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Items: 24

1.

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, Billette de Villemeur T, Héron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xin Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Corbett MA, MacLennan AH, Gecz J, Biskup S, Goldmann E, Rodan LH, Kichula E, Segal E, Jackson KE, Asamoah A, Dimmock D, McCarrier J, Botto LD, Filloux F, Tvrdik T, Cascino GD, Klingerman S, Neumann C, Wang R, Jacobsen JC, Nolan MA, Snell RG, Lehnert K, Sadleir LG, Anderlid BM, Kvarnung M, Guerrini R, Friez MJ, Lyons MJ, Leonhard J, Kringlen G, Casas K, El Achkar CM, Smith LA, Rotenberg A, Poduri A, Sanchis-Juan A, Carss KJ, Rankin J, Zeman A, Raymond FL, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S; Deciphering Developmental Disorders Study, Hedrich UBS, Scheffer IE, Helbig I, Zamponi GW, Lerche H, Mefford HC.

Am J Hum Genet. 2018 Nov 1;103(5):666-678. doi: 10.1016/j.ajhg.2018.09.006. Epub 2018 Oct 18.

PMID:
30343943
2.

Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).

Bramswig NC, Bertoli-Avella AM, Albrecht B, Al Aqeel AI, Alhashem A, Al-Sannaa N, Bah M, Bröhl K, Depienne C, Dorison N, Doummar D, Ehmke N, Elbendary HM, Gorokhova S, Héron D, Horn D, James K, Keren B, Kuechler A, Ismail S, Issa MY, Marey I, Mayer M, McEvoy-Venneri J, Megarbane A, Mignot C, Mohamed S, Nava C, Philip N, Ravix C, Rolfs A, Sadek AA, Segebrecht L, Stanley V, Trautman C, Valence S, Villard L, Wieland T, Engels H, Strom TM, Zaki MS, Gleeson JG, Lüdecke HJ, Bauer P, Wieczorek D.

Hum Genet. 2018 Sep;137(9):753-768. doi: 10.1007/s00439-018-1929-5. Epub 2018 Aug 23.

PMID:
30167850
3.

Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies.

Valence S, Cochet E, Rougeot C, Garel C, Chantot-Bastaraud S, Lainey E, Afenjar A, Barthez MA, Bednarek N, Doummar D, Faivre L, Goizet C, Haye D, Heron B, Kemlin I, Lacombe D, Milh M, Moutard ML, Riant F, Robin S, Roubertie A, Sarda P, Toutain A, Villard L, Ville D, Billette de Villemeur T, Rodriguez D, Burglen L.

Genet Med. 2018 Jul 12. doi: 10.1038/s41436-018-0089-2. [Epub ahead of print]

PMID:
29997391
4.

A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience.

Rama M, Duflos C, Melki I, Bessis D, Bonhomme A, Martin H, Doummar D, Valence S, Rodriguez D, Carme E, Genevieve D, Heimdal K, Insalaco A, Franck N, Queyrel-Moranne V, Tieulie N, London J, Uettwiller F, Georgin-Lavialle S, Belot A, Koné-Paut I, Hentgen V, Boursier G, Touitou I, Sarrabay G.

Eur J Hum Genet. 2018 Jul;26(7):960-971. doi: 10.1038/s41431-018-0130-6. Epub 2018 Apr 23.

PMID:
29681619
5.

Pyridoxine dependent epilepsy: Is late onset a predictor for favorable outcome?

de Rooy RLP, Halbertsma FJ, Struijs EA, van Spronsen FJ, Lunsing RJ, Schippers HM, van Hasselt PM, Plecko B, Wohlrab G, Whalen S, Benoist JF, Valence S, Mills PB, Bok LA.

Eur J Paediatr Neurol. 2018 Jul;22(4):662-666. doi: 10.1016/j.ejpn.2018.03.009. Epub 2018 Mar 30.

PMID:
29661537
6.

Developmental patterns of fetal fat and corresponding signal on T1-weighted magnetic resonance imaging.

Blondiaux E, Chougar L, Gelot A, Valence S, Audureau E, Ducou le Pointe H, Jouannic JM, Dhombres F, Garel C.

Pediatr Radiol. 2018 Mar;48(3):317-324. doi: 10.1007/s00247-017-4038-z. Epub 2017 Dec 26.

PMID:
29279948
7.

Prenatal Imaging Findings of Pontine Tegmental Cap Dysplasia: Report of Four Cases.

Blondiaux E, Valence S, Friszer S, Rodriguez D, Burglen L, Ducou le Pointe H, Blouet M, Garel C.

Fetal Diagn Ther. 2017 Jul 5. doi: 10.1159/000475989. [Epub ahead of print]

PMID:
28675887
8.

Biodegradable and plasma-treated electrospun scaffolds coated with recombinant Olfactomedin-like 3 for accelerating wound healing and tissue regeneration.

Dunn LL, de Valence S, Tille JC, Hammel P, Walpoth BH, Stocker R, Imhof BA, Miljkovic-Licina M.

Wound Repair Regen. 2016 Nov;24(6):1030-1035. doi: 10.1111/wrr.12485. Epub 2016 Oct 12.

PMID:
27684720
9.

RELN and VLDLR mutations underlie two distinguishable clinico-radiological phenotypes.

Valence S, Garel C, Barth M, Toutain A, Paris C, Amsallem D, Barthez MA, Mayer M, Rodriguez D, Burglen L.

Clin Genet. 2016 Dec;90(6):545-549. doi: 10.1111/cge.12779. Epub 2016 Apr 29.

PMID:
27000652
10.

Histologic Assessment of Drug-Eluting Grafts Related to Implantation Site.

Tille JC, de Valence S, Mandracchia D, Nottelet B, Innocente F, Gurny R, Möller M, Walpoth BH.

J Dev Biol. 2016 Feb 20;4(1). pii: E11. doi: 10.3390/jdb4010011.

11.

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Pilliod J, Moutton S, Lavie J, Maurat E, Hubert C, Bellance N, Anheim M, Forlani S, Mochel F, N'Guyen K, Thauvin-Robinet C, Verny C, Milea D, Lesca G, Koenig M, Rodriguez D, Houcinat N, Van-Gils J, Durand CM, Guichet A, Barth M, Bonneau D, Convers P, Maillart E, Guyant-Marechal L, Hannequin D, Fromager G, Afenjar A, Chantot-Bastaraud S, Valence S, Charles P, Berquin P, Rooryck C, Bouron J, Brice A, Lacombe D, Rossignol R, Stevanin G, Benard G, Burglen L, Durr A, Goizet C, Coupry I.

Ann Neurol. 2015 Dec;78(6):871-86. doi: 10.1002/ana.24509. Epub 2015 Nov 14.

PMID:
26288984
12.

Rare ACTG1 variants in fetal microlissencephaly.

Poirier K, Martinovic J, Laquerrière A, Cavallin M, Fallet-Bianco C, Desguerre I, Valence S, Grande-Goburghun J, Francannet C, Deleuze JF, Boland A, Chelly J, Bahi-Buisson N.

Eur J Med Genet. 2015 Aug;58(8):416-8. doi: 10.1016/j.ejmg.2015.06.006. Epub 2015 Jul 16.

PMID:
26188271
13.

The selective intravenous inhibitor of the MET tyrosine kinase SAR125844 inhibits tumor growth in MET-amplified cancer.

Egile C, Kenigsberg M, Delaisi C, Bégassat F, Do-Vale V, Mestadier J, Bonche F, Bénard T, Nicolas JP, Valence S, Lefranc C, Francesconi E, Castell C, Lefebvre AM, Nemecek C, Calvet L, Goulaouic H.

Mol Cancer Ther. 2015 Feb;14(2):384-94. doi: 10.1158/1535-7163.MCT-14-0428. Epub 2014 Dec 10.

14.

The wide spectrum of tubulinopathies: what are the key features for the diagnosis?

Bahi-Buisson N, Poirier K, Fourniol F, Saillour Y, Valence S, Lebrun N, Hully M, Bianco CF, Boddaert N, Elie C, Lascelles K, Souville I; LIS-Tubulinopathies Consortium, Beldjord C, Chelly J.

Brain. 2014 Jun;137(Pt 6):1676-700. doi: 10.1093/brain/awu082.

PMID:
24860126
15.

Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria.

Valence S, Poirier K, Lebrun N, Saillour Y, Sonigo P, Bessières B, Attié-Bitach T, Benachi A, Masson C, Encha-Razavi F, Chelly J, Bahi-Buisson N.

Neurogenetics. 2013 Nov;14(3-4):215-24. doi: 10.1007/s10048-013-0373-x. Epub 2013 Sep 27.

PMID:
24072599
16.

Plasma treatment for improving cell biocompatibility of a biodegradable polymer scaffold for vascular graft applications.

Valence Sd, Tille JC, Chaabane C, Gurny R, Bochaton-Piallat ML, Walpoth BH, Möller M.

Eur J Pharm Biopharm. 2013 Sep;85(1):78-86. doi: 10.1016/j.ejpb.2013.06.012.

PMID:
23958319
17.

Porcine carotid artery replacement with biodegradable electrospun poly-e-caprolactone vascular prosthesis.

Mrówczyński W, Mugnai D, de Valence S, Tille JC, Khabiri E, Cikirikcioglu M, Möller M, Walpoth BH.

J Vasc Surg. 2014 Jan;59(1):210-9. doi: 10.1016/j.jvs.2013.03.004. Epub 2013 May 24.

18.

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.

Poirier K, Lebrun N, Broix L, Tian G, Saillour Y, Boscheron C, Parrini E, Valence S, Pierre BS, Oger M, Lacombe D, Geneviève D, Fontana E, Darra F, Cances C, Barth M, Bonneau D, Bernadina BD, N'guyen S, Gitiaux C, Parent P, des Portes V, Pedespan JM, Legrez V, Castelnau-Ptakine L, Nitschke P, Hieu T, Masson C, Zelenika D, Andrieux A, Francis F, Guerrini R, Cowan NJ, Bahi-Buisson N, Chelly J.

Nat Genet. 2013 Jun;45(6):639-47. doi: 10.1038/ng.2613. Epub 2013 Apr 21. Erratum in: Nat Genet. 2013 Aug;45(8):962.

19.

Experimental noninferiority trial of synthetic small-caliber biodegradable versus stable vascular grafts.

Mugnai D, Tille JC, Mrówczyński W, de Valence S, Montet X, Möller M, Walpoth BH.

J Thorac Cardiovasc Surg. 2013 Aug;146(2):400-7.e1. doi: 10.1016/j.jtcvs.2012.09.054. Epub 2012 Oct 23.

20.

Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria.

Poirier K, Saillour Y, Fourniol F, Francis F, Souville I, Valence S, Desguerre I, Marie Lepage J, Boddaert N, Line Jacquemont M, Beldjord C, Chelly J, Bahi-Buisson N.

Eur J Hum Genet. 2013 Apr;21(4):381-5. doi: 10.1038/ejhg.2012.195. Epub 2012 Sep 5.

21.

Advantages of bilayered vascular grafts for surgical applicability and tissue regeneration.

de Valence S, Tille JC, Giliberto JP, Mrowczynski W, Gurny R, Walpoth BH, Möller M.

Acta Biomater. 2012 Nov;8(11):3914-20. doi: 10.1016/j.actbio.2012.06.035. Epub 2012 Jul 6.

PMID:
22771455
22.

Long term performance of polycaprolactone vascular grafts in a rat abdominal aorta replacement model.

de Valence S, Tille JC, Mugnai D, Mrowczynski W, Gurny R, Möller M, Walpoth BH.

Biomaterials. 2012 Jan;33(1):38-47. doi: 10.1016/j.biomaterials.2011.09.024. Epub 2011 Sep 21.

PMID:
21940044
23.

A high-throughput microfluidic assay to study neurite response to growth factor gradients.

Kothapalli CR, van Veen E, de Valence S, Chung S, Zervantonakis IK, Gertler FB, Kamm RD.

Lab Chip. 2011 Feb 7;11(3):497-507. doi: 10.1039/c0lc00240b. Epub 2010 Nov 25.

PMID:
21107471
24.

Paclitaxel-eluting biodegradable synthetic vascular prostheses: a step towards reduction of neointima formation?

Innocente F, Mandracchia D, Pektok E, Nottelet B, Tille JC, de Valence S, Faggian G, Mazzucco A, Kalangos A, Gurny R, Moeller M, Walpoth BH.

Circulation. 2009 Sep 15;120(11 Suppl):S37-45. doi: 10.1161/CIRCULATIONAHA.109.848242.

PMID:
19752384

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