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Items: 1 to 50 of 64

1.

Digenic inheritance of human primary microcephaly delineates centrosomal and non centrosomal pathways.

Duerinckx S, Jacquemin V, Drunat S, Vial Y, Passemard S, Perazzolo C, Massart A, Soblet J, Racapé J, Desmyter L, Badoer C, Papadimitriou S, Borgne YL, Lefort A, Libert F, Maertelaer V, Rooman M, Costagliola S, Verloes A, Lenaerts T, Pirson I, Abramowicz M.

Hum Mutat. 2019 Nov 7. doi: 10.1002/humu.23948. [Epub ahead of print]

PMID:
31696992
2.

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.

3.

VPS51 biallelic variants cause microcephaly with brain malformations: A confirmatory report.

Uwineza A, Caberg JH, Hitayezu J, Wenric S, Mutesa L, Vial Y, Drunat S, Passemard S, Verloes A, El Ghouzzi V, Bours V.

Eur J Med Genet. 2019 Aug;62(8):103704. doi: 10.1016/j.ejmg.2019.103704. Epub 2019 Jun 14.

PMID:
31207318
4.

Golgipathies in Neurodevelopment: A New View of Old Defects.

Rasika S, Passemard S, Verloes A, Gressens P, El Ghouzzi V.

Dev Neurosci. 2018;40(5-6):396-416. doi: 10.1159/000497035. Epub 2019 Mar 15. Review.

5.

Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly.

Boonsawat P, Joset P, Steindl K, Oneda B, Gogoll L, Azzarello-Burri S, Sheth F, Datar C, Verma IC, Puri RD, Zollino M, Bachmann-Gagescu R, Niedrist D, Papik M, Figueiro-Silva J, Masood R, Zweier M, Kraemer D, Lincoln S, Rodan L; Undiagnosed Diseases Network (UDN), Passemard S, Drunat S, Verloes A, Horn AHC, Sticht H, Steinfeld R, Plecko B, Latal B, Jenni O, Asadollahi R, Rauch A.

Genet Med. 2019 Sep;21(9):2043-2058. doi: 10.1038/s41436-019-0464-7. Epub 2019 Mar 7.

6.

Correction to: ZIKA virus elicits P53 activation and genotoxic stress in human neural progenitors similar to mutations involved in severe forms of genetic microcephaly.

El Ghouzzi V, Bianchi FT, Molineris I, Mounce BC, Berto GE, Rak M, Lebon S, Aubry L, Tocco C, Gai M, Chiotto AMA, Sgrò F, Pallavicini G, Simon-Loriere E, Passemard S, Vignuzzi M, Gressens P, Di Cunto F.

Cell Death Dis. 2018 Nov 20;9(12):1155. doi: 10.1038/s41419-018-1159-8.

7.

Beneficial Effects of Human Mesenchymal Stromal Cells on Porcine Hepatocyte Viability and Albumin Secretion.

Montanari E, Pimenta J, Szabó L, Noverraz F, Passemard S, Meier RPH, Meyer J, Sidibe J, Thomas A, Schuurman HJ, Gerber-Lemaire S, Gonelle-Gispert C, Buhler LH.

J Immunol Res. 2018 Jan 11;2018:1078547. doi: 10.1155/2018/1078547. eCollection 2018.

8.

INTU-related oral-facial-digital syndrome type VI: A confirmatory report.

Bruel AL, Levy J, Elenga N, Defo A, Favre A, Lucron H, Capri Y, Perrin L, Passemard S, Vial Y, Tabet AC, Faivre L, Thauvin-Robinet C, Verloes A.

Clin Genet. 2018 Jun;93(6):1205-1209. doi: 10.1111/cge.13238. Epub 2018 Apr 6.

PMID:
29451301
9.

STIL balancing primary microcephaly and cancer.

Patwardhan D, Mani S, Passemard S, Gressens P, El Ghouzzi V.

Cell Death Dis. 2018 Jan 19;9(2):65. doi: 10.1038/s41419-017-0101-9. Review.

10.

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.

11.

Autosomal recessive primary microcephaly due to ASPM mutations: An update.

Létard P, Drunat S, Vial Y, Duerinckx S, Ernault A, Amram D, Arpin S, Bertoli M, Busa T, Ceulemans B, Desir J, Doco-Fenzy M, Elalaoui SC, Devriendt K, Faivre L, Francannet C, Geneviève D, Gérard M, Gitiaux C, Julia S, Lebon S, Lubala T, Mathieu-Dramard M, Maurey H, Metreau J, Nasserereddine S, Nizon M, Pierquin G, Pouvreau N, Rivier-Ringenbach C, Rossi M, Schaefer E, Sefiani A, Sigaudy S, Sznajer Y, Tunca Y, Guilmin Crepon S, Alberti C, Elmaleh-Bergès M, Benzacken B, Wollnick B, Woods CG, Rauch A, Abramowicz M, El Ghouzzi V, Gressens P, Verloes A, Passemard S.

Hum Mutat. 2018 Mar;39(3):319-332. doi: 10.1002/humu.23381. Epub 2018 Jan 16. Erratum in: Hum Mutat. 2019 Jan;40(1):127.

PMID:
29243349
12.

WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells.

Cavallin M, Rujano MA, Bednarek N, Medina-Cano D, Bernabe Gelot A, Drunat S, Maillard C, Garfa-Traore M, Bole C, Nitschké P, Beneteau C, Besnard T, Cogné B, Eveillard M, Kuster A, Poirier K, Verloes A, Martinovic J, Bidat L, Rio M, Lyonnet S, Reilly ML, Boddaert N, Jenneson-Liver M, Motte J, Doco-Fenzy M, Chelly J, Attie-Bitach T, Simons M, Cantagrel V, Passemard S, Baffet A, Thomas S, Bahi-Buisson N.

Brain. 2017 Oct 1;140(10):2597-2609. doi: 10.1093/brain/awx218.

PMID:
28969387
13.

Synthesis Strategies to Extend the Variety of Alginate-Based Hybrid Hydrogels for Cell Microencapsulation.

Passemard S, Szabó L, Noverraz F, Montanari E, Gonelle-Gispert C, Bühler LH, Wandrey C, Gerber-Lemaire S.

Biomacromolecules. 2017 Sep 11;18(9):2747-2755. doi: 10.1021/acs.biomac.7b00665. Epub 2017 Aug 8.

PMID:
28742341
14.

Multi-harmonic Imaging in the Second Near-Infrared Window of Nanoparticle-Labeled Stem Cells as a Monitoring Tool in Tissue Depth.

Dubreil L, Leroux I, Ledevin M, Schleder C, Lagalice L, Lovo C, Fleurisson R, Passemard S, Kilin V, Gerber-Lemaire S, Colle MA, Bonacina L, Rouger K.

ACS Nano. 2017 Jul 25;11(7):6672-6681. doi: 10.1021/acsnano.7b00773. Epub 2017 Jun 27.

PMID:
28644009
15.

Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome.

Lévy J, Coussement A, Dupont C, Guimiot F, Baumann C, Viot G, Passemard S, Capri Y, Drunat S, Verloes A, Pipiras E, Benzacken B, Dupont JM, Tabet AC.

Am J Med Genet A. 2017 Aug;173(8):2081-2087. doi: 10.1002/ajmg.a.38302. Epub 2017 Jun 1.

PMID:
28573701
16.

Phosphoglycerate dehydrogenase (PHGDH) deficiency without epilepsy mimicking primary microcephaly.

Poli A, Vial Y, Haye D, Passemard S, Schiff M, Nasser H, Delanoe C, Cuadro E, Kom R, Elanga N, Favre A, Drunat S, Verloes A.

Am J Med Genet A. 2017 Jul;173(7):1936-1942. doi: 10.1002/ajmg.a.38217. Epub 2017 Apr 25.

PMID:
28440900
17.

Golgi trafficking defects in postnatal microcephaly: The evidence for "Golgipathies".

Passemard S, Perez F, Colin-Lemesre E, Rasika S, Gressens P, El Ghouzzi V.

Prog Neurobiol. 2017 Jun;153:46-63. doi: 10.1016/j.pneurobio.2017.03.007. Epub 2017 Apr 2. Review.

PMID:
28377289
18.

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.

Depienne C, Nava C, Keren B, Heide S, Rastetter A, Passemard S, Chantot-Bastaraud S, Moutard ML, Agrawal PB, VanNoy G, Stoler JM, Amor DJ, Billette de Villemeur T, Doummar D, Alby C, Cormier-Daire V, Garel C, Marzin P, Scheidecker S, de Saint-Martin A, Hirsch E, Korff C, Bottani A, Faivre L, Verloes A, Orzechowski C, Burglen L, Leheup B, Roume J, Andrieux J, Sheth F, Datar C, Parker MJ, Pasquier L, Odent S, Naudion S, Delrue MA, Le Caignec C, Vincent M, Isidor B, Renaldo F, Stewart F, Toutain A, Koehler U, Häckl B, von Stülpnagel C, Kluger G, Møller RS, Pal D, Jonson T, Soller M, Verbeek NE, van Haelst MM, de Kovel C, Koeleman B, Monroe G, van Haaften G; DDD Study, Attié-Bitach T, Boutaud L, Héron D, Mignot C.

Hum Genet. 2017 Apr;136(4):463-479. doi: 10.1007/s00439-017-1772-0. Epub 2017 Mar 10.

19.

ZIKA virus elicits P53 activation and genotoxic stress in human neural progenitors similar to mutations involved in severe forms of genetic microcephaly and p53.

Ghouzzi VE, Bianchi FT, Molineris I, Mounce BC, Berto GE, Rak M, Lebon S, Aubry L, Tocco C, Gai M, Chiotto AM, Sgrò F, Pallavicini G, Simon-Loriere E, Passemard S, Vignuzzi M, Gressens P, Di Cunto F.

Cell Death Dis. 2017 Jan 19;8(1):e2567. doi: 10.1038/cddis.2016.446. No abstract available.

20.

ZIKA virus elicits P53 activation and genotoxic stress in human neural progenitors similar to mutations involved in severe forms of genetic microcephaly.

Ghouzzi VE, Bianchi FT, Molineris I, Mounce BC, Berto GE, Rak M, Lebon S, Aubry L, Tocco C, Gai M, Chiotto AM, Sgrò F, Pallavicini G, Simon-Loriere E, Passemard S, Vignuzzi M, Gressens P, Di Cunto F.

Cell Death Dis. 2016 Oct 27;7(10):e2440. doi: 10.1038/cddis.2016.266. Erratum in: Cell Death Dis. 2017 Jan 19;8(1):e2567. Cell Death Dis. 2018 Nov 20;9(12):1155.

21.

ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects.

Izumi K, Brett M, Nishi E, Drunat S, Tan ES, Fujiki K, Lebon S, Cham B, Masuda K, Arakawa M, Jacquinet A, Yamazumi Y, Chen ST, Verloes A, Okada Y, Katou Y, Nakamura T, Akiyama T, Gressens P, Foo R, Passemard S, Tan EC, El Ghouzzi V, Shirahige K.

Am J Hum Genet. 2016 Aug 4;99(2):451-9. doi: 10.1016/j.ajhg.2016.06.011. Epub 2016 Jul 28.

22.

Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons.

Harding BN, Moccia A, Drunat S, Soukarieh O, Tubeuf H, Chitty LS, Verloes A, Gressens P, El Ghouzzi V, Joriot S, Di Cunto F, Martins A, Passemard S, Bielas SL.

Am J Hum Genet. 2016 Aug 4;99(2):511-20. doi: 10.1016/j.ajhg.2016.07.003. Epub 2016 Jul 21.

23.

Contribution of polymeric materials to progress in xenotransplantation of microencapsulated cells: a review.

Mahou R, Passemard S, Carvello M, Petrelli A, Noverraz F, Gerber-Lemaire S, Wandrey C.

Xenotransplantation. 2016 May;23(3):179-201. doi: 10.1111/xen.12240. Epub 2016 Jun 2. Review.

PMID:
27250036
24.

Angelman syndrome and isovaleric acidemia: What is the link?

Lambrecht A, Pichard S, Maurey H, Segarra NG, Drunat S, Acquaviva-Bourdain C, Passemard S, Benoist JF, Fauret-Amsellem AL, Schiff M.

Mol Genet Metab Rep. 2015 Mar 30;3:36-8. doi: 10.1016/j.ymgmr.2015.03.004. eCollection 2015 Jun.

25.

Abnormal spindle-like microcephaly-associated (ASPM) mutations strongly disrupt neocortical structure but spare the hippocampus and long-term memory.

Passemard S, Verloes A, Billette de Villemeur T, Boespflug-Tanguy O, Hernandez K, Laurent M, Isidor B, Alberti C, Pouvreau N, Drunat S, Gérard B, El Ghouzzi V, Gallego J, Elmaleh-Bergès M, Huttner WB, Eliez S, Gressens P, Schaer M.

Cortex. 2016 Jan;74:158-76. doi: 10.1016/j.cortex.2015.10.010. Epub 2015 Oct 31.

PMID:
26691732
26.

Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.

Bronicki LM, Redin C, Drunat S, Piton A, Lyons M, Passemard S, Baumann C, Faivre L, Thevenon J, Rivière JB, Isidor B, Gan G, Francannet C, Willems M, Gunel M, Jones JR, Gleeson JG, Mandel JL, Stevenson RE, Friez MJ, Aylsworth AS.

Eur J Hum Genet. 2015 Nov;23(11):1482-7. doi: 10.1038/ejhg.2015.29. Epub 2015 Apr 29.

27.

Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder.

Tabet AC, Verloes A, Pilorge M, Delaby E, Delorme R, Nygren G, Devillard F, Gérard M, Passemard S, Héron D, Siffroi JP, Jacquette A, Delahaye A, Perrin L, Dupont C, Aboura A, Bitoun P, Coleman M, Leboyer M, Gillberg C, Benzacken B, Betancur C.

Mol Autism. 2015 Mar 25;6:19. doi: 10.1186/s13229-015-0015-2. eCollection 2015.

28.

Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy.

Scheidecker S, Etard C, Haren L, Stoetzel C, Hull S, Arno G, Plagnol V, Drunat S, Passemard S, Toutain A, Obringer C, Koob M, Geoffroy V, Marion V, Strähle U, Ostergaard P, Verloes A, Merdes A, Moore AT, Dollfus H.

Am J Hum Genet. 2015 Apr 2;96(4):666-74. doi: 10.1016/j.ajhg.2015.02.011. Epub 2015 Mar 26.

29.

Cellular uptake and biocompatibility of bismuth ferrite harmonic advanced nanoparticles.

Staedler D, Passemard S, Magouroux T, Rogov A, Maguire CM, Mohamed BM, Schwung S, Rytz D, Jüstel T, Hwu S, Mugnier Y, Le Dantec R, Volkov Y, Gerber-Lemaire S, Prina-Mello A, Bonacina L, Wolf JP.

Nanomedicine. 2015 May;11(4):815-24. doi: 10.1016/j.nano.2014.12.018. Epub 2015 Jan 31.

PMID:
25652898
30.

Dymeclin deficiency causes postnatal microcephaly, hypomyelination and reticulum-to-Golgi trafficking defects in mice and humans.

Dupuis N, Fafouri A, Bayot A, Kumar M, Lecharpentier T, Ball G, Edwards D, Bernard V, Dournaud P, Drunat S, Vermelle-Andrzejewski M, Vilain C, Abramowicz M, Désir J, Bonaventure J, Gareil N, Boncompain G, Csaba Z, Perez F, Passemard S, Gressens P, El Ghouzzi V.

Hum Mol Genet. 2015 May 15;24(10):2771-83. doi: 10.1093/hmg/ddv038. Epub 2015 Feb 4.

PMID:
25652408
31.

A case of Lennox-Gastaut syndrome in a patient with FOXG1-related disorder.

Terrone G, Bienvenu T, Germanaud D, Barthez-Carpentier MA, Diebold B, Delanoe C, Passemard S, Auvin S.

Epilepsia. 2014 Nov;55(11):e116-9. doi: 10.1111/epi.12800. Epub 2014 Sep 29.

32.

Drug screening boosted by hyperpolarized long-lived states in NMR.

Buratto R, Bornet A, Milani J, Mammoli D, Vuichoud B, Salvi N, Singh M, Laguerre A, Passemard S, Gerber-Lemaire S, Jannin S, Bodenhausen G.

ChemMedChem. 2014 Nov;9(11):2509-15. doi: 10.1002/cmdc.201402214. Epub 2014 Sep 4.

33.

Simplified gyral pattern in severe developmental microcephalies? New insights from allometric modeling for spatial and spectral analysis of gyrification.

Germanaud D, Lefèvre J, Fischer C, Bintner M, Curie A, des Portes V, Eliez S, Elmaleh-Bergès M, Lamblin D, Passemard S, Operto G, Schaer M, Verloes A, Toro R, Mangin JF, Hertz-Pannier L.

Neuroimage. 2014 Nov 15;102 Pt 2:317-31. doi: 10.1016/j.neuroimage.2014.07.057. Epub 2014 Aug 6.

PMID:
25107856
34.

Loss of α1β1 soluble guanylate cyclase, the major nitric oxide receptor, leads to moyamoya and achalasia.

Hervé D, Philippi A, Belbouab R, Zerah M, Chabrier S, Collardeau-Frachon S, Bergametti F, Essongue A, Berrou E, Krivosic V, Sainte-Rose C, Houdart E, Adam F, Billiemaz K, Lebret M, Roman S, Passemard S, Boulday G, Delaforge A, Guey S, Dray X, Chabriat H, Brouckaert P, Bryckaert M, Tournier-Lasserve E.

Am J Hum Genet. 2014 Mar 6;94(3):385-94. doi: 10.1016/j.ajhg.2014.01.018. Epub 2014 Feb 27. Erratum in: Am J Hum Genet. 2014 Apr 3;94(4):642.

35.

Deep UV generation and direct DNA photo-interaction by harmonic nanoparticles in labelled samples.

Staedler D, Magouroux T, Passemard S, Schwung S, Dubled M, Schneiter GS, Rytz D, Gerber-Lemaire S, Bonacina L, Wolf JP.

Nanoscale. 2014 Mar 7;6(5):2929-36. doi: 10.1039/c3nr05897b. Epub 2014 Jan 30.

PMID:
24477750
36.

Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders.

Verloes A, Drunat S, Gressens P, Passemard S.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2009 Sep 1 [updated 2013 Oct 31].

37.

Detailed investigations of proximal tubular function in Imerslund-Gräsbeck syndrome.

Storm T, Zeitz C, Cases O, Amsellem S, Verroust PJ, Madsen M, Benoist JF, Passemard S, Lebon S, Jønsson IM, Emma F, Koldsø H, Hertz JM, Nielsen R, Christensen EI, Kozyraki R.

BMC Med Genet. 2013 Oct 24;14:111. doi: 10.1186/1471-2350-14-111.

38.

Convenient synthesis of heterobifunctional poly(ethylene glycol) suitable for the functionalization of iron oxide nanoparticles for biomedical applications.

Passemard S, Staedler D, Učňová L, Schneiter GS, Kong P, Bonacina L, Juillerat-Jeanneret L, Gerber-Lemaire S.

Bioorg Med Chem Lett. 2013 Sep 1;23(17):5006-10. doi: 10.1016/j.bmcl.2013.06.037. Epub 2013 Jun 25.

PMID:
23860589
39.

Microcephaly.

Passemard S, Kaindl AM, Verloes A.

Handb Clin Neurol. 2013;111:129-41. doi: 10.1016/B978-0-444-52891-9.00013-0. Review.

PMID:
23622158
40.

Neuroprotective effects of dexmedetomidine against glutamate agonist-induced neuronal cell death are related to increased astrocyte brain-derived neurotrophic factor expression.

Degos V, Charpentier TL, Chhor V, Brissaud O, Lebon S, Schwendimann L, Bednareck N, Passemard S, Mantz J, Gressens P.

Anesthesiology. 2013 May;118(5):1123-32. doi: 10.1097/ALN.0b013e318286cf36.

PMID:
23353792
41.

A de novo 17q21.2 duplication in a boy with developmental delay and dysmorphic features.

Poirsier-Violle C, Abourra A, Baumann C, Perrin L, Capri Y, Mignot C, Passemard S, Drunat S, Verloes A.

Eur J Med Genet. 2013 Apr;56(4):226-8. doi: 10.1016/j.ejmg.2012.12.005. Epub 2013 Jan 19.

PMID:
23337768
42.

Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities.

Breuss M, Heng JI, Poirier K, Tian G, Jaglin XH, Qu Z, Braun A, Gstrein T, Ngo L, Haas M, Bahi-Buisson N, Moutard ML, Passemard S, Verloes A, Gressens P, Xie Y, Robson KJ, Rani DS, Thangaraj K, Clausen T, Chelly J, Cowan NJ, Keays DA.

Cell Rep. 2012 Dec 27;2(6):1554-62. doi: 10.1016/j.celrep.2012.11.017. Epub 2012 Dec 13.

43.

How can cobalamin injections be spaced in long-term therapy for inborn errors of vitamin B(12) absorption?

Boina Abdallah A, Ogier de Baulny H, Kozyraki R, Passemard S, Fenneteau O, Lebon S, Rigal O, Mesples B, Yacouben K, Giraudier S, Benoist JF, Schiff M.

Mol Genet Metab. 2012 Sep;107(1-2):66-71. doi: 10.1016/j.ymgme.2012.07.007. Epub 2012 Jul 20.

PMID:
22854512
44.

A new lysosomal storage disorder resembling Morquio syndrome in sibs.

Perrin L, Fenneteau O, Ilharreborde B, Capri Y, Gérard M, Quoc EB, Passemard S, Ghoumid J, Caillaud C, Froissart R, Tabet AC, Lebon S, El Ghouzzi V, Mazda K, Verloes A.

Eur J Med Genet. 2012 Mar;55(3):157-62. doi: 10.1016/j.ejmg.2012.01.001. Epub 2012 Jan 25.

PMID:
22330346
45.

Harmonic nanocrystals for biolabeling: a survey of optical properties and biocompatibility.

Staedler D, Magouroux T, Hadji R, Joulaud C, Extermann J, Schwung S, Passemard S, Kasparian C, Clarke G, Gerrmann M, Le Dantec R, Mugnier Y, Rytz D, Ciepielewski D, Galez C, Gerber-Lemaire S, Juillerat-Jeanneret L, Bonacina L, Wolf JP.

ACS Nano. 2012 Mar 27;6(3):2542-9. doi: 10.1021/nn204990n. Epub 2012 Feb 17.

PMID:
22324660
46.

Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.

Lamb AN, Rosenfeld JA, Neill NJ, Talkowski ME, Blumenthal I, Girirajan S, Keelean-Fuller D, Fan Z, Pouncey J, Stevens C, Mackay-Loder L, Terespolsky D, Bader PI, Rosenbaum K, Vallee SE, Moeschler JB, Ladda R, Sell S, Martin J, Ryan S, Jones MC, Moran R, Shealy A, Madan-Khetarpal S, McConnell J, Surti U, Delahaye A, Heron-Longe B, Pipiras E, Benzacken B, Passemard S, Verloes A, Isidor B, Le Caignec C, Glew GM, Opheim KE, Descartes M, Eichler EE, Morton CC, Gusella JF, Schultz RA, Ballif BC, Shaffer LG.

Hum Mutat. 2012 Apr;33(4):728-40. doi: 10.1002/humu.22037.

47.

[Diagnostic investigations for an unexplained developmental disability].

Verloes A, Héron D, Billette de Villemeur T, Afenjar A, Baumann C, Bahi-Buisson N, Charles P, Faudet A, Jacquette A, Mignot C, Moutard ML, Passemard S, Rio M, Robel L, Rougeot C, Ville D, Burglen L, des Portes V; Réseau DéfiScience.

Arch Pediatr. 2012 Feb;19(2):194-207. doi: 10.1016/j.arcped.2011.11.014. Epub 2012 Jan 14. French.

PMID:
22245660
48.

Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies.

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