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Items: 1 to 50 of 193

1.

TERTp mutation detection in plasma by droplet-digital PCR in spinal myxopapillary ependymoma with lung metastases.

Deniel A, Marguet F, Beaussire L, Tobenas-Dujardin AC, Peillon C, Gambirasio MA, Veresezan O, Magne N, Di Fiore F, Laquerrière A, Sarafan-Vasseur N, Fontanilles M.

World Neurosurg. 2019 Jul 19. pii: S1878-8750(19)32017-0. doi: 10.1016/j.wneu.2019.07.111. [Epub ahead of print]

PMID:
31330336
2.

A new optimization strategy for MALDI FTICR MS tissue analysis for untargeted metabolomics using experimental design and data modeling.

Ferey J, Marguet F, Laquerrière A, Marret S, Schmitz-Afonso I, Bekri S, Afonso C, Tebani A.

Anal Bioanal Chem. 2019 Jul;411(17):3891-3903. doi: 10.1007/s00216-019-01863-6. Epub 2019 May 15.

PMID:
31093699
3.

Copy Number Variants in miR-138 as a Potential Risk Factor for Early-Onset Alzheimer's Disease.

Boscher E, Husson T, Quenez O, Laquerrière A, Marguet F, Cassinari K, Wallon D, Martinaud O, Charbonnier C, Nicolas G, Deleuze JF, Boland A, Lathrop M, Frébourg T; FREX Consortium, Campion D, Hébert SS, Rovelet-Lecrux A.

J Alzheimers Dis. 2019;68(3):1243-1255. doi: 10.3233/JAD-180940.

PMID:
30909216
4.

A de novo variant in ADGRL2 suggests a novel mechanism underlying the previously undescribed association of extreme microcephaly with severely reduced sulcation and rhombencephalosynapsis.

Vezain M, Lecuyer M, Rubio M, Dupé V, Ratié L, David V, Pasquier L, Odent S, Coutant S, Tournier I, Trestard L, Adle-Biassette H, Vivien D, Frébourg T, Gonzalez BJ, Laquerrière A, Saugier-Veber P.

Acta Neuropathol Commun. 2018 Oct 19;6(1):109. doi: 10.1186/s40478-018-0610-5.

5.

Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease.

Nicolas G, Acuña-Hidalgo R, Keogh MJ, Quenez O, Steehouwer M, Lelieveld S, Rousseau S, Richard AC, Oud MS, Marguet F, Laquerrière A, Morris CM, Attems J, Smith C, Ansorge O, Al Sarraj S, Frebourg T, Campion D, Hannequin D, Wallon D, Gilissen C, Chinnery PF, Veltman JA, Hoischen A.

Alzheimers Dement. 2018 Dec;14(12):1632-1639. doi: 10.1016/j.jalz.2018.06.3056. Epub 2018 Aug 13.

6.

Basal ganglia involvement in ARX patients: The reason for ARX patients very specific grasping?

Curie A, Friocourt G, des Portes V, Roy A, Nazir T, Brun A, Cheylus A, Marcorelles P, Retzepi K, Maleki N, Bussy G, Paulignan Y, Reboul A, Ibarrola D, Kong J, Hadjikhani N, Laquerrière A, Gollub RL.

Neuroimage Clin. 2018 Apr 5;19:454-465. doi: 10.1016/j.nicl.2018.04.001. eCollection 2018.

7.

Early platelet variation during concomitant chemo-radiotherapy predicts adjuvant temozolomide-induced thrombocytopenia in newly diagnosed glioblastoma patients.

Fontanilles M, Marguet F, Alexandru C, Langlois O, Veresezan O, Gilard V, David M, Laquerriere A, Hanzen C, Tennevet I, Di Fiore F, Clatot F.

Support Care Cancer. 2019 Feb;27(2):477-484. doi: 10.1007/s00520-018-4336-5. Epub 2018 Jul 5.

PMID:
29978325
8.

Patterns and severity of vascular amyloid in Alzheimer's disease associated with duplications and missense mutations in APP gene, Down syndrome and sporadic Alzheimer's disease.

Mann DMA, Davidson YS, Robinson AC, Allen N, Hashimoto T, Richardson A, Jones M, Snowden JS, Pendleton N, Potier MC, Laquerrière A, Prasher V, Iwatsubo T, Strydom A.

Acta Neuropathol. 2018 Oct;136(4):569-587. doi: 10.1007/s00401-018-1866-3. Epub 2018 May 16.

9.

Molecular characteristics of multifocal brain histiocytic sarcoma.

Marguet F, Piton N, Adle-Biassette H, Renaud F, Bohers E, Boyer T, Zarea A, Derrey S, Sabourin JC, Laquerrière A.

Neuropathol Appl Neurobiol. 2019 Apr;45(3):309-313. doi: 10.1111/nan.12490. Epub 2018 May 23. No abstract available.

PMID:
29679510
10.

Metabolic causes of nonimmune hydrops fetalis: A next-generation sequencing panel as a first-line investigation.

Sudrié-Arnaud B, Marguet F, Patrier S, Martinovic J, Louillet F, Broux F, Charbonnier F, Dranguet H, Coutant S, Vezain M, Lanos R, Tebani A, Fuller M, Lamari F, Chambon P, Brehin AC, Trestard L, Tournier I, Marret S, Verspyck E, Laquerrière A, Bekri S.

Clin Chim Acta. 2018 Jun;481:1-8. doi: 10.1016/j.cca.2018.02.023. Epub 2018 Feb 22.

PMID:
29476731
11.

Pediatric Chordomas: Results of a Multicentric Study of 40 Children and Proposal for a Histopathological Prognostic Grading System and New Therapeutic Strategies.

Beccaria K, Tauziède-Espariat A, Monnien F, Adle-Biassette H, Masliah-Planchon J, Pierron G, Maillot L, Polivka M, Laquerrière A, Bouillot-Eimer S, Gimbert E, Gauchotte G, Coffinet L, Sevestre H, Alapetite C, Bolle S, Thompson D, Zérah M, Sainte-Rose C, Puget S, Varlet P.

J Neuropathol Exp Neurol. 2018 Mar 1;77(3):207-215. doi: 10.1093/jnen/nlx118.

PMID:
29361006
12.

Early fetal presentation of Koolen-de Vries: Case report with literature review.

Sauvestre F, Marguet F, Rooryck C, Vuillaume ML, Cardinaud F, Laquerrière A, André G, Pelluard F.

Eur J Med Genet. 2017 Nov;60(11):605-609. doi: 10.1016/j.ejmg.2017.08.012. Epub 2017 Aug 12. Review.

PMID:
28811189
13.

Autopsy findings in EPG5-related Vici syndrome with antenatal onset.

Touraine R, Laquerrière A, Petcu CA, Marguet F, Byrne S, Mein R, Yau S, Mohammed S, Guibaud L, Gautel M, Jungbluth H.

Am J Med Genet A. 2017 Sep;173(9):2522-2527. doi: 10.1002/ajmg.a.38342. Epub 2017 Jul 27.

PMID:
28748650
14.

Deep intronic hotspot variant explaining rhabdoid tumor predisposition syndrome in two patients with atypical teratoid and rhabdoid tumor.

Tauziède-Espariat A, Masliah-Planchon J, Brugières L, Puget S, Dufour C, Schneider P, Laquerrière A, Frebourg T, Bodet D, Lechapt-Zalcman E, Pierron G, Delattre O, Varlet P, Bourdeaut F.

Eur J Hum Genet. 2017 Oct;25(10):1170-1172. doi: 10.1038/ejhg.2017.115. Epub 2017 Jul 19.

15.

Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues.

Biancalana V, Scheidecker S, Miguet M, Laquerrière A, Romero NB, Stojkovic T, Abath Neto O, Mercier S, Voermans N, Tanner L, Rogers C, Ollagnon-Roman E, Roper H, Boutte C, Ben-Shachar S, Lornage X, Vasli N, Schaefer E, Laforet P, Pouget J, Moerman A, Pasquier L, Marcorelle P, Magot A, Küsters B, Streichenberger N, Tranchant C, Dondaine N, Schneider R, Gasnier C, Calmels N, Kremer V, Nguyen K, Perrier J, Kamsteeg EJ, Carlier P, Carlier RY, Thompson J, Boland A, Deleuze JF, Fardeau M, Zanoteli E, Eymard B, Laporte J.

Acta Neuropathol. 2017 Dec;134(6):889-904. doi: 10.1007/s00401-017-1748-0. Epub 2017 Jul 6.

PMID:
28685322
16.

Non-invasive detection of somatic mutations using next-generation sequencing in primary central nervous system lymphoma.

Fontanilles M, Marguet F, Bohers É, Viailly PJ, Dubois S, Bertrand P, Camus V, Mareschal S, Ruminy P, Maingonnat C, Lepretre S, Veresezan EL, Derrey S, Tilly H, Picquenot JM, Laquerrière A, Jardin F.

Oncotarget. 2017 Jul 18;8(29):48157-48168. doi: 10.18632/oncotarget.18325.

17.

PLGF, a placental marker of fetal brain defects after in utero alcohol exposure.

Lecuyer M, Laquerrière A, Bekri S, Lesueur C, Ramdani Y, Jégou S, Uguen A, Marcorelles P, Marret S, Gonzalez BJ.

Acta Neuropathol Commun. 2017 Jun 6;5(1):44. doi: 10.1186/s40478-017-0444-6.

18.

In utero seizures revealing dentato-olivary dysplasia caused by SCN2A mutation.

Sauvestre F, Moutton S, Badens C, Broussin B, Carles D, Houcinat N, Lacoste C, Marguet F, Pecheux C, Villard L, Pelluard F, Laquerrière A, André G.

Neuropathol Appl Neurobiol. 2017 Dec;43(7):631-635. doi: 10.1111/nan.12409. Epub 2017 Jun 9. No abstract available.

PMID:
28489313
19.

Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene.

Saugier-Veber P, Marguet F, Lecoquierre F, Adle-Biassette H, Guimiot F, Cipriani S, Patrier S, Brasseur-Daudruy M, Goldenberg A, Layet V, Capri Y, Gérard M, Frébourg T, Laquerrière A.

Acta Neuropathol Commun. 2017 May 1;5(1):36. doi: 10.1186/s40478-017-0438-4.

20.

Neuropathological Hallmarks of Brain Malformations in Extreme Phenotypes Related to DYNC1H1 Mutations.

Laquerriere A, Maillard C, Cavallin M, Chapon F, Marguet F, Molin A, Sigaudy S, Blouet M, Benoist G, Fernandez C, Poirier K, Chelly J, Thomas S, Bahi-Buisson N.

J Neuropathol Exp Neurol. 2017 Mar 1;76(3):195-205. doi: 10.1093/jnen/nlw124.

PMID:
28395088
21.

Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita.

Xue S, Maluenda J, Marguet F, Shboul M, Quevarec L, Bonnard C, Ng AY, Tohari S, Tan TT, Kong MK, Monaghan KG, Cho MT, Siskind CE, Sampson JB, Rocha CT, Alkazaleh F, Gonzales M, Rigonnot L, Whalen S, Gut M, Gut I, Bucourt M, Venkatesh B, Laquerrière A, Reversade B, Melki J.

Am J Hum Genet. 2017 Apr 6;100(4):659-665. doi: 10.1016/j.ajhg.2017.02.006. Epub 2017 Mar 16.

22.

Microangiopathy in primary familial brain calcification: Evidence from skin biopsies.

Nicolas G, Marguet F, Laquerrière A, Mendes de Oliveira JR, Hannequin D.

Neurol Genet. 2017 Feb 8;3(2):e134. doi: 10.1212/NXG.0000000000000134. eCollection 2017 Apr. No abstract available.

23.

Prenatal alcohol exposure impairs autophagy in neonatal brain cortical microvessels.

Girault V, Gilard V, Marguet F, Lesueur C, Hauchecorne M, Ramdani Y, Laquerrière A, Marret S, Jégou S, Gonzalez BJ, Brasse-Lagnel C, Bekri S.

Cell Death Dis. 2017 Feb 9;8(2):e2610. doi: 10.1038/cddis.2017.29.

24.

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
25.

Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis.

Maluenda J, Manso C, Quevarec L, Vivanti A, Marguet F, Gonzales M, Guimiot F, Petit F, Toutain A, Whalen S, Grigorescu R, Coeslier AD, Gut M, Gut I, Laquerrière A, Devaux J, Melki J.

Am J Hum Genet. 2016 Oct 6;99(4):928-933. doi: 10.1016/j.ajhg.2016.07.021. Epub 2016 Sep 8.

26.

Pyridoxine-dependent epilepsy: report on three families with neuropathology.

Marguet F, Barakizou H, Tebani A, Abily-Donval L, Torre S, Bayoudh F, Jebnoun S, Brasseur-Daudruy M, Marret S, Laquerriere A, Bekri S.

Metab Brain Dis. 2016 Dec;31(6):1435-1443. Epub 2016 Jul 20.

PMID:
27438048
27.

Temporal and spatial distribution of mast cells and steroidogenic enzymes in the human fetal adrenal.

Naccache A, Louiset E, Duparc C, Laquerrière A, Patrier S, Renouf S, Gomez-Sanchez CE, Mukai K, Lefebvre H, Castanet M.

Mol Cell Endocrinol. 2016 Oct 15;434:69-80. doi: 10.1016/j.mce.2016.06.015. Epub 2016 Jun 11.

PMID:
27302892
28.

Clinical and Molecular Characterization of Patients with Mucopolysaccharidosis Type I in an Algerian Series.

Tebani A, Zanoutene-Cheriet L, Adjtoutah Z, Abily-Donval L, Brasse-Lagnel C, Laquerrière A, Marret S, Chalabi Benabdellah A, Bekri S.

Int J Mol Sci. 2016 May 17;17(5). pii: E743. doi: 10.3390/ijms17050743.

29.

Mitotic index, microvascular proliferation, and necrosis define 3 pathological subgroups of prognostic relevance among 1p/19q co-deleted anaplastic oligodendrogliomas.

Figarella-Branger D, Mokhtari K, Dehais C, Carpentier C, Colin C, Jouvet A, Uro-Coste E, Forest F, Maurage CA, Vignaud JM, Polivka M, Lechapt-Zalcman E, Eimer S, Viennet G, Quintin-Roué I, Aubriot-Lorton MH, Diebold MD, Loussouarn D, Lacroix C, Rigau V, Laquerrière A, Vandenbos F, Michalak S, Sevestre H, Peoch M, Labrousse F, Christov C, Kemeny JL, Chenard MP, Chiforeanu D, Ducray F, Idbaih A, Delattre JY; POLA Network.

Neuro Oncol. 2016 Jun;18(6):888-90. doi: 10.1093/neuonc/now085. No abstract available.

30.

Multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of late-onset treatable metabolic disease.

Béhin A, Acquaviva-Bourdain C, Souvannanorath S, Streichenberger N, Attarian S, Bassez G, Brivet M, Fouilhoux A, Labarre-Villa A, Laquerrière A, Pérard L, Kaminsky P, Pouget J, Rigal O, Vanhulle C, Eymard B, Vianey-Saban C, Laforêt P.

Rev Neurol (Paris). 2016 Mar;172(3):231-41. doi: 10.1016/j.neurol.2015.11.008. Epub 2016 Mar 30.

PMID:
27038534
31.

Phenotypic and Neuropathological Characterization of Fetal Pyruvate Dehydrogenase Deficiency.

Pirot N, Crahes M, Adle-Biassette H, Soares A, Bucourt M, Boutron A, Carbillon L, Mignot C, Trestard L, Bekri S, Laquerrière A.

J Neuropathol Exp Neurol. 2016 Mar;75(3):227-38. doi: 10.1093/jnen/nlv022. Epub 2016 Feb 9.

PMID:
26865159
32.

Clinical and pathologic features of Aicardi-Goutières syndrome due to an IFIH1 mutation: A pediatric case report.

Marguet F, Laquerrière A, Goldenberg A, Guerrot AM, Quenez O, Flahaut P, Vanhulle C, Dumant-Forest C, Charbonnier F, Vezain M, Bekri S, Tournier I, Frébourg T, Nicolas G.

Am J Med Genet A. 2016 May;170A(5):1317-24. doi: 10.1002/ajmg.a.37577. Epub 2016 Feb 1.

PMID:
26833990
33.

Prognostic and Therapeutic Markers in Chordomas: A Study of 287 Tumors.

Tauziéde-Espariat A, Bresson D, Polivka M, Bouazza S, Labrousse F, Aronica E, Pretet JL, Projetti F, Herman P, Salle H, Monnien F, Valmary-Degano S, Laquerrière A, Pocard M, Chaigneau L, Isambert N, Aubriot-Lorton MH, Feuvret L, George B, Froelich S, Adle-Biassette H.

J Neuropathol Exp Neurol. 2016 Feb;75(2):111-20.

PMID:
26733585
34.

De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy.

Laquerriere A, Gonzales M, Saillour Y, Cavallin M, Joyē N, Quēlin C, Bidat L, Dommergues M, Plessis G, Encha-Razavi F, Chelly J, Bahi-Buisson N, Poirier K.

Eur J Med Genet. 2016 Apr;59(4):249-56. doi: 10.1016/j.ejmg.2015.12.007. Epub 2015 Dec 28.

35.

Lethal Neonatal Progression of Fetal Cardiomegaly Associated to ACAD9 Deficiency.

Lagoutte-Renosi J, Ségalas-Milazzo I, Crahes M, Renosi F, Menu-Bouaouiche L, Torre S, Lardennois C, Rio M, Marret S, Brasse-Lagnel C, Laquerrière A, Bekri S.

JIMD Rep. 2015 Oct 17. [Epub ahead of print]

36.

Primary Leptomeningeal Gliomatosis in Children and Adults: A Morphological and Molecular Comparative Study With Literature Review.

Tauziede-Espariat A, Maues de Paula A, Pages M, Laquerriere A, Caietta E, Delpont B, Viennet G, Medeiros de Bustos E, Moulin T, Barnerias C, Vauleon E, Grill J, Chiforeanu D, Vasiljevic A, Varlet P.

Neurosurgery. 2016 Mar;78(3):343-52. doi: 10.1227/NEU.0000000000001028.

PMID:
26397750
37.

Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis.

Mejlachowicz D, Nolent F, Maluenda J, Ranjatoelina-Randrianaivo H, Giuliano F, Gut I, Sternberg D, Laquerrière A, Melki J.

Am J Hum Genet. 2015 Oct 1;97(4):616-20. doi: 10.1016/j.ajhg.2015.08.010. Epub 2015 Sep 10.

38.

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
39.

NMDA receptor blockade in the developing cortex induces autophagy-mediated death of immature cortical GABAergic interneurons: An ex vivo and in vivo study in Gad67-GFP mice.

Roux C, Aligny C, Lesueur C, Girault V, Brunel V, Ramdani Y, Genty D, Driouich A, Laquerrière A, Marret S, Brasse-Lagnel C, Gonzalez BJ, Bekri S.

Exp Neurol. 2015 May;267:177-93. doi: 10.1016/j.expneurol.2015.02.037. Epub 2015 Mar 17.

PMID:
25795167
40.

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.

Yuen M, Sandaradura SA, Dowling JJ, Kostyukova AS, Moroz N, Quinlan KG, Lehtokari VL, Ravenscroft G, Todd EJ, Ceyhan-Birsoy O, Gokhin DS, Maluenda J, Lek M, Nolent F, Pappas CT, Novak SM, D'Amico A, Malfatti E, Thomas BP, Gabriel SB, Gupta N, Daly MJ, Ilkovski B, Houweling PJ, Davidson AE, Swanson LC, Brownstein CA, Gupta VA, Medne L, Shannon P, Martin N, Bick DP, Flisberg A, Holmberg E, Van den Bergh P, Lapunzina P, Waddell LB, Sloboda DD, Bertini E, Chitayat D, Telfer WR, Laquerrière A, Gregorio CC, Ottenheijm CA, Bönnemann CG, Pelin K, Beggs AH, Hayashi YK, Romero NB, Laing NG, Nishino I, Wallgren-Pettersson C, Melki J, Fowler VM, MacArthur DG, North KN, Clarke NF.

J Clin Invest. 2015 Jan;125(1):456-7. doi: 10.1172/JCI80057. Epub 2015 Jan 2. No abstract available.

41.

Signaling switch of the urotensin II vasosactive peptide GPCR: prototypic chemotaxic mechanism in glioma.

Lecointre C, Desrues L, Joubert JE, Perzo N, Guichet PO, Le Joncour V, Brulé C, Chabbert M, Leduc R, Prézeau L, Laquerrière A, Proust F, Gandolfo P, Morin F, Castel H.

Oncogene. 2015 Sep 24;34(39):5080-94. doi: 10.1038/onc.2014.433. Epub 2015 Jan 19.

PMID:
25597409
42.

Fetal presentation of congenital fibrosarcoma of the meninges: case report and literature review.

Marguet F, Bergogne L, Laurent N, Rousseau T, Laquerrière A.

Clin Neuropathol. 2015 Mar-Apr;34(2):70-5. doi: 10.5414/NP300811. Review.

PMID:
25492889
43.

Neurological form of Erdheim-Chester disease : Case report and review of the literature.

Perez A, Crahes M, Laquerrière A, Proust F, Derrey S.

Neurochirurgie. 2014 Dec;60(6):316-20. doi: 10.1016/j.neuchi.2014.06.012. Epub 2014 Oct 22. Review.

PMID:
25441710
44.

Prognostic Relevance of Histomolecular Classification of Diffuse Adult High-Grade Gliomas with Necrosis.

Figarella-Branger D, Mokhtari K, Colin C, Uro-Coste E, Jouvet A, Dehais C, Carpentier C, Villa C, Maurage CA, Eimer S, Polivka M, Vignaud JM, Laquerriere A, Sevestre H, Lechapt-Zalcman E, Quintin-Roué I, Aubriot-Lorton MH, Diebold MD, Viennet G, Adam C, Loussouarn D, Michalak S, Rigau V, Heitzmann A, Vandenbos F, Forest F, Chiforeanu D, Tortel MC, Labrousse F, Chenard MP, Nguyen AT, Varlet P, Kemeny JL, Levillain PM, Cazals-Hatem D, Richard P, Delattre JY; POLA Network.

Brain Pathol. 2015 Jul;25(4):418-28. doi: 10.1111/bpa.12227. Epub 2014 Dec 31.

PMID:
25407774
45.

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.

Yuen M, Sandaradura SA, Dowling JJ, Kostyukova AS, Moroz N, Quinlan KG, Lehtokari VL, Ravenscroft G, Todd EJ, Ceyhan-Birsoy O, Gokhin DS, Maluenda J, Lek M, Nolent F, Pappas CT, Novak SM, D'Amico A, Malfatti E, Thomas BP, Gabriel SB, Gupta N, Daly MJ, Ilkovski B, Houweling PJ, Davidson AE, Swanson LC, Brownstein CA, Gupta VA, Medne L, Shannon P, Martin N, Bick DP, Flisberg A, Holmberg E, Van den Bergh P, Lapunzina P, Waddell LB, Sloboda DD, Bertini E, Chitayat D, Telfer WR, Laquerrière A, Gregorio CC, Ottenheijm CA, Bönnemann CG, Pelin K, Beggs AH, Hayashi YK, Romero NB, Laing NG, Nishino I, Wallgren-Pettersson C, Melki J, Fowler VM, MacArthur DG, North KN, Clarke NF.

J Clin Invest. 2014 Nov;124(11):4693-708. doi: 10.1172/JCI75199. Epub 2014 Sep 24. Erratum in: J Clin Invest. 2015 Jan;125(1):456-7.

46.

Fetal phenotype associated with the 22q11 deletion.

Noël AC, Pelluard F, Delezoide AL, Devisme L, Loeuillet L, Leroy B, Martin A, Bouvier R, Laquerriere A, Jeanne-Pasquier C, Bessieres-Grattagliano B, Mechler C, Alanio E, Leroy C, Gaillard D.

Am J Med Genet A. 2014 Nov;164A(11):2724-31. doi: 10.1002/ajmg.a.36720. Epub 2014 Aug 8.

PMID:
25111715
47.

Cystic fibrosis transmembrane conductance regulator protein (CFTR) expression in the developing human brain: comparative immunohistochemical study between patients with normal and mutated CFTR.

Marcorelles P, Friocourt G, Uguen A, Ledé F, Férec C, Laquerrière A.

J Histochem Cytochem. 2014 Nov;62(11):791-801. doi: 10.1369/0022155414546190. Epub 2014 Jul 25.

PMID:
25062999
48.

Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly.

Fallet-Bianco C, Laquerrière A, Poirier K, Razavi F, Guimiot F, Dias P, Loeuillet L, Lascelles K, Beldjord C, Carion N, Toussaint A, Revencu N, Addor MC, Lhermitte B, Gonzales M, Martinovich J, Bessieres B, Marcy-Bonnière M, Jossic F, Marcorelles P, Loget P, Chelly J, Bahi-Buisson N.

Acta Neuropathol Commun. 2014 Jul 25;2:69. doi: 10.1186/2051-5960-2-69.

49.

[Malignant meningioma with adenocarcinoma-like metaplasia: a rare entity to be not misdiagnosed].

Marguet F, Proust F, Crahes M, Basset C, Joly-Helas G, Chambon P, Laquerrière A.

Ann Pathol. 2014 Jun;34(3):223-7. doi: 10.1016/j.annpat.2014.03.004. Epub 2014 May 17. French.

PMID:
24950872
50.

Mitotic index, microvascular proliferation, and necrosis define 3 groups of 1p/19q codeleted anaplastic oligodendrogliomas associated with different genomic alterations.

Figarella-Branger D, Mokhtari K, Dehais C, Jouvet A, Uro-Coste E, Colin C, Carpentier C, Forest F, Maurage CA, Vignaud JM, Polivka M, Lechapt-Zalcman E, Eimer S, Viennet G, Quintin-Roué I, Aubriot-Lorton MH, Diebold MD, Loussouarn D, Lacroix C, Rigau V, Laquerrière A, Vandenbos F, Michalak S, Sevestre H, Peoch M, Labrousse F, Christov C, Kemeny JL, Chenard MP, Chiforeanu D, Ducray F, Idbaih A; POLA Network.

Neuro Oncol. 2014 Sep;16(9):1244-54. doi: 10.1093/neuonc/nou047. Epub 2014 Apr 9.

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