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Items: 48

1.

Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

Tabet AC, Rolland T, Ducloy M, Lévy J, Buratti J, Mathieu A, Haye D, Perrin L, Dupont C, Passemard S, Capri Y, Verloes A, Drunat S, Keren B, Mignot C, Marey I, Jacquette A, Whalen S, Pipiras E, Benzacken B, Chantot-Bastaraud S, Afenjar A, Héron D, Le Caignec C, Beneteau C, Pichon O, Isidor B, David A, El Khattabi L, Kemeny S, Gouas L, Vago P, Mosca-Boidron AL, Faivre L, Missirian C, Philip N, Sanlaville D, Edery P, Satre V, Coutton C, Devillard F, Dieterich K, Vuillaume ML, Rooryck C, Lacombe D, Pinson L, Gatinois V, Puechberty J, Chiesa J, Lespinasse J, Dubourg C, Quelin C, Fradin M, Journel H, Toutain A, Martin D, Benmansour A, Leblond CS, Toro R, Amsellem F, Delorme R, Bourgeron T.

NPJ Genom Med. 2019 Jul 1;4:16. doi: 10.1038/s41525-019-0090-y. eCollection 2019.

2.

A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

Tabet AC, Rolland T, Ducloy M, Lévy J, Buratti J, Mathieu A, Haye D, Perrin L, Dupont C, Passemard S, Capri Y, Verloes A, Drunat S, Keren B, Mignot C, Marey I, Jacquette A, Whalen S, Pipiras E, Benzacken B, Chantot-Bastaraud S, Afenjar A, Héron D, Le Caignec C, Beneteau C, Pichon O, Isidor B, David A, El Khattabi L, Kemeny S, Gouas L, Vago P, Mosca-Boidron AL, Faivre L, Missirian C, Philip N, Sanlaville D, Edery P, Satre V, Coutton C, Devillard F, Dieterich K, Vuillaume ML, Rooryck C, Lacombe D, Pinson L, Gatinois V, Puechberty J, Chiesa J, Lespinasse J, Dubourg C, Quelin C, Fradin M, Journel H, Toutain A, Martin D, Benmansour A, Leblond CS, Toro R, Amsellem F, Delorme R, Bourgeron T.

NPJ Genom Med. 2017 Oct 23;2:32. doi: 10.1038/s41525-017-0035-2. eCollection 2017. Erratum in: NPJ Genom Med. 2019 Jul 1;4:16.

3.

Spatial organization of chromosome territories in the interphase nucleus of trisomy 21 cells.

Kemeny S, Tatout C, Salaun G, Pebrel-Richard C, Goumy C, Ollier N, Maurin E, Pereira B, Vago P, Gouas L.

Chromosoma. 2018 Jun;127(2):247-259. doi: 10.1007/s00412-017-0653-6. Epub 2017 Dec 14.

PMID:
29238858
4.

Cdc25A phosphatase: a key cell cycle protein that regulates neuron death in disease and development.

Biswas SC, Sanphui P, Chatterjee N, Kemeny S, Greene LA.

Cell Death Dis. 2017 Mar 23;8(3):e2692. doi: 10.1038/cddis.2017.115. No abstract available.

5.

Role and regulation of Cdc25A phosphatase in neuron death induced by NGF deprivation or β-amyloid.

Chatterjee N, Sanphui P, Kemeny S, Greene LA, Biswas SC.

Cell Death Discov. 2016 Dec 12;2:16083. doi: 10.1038/cddiscovery.2016.83. eCollection 2016.

6.

A novel 2q14.1q14.3 deletion involving GLI2 and RNU4ATAC genes associated with partial corpus callosum agenesis and severe intrauterine growth retardation.

Goumy C, Gay-Bellile M, Salaun G, Kemeny S, Eymard-Pierre E, Biard M, Pebrel-Richard C, Vanlieferinghen P, Francannet C, Tchirkov A, Laurichesse H, Rouzade C, Gouas L, Vago P.

Birth Defects Res A Clin Mol Teratol. 2016 Sep;106(9):793-7. doi: 10.1002/bdra.23535. Epub 2016 Jun 27.

PMID:
27346851
7.

Characterization by microarray and meiotic segregation study of a der(10)t(10;18) in a patient with infertility and normal phenotype.

Kemeny S, Brugnon F, Eymard-Pierre E, Goumy C, Janny L, Tchirkov A, Francannet C, Vago P, Pebrel-Richard C.

Asian J Androl. 2017 Jan-Feb;19(1):135-137. doi: 10.4103/1008-682X.172818. No abstract available.

8.

A case which further refines the critical region for 15q25.2 microduplication phenotypes.

Monkam CY, Kemeny S, Miret A, Pebrel-Richard C, Sarret C.

Acta Neurol Belg. 2016 Dec;116(4):683-685. Epub 2016 Feb 29. No abstract available.

PMID:
26927603
9.

Prenatal Screening of 21 Microdeletion/Microduplication Syndromes and Subtelomeric Imbalances by MLPA in Fetuses with Increased Nuchal Translucency and Normal Karyotype.

Gouas L, Kémény S, Beaufrère AM, Eymard-Pierre E, Pebrel-Richard C, Tchirkov A, Lemery D, Laurichesse-Delmas H, Vago P, Goumy C.

Cytogenet Genome Res. 2015;146(1):28-32. doi: 10.1159/000435865. Epub 2015 Jul 21.

PMID:
26201711
10.

Congenital diaphragmatic hernia may be associated with 17q12 microdeletion syndrome.

Goumy C, Laffargue F, Eymard-Pierre E, Kemeny S, Gay-Bellile M, Gouas L, Gallot D, Francannet C, Tchirkov A, Pebrel-Richard C, Vago P.

Am J Med Genet A. 2015 Jan;167A(1):250-3. doi: 10.1002/ajmg.a.36840. Epub 2014 Nov 25.

PMID:
25425496
11.

Refinement of the critical region in a new 7p22.1 microduplication syndrome including craniofacial dysmorphism and speech delay.

Pebrel-Richard C, Rouzade C, Kemeny S, Eymard-Pierre E, Gay-Bellile M, Gouas L, Tchirkov A, Goumy C, Vago P.

Am J Med Genet A. 2014 Nov;164A(11):2964-7. doi: 10.1002/ajmg.a.36715. Epub 2014 Aug 14. No abstract available.

PMID:
25124455
12.

Clinical and molecular description of a 17q21.33 microduplication in a girl with severe kyphoscoliosis and developmental delay.

Kemeny S, Pebrel-Richard C, Eymard-Pierre E, Gay-Bellile M, Gouas L, Goumy C, Tchirkov A, Francannet C, Vago P.

Eur J Med Genet. 2014 Oct;57(10):552-7. doi: 10.1016/j.ejmg.2014.07.003. Epub 2014 Aug 6.

PMID:
25106685
13.

Glycated collagen decreased endothelial cell fibronectin alignment in response to cyclic stretch via interruption of actin alignment.

Figueroa DS, Kemeny SF, Clyne AM.

J Biomech Eng. 2014 Oct;136(10):101010. doi: 10.1115/1.4028037.

PMID:
25033159
14.

Best conditions for biodegradation of diesel oil by chemometric tools.

Kaczorek E, Bielicka-Daszkiewicz K, Héberger K, Kemény S, Olszanowski A, Voelkel A.

Braz J Microbiol. 2014 May 19;45(1):117-26. doi: 10.1590/S1517-83822014005000029. eCollection 2014.

15.

De novo 2q36.1q36.3 interstitial deletion involving the PAX3 and EPHA4 genes in a fetus with spina bifida and cleft palate.

Goumy C, Gay-Bellile M, Eymard-Pierre E, Kemeny S, Gouas L, Déchelotte P, Gallot D, Véronèse L, Tchirkov A, Pebrel-Richard C, Vago P.

Birth Defects Res A Clin Mol Teratol. 2014 Jun;100(6):507-11. doi: 10.1002/bdra.23246. Epub 2014 Apr 18.

PMID:
24753315
16.

An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3.

Pebrel-Richard C, Debost-Legrand A, Eymard-Pierre E, Greze V, Kemeny S, Gay-Bellile M, Gouas L, Tchirkov A, Vago P, Goumy C, Francannet C.

Eur J Hum Genet. 2014 Mar;22(3):369-73. doi: 10.1038/ejhg.2013.141. Epub 2013 Jul 17.

17.

Spatial and temporal features of superordinate semantic processing studied with fMRI and EEG.

Costanzo ME, McArdle JJ, Swett B, Nechaev V, Kemeny S, Xu J, Braun AR.

Front Hum Neurosci. 2013 Jul 1;7:293. doi: 10.3389/fnhum.2013.00293. eCollection 2013.

18.

Hypo- and hyperglycemia impair endothelial cell actin alignment and nitric oxide synthase activation in response to shear stress.

Kemeny SF, Figueroa DS, Clyne AM.

PLoS One. 2013 Jun 12;8(6):e66176. doi: 10.1371/journal.pone.0066176. Print 2013.

19.

Prenatal ultrasound diagnosis of a 48,XXYY syndrome.

Kemeny S, Pebrel-Richard C, Gouas L, Veronese L, Lemery D, Tchirkov A, Goumy C, Vago P.

Morphologie. 2013 Jun;97(317):65-7. doi: 10.1016/j.morpho.2013.01.001. Epub 2013 Mar 7.

PMID:
23473874
20.

Glycated collagen and altered glucose increase endothelial cell adhesion strength.

Kemeny SF, Cicalese S, Figueroa DS, Clyne AM.

J Cell Physiol. 2013 Aug;228(8):1727-36. doi: 10.1002/jcp.24313.

PMID:
23280505
21.

An atypical 0.8 Mb inherited duplication of 22q11.2 associated with psychomotor impairment.

Pebrel-Richard C, Kemeny S, Gouas L, Eymard-Pierre E, Blanc N, Francannet C, Tchirkov A, Goumy C, Vago P.

Eur J Med Genet. 2012 Nov;55(11):650-5. doi: 10.1016/j.ejmg.2012.06.014. Epub 2012 Jul 14.

PMID:
22796526
22.

Parkin promotes degradation of the mitochondrial pro-apoptotic ARTS protein.

Kemeny S, Dery D, Loboda Y, Rovner M, Lev T, Zuri D, Finberg JP, Larisch S.

PLoS One. 2012;7(7):e38837. doi: 10.1371/journal.pone.0038837. Epub 2012 Jul 9.

23.

Prenatal diagnosis of a rare de novo centromeric chromosome 6 variant.

Goumy C, Kemeny S, Eymard-Pierre E, Richard C, Gouas L, Combes P, Gay-Bellile M, Gallot D, Tchirkov A, Vago P.

Gene. 2011 Dec 15;490(1-2):15-7. doi: 10.1016/j.gene.2011.09.008. Epub 2011 Oct 1.

PMID:
21989483
24.

The IAP-antagonist ARTS initiates caspase activation upstream of cytochrome C and SMAC/Diablo.

Edison N, Zuri D, Maniv I, Bornstein B, Lev T, Gottfried Y, Kemeny S, Garcia-Fernandez M, Kagan J, Larisch S.

Cell Death Differ. 2012 Feb;19(2):356-68. doi: 10.1038/cdd.2011.112. Epub 2011 Aug 26.

25.

Glycated collagen alters endothelial cell actin alignment and nitric oxide release in response to fluid shear stress.

Kemeny SF, Figueroa DS, Andrews AM, Barbee KA, Clyne AM.

J Biomech. 2011 Jul 7;44(10):1927-35. doi: 10.1016/j.jbiomech.2011.04.026. Epub 2011 May 8.

PMID:
21555127
26.

A simplified implementation of edge detection in MATLAB is faster and more sensitive than fast fourier transform for actin fiber alignment quantification.

Kemeny SF, Clyne AM.

Microsc Microanal. 2011 Apr;17(2):156-66. doi: 10.1017/S143192761100002X. Epub 2011 Mar 9.

PMID:
21385521
27.

Long-term psychological and sexual outcomes of severe penile hypospadias repair.

Kiss A, Sulya B, Szász AM, Romics I, Kelemen Z, Tóth J, Merksz M, Kemény S, Nyírády P.

J Sex Med. 2011 May;8(5):1529-39. doi: 10.1111/j.1743-6109.2010.02120.x. Epub 2010 Nov 22.

PMID:
21091883
28.

Intra-amniotic N-terminal pro-brain natriuretic peptide in severe twin-to-twin transfusion syndrome treated by fetoscopic laser coagulation.

Delabaere A, Marceau G, Kemeny S, Sapin V, Ughetto S, Coste K, Gallot D.

Ultrasound Obstet Gynecol. 2010 May;35(5):620-1. doi: 10.1002/uog.7579. No abstract available.

29.

Neural mechanisms of auditory discrimination of long-duration tonal patterns: a neural modeling and fMRI study.

Ulloa A, Husain FT, Kemeny S, Xu J, Braun AR, Horwitz B.

J Integr Neurosci. 2008 Dec;7(4):501-27.

30.

Encoding, rehearsal, and recall in signers and speakers: shared network but differential engagement.

Bavelier D, Newman AJ, Mukherjee M, Hauser P, Kemeny S, Braun A, Boutla M.

Cereb Cortex. 2008 Oct;18(10):2263-74. doi: 10.1093/cercor/bhm248. Epub 2008 Jan 31.

31.

Content uniformity and assay requirements in current regulations.

Bánfai B, Ganzler K, Kemény S.

J Chromatogr A. 2007 Jul 13;1156(1-2):206-12. Epub 2006 Nov 15.

PMID:
17109871
32.

Molecular-genetic biodiversity in a natural population of the yeast Saccharomyces cerevisiae from "Evolution Canyon": microsatellite polymorphism, ploidy and controversial sexual status.

Ezov TK, Boger-Nadjar E, Frenkel Z, Katsperovski I, Kemeny S, Nevo E, Korol A, Kashi Y.

Genetics. 2006 Nov;174(3):1455-68. Epub 2006 Sep 15.

33.

Left hemispheric lateralization of brain activity during passive rhythm perception in musicians.

Limb CJ, Kemeny S, Ortigoza EB, Rouhani S, Braun AR.

Anat Rec A Discov Mol Cell Evol Biol. 2006 Apr;288(4):382-9.

34.

Temporal dissociation of early lexical access and articulation using a delayed naming task--an FMRI study.

Kemeny S, Xu J, Park GH, Hosey LA, Wettig CM, Braun AR.

Cereb Cortex. 2006 Apr;16(4):587-95. Epub 2005 Jul 27.

PMID:
16049190
35.

Regulation of the proapoptotic ARTS protein by ubiquitin-mediated degradation.

Lotan R, Rotem A, Gonen H, Finberg JP, Kemeny S, Steller H, Ciechanover A, Larisch S.

J Biol Chem. 2005 Jul 8;280(27):25802-10. Epub 2005 Apr 18.

36.

Language in context: emergent features of word, sentence, and narrative comprehension.

Xu J, Kemeny S, Park G, Frattali C, Braun A.

Neuroimage. 2005 Apr 15;25(3):1002-15.

PMID:
15809000
37.

Comparison of continuous overt speech fMRI using BOLD and arterial spin labeling.

Kemeny S, Ye FQ, Birn R, Braun AR.

Hum Brain Mapp. 2005 Mar;24(3):173-83.

PMID:
15486986
38.

Recovery of semantic word processing in global aphasia: a functional MRI study.

Zahn R, Drews E, Specht K, Kemeny S, Reith W, Willmes K, Schwarz M, Huber W.

Brain Res Cogn Brain Res. 2004 Feb;18(3):322-36.

PMID:
14741318
39.

Enantioseparation of chiral alcohols by complex formation and subsequent supercritical fluid extraction.

Székely E, Simándi B, Fogassy E, Kemény S, Kmecz I.

Chirality. 2003 Nov;15(9):783-6.

PMID:
14556215
40.

Recovery of semantic word processing in transcortical sensory aphasia: a functional magnetic resonance imaging study.

Zahn R, Huber W, Drews E, Specht K, Kemeny S, Reith W, Willmes K, Schwarz M.

Neurocase. 2002;8(5):376-86.

PMID:
12499412
41.

[Von Hippel-Lindau syndrome with spinal, cerebellar, and retinal hemangioblastoma in identical twins].

Wessels T, Kemeny S, Block F.

Nervenarzt. 2002 Dec;73(12):1195-8. German.

PMID:
12486572
42.

Encephalitis related to primary varicella-zoster virus infection in immunocompetent children.

Häusler M, Schaade L, Kemény S, Schweizer K, Schoenmackers C, Ramaekers VT.

J Neurol Sci. 2002 Mar 30;195(2):111-6.

PMID:
11897240
43.

Navigated transcranial magnetic stimulation for presurgical planning--correlation with functional MRI.

Krings T, Foltys H, Reinges MH, Kemeny S, Rohde V, Spetzger U, Gilsbach JM, Thron A.

Minim Invasive Neurosurg. 2001 Dec;44(4):234-9.

PMID:
11830785
44.

Metabolic and electrophysiological validation of functional MRI.

Krings T, Schreckenberger M, Rohde V, Foltys H, Spetzger U, Sabri O, Reinges MH, Kemeny S, Meyer PT, Möller-Hartmann W, Korinth M, Gilsbach JM, Buell U, Thron A.

J Neurol Neurosurg Psychiatry. 2001 Dec;71(6):762-71.

45.

Asymmetries of visual attention after circumscribed subcortical vascular lesions.

Fimm B, Zahn R, Mull M, Kemeny S, Buchwald F, Block F, Schwarz M.

J Neurol Neurosurg Psychiatry. 2001 Nov;71(5):652-7.

46.

Optical resolution of 6-fluoro-2-methyl-1,2,3,4-tetrahydroquinoline by supercritical fluid extraction.

Kmecz I, Simándi B, Bálint J, Székely E, Fogassy E, Kemény S.

Chirality. 2001;13(9):568-70.

PMID:
11579450
47.

Functional MRI for presurgical planning: problems, artefacts, and solution strategies.

Krings T, Reinges MH, Erberich S, Kemeny S, Rohde V, Spetzger U, Korinth M, Willmes K, Gilsbach JM, Thron A.

J Neurol Neurosurg Psychiatry. 2001 Jun;70(6):749-60.

48.

The representation of the plegic hand in the motor cortex: a combined fMRI and TMS study.

Foltys H, Kemeny S, Krings T, Boroojerdi B, Sparing R, Thron A, Töpper R.

Neuroreport. 2000 Jan 17;11(1):147-50.

PMID:
10683847

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