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Items: 1 to 20 of 367

1.

Dermatological manifestations in Noonan syndrome: A prospective multicentric study of 129 mutation-positive patients.

Bessis D, Miquel J, Bourrat E, Chiaverini C, Morice-Picard F, Abadie C, Manna F, Baumann C, Best M, Blanchet P, Bursztejn AC, Capri Y, Coubes C, Giuliano F, Guillaumont S, Hadj-Rabia S, Jacquemont ML, Jeandel C, Lacombe D, Mallet S, Mazereeuw-Hautier J, Molinari N, Pallure V, Pernet C, Philip N, Pinson L, Sarda P, Sigaudy S, Vial Y, Willems M, Geneviève D, Verloes A, Cavé H.

Br J Dermatol. 2018 Nov 12. doi: 10.1111/bjd.17404. [Epub ahead of print]

PMID:
30417923
2.

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.

PMID:
30388402
3.

Mutational Profile of Aggressive, Localised Prostate Cancer from African Caribbean Men Versus European Ancestry Men.

Tonon L, Fromont G, Boyault S, Thomas E, Ferrari A, Sertier AS, Kielbassa J, Le Texier V, Kamoun A, Elarouci N, Irani J, Multigner L, Gut IG, Gut M, Blanchet P, De Reynies A, Cancel-Tassin G, Viari A, Cussenot O.

Eur Urol. 2019 Jan;75(1):11-15. doi: 10.1016/j.eururo.2018.08.026. Epub 2018 Sep 21.

PMID:
30245085
4.

[Pelvimetrics measures as predictives factors of positives surgical margins after robot-assisted laparoscopic prostatectomy].

Moureaux C, Boucaud-Maitre D, Brureau L, Gourtaud G, Senechal C, Roux V, Blanchet P, Eyraud R.

Prog Urol. 2018 Dec;28(16):906-914. doi: 10.1016/j.purol.2018.08.003. Epub 2018 Sep 13. French.

PMID:
30219645
5.

Electrophysiological predictors of cognitive-behavioral therapy outcome in tic disorders.

Morand-Beaulieu S, O'Connor KP, Blanchet PJ, Lavoie ME.

J Psychiatr Res. 2018 Oct;105:113-122. doi: 10.1016/j.jpsychires.2018.08.020. Epub 2018 Sep 4.

PMID:
30219560
6.

Preparation and characterisation of flame retardant encapsulated with functionalised silica-based shell.

Hoang DT, Schorr D, Landry V, Blanchet P, Vanslambrouck S, Dagenais C.

J Microencapsul. 2018 Oct 23:1-11. doi: 10.1080/02652048.2018.1521477. [Epub ahead of print]

PMID:
30189763
7.

A Rare Location and Presentation of Pheochromocytoma.

Kaulanjan K, Blanchet P, Brureau L.

J Endourol Case Rep. 2018 Jul 1;4(1):111-113. doi: 10.1089/cren.2018.0025. eCollection 2018.

8.

Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia.

Michot C, Le Goff C, Blair E, Blanchet P, Capri Y, Gilbert-Dussardier B, Goldenberg A, Henderson A, Isidor B, Kayserili H, Kinning E, Le Merrer M, Lyonnet S, Odent S, Simsek-Kiper PO, Quelin C, Savarirayan R, Simon M, Splitt M, Verhagen JMA, Verloes A, Munnich A, Baujat G, Cormier-Daire V.

Eur J Hum Genet. 2018 Nov;26(11):1611-1622. doi: 10.1038/s41431-018-0135-1. Epub 2018 Jul 13.

PMID:
30006632
9.

Comprehensive molecular classification of localized prostate adenocarcinoma reveals a tumour subtype predictive of non-aggressive disease.

Kamoun A, Cancel-Tassin G, Fromont G, Elarouci N, Armenoult L, Ayadi M, Irani J, Leroy X, Villers A, Fournier G, Doucet L, Boyault S, Brureau L, Multigner L, Diedhiou A, Roupret M, Compérat E, Blanchet P, de Reyniès A, Cussenot O.

Ann Oncol. 2018 Aug 1;29(8):1814-1821. doi: 10.1093/annonc/mdy224.

10.

Cardinal Motor Features of Parkinson's Disease Coexist with Peak-Dose Choreic-Type Drug-Induced Dyskinesia.

Goubault E, Nguyen HP, Bogard S, Blanchet PJ, Bézard E, Vincent C, Langlois M, Duval C.

J Parkinsons Dis. 2018;8(2):323-331. doi: 10.3233/JPD-181312.

11.

Predictors of biochemical recurrence after radical prostatectomy in an Afro-Caribbean population in Guadeloupe (French West Indies).

Brureau L, Emeville E, Multigner L, Blanchet P.

Prog Urol. 2018 Jun;28(8-9):442-449. doi: 10.1016/j.purol.2018.03.015. Epub 2018 May 20.

PMID:
29789237
12.

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.

J Med Genet. 2018 Jun;55(6):422-429. doi: 10.1136/jmedgenet-2017-104939. Epub 2018 Feb 19.

PMID:
29459493
13.

Fatty acid profile in peri-prostatic adipose tissue and prostate cancer aggressiveness in African-Caribbean and Caucasian patients.

Figiel S, Pinault M, Domingo I, Guimaraes C, Guibon R, Besson P, Tavernier E, Blanchet P, Multigner L, Bruyère F, Haillot O, Mathieu R, Vincendeau S, Rioux-Leclercq N, Lebdai S, Azzouzi AR, Perrouin-Verbe MA, Fournier G, Doucet L, Rigaud J, Renaudin K, Mahéo K, Fromont G.

Eur J Cancer. 2018 Mar;91:107-115. doi: 10.1016/j.ejca.2017.12.017.

PMID:
29413967
14.

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.

PMID:
29255276
15.

[Epidemiology of urolithiasis in French West Indies: A retrospective study].

Kaulanjan K, Cerruti A, Galantine V, Laine C, Rose Dite Modestine J, Gourtaud G, Senechal C, Roux V, Eyraud R, Blanchet P, Brureau L.

Prog Urol. 2018 Feb;28(2):114-119. doi: 10.1016/j.purol.2017.10.005. Epub 2017 Nov 20. French.

PMID:
29162379
16.

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.

Am J Med Genet A. 2017 Dec;173(12):3136-3142. doi: 10.1002/ajmg.a.38490. Review.

PMID:
29136349
17.

Two Novel Susceptibility Loci for Prostate Cancer in Men of African Ancestry.

Conti DV, Wang K, Sheng X, Bensen JT, Hazelett DJ, Cook MB, Ingles SA, Kittles RA, Strom SS, Rybicki BA, Nemesure B, Isaacs WB, Stanford JL, Zheng W, Sanderson M, John EM, Park JY, Xu J, Stevens VL, Berndt SI, Huff CD, Wang Z, Yeboah ED, Tettey Y, Biritwum RB, Adjei AA, Tay E, Truelove A, Niwa S, Sellers TA, Yamoah K, Murphy AB, Crawford DC, Gapstur SM, Bush WS, Aldrich MC, Cussenot O, Petrovics G, Cullen J, Neslund-Dudas C, Stern MC, Jarai ZK, Govindasami K, Chokkalingam AP, Hsing AW, Goodman PJ, Hoffmann T, Drake BF, Hu JJ, Clark PE, Van Den Eeden SK, Blanchet P, Fowke JH, Casey G, Hennis AJM, Han Y, Lubwama A, Thompson IM Jr, Leach R, Easton DF, Schumacher F, Van den Berg DJ, Gundell SM, Stram A, Wan P, Xia L, Pooler LC, Mohler JL, Fontham ETH, Smith GJ, Taylor JA, Srivastava S, Eeles RA, Carpten J, Kibel AS, Multigner L, Parent ME, Menegaux F, Cancel-Tassin G, Klein EA, Brureau L, Stram DO, Watya S, Chanock SJ, Witte JS, Blot WJ, Henderson BE, Haiman CA; PRACTICAL/ELLIPSE Consortium.

J Natl Cancer Inst. 2017 Aug 1;109(8). doi: 10.1093/jnci/djx084.

18.

Chronic pain and pain processing in Parkinson's disease.

Blanchet PJ, Brefel-Courbon C.

Prog Neuropsychopharmacol Biol Psychiatry. 2018 Dec 20;87(Pt B):200-206. doi: 10.1016/j.pnpbp.2017.10.010. Epub 2017 Oct 12. Review.

PMID:
29031913
19.

Prostate cancer clinical presentation, incidence, mortality and survival in Guadeloupe over the period 2008-2013 from a population-based cancer registry.

Deloumeaux J, Bhakkan B, Eyraud R, Braud F, Manip M'Ebobisse N, Blanchet P, Brureau L.

Cancer Causes Control. 2017 Nov;28(11):1265-1273. doi: 10.1007/s10552-017-0962-3. Epub 2017 Sep 18.

PMID:
28921374
20.

MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus.

Blanchet P, Bebin M, Bruet S, Cooper GM, Thompson ML, Duban-Bedu B, Gerard B, Piton A, Suckno S, Deshpande C, Clowes V, Vogt J, Turnpenny P, Williamson MP, Alembik Y; Clinical Sequencing Exploratory Research Study Consortium; Deciphering Developmental Disorders Consortium, Glasgow E, McNeill A.

PLoS Genet. 2017 Aug 31;13(8):e1006957. doi: 10.1371/journal.pgen.1006957. eCollection 2017 Aug.

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