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Items: 33

1.

Fetal phenotype of Rubinstein-Taybi syndrome caused by CREBBP mutations.

Van-Gils J, Naudion S, Toutain J, Lancelot G, Attié-Bitach T, Blesson S, Demeer B, Doray B, Gonzales M, Martinovic J, Whalen S, Taine L, Arveiler B, Lacombe D, Fergelot P.

Clin Genet. 2019 Jan 11. doi: 10.1111/cge.13493. [Epub ahead of print]

PMID:
30633342
2.

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.

Pizzo L, Jensen M, Polyak A, Rosenfeld JA, Mannik K, Krishnan A, McCready E, Pichon O, Le Caignec C, Van Dijck A, Pope K, Voorhoeve E, Yoon J, Stankiewicz P, Cheung SW, Pazuchanics D, Huber E, Kumar V, Kember RL, Mari F, Curró A, Castiglia L, Galesi O, Avola E, Mattina T, Fichera M, Mandarà L, Vincent M, Nizon M, Mercier S, Bénéteau C, Blesson S, Martin-Coignard D, Mosca-Boidron AL, Caberg JH, Bucan M, Zeesman S, Nowaczyk MJM, Lefebvre M, Faivre L, Callier P, Skinner C, Keren B, Perrine C, Prontera P, Marle N, Renieri A, Reymond A, Kooy RF, Isidor B, Schwartz C, Romano C, Sistermans E, Amor DJ, Andrieux J, Girirajan S.

Genet Med. 2018 Sep 7. doi: 10.1038/s41436-018-0266-3. [Epub ahead of print]

PMID:
30190612
3.

Recent Development of Visceral Leishmaniasis Treatments: Successes, Pitfalls, and Perspectives.

Alves F, Bilbe G, Blesson S, Goyal V, Monnerat S, Mowbray C, Muthoni Ouattara G, Pécoul B, Rijal S, Rode J, Solomos A, Strub-Wourgaft N, Wasunna M, Wells S, Zijlstra EE, Arana B, Alvar J.

Clin Microbiol Rev. 2018 Aug 29;31(4). pii: e00048-18. doi: 10.1128/CMR.00048-18. Print 2018 Oct. Review.

PMID:
30158301
4.

A novel mutation in the transmembrane 6 domain of GABBR2 leads to a Rett-like phenotype.

Vuillaume ML, Jeanne M, Xue L, Blesson S, Denommé-Pichon AS, Alirol S, Brulard C, Colin E, Isidor B, Gilbert-Dussardier B, Odent S, Parent P, Donnart A, Redon R, Bézieau S, Rondard P, Laumonnier F, Toutain A.

Ann Neurol. 2018 Feb;83(2):437-439. doi: 10.1002/ana.25155. Epub 2018 Feb 7. No abstract available.

5.

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
6.

Oral fexinidazole for late-stage African Trypanosoma brucei gambiense trypanosomiasis: a pivotal multicentre, randomised, non-inferiority trial.

Mesu VKBK, Kalonji WM, Bardonneau C, Mordt OV, Blesson S, Simon F, Delhomme S, Bernhard S, Kuziena W, Lubaki JF, Vuvu SL, Ngima PN, Mbembo HM, Ilunga M, Bonama AK, Heradi JA, Solomo JLL, Mandula G, Badibabi LK, Dama FR, Lukula PK, Tete DN, Lumbala C, Scherrer B, Strub-Wourgaft N, Tarral A.

Lancet. 2018 Jan 13;391(10116):144-154. doi: 10.1016/S0140-6736(17)32758-7. Epub 2017 Nov 4. Erratum in: Lancet. 2018 Jan 13;391(10116):124.

PMID:
29113731
7.

Fraser syndrome: features suggestive of prenatal diagnosis in a review of 38 cases.

Tessier A, Sarreau M, Pelluard F, André G, Blesson S, Bucourt M, Dechelotte P, Faivre L, Frébourg T, Goldenberg A, Goua V, Jeanne-Pasquier C, Guimiot F, Laquerriere A, Laurent N, Lefebvre M, Loget P, Maréchaud M, Mechler C, Perez MJ, Sabourin JC, Verloes A, Patrier S, Guerrot AM.

Prenat Diagn. 2016 Dec;36(13):1270-1275. doi: 10.1002/pd.4971. Epub 2016 Dec 9. Review.

PMID:
27859469
8.

A DBS method for quantitation of the new oral trypanocidal drug fexinidazole and its active metabolites.

Filali-Ansary A, Augé C, Abgrall A, Souchaud M, Pellissier F, Mordt OV, Blesson S, Sanderink GJ.

Bioanalysis. 2016 Oct;8(19):2045-63. doi: 10.4155/bio-2016-0110. Epub 2016 Sep 9.

PMID:
27611920
9.

Fetal anomalies associated with HNF1B mutations: report of 20 autopsy cases.

Duval H, Michel-Calemard L, Gonzales M, Loget P, Beneteau C, Buenerd A, Joubert M, Denis-Musquer M, Clemenson A, Chesnais AL, Blesson S, De Pinieux I, Delezoide AL, Bonyhay G, Bellanné-Chantelot C, Heidet L, Dupré F, Collardeau-Frachon S.

Prenat Diagn. 2016 Aug;36(8):744-51. doi: 10.1002/pd.4858. Epub 2016 Jul 6.

10.

Validation and Clinical Evaluation of a Novel Method To Measure Miltefosine in Leishmaniasis Patients Using Dried Blood Spot Sample Collection.

Kip AE, Rosing H, Hillebrand MJ, Blesson S, Mengesha B, Diro E, Hailu A, Schellens JH, Beijnen JH, Dorlo TP.

Antimicrob Agents Chemother. 2016 Mar 25;60(4):2081-9. doi: 10.1128/AAC.02976-15. Print 2016 Apr.

11.

Compliance with infection control practices in sputum microscopy centres: a study from Kerala, India.

Aslesh OP, Ubaid NP, Nagaraja SB, Shewade HD, Padmanabhan KV, Naik BR, Satpati M, Blesson S, Jayasree AK.

Public Health Action. 2015 Dec 21;5(4):255-60. doi: 10.5588/pha.15.0053.

12.

A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome.

Nizon M, Henry M, Michot C, Baumann C, Bazin A, Bessières B, Blesson S, Cordier-Alex MP, David A, Delahaye-Duriez A, Delezoïde AL, Dieux-Coeslier A, Doco-Fenzy M, Faivre L, Goldenberg A, Layet V, Loget P, Marlin S, Martinovic J, Odent S, Pasquier L, Plessis G, Prieur F, Putoux A, Rio M, Testard H, Bonnefont JP, Cormier-Daire V.

Clin Genet. 2016 May;89(5):584-9. doi: 10.1111/cge.12720. Epub 2016 Feb 3.

13.

Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey.

Lefebvre M, Sanlaville D, Marle N, Thauvin-Robinet C, Gautier E, Chehadeh SE, Mosca-Boidron AL, Thevenon J, Edery P, Alex-Cordier MP, Till M, Lyonnet S, Cormier-Daire V, Amiel J, Philippe A, Romana S, Malan V, Afenjar A, Marlin S, Chantot-Bastaraud S, Bitoun P, Heron B, Piparas E, Morice-Picard F, Moutton S, Chassaing N, Vigouroux-Castera A, Lespinasse J, Manouvrier-Hanu S, Boute-Benejean O, Vincent-Delorme C, Petit F, Meur NL, Marti-Dramard M, Guerrot AM, Goldenberg A, Redon S, Ferrec C, Odent S, Caignec CL, Mercier S, Gilbert-Dussardier B, Toutain A, Arpin S, Blesson S, Mortemousque I, Schaefer E, Martin D, Philip N, Sigaudy S, Busa T, Missirian C, Giuliano F, Benailly HK, Kien PK, Leheup B, Benneteau C, Lambert L, Caumes R, Kuentz P, François I, Heron D, Keren B, Cretin E, Callier P, Julia S, Faivre L.

Clin Genet. 2016 May;89(5):630-5. doi: 10.1111/cge.12696. Epub 2016 Jan 4.

14.

Fetal phenotypes in otopalatodigital spectrum disorders.

Naudion S, Moutton S, Coupry I, Sole G, Deforges J, Guerineau E, Hubert C, Deves S, Pilliod J, Rooryck C, Abel C, Le Breton F, Collardeau-Frachon S, Cordier MP, Delezoide AL, Goldenberg A, Loget P, Melki J, Odent S, Patrier S, Verloes A, Viot G, Blesson S, Bessières B, Lacombe D, Arveiler B, Goizet C, Fergelot P.

Clin Genet. 2016 Mar;89(3):371-7. doi: 10.1111/cge.12679. Epub 2015 Oct 29.

PMID:
26404489
15.

Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization.

Brioude F, Netchine I, Praz F, Le Jule M, Calmel C, Lacombe D, Edery P, Catala M, Odent S, Isidor B, Lyonnet S, Sigaudy S, Leheup B, Audebert-Bellanger S, Burglen L, Giuliano F, Alessandri JL, Cormier-Daire V, Laffargue F, Blesson S, Coupier I, Lespinasse J, Blanchet P, Boute O, Baumann C, Polak M, Doray B, Verloes A, Viot G, Le Bouc Y, Rossignol S.

Hum Mutat. 2015 Sep;36(9):894-902. doi: 10.1002/humu.22824. Epub 2015 Aug 6.

PMID:
26077438
16.

Severe X-linked chondrodysplasia punctata in nine new female fetuses.

Lefebvre M, Dufernez F, Bruel AL, 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 JM, Bigi N, D'Olne D, Delezoide AL, Toutain A, Blesson S, Cormier-Daire V, Thevenon J, El Chehadeh S, Masurel-Paulet A, Joyé N, Vibert-Guigue C, Rigonnot L, Rousseau T, Vabres P, Hervé P, Lamazière A, Rivière JB, Faivre L, Laurent N, Thauvin-Robinet C.

Prenat Diagn. 2015 Jul;35(7):675-84. doi: 10.1002/pd.4591. Epub 2015 Mar 30.

PMID:
25754886
17.

Generalized lymphedema associated with neurologic signs (GLANS) syndrome: a new entity?

Berton M, Lorette G, Baulieu F, Lagrue E, Blesson S, Cambazard F, Vaillant L, Maruani A.

J Am Acad Dermatol. 2015 Feb;72(2):333-9. doi: 10.1016/j.jaad.2014.10.033. Epub 2014 Dec 4.

PMID:
25484267
18.

Improving the Quality of Host Country Ethical Oversight of International Research: The Use of a Collaborative 'Pre-Review' Mechanism for a Study of Fexinidazole for Human African Trypanosomiasis.

Coleman CH, Ardiot C, Blesson S, Bonnin Y, Bompart F, Colonna P, Dhai A, Ecuru J, Edielu A, Hervé C, Hirsch F, Kouyaté B, Mamzer-Bruneel MF, Maoundé D, Martinent E, Ntsiba H, Pelé G, Quéva G, Reinmund MC, Sarr SC, Sepou A, Tarral A, Tetimian D, Valverde O, Van Nieuwenhove S, Strub-Wourgaft N.

Dev World Bioeth. 2015 Dec;15(3):241-7. doi: 10.1111/dewb.12068. Epub 2014 Jul 14.

19.

Determination of an optimal dosing regimen for fexinidazole, a novel oral drug for the treatment of human African trypanosomiasis: first-in-human studies.

Tarral A, Blesson S, Mordt OV, Torreele E, Sassella D, Bray MA, Hovsepian L, Evène E, Gualano V, Felices M, Strub-Wourgaft N.

Clin Pharmacokinet. 2014 Jun;53(6):565-80. doi: 10.1007/s40262-014-0136-3.

20.

Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases.

Adle-Biassette H, Saugier-Veber P, Fallet-Bianco C, Delezoide AL, Razavi F, Drouot N, Bazin A, Beaufrère AM, Bessières B, Blesson S, Bucourt M, Carles D, Devisme L, Dijoud F, Fabre B, Fernandez C, Gaillard D, Gonzales M, Jossic F, Joubert M, Laurent N, Leroy B, Loeuillet L, Loget P, Marcorelles P, Martinovic J, Perez MJ, Satge D, Sinico M, Tosi M, Benichou J, Gressens P, Frebourg T, Laquerrière A.

Acta Neuropathol. 2013 Sep;126(3):427-42. doi: 10.1007/s00401-013-1146-1. Epub 2013 Jul 3.

PMID:
23820807
21.

Recurrent mutation in the PIEZO1 gene in two families of hereditary xerocytosis with fetal hydrops.

Beneteau C, Thierry G, Blesson S, Le Vaillant C, Picard V, Béné MC, Eveillard M, Le Caignec C.

Clin Genet. 2014 Mar;85(3):293-5. doi: 10.1111/cge.12147. Epub 2013 Apr 14. No abstract available.

PMID:
23581886
22.

In-hospital safety in field conditions of nifurtimox eflornithine combination therapy (NECT) for T. b. gambiense sleeping sickness.

Schmid C, Kuemmerle A, Blum J, Ghabri S, Kande V, Mutombo W, Ilunga M, Lumpungu I, Mutanda S, Nganzobo P, Tete D, Mubwa N, Kisala M, Blesson S, Mordt OV.

PLoS Negl Trop Dis. 2012;6(11):e1920. doi: 10.1371/journal.pntd.0001920. Epub 2012 Nov 29.

23.

Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.

Gribouval O, Morinière V, Pawtowski A, Arrondel C, Sallinen SL, Saloranta C, Clericuzio C, Viot G, Tantau J, Blesson S, Cloarec S, Machet MC, Chitayat D, Thauvin C, Laurent N, Sampson JR, Bernstein JA, Clemenson A, Prieur F, Daniel L, Levy-Mozziconacci A, Lachlan K, Alessandri JL, Cartault F, Rivière JP, Picard N, Baumann C, Delezoide AL, Belar Ortega M, Chassaing N, Labrune P, Yu S, Firth H, Wellesley D, Bitzan M, Alfares A, Braverman N, Krogh L, Tolmie J, Gaspar H, Doray B, Majore S, Bonneau D, Triau S, Loirat C, David A, Bartholdi D, Peleg A, Brackman D, Stone R, DeBerardinis R, Corvol P, Michaud A, Antignac C, Gubler MC.

Hum Mutat. 2012 Feb;33(2):316-26. doi: 10.1002/humu.21661. Epub 2011 Dec 22. Review.

PMID:
22095942
24.

Twenty-five novel mutations including duplications in the ATP7A gene.

Moizard MP, Ronce N, Blesson S, Bieth E, Burglen L, Mignot C, Mortemousque I, Marmin N, Dessay B, Danesino C, Feillet F, Castelnau P, Toutain A, Moraine C, Raynaud M.

Clin Genet. 2011 Mar;79(3):243-53. doi: 10.1111/j.1399-0004.2010.01461.x.

PMID:
21208200
25.

The anti-angiogenic activity of IL-12 is increased in iNOS-/- mice and involves NK cells.

Bielawska-Pohl A, Blesson S, Benlalam H, Trenado A, Opolon P, Bawa O, Rouffiac V, Dus D, Kieda C, Chouaib S.

J Mol Med (Berl). 2010 Aug;88(8):775-84. doi: 10.1007/s00109-010-0620-7. Epub 2010 Apr 11.

PMID:
20383693
26.

Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism.

Laumonnier F, Shoubridge C, Antar C, Nguyen LS, Van Esch H, Kleefstra T, Briault S, Fryns JP, Hamel B, Chelly J, Ropers HH, Ronce N, Blesson S, Moraine C, Gécz J, Raynaud M.

Mol Psychiatry. 2010 Jul;15(7):767-76. doi: 10.1038/mp.2009.14. Epub 2009 Feb 24.

PMID:
19238151
27.

[Ophthalmologic signs in mucopolysaccharidoses: two case reports].

Lala-Gitteau E, Majzoub S, Labarthe F, Blesson S, Pisella PJ.

J Fr Ophtalmol. 2007 Feb;30(2):165-9. French.

28.

Screening of the 1 Mb SOX9 5' control region by array CGH identifies a large deletion in a case of campomelic dysplasia with XY sex reversal.

Pop R, Conz C, Lindenberg KS, Blesson S, Schmalenberger B, Briault S, Pfeifer D, Scherer G.

J Med Genet. 2004 Apr;41(4):e47. No abstract available.

29.

MECP2 gene mutations in non-syndromic X-linked mental retardation: phenotype-genotype correlation.

Gomot M, Gendrot C, Verloes A, Raynaud M, David A, Yntema HG, Dessay S, Kalscheuer V, Frints S, Couvert P, Briault S, Blesson S, Toutain A, Chelly J, Desportes V, Moraine C.

Am J Med Genet A. 2003 Dec 1;123A(2):129-39.

PMID:
14598336
30.

Prenatal diagnosis of trisomy 21 by i(21q): a rare case of fetoplacental chromosomal discrepancy.

Gilardi JL, Perrotin F, Paillet C, Blesson S, Cave H, Briault S, Moraine C.

Prenat Diagn. 2002 Oct;22(10):856-8.

PMID:
12378564
31.

Analysis of the mechanisms of human cytotoxic T lymphocyte response inhibition by NO.

Blesson S, Thiery J, Gaudin C, Stancou R, Kolb JP, Moreau JL, Theze J, Mami-Chouaib F, Chouaib S.

Int Immunol. 2002 Oct;14(10):1169-78.

PMID:
12356682
33.

[Hemolytic anemia after kidney transplantation].

Cartron J, Blesson S, Celton JL, Berthélémé JP, Broyer M, Niaudet P.

Presse Med. 1994 Apr 16;23(15):707-9. French.

PMID:
8072976

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