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Items: 1 to 50 of 215

1.

NLRP3-associated autoinflammatory diseases: phenotypic and molecular characteristics of germline versus somatic mutations.

Louvrier C, Assrawi E, El Khouri E, Melki I, Copin B, Bourrat E, Lachaume N, Cador-Rousseau B, Duquesnoy P, Piterboth W, Awad F, Jumeau C, Legendre M, Grateau G, Georgin-Lavialle S, Karabina SA, Amselem S, Giurgea I.

J Allergy Clin Immunol. 2019 Dec 6. pii: S0091-6749(19)31628-8. doi: 10.1016/j.jaci.2019.11.035. [Epub ahead of print]

PMID:
31816408
2.

Pilot experience of multidisciplinary team discussion dedicated to inherited pulmonary fibrosis.

Borie R, Kannengiesser C, Gouya L, Dupin C, Amselem S, Ba I, Bunel V, Bonniaud P, Bouvry D, Cazes A, Clement A, Debray MP, Dieude P, Epaud R, Fanen P, Lainey E, Legendre M, Plessier A, Sicre de Fontbrune F, Wemeau-Stervinou L, Cottin V, Nathan N, Crestani B.

Orphanet J Rare Dis. 2019 Dec 3;14(1):280. doi: 10.1186/s13023-019-1256-5.

3.

The NLRP3 p.A441V Mutation in NLRP3-AID Pathogenesis: Functional Consequences, Phenotype-Genotype Correlations and Evidence for a Recurrent Mutational Event.

Awad F, Assrawi E, Jumeau C, Odent S, Despert V, Cam G, Perdriger A, Louvrier C, Cobret L, Copin B, Chantot-Bastaraud S, Duquesnoy P, Piterboth W, Le Jeunne C, Quenum-Miraillet G, Siffroi JP, Georgin-Lavialle S, Grateau G, Legendre M, Giurgea I, Karabina SA, Amselem S.

ACR Open Rheumatol. 2019 Jun 6;1(4):267-276. doi: 10.1002/acr2.1039. eCollection 2019 Jun.

4.

Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia.

Blanchon S, Legendre M, Bottier M, Tamalet A, Montantin G, Collot N, Faucon C, Dastot F, Copin B, Clement A, Filoche M, Coste A, Amselem S, Escudier E, Papon JF, Louis B.

J Med Genet. 2019 Nov 26. pii: jmedgenet-2019-106424. doi: 10.1136/jmedgenet-2019-106424. [Epub ahead of print]

PMID:
31772028
5.

Remote Controlled Autonomous Microgravity Lab Platforms for Drug Research in Space.

Amselem S.

Pharm Res. 2019 Nov 18;36(12):183. doi: 10.1007/s11095-019-2703-7. Review.

PMID:
31741058
6.

Use of ruxolitinib in COPA syndrome manifesting as life-threatening alveolar haemorrhage.

Frémond ML, Legendre M, Fayon M, Clement A, Filhol-Blin E, Richard N, Berdah L, Roullaud S, Rice GI, Bondet V, Duffy D, Sileo C, Ducou le Pointe H, Begueret H, Coulomb A, Neven B, Amselem S, Crow Y, Nathan N.

Thorax. 2019 Oct 30. pii: thoraxjnl-2019-213892. doi: 10.1136/thoraxjnl-2019-213892. [Epub ahead of print]

PMID:
31666386
7.

Somatic mosaic NLRP3 mutations and inflammasome activation in late-onset chronic urticaria.

Assrawi E, Louvrier C, Lepelletier C, Georgin-Lavialle S, Bouaziz JD, Awad F, Moinet F, Moguelet P, Vignon-Pennamen MD, Piterboth W, Jumeau C, Cobret L, ElKhouri E, Copin B, Duquesnoy P, Legendre M, Grateau G, Karabina SA, Amselem S, Giurgea I.

J Invest Dermatol. 2019 Sep 9. pii: S0022-202X(19)33216-6. doi: 10.1016/j.jid.2019.06.153. [Epub ahead of print]

PMID:
31513803
8.

Primary ciliary dyskinesia gene contribution in Tunisia: Identification of a major Mediterranean allele.

Mani R, Belkacem S, Soua Z, Chantot S, Montantin G, Tissier S, Copin B, Bouguila J, Rive Le Gouard N, Boughamoura L, Ben Ameur S, Hachicha M, Boussoffara R, Boussetta K, Hammouda S, Bedoui A, Besbes H, Meddeb S, Chraeit K, Khlifa M, Escudier E, Amselem S, Mabrouk I, Legendre M.

Hum Mutat. 2019 Aug 30. doi: 10.1002/humu.23905. [Epub ahead of print]

PMID:
31469207
9.

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.

10.

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.

11.

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 Nov;40(11):2033-2043. doi: 10.1002/humu.23847. Epub 2019 Aug 6.

PMID:
31231873
12.

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
13.

Expression of SAA1, SAA2 and SAA4 genes in human primary monocytes and monocyte-derived macrophages.

Jumeau C, Awad F, Assrawi E, Cobret L, Duquesnoy P, Giurgea I, Valeyre D, Grateau G, Amselem S, Bernaudin JF, Karabina SA.

PLoS One. 2019 May 17;14(5):e0217005. doi: 10.1371/journal.pone.0217005. eCollection 2019.

14.

Monoclonal Gammopathy, Arthralgias, and Recurrent Fever Syndrome: A New Autoinflammatory Syndrome?

Terré A, Talbot A, Louvrier C, Picque JB, Mahévas M, Boutboul D, Amselem S, Giurgea I, Grateau G, Georgin-Lavialle S; French Network of Dysimmune Disorders Associated with Hemopathies.

J Rheumatol. 2019 Nov;46(11):1535-1539. doi: 10.3899/jrheum.181204. Epub 2019 Mar 15.

PMID:
30877203
15.

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.

16.

Proteasomal degradation of NOD2 by NLRP12 in monocytes promotes bacterial tolerance and colonization by enteropathogens.

Normand S, Waldschmitt N, Neerincx A, Martinez-Torres RJ, Chauvin C, Couturier-Maillard A, Boulard O, Cobret L, Awad F, Huot L, Ribeiro-Ribeiro A, Lautz K, Ruez R, Delacre M, Bondu C, Guilliams M, Scott C, Segal A, Amselem S, Hot D, Karabina S, Bohn E, Ryffel B, Poulin LF, Kufer TA, Chamaillard M.

Nat Commun. 2018 Dec 17;9(1):5338. doi: 10.1038/s41467-018-07750-5.

17.

Corrigendum: Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesia.

Lorès P, Coutton C, Khouri EE, Stouvenel L, Givelet M, Thomas L, Rode B, Schmitt A, Louis B, Sakheli Z, Chaudhry M, Fernandez-Gonzales A, Mitsialis A, Dacheux D, Wolf JP, Papon JF, Gacon G, Escudier E, Arnoult C, Bonhivers M, Savinov SN, Amselem S, Ray PF, Dulioust E, Touré A.

Hum Mol Genet. 2019 Mar 15;28(6):1052. doi: 10.1093/hmg/ddy368. No abstract available.

PMID:
30517620
18.

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.

19.

MUC5B Promoter Variant and Rheumatoid Arthritis with Interstitial Lung Disease.

Juge PA, Lee JS, Ebstein E, Furukawa H, Dobrinskikh E, Gazal S, Kannengiesser C, Ottaviani S, Oka S, Tohma S, Tsuchiya N, Rojas-Serrano J, González-Pérez MI, Mejía M, Buendía-Roldán I, Falfán-Valencia R, Ambrocio-Ortiz E, Manali E, Papiris SA, Karageorgas T, Boumpas D, Antoniou K, van Moorsel CHM, van der Vis J, de Man YA, Grutters JC, Wang Y, Borie R, Wemeau-Stervinou L, Wallaert B, Flipo RM, Nunes H, Valeyre D, Saidenberg-Kermanac'h N, Boissier MC, Marchand-Adam S, Frazier A, Richette P, Allanore Y, Sibilia J, Dromer C, Richez C, Schaeverbeke T, Lioté H, Thabut G, Nathan N, Amselem S, Soubrier M, Cottin V, Clément A, Deane K, Walts AD, Fingerlin T, Fischer A, Ryu JH, Matteson EL, Niewold TB, Assayag D, Gross A, Wolters P, Schwarz MI, Holers M, Solomon JJ, Doyle T, Rosas IO, Blauwendraat C, Nalls MA, Debray MP, Boileau C, Crestani B, Schwartz DA, Dieudé P.

N Engl J Med. 2018 Dec 6;379(23):2209-2219. doi: 10.1056/NEJMoa1801562. Epub 2018 Oct 20.

20.

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.

21.

Clinical and multi-omics cross-phenotyping of patients with autoimmune and autoinflammatory diseases: the observational TRANSIMMUNOM protocol.

Lorenzon R, Mariotti-Ferrandiz E, Aheng C, Ribet C, Toumi F, Pitoiset F, Chaara W, Derian N, Johanet C, Drakos I, Harris S, Amselem S, Berenbaum F, Benveniste O, Bodaghi B, Cacoub P, Grateau G, Amouyal C, Hartemann A, Saadoun D, Sellam J, Seksik P, Sokol H, Salem JE, Vicaut E, Six A, Rosenzwajg M, Bernard C, Klatzmann D.

BMJ Open. 2018 Aug 30;8(8):e021037. doi: 10.1136/bmjopen-2017-021037.

22.

Photoaging and skin cancer: Is the inflammasome the missing link?

Awad F, Assrawi E, Louvrier C, Jumeau C, Giurgea I, Amselem S, Karabina SA.

Mech Ageing Dev. 2018 Jun;172:131-137. doi: 10.1016/j.mad.2018.03.003. Epub 2018 Mar 12. Review.

PMID:
29545203
23.

Inflammasome biology, molecular pathology and therapeutic implications.

Awad F, Assrawi E, Louvrier C, Jumeau C, Georgin-Lavialle S, Grateau G, Amselem S, Giurgea I, Karabina SA.

Pharmacol Ther. 2018 Jul;187:133-149. doi: 10.1016/j.pharmthera.2018.02.011. Epub 2018 Feb 18. Review.

PMID:
29466702
24.

Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesia.

Lorès P, Coutton C, El Khouri E, Stouvenel L, Givelet M, Thomas L, Rode B, Schmitt A, Louis B, Sakheli Z, Chaudhry M, Fernandez-Gonzales A, Mitsialis A, Dacheux D, Wolf JP, Papon JF, Gacon G, Escudier E, Arnoult C, Bonhivers M, Savinov SN, Amselem S, Ray PF, Dulioust E, Touré A.

Hum Mol Genet. 2018 Apr 1;27(7):1196-1211. doi: 10.1093/hmg/ddy034.

PMID:
29365104
25.

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
26.

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):.

27.

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
28.

Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis.

Juge PA, Borie R, Kannengiesser C, Gazal S, Revy P, Wemeau-Stervinou L, Debray MP, Ottaviani S, Marchand-Adam S, Nathan N, Thabut G, Richez C, Nunes H, Callebaut I, Justet A, Leulliot N, Bonnefond A, Salgado D, Richette P, Desvignes JP, Lioté H, Froguel P, Allanore Y, Sand O, Dromer C, Flipo RM, Clément A, Béroud C, Sibilia J, Coustet B, Cottin V, Boissier MC, Wallaert B, Schaeverbeke T, Dastot le Moal F, Frazier A, Ménard C, Soubrier M, Saidenberg N, Valeyre D, Amselem S; FREX consortium, Boileau C, Crestani B, Dieudé P.

Eur Respir J. 2017 May 11;49(5). pii: 1602314. doi: 10.1183/13993003.02314-2016. Print 2017 May.

29.

Impact of human monocyte and macrophage polarization on NLR expression and NLRP3 inflammasome activation.

Awad F, Assrawi E, Jumeau C, Georgin-Lavialle S, Cobret L, Duquesnoy P, Piterboth W, Thomas L, Stankovic-Stojanovic K, Louvrier C, Giurgea I, Grateau G, Amselem S, Karabina SA.

PLoS One. 2017 Apr 12;12(4):e0175336. doi: 10.1371/journal.pone.0175336. eCollection 2017.

30.

AA amyloidosis is an emerging cause of nephropathy in obese patients.

Stankovic Stojanovic K, Georgin-Lavialle S, Poitou C, Buob D, Amselem S, Grateau G; AMYLOB Study Group.

Eur J Intern Med. 2017 Apr;39:e18-e20. doi: 10.1016/j.ejim.2017.02.004. Epub 2017 Feb 14. No abstract available.

PMID:
28214252
31.

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.

32.

Concordance between CRP and SAA in familial Mediterranean fever during attack-free period: A study of 218 patients.

Stankovic Stojanovic K, Hentgen V, Fellahi S, Georgin-Lavialle S, Amselem S, Grateau G, Bastard JP, Steichen O.

Clin Biochem. 2017 Mar;50(4-5):206-209. doi: 10.1016/j.clinbiochem.2016.11.008. Epub 2016 Nov 10.

PMID:
27838405
33.

Surfactant protein A: A key player in lung homeostasis.

Nathan N, Taytard J, Duquesnoy P, Thouvenin G, Corvol H, Amselem S, Clement A.

Int J Biochem Cell Biol. 2016 Dec;81(Pt A):151-155. doi: 10.1016/j.biocel.2016.11.003. Epub 2016 Nov 9. Review.

PMID:
27836807
34.

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
35.

Spondyloarthritis associated with familial Mediterranean fever: successful treatment with anakinra.

Georgin-Lavialle S, Stankovic Stojanovic K, Bachmeyer C, Sellam J, Abbara S, Awad F, Miquel A, Amselem S, Grateau G, M'Bappé P.

Rheumatology (Oxford). 2017 Jan;56(1):167-169. doi: 10.1093/rheumatology/kew290. Epub 2016 Aug 29. No abstract available.

PMID:
27576367
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 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
38.

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
39.

Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation.

Masters SL, Lagou V, Jéru I, Baker PJ, Van Eyck L, Parry DA, Lawless D, De Nardo D, Garcia-Perez JE, Dagley LF, Holley CL, Dooley J, Moghaddas F, Pasciuto E, Jeandel PY, Sciot R, Lyras D, Webb AI, Nicholson SE, De Somer L, van Nieuwenhove E, Ruuth-Praz J, Copin B, Cochet E, Medlej-Hashim M, Megarbane A, Schroder K, Savic S, Goris A, Amselem S, Wouters C, Liston A.

Sci Transl Med. 2016 Mar 30;8(332):332ra45. doi: 10.1126/scitranslmed.aaf1471.

40.

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
41.

Functional characterization of a human POU1F1 mutation associated with isolated growth hormone deficiency: a novel etiology for IGHD.

Sobrier ML, Tsai YC, Pérez C, Leheup B, Bouceba T, Duquesnoy P, Copin B, Sizova D, Penzo A, Stanger BZ, Cooke NE, Liebhaber SA, Amselem S.

Hum Mol Genet. 2016 Feb 1;25(3):472-83. doi: 10.1093/hmg/ddv486. Epub 2015 Nov 26.

42.

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
43.

Chronic myelomonocytic leukemia as a cause of fatal uncontrolled inflammation in familial Mediterranean fever.

Awad F, Georgin-Lavialle S, Brignier A, Derrieux C, Aouba A, Stankovic-Stojanovic K, Grateau G, Amselem S, Hermine O, Karabina SA.

Orphanet J Rare Dis. 2015 Jun 16;10:76. doi: 10.1186/s13023-015-0295-9.

44.

RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes.

Jeanson L, Copin B, Papon JF, Dastot-Le Moal F, Duquesnoy P, Montantin G, Cadranel J, Corvol H, Coste A, Désir J, Souayah A, Kott E, Collot N, Tissier S, Louis B, Tamalet A, de Blic J, Clement A, Escudier E, Amselem S, Legendre M.

Am J Hum Genet. 2015 Jul 2;97(1):153-62. doi: 10.1016/j.ajhg.2015.05.004. Epub 2015 Jun 11.

45.

[Chronic cutaneous lesions in a 73-year-old patient].

Abbara S, Bachmeyer C, Stankovic Stojanovic K, Amselem S, Grateau G, Georgin-Lavialle S, Couturier B, Cogan E.

Rev Med Interne. 2015 Sep;36(9):631-3. doi: 10.1016/j.revmed.2015.05.007. Epub 2015 Jun 4. French. No abstract available.

PMID:
26051190
46.

Biomarkers in Interstitial lung diseases.

Nathan N, Corvol H, Amselem S, Clement A.

Paediatr Respir Rev. 2015 Sep;16(4):219-24. doi: 10.1016/j.prrv.2015.05.002. Epub 2015 May 12. Review.

PMID:
26027849
47.

The c.301_302delAG PROP1 gene mutation in Romanian patients with multiple pituitary hormone deficiency.

Lazea C, Grigorescu-Sido P, Popp R, Legendre M, Amselem S, Al-Khzouz C, Bucerzan S, Creţ V, Crişan M, Brad C.

J Pediatr Endocrinol Metab. 2015 Sep;28(9-10):993-8. doi: 10.1515/jpem-2014-0289.

PMID:
25581745
48.

Molecular screening of a large cohort of Moroccan patients with congenital hypopituitarism.

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