T, Garcia T, Petrovski S, Avni S, McWalter K, Blackburn PR, Sanders SJ, Uguen K, Harris J, Cohen JS, Blyth M, Lehman A, Berg J, Li MH, Kini U, Joss S, von der Lippe C, Gordon CT, Humberson JB, Robak L, Scott DA, Sutton VR, Skraban CM, Johnston JJ, Poduri A, Nordenskjöld M, Shashi V, Gerkes EH, Bongers EMHF, Gilissen C, Zarate YA, Kvarnung M, Lally KP, Kulch PA, Daniels B, Hernandez-Garcia A, Stong N, McGaughran J, Retterer K, Tveten K, Sullivan J, Geisheker MR, Stray-Pedersen A, Tarpinian JM, Klee EW, Sapp JC, Zyskind J, Holla ØL, Bedoukian E, Filippini F, Guimier A, Picard A, Busk ØL, Punetha J, Pfundt R, Lindstrand A, Nordgren A, Kalb F, Desai M, Ebanks AH, Jhangiani SN, Dewan T, Coban Akdemir ZH, Telegrafi A, Zackai EH, Begtrup A, Song X, Toutain A, Wentzensen IM, Odent S, Bonneau D, Latypova X, Deb W; CAUSES Study, Redon S, Bilan F, Legendre M, Troyer C, Whitlock K, Caluseriu O, Murphree MI, Pichurin PN, Agre K, Gavrilova R, Rinne T, Park M, Shain C, Heinzen EL, Xiao R, Amiel J, Lyonnet S, Isidor B, Biesecker LG, Lowenstein D, Posey JE, Denommé-Pichon AS; Deciphering Developmental Disorders study, Férec C, Yang XJ, Rosenfeld JA, Gilbert-Dussardier B, Audebert-Bellanger S, Redon R, Stessman HAF, Nellaker C, Yang Y, Lupski JR, Goldstein DB, Eichler EE, Bolduc F, Bézieau S, Küry S, Campeau PM.

Am J Hum Genet. 2019 Mar 7;104(3):530-541. doi: 10.1016/j.ajhg.2019.01.010. Epub 2019 Feb 28.

PMID:
30827496
13.

Sperm motility of the Nile tilapia (Oreochromis niloticus): Effects of temperature on the swimming characteristics.

Dzyuba B, Legendre M, Baroiller JF, Cosson J.

Anim Reprod Sci. 2019 Mar;202:65-72. doi: 10.1016/j.anireprosci.2019.01.010. Epub 2019 Jan 29.

PMID:
30717995
14.

Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance.

Bustamante-Marin XM, Yin WN, Sears PR, Werner ME, Brotslaw EJ, Mitchell BJ, Jania CM, Zeman KL, Rogers TD, Herring LE, Refabért L, Thomas L, Amselem S, Escudier E, Legendre M, Grubb BR, Knowles MR, Zariwala MA, Ostrowski LE.

Am J Hum Genet. 2019 Feb 7;104(2):229-245. doi: 10.1016/j.ajhg.2018.12.009. Epub 2019 Jan 18.

15.

[Giant viruses that create their own genes].

Claverie JM, Abergel C, Legendre M.

Med Sci (Paris). 2018 Dec;34(12):1087-1091. doi: 10.1051/medsci/2018300. Epub 2019 Jan 9. Review. French.

PMID:
30623766
16.

Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus.

Fassad MR, Shoemark A, Legendre M, Hirst RA, Koll F, le Borgne P, Louis B, Daudvohra F, Patel MP, Thomas L, Dixon M, Burgoyne T, Hayes J, Nicholson AG, Cullup T, Jenkins L, Carr SB, Aurora P, Lemullois M, Aubusson-Fleury A, Papon JF, O'Callaghan C, Amselem S, Hogg C, Escudier E, Tassin AM, Mitchison HM.

Am J Hum Genet. 2018 Dec 6;103(6):984-994. doi: 10.1016/j.ajhg.2018.10.016. Epub 2018 Nov 21.

17.

Screening a large pediatric cohort with GH deficiency for mutations in genes regulating pituitary development and GH secretion: Frequencies, phenotypes and growth outcomes.

Blum WF, Klammt J, Amselem S, Pfäffle HM, Legendre M, Sobrier ML, Luton MP, Child CJ, Jones C, Zimmermann AG, Quigley CA, Cutler GB Jr, Deal CL, Lebl J, Rosenfeld RG, Parks JS, Pfäffle RW.

EBioMedicine. 2018 Oct;36:390-400. doi: 10.1016/j.ebiom.2018.09.026. Epub 2018 Sep 25. No abstract available.

18.

Uraemia-induced immune senescence and clinical outcomes in chronic kidney disease patients.

Crépin T, Legendre M, Carron C, Vachey C, Courivaud C, Rebibou JM, Ferrand C, Laheurte C, Vauchy C, Gaiffe E, Saas P, Ducloux D, Bamoulid J.

Nephrol Dial Transplant. 2018 Sep 6. doi: 10.1093/ndt/gfy276. [Epub ahead of print]

PMID:
30202981
19.

Experimentally-enhanced perceptions of meaning confer resilience to the interpersonal adversity implicated in suicide risk.

Collins KRL, Legendre MN, Stritzke WGK, Page AC.

J Behav Ther Exp Psychiatry. 2018 Dec;61:142-149. doi: 10.1016/j.jbtep.2018.07.004. Epub 2018 Jul 29.

PMID:
30081255
20.

ESRD-associated immune phenotype depends on dialysis modality and iron status: clinical implications.

Ducloux D, Legendre M, Bamoulid J, Rebibou JM, Saas P, Courivaud C, Crepin T.

Immun Ageing. 2018 Jul 17;15:16. doi: 10.1186/s12979-018-0121-z. eCollection 2018.

21.

Unexpected invasion of miniature inverted-repeat transposable elements in viral genomes.

Zhang HH, Zhou QZ, Wang PL, Xiong XM, Luchetti A, Raoult D, Levasseur A, Santini S, Abergel C, Legendre M, Drezen JM, Béliveau C, Cusson M, Jiang SH, Bao HO, Sun C, Bureau TE, Cheng PF, Han MJ, Zhang Z, Zhang XG, Dai FY.

Mob DNA. 2018 Jun 18;9:19. doi: 10.1186/s13100-018-0125-4. eCollection 2018.

22.

Diversity and evolution of the emerging Pandoraviridae family.

Legendre M, Fabre E, Poirot O, Jeudy S, Lartigue A, Alempic JM, Beucher L, Philippe N, Bertaux L, Christo-Foroux E, Labadie K, Couté Y, Abergel C, Claverie JM.

Nat Commun. 2018 Jun 11;9(1):2285. doi: 10.1038/s41467-018-04698-4.

23.

Reliability of two social cognition tests: The combined stories test and the social knowledge test.

Thibaudeau É, Cellard C, Legendre M, Villeneuve K, Achim AM.

Psychiatry Res. 2018 Apr;262:63-69. doi: 10.1016/j.psychres.2018.01.026. Epub 2018 Jan 12.

PMID:
29407571
24.

Recurrent Intragenic Duplication within the NR5A1 Gene and Severe Proximal Hypospadias.

Peycelon M, Mansour-Hendili L, Hyon C, Collot N, Houang M, Legendre M, Chabaud M, Bouvier MD, Audry G, Amselem S, Siffroi JP.

Sex Dev. 2017;11(5-6):293-297. doi: 10.1159/000485909. Epub 2018 Jan 13.

PMID:
29332064
25.

High Levels of DEK Autoantibodies in Sera of Patients With Polyarticular Juvenile Idiopathic Arthritis and With Early Disease Flares Following Cessation of Anti-Tumor Necrosis Factor Therapy.

Mor-Vaknin N, Rivas M, Legendre M, Mohan S, Yuanfan Y, Mau T, Johnson A, Huang B, Zhao L, Kimura Y, Spalding SJ, Morris PW, Gottlieb BS, Onel K, Olson JC, Edelheit BS, Shishov M, Jung LK, Cassidy EA, Prahalad S, Passo MH, Beukelman T, Mehta J, Giannini EH, Adams BS, Lovell DJ, Markovitz DM.

Arthritis Rheumatol. 2018 Apr;70(4):594-605. doi: 10.1002/art.40404. Epub 2018 Feb 22.

26.

CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays.

Legendre M, Rodriguez-Ballesteros M, Rossi M, Abadie V, Amiel J, Revencu N, Blanchet P, Brioude F, Delrue MA, Doubaj Y, Sefiani A, Francannet C, Holder-Espinasse M, Jouk PS, Julia S, Melki J, Mur S, Naudion S, Fabre-Teste J, Busa T, Stamm S, Lyonnet S, Attie-Bitach T, Kitzis A, Gilbert-Dussardier B, Bilan F.

Eur J Hum Genet. 2018 Feb;26(2):287-292. doi: 10.1038/s41431-017-0007-0. Epub 2017 Dec 18.

27.

Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.

Legendre M, Abadie V, Attié-Bitach T, Philip N, Busa T, Bonneau D, Colin E, Dollfus H, Lacombe D, Toutain A, Blesson S, Julia S, Martin-Coignard D, Geneviève D, Leheup B, Odent S, Jouk PS, Mercier S, Faivre L, Vincent-Delorme C, Francannet C, Naudion S, Mathieu-Dramard M, Delrue MA, Goldenberg A, Héron D, Parent P, Touraine R, Layet V, Sanlaville D, Quélin C, Moutton S, Fradin M, Jacquette A, Sigaudy S, Pinson L, Sarda P, Guerrot AM, Rossi M, Masurel-Paulet A, El Chehadeh S, Piguel X, Rodriguez-Ballesteros M, Ragot S, Lyonnet S, Bilan F, Gilbert-Dussardier B.

Am J Med Genet C Semin Med Genet. 2017 Dec;175(4):417-430. doi: 10.1002/ajmg.c.31591. Epub 2017 Nov 27.

PMID:
29178447
28.

Infertility in an adult cohort with primary ciliary dyskinesia: phenotype-gene association.

Vanaken GJ, Bassinet L, Boon M, Mani R, Honoré I, Papon JF, Cuppens H, Jaspers M, Lorent N, Coste A, Escudier E, Amselem S, Maitre B, Legendre M, Christin-Maitre S.

Eur Respir J. 2017 Nov 9;50(5). pii: 1700314. doi: 10.1183/13993003.00314-2017. Print 2017 Nov. No abstract available. Erratum in: Eur Respir J. 2017 Dec 14;50(6):.

29.

Functional characterization of tektin-1 in motile cilia and evidence for TEKT1 as a new candidate gene for motile ciliopathies.

Ryan R, Failler M, Reilly ML, Garfa-Traore M, Delous M, Filhol E, Reboul T, Bole-Feysot C, Nitschké P, Baudouin V, Amselem S, Escudier E, Legendre M, Benmerah A, Saunier S.

Hum Mol Genet. 2018 Jan 15;27(2):266-282. doi: 10.1093/hmg/ddx396.

PMID:
29121203
30.

Adult neural stem cell fate is determined by thyroid hormone activation of mitochondrial metabolism.

Gothié JD, Sébillot A, Luongo C, Legendre M, Nguyen Van C, Le Blay K, Perret-Jeanneret M, Remaud S, Demeneix BA.

Mol Metab. 2017 Nov;6(11):1551-1561. doi: 10.1016/j.molmet.2017.08.003. Epub 2017 Aug 19.

31.

Noumeavirus replication relies on a transient remote control of the host nucleus.

Fabre E, Jeudy S, Santini S, Legendre M, Trauchessec M, Couté Y, Claverie JM, Abergel C.

Nat Commun. 2017 Apr 21;8:15087. doi: 10.1038/ncomms15087.

32.

X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3.

Olcese C, Patel MP, Shoemark A, Kiviluoto S, Legendre M, Williams HJ, Vaughan CK, Hayward J, Goldenberg A, Emes RD, Munye MM, Dyer L, Cahill T, Bevillard J, Gehrig C, Guipponi M, Chantot S, Duquesnoy P, Thomas L, Jeanson L, Copin B, Tamalet A, Thauvin-Robinet C, Papon JF, Garin A, Pin I, Vera G, Aurora P, Fassad MR, Jenkins L, Boustred C, Cullup T, Dixon M, Onoufriadis A, Bush A, Chung EM, Antonarakis SE, Loebinger MR, Wilson R, Armengot M, Escudier E, Hogg C; UK10K Rare Group, Amselem S, Sun Z, Bartoloni L, Blouin JL, Mitchison HM.

Nat Commun. 2017 Feb 8;8:14279. doi: 10.1038/ncomms14279.

33.

DEK-targeting DNA aptamers as therapeutics for inflammatory arthritis.

Mor-Vaknin N, Saha A, Legendre M, Carmona-Rivera C, Amin MA, Rabquer BJ, Gonzales-Hernandez MJ, Jorns J, Mohan S, Yalavarthi S, Pai DA, Angevine K, Almburg SJ, Knight JS, Adams BS, Koch AE, Fox DA, Engelke DR, Kaplan MJ, Markovitz DM.

Nat Commun. 2017 Feb 6;8:14252. doi: 10.1038/ncomms14252.

34.

European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia.

Lucas JS, Barbato A, Collins SA, Goutaki M, Behan L, Caudri D, Dell S, Eber E, Escudier E, Hirst RA, Hogg C, Jorissen M, Latzin P, Legendre M, Leigh MW, Midulla F, Nielsen KG, Omran H, Papon JF, Pohunek P, Redfern B, Rigau D, Rindlisbacher B, Santamaria F, Shoemark A, Snijders D, Tonia T, Titieni A, Walker WT, Werner C, Bush A, Kuehni CE.

Eur Respir J. 2017 Jan 4;49(1). pii: 1601090. doi: 10.1183/13993003.01090-2016. Print 2017 Jan.

35.

Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated Patients.

Cohen E, Maghnie M, Collot N, Leger J, Dastot F, Polak M, Rose S, Touraine P, Duquesnoy P, Tauber M, Copin B, Bertrand AM, Brioude F, Larizza D, Edouard T, González Briceño L, Netchine I, Oliver-Petit I, Sobrier ML, Amselem S, Legendre M.

J Clin Endocrinol Metab. 2017 Jan 1;102(1):290-301. doi: 10.1210/jc.2016-3158.

PMID:
27820671
36.

Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility.

El Khouri E, Thomas L, Jeanson L, Bequignon E, Vallette B, Duquesnoy P, Montantin G, Copin B, Dastot-Le Moal F, Blanchon S, Papon JF, Lorès P, Yuan L, Collot N, Tissier S, Faucon C, Gacon G, Patrat C, Wolf JP, Dulioust E, Crestani B, Escudier E, Coste A, Legendre M, Touré A, Amselem S.

Am J Hum Genet. 2016 Aug 4;99(2):489-500. doi: 10.1016/j.ajhg.2016.06.022.

37.

Association of structural and numerical anomalies of chromosome 22 in a patient with syndromic intellectual disability.

Naoufal R, Legendre M, Couet D, Gilbert-Dussardier B, Kitzis A, Bilan F, Harbuz R.

Eur J Med Genet. 2016 Sep;59(9):483-7. doi: 10.1016/j.ejmg.2016.07.001. Epub 2016 Jul 21.

PMID:
27452446
38.

Clinicopathologic characteristics, treatment, and outcomes of tubulointerstitial nephritis and uveitis syndrome in adults: A national retrospective strobe-compliant study.

Legendre M, Devilliers H, Perard L, Groh M, Nefti H, Dussol B, Trad S, Touré F, Abad S, Boffa JJ, Frimat L, Torner S, Seidowsky A, Massy ZA, Saadoun D, Rieu V, Schoindre Y, Heron E, Frouget T, Lionet A, Glowacki F, Arnaud L, Mousson C, Besancenot JF, Rebibou JM, Bielefeld P.

Medicine (Baltimore). 2016 Jun;95(26):e3964. doi: 10.1097/MD.0000000000003964.

39.

Adaptations of semen characteristics and sperm motility to harsh salinity: Extreme situations encountered by the euryhaline tilapia Sarotherodon melanotheron heudelotii (Dumeril, 1859).

Legendre M, Alavi SM, Dzyuba B, Linhart O, Prokopchuk G, Cochet C, Dugué R, Cosson J.

Theriogenology. 2016 Sep 15;86(5):1251-67. doi: 10.1016/j.theriogenology.2016.04.066. Epub 2016 Apr 25.

PMID:
27260510
40.

Association of hidradenitis suppurativa and familial Mediterranean fever: A case series of 6 patients.

Abbara S, Georgin-Lavialle S, Stankovic Stojanovic K, Bachmeyer C, Senet P, Buob D, Audia S, Delcey V, Fellahi S, Bastard JP, Awad F, Legendre M, Amselem S, Grateau G.

Joint Bone Spine. 2017 Mar;84(2):159-162. doi: 10.1016/j.jbspin.2016.02.021. Epub 2016 May 26.

PMID:
27238193
41.

Mutations in GAS8, a Gene Encoding a Nexin-Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia with Axonemal Disorganization.

Jeanson L, Thomas L, Copin B, Coste A, Sermet-Gaudelus I, Dastot-Le Moal F, Duquesnoy P, Montantin G, Collot N, Tissier S, Papon JF, Clement A, Louis B, Escudier E, Amselem S, Legendre M.

Hum Mutat. 2016 Aug;37(8):776-85. doi: 10.1002/humu.23005. Epub 2016 May 12.

PMID:
27120127
42.

Prenatal findings in children with early postnatal diagnosis of CHARGE syndrome.

Busa T, Legendre M, Bauge M, Quarello E, Bretelle F, Bilan F, Sigaudy S, Gilbert-Dussardier B, Philip N.

Prenat Diagn. 2016 Jun;36(6):561-7. doi: 10.1002/pd.4825. Epub 2016 May 12.

PMID:
27061523
43.

[Prenatal and clinicopathological study of 6 cases of Pallister-Killian syndrome and review].

Desseauve D, Legendre M, Dugué-Maréchaud M, Vequeau-Goua V, Pierre F.

Gynecol Obstet Fertil. 2016 Apr;44(4):200-6. doi: 10.1016/j.gyobfe.2016.03.002. Epub 2016 Mar 28. Review. French.

PMID:
27032761
44.

Germline SFTPA1 mutation in familial idiopathic interstitial pneumonia and lung cancer.

Nathan N, Giraud V, Picard C, Nunes H, Dastot-Le Moal F, Copin B, Galeron L, De Ligniville A, Kuziner N, Reynaud-Gaubert M, Valeyre D, Couderc LJ, Chinet T, Borie R, Crestani B, Simansour M, Nau V, Tissier S, Duquesnoy P, Mansour-Hendili L, Legendre M, Kannengiesser C, Coulomb-L'Hermine A, Gouya L, Amselem S, Clement A.

Hum Mol Genet. 2016 Apr 15;25(8):1457-67. doi: 10.1093/hmg/ddw014. Epub 2016 Jan 19.

PMID:
26792177
45.

The 474-Kilobase-Pair Complete Genome Sequence of CeV-01B, a Virus Infecting Haptolina (Chrysochromulina) ericina (Prymnesiophyceae).

Gallot-Lavallée L, Pagarete A, Legendre M, Santini S, Sandaa RA, Himmelbauer H, Ogata H, Bratbak G, Claverie JM.

Genome Announc. 2015 Dec 3;3(6). pii: e01413-15. doi: 10.1128/genomeA.01413-15.

46.

The rapidly expanding universe of giant viruses: Mimivirus, Pandoravirus, Pithovirus and Mollivirus.

Abergel C, Legendre M, Claverie JM.

FEMS Microbiol Rev. 2015 Nov;39(6):779-96. doi: 10.1093/femsre/fuv037. Epub 2015 Sep 20. Review.

PMID:
26391910
47.

In-depth study of Mollivirus sibericum, a new 30,000-y-old giant virus infecting Acanthamoeba.

Legendre M, Lartigue A, Bertaux L, Jeudy S, Bartoli J, Lescot M, Alempic JM, Ramus C, Bruley C, Labadie K, Shmakova L, Rivkina E, Couté Y, Abergel C, Claverie JM.

Proc Natl Acad Sci U S A. 2015 Sep 22;112(38):E5327-35. doi: 10.1073/pnas.1510795112. Epub 2015 Sep 8.

48.

Variable Glutamine-Rich Repeats Modulate Transcription Factor Activity.

Gemayel R, Chavali S, Pougach K, Legendre M, Zhu B, Boeynaems S, van der Zande E, Gevaert K, Rousseau F, Schymkowitz J, Babu MM, Verstrepen KJ.

Mol Cell. 2015 Aug 20;59(4):615-27. doi: 10.1016/j.molcel.2015.07.003. Epub 2015 Aug 6.

49.

Syndrome diagnosis with single-nucleotide polymorphism (SNP) microarray.

Edwards M, Brescianini S, Allgood C, Freelander M, Dunstan R, Patradoon-Ho P, Chin R, Morgan L, Pervez T, Legendre M, Burgess T, Amselem S, Whitehall J.

J Paediatr Child Health. 2016 Jan;52(1):85-9. doi: 10.1111/jpc.12981. Epub 2015 Jul 30. No abstract available.

PMID:
26228624
50.

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.

Alby C, Piquand K, Huber C, Megarbané A, Ichkou A, Legendre M, Pelluard F, Encha-Ravazi F, Abi-Tayeh G, Bessières B, El Chehadeh-Djebbar S, 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.

Am J Hum Genet. 2015 Aug 6;97(2):311-8. doi: 10.1016/j.ajhg.2015.06.003. Epub 2015 Jul 9.

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